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
DNMBP	23268	broad.mit.edu	37	10	101716274	101716274	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:101716274C>A	uc001kqj.2	-	c.957G>T	c.(955-957)AGG>AGT	p.R319S	NCRNA00093_uc001kqk.1_Non-coding_Transcript	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	319					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)	5		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)										0.153846	16.172821	26.645489	14	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101716274	101716274	4857	10	C	A	A	A	389	30	DNMBP	2	2
PPRC1	23082	broad.mit.edu	37	10	103908224	103908224	+	Missense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:103908224C>T	uc001kum.2	+	c.4496C>T	c.(4495-4497)TCT>TTT	p.S1499F	PPRC1_uc001kun.2_Missense_Mutation_p.S1379F|PPRC1_uc010qqj.1_Missense_Mutation_p.S1235F|PPRC1_uc009xxa.2_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	1499	Arg-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)										0.106918	12.848031	37.250784	17	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103908224	103908224	12846	10	C	T	T	T	416	32	PPRC1	2	2
COL17A1	1308	broad.mit.edu	37	10	105811939	105811939	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:105811939C>A	uc001kxr.2	-	c.1976G>T	c.(1975-1977)GGT>GTT	p.G659V		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	659	Extracellular (Potential).|Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane				ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)										0.139963	106.047824	174.048908	76	467	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105811939	105811939	3812	10	C	A	A	A	234	18	COL17A1	2	2
DMBT1	1755	broad.mit.edu	37	10	124378843	124378844	+	Missense_Mutation	DNP	GC	TT	TT			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:124378843_124378844GC>TT	uc001lgk.1	+	c.4848_4849GC>TT	c.(4846-4851)ACGCCC>ACTTCC	p.P1617S	DMBT1_uc001lgl.1_Missense_Mutation_p.P1607S|DMBT1_uc001lgm.1_Missense_Mutation_p.P989S|DMBT1_uc009xzz.1_Missense_Mutation_p.P1617S|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.P320S|DMBT1_uc009yac.1_5'Flank	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	1617					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				Ovarian(182;93 2026 18125 22222 38972)								0.154676	83.445214	115.172001	43	235	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	124378843	124378844	4757	10	GC	TT	TT	TT	483	38	DMBT1	1	1
METTL10	399818	broad.mit.edu	37	10	126477687	126477687	+	Missense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:126477687C>T	uc001lhy.1	-	c.216G>A	c.(214-216)ATG>ATA	p.M72I	FAM53B_uc001lhu.1_5'UTR|METTL10_uc001lhz.1_5'UTR|METTL10_uc001lia.1_5'UTR	NM_212554	NP_997719	Q5JPI9	MTL10_HUMAN	methyltransferase like 10	72							methyltransferase activity				0		all_lung(145;0.0186)|Lung NSC(174;0.0295)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.101)|COAD - Colon adenocarcinoma(40;0.111)										0.088757	-0.52076	28.393863	15	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126477687	126477687	9883	10	C	T	T	T	325	25	METTL10	2	2
NPS	594857	broad.mit.edu	37	10	129350835	129350835	+	Nonsense_Mutation	SNP	A	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:129350835A>T	uc001ljx.1	+	c.202A>T	c.(202-204)AAA>TAA	p.K68*		NM_001030013	NP_001025184	P0C0P6	NPS_HUMAN	neuropeptide S precursor	68					neuropeptide signaling pathway	extracellular region					0														0.081081	-7.734892	65.050736	33	374	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	129350835	129350835	11004	10	A	T	T	T	117	9	NPS	5	3
KNDC1	85442	broad.mit.edu	37	10	135020282	135020282	+	Missense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:135020282G>T	uc001llz.1	+	c.3481G>T	c.(3481-3483)GGT>TGT	p.G1161C	KNDC1_uc001lma.1_Missense_Mutation_p.G1096C	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	1161	Potential.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					ovary(1)	1		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)										0.078947	-3.20697	24.308985	12	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135020282	135020282	8740	10	G	T	T	T	455	35	KNDC1	2	2
KNDC1	85442	broad.mit.edu	37	10	135020832	135020832	+	Silent	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:135020832G>A	uc001llz.1	+	c.3771G>A	c.(3769-3771)GGG>GGA	p.G1257G		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	1257	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					ovary(1)	1		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)										0.264151	31.725172	34.392021	14	39	KEEP	---	---	---	---	capture		Silent	SNP	135020832	135020832	8740	10	G	A	A	A	535	42	KNDC1	2	2
ST8SIA6	338596	broad.mit.edu	37	10	17373541	17373541	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:17373541C>A	uc001ipd.2	-	c.388G>T	c.(388-390)GCT>TCT	p.A130S	ST8SIA6_uc010qce.1_Non-coding_Transcript	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide	130	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(1)	1														0.138462	14.227617	22.443972	9	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17373541	17373541	15754	10	C	A	A	A	325	25	ST8SIA6	2	2
STAM	8027	broad.mit.edu	37	10	17737234	17737234	+	Missense_Mutation	SNP	A	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:17737234A>G	uc001ipj.1	+	c.722A>G	c.(721-723)GAT>GGT	p.D241G	STAM_uc010qcf.1_Missense_Mutation_p.D130G|STAM_uc009xjw.1_5'UTR	NM_003473	NP_003464	Q92783	STAM1_HUMAN	signal transducing adaptor molecule 1	241	SH3.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			large_intestine(1)|ovary(1)	2														0.131148	15.460282	23.525036	8	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17737234	17737234	15767	10	A	G	G	G	156	12	STAM	4	4
MYO3A	53904	broad.mit.edu	37	10	26377216	26377216	+	Missense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:26377216G>T	uc001isn.2	+	c.1444G>T	c.(1444-1446)GAC>TAC	p.D482Y	MYO3A_uc009xko.1_Missense_Mutation_p.D482Y|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.D482Y	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	482	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			ovary(6)|lung(3)|central_nervous_system(2)|breast(1)|kidney(1)|pancreas(1)	14										781				0.148936	22.480954	33.603284	14	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26377216	26377216	10471	10	G	T	T	T	585	45	MYO3A	2	2
PRKG1	5592	broad.mit.edu	37	10	53227490	53227491	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:53227490_53227491GG>TT	uc001jjo.2	+	c.486_487GG>TT	c.(484-489)AAGGTT>AATTTT	p.162_163KV>NF	PRKG1_uc001jjm.2_Missense_Mutation_p.147_148KV>NF|PRKG1_uc001jjn.2_Missense_Mutation_p.162_163KV>NF|PRKG1_uc010qhp.1_Missense_Mutation_p.147_148KV>NF	NM_006258	NP_006249	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I isoform	147_148	cGMP 1.				actin cytoskeleton organization|platelet activation|protein phosphorylation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			lung(2)|ovary(1)|central_nervous_system(1)	4		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)						1247				0.148148	6.380216	9.590842	4	23	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	53227490	53227491	12965	10	GG	TT	TT	TT	451	35	PRKG1	2	2
ANK3	288	broad.mit.edu	37	10	61832818	61832818	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:61832818C>A	uc001jky.2	-	c.7821G>T	c.(7819-7821)CAG>CAT	p.Q2607H	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2607					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			ovary(6)|pancreas(2)|central_nervous_system(1)|skin(1)	10														0.044199	-25.26594	15.004406	8	173	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61832818	61832818	625	10	C	A	A	A	259	20	ANK3	2	2
SGPL1	8879	broad.mit.edu	37	10	72633154	72633154	+	Missense_Mutation	SNP	A	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:72633154A>G	uc001jrm.2	+	c.1106A>G	c.(1105-1107)AAG>AGG	p.K369R	SGPL1_uc009xqk.2_Non-coding_Transcript	NM_003901	NP_003892	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	369	Cytoplasmic (Potential).				apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity				0					Pyridoxal Phosphate(DB00114)	Colon(151;1054 2458 6676 40971)								0.223602	109.016371	120.320707	36	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72633154	72633154	14709	10	A	G	G	G	39	3	SGPL1	4	4
ITIH2	3698	broad.mit.edu	37	10	7786869	7786869	+	Missense_Mutation	SNP	C	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:7786869C>G	uc001ijs.2	+	c.2524C>G	c.(2524-2526)CTG>GTG	p.L842V		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	842					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)	2														0.126866	34.275299	52.476509	17	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7786869	7786869	8208	10	C	G	G	G	415	32	ITIH2	3	3
GRID1	2894	broad.mit.edu	37	10	87898668	87898668	+	Missense_Mutation	SNP	T	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:87898668T>A	uc001kdl.1	-	c.634A>T	c.(634-636)ATG>TTG	p.M212L	GRID1_uc009xsu.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	212	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|large_intestine(2)	7					L-Glutamic Acid(DB00142)						Multiple Myeloma(13;0.14)			0.20229	113.522224	135.111401	53	209	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87898668	87898668	7049	10	T	A	A	A	650	50	GRID1	3	3
CYP2C18	1562	broad.mit.edu	37	10	96443609	96443609	+	Silent	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:96443609C>A	uc001kjv.3	+	c.33C>A	c.(31-33)CTC>CTA	p.L11L	CYP2C18_uc001kjw.3_Silent_p.L11L	NM_000772	NP_000763	P33260	CP2CI_HUMAN	cytochrome P450 family 2 subfamily C polypeptide	11					oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(3)|lung(1)	4		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)										0.097561	2.23086	15.544036	8	74	KEEP	---	---	---	---	capture		Silent	SNP	96443609	96443609	4330	10	C	A	A	A	405	32	CYP2C18	2	2
CYP2C19	1557	broad.mit.edu	37	10	96541656	96541656	+	Missense_Mutation	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:96541656G>A	uc010qnz.1	+	c.721G>A	c.(721-723)GAA>AAA	p.E241K	CYP2C19_uc009xus.1_Missense_Mutation_p.E106K|CYP2C19_uc010qny.1_Missense_Mutation_p.E219K	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C,	241					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidation-reduction process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			ovary(4)|central_nervous_system(1)	5		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)									0.108108	6.846071	18.113637	8	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96541656	96541656	4331	10	G	A	A	A	533	41	CYP2C19	2	2
BLNK	29760	broad.mit.edu	37	10	97969624	97969624	+	Missense_Mutation	SNP	G	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:97969624G>C	uc001kls.3	-	c.716C>G	c.(715-717)CCA>CGA	p.P239R	BLNK_uc001kme.3_Missense_Mutation_p.P134R|BLNK_uc001klt.3_Missense_Mutation_p.P130R|BLNK_uc009xvc.2_Non-coding_Transcript|BLNK_uc001klu.3_Missense_Mutation_p.P157R|BLNK_uc001klv.3_Missense_Mutation_p.P134R|BLNK_uc001klw.3_Intron|BLNK_uc001klx.3_Missense_Mutation_p.P216R|BLNK_uc001kly.3_Missense_Mutation_p.P239R|BLNK_uc001klz.3_Non-coding_Transcript|BLNK_uc001kma.3_Missense_Mutation_p.P216R|BLNK_uc001kmb.3_Missense_Mutation_p.P35R|BLNK_uc001kmc.3_Intron|BLNK_uc001kmd.3_Missense_Mutation_p.P157R|BLNK_uc009xvd.2_Non-coding_Transcript	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	B-cell linker isoform 1	239	Pro-rich.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity				0		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)						449				0.113924	27.937643	62.846716	27	210	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97969624	97969624	1472	10	G	C	C	C	611	47	BLNK	3	3
MMP3	4314	broad.mit.edu	37	11	102709892	102709892	+	Missense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:102709892C>T	uc001phj.1	-	c.1018G>A	c.(1018-1020)GTG>ATG	p.V340M		NM_002422	NP_002413	P08254	MMP3_HUMAN	matrix metalloproteinase 3 preproprotein	340	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			lung(1)|kidney(1)	2		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)									0.063063	-8.567293	13.50789	7	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102709892	102709892	10057	11	C	T	T	T	247	19	MMP3	1	1
NPAT	4863	broad.mit.edu	37	11	108057298	108057298	+	Splice_Site_SNP	SNP	T	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:108057298T>A	uc001pjz.3	-	c.639_splice	c.e8-1	p.S213_splice	NPAT_uc001pka.2_Splice_Site_SNP_p.S8_splice	NM_002519	NP_002510			nuclear protein,  ataxia-telangiectasia locus						regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription coactivator activity|transcription corepressor activity			ovary(2)	2		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)						345				0.065574	-2.947	9.000162	4	57	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	108057298	108057298	10970	11	T	A	A	A	715	55	NPAT	5	3
ZNF259	8882	broad.mit.edu	37	11	116657265	116657265	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:116657265C>A	uc001ppp.2	-	c.457G>T	c.(457-459)GCT>TCT	p.A153S	ZNF259_uc009yzd.2_Missense_Mutation_p.A153S|ZNF259_uc001ppq.2_Missense_Mutation_p.A99S	NM_003904	NP_003895	O75312	ZPR1_HUMAN	zinc finger protein 259	153					cell proliferation|signal transduction	cytoplasm|nucleolus					0	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)										0.15	15.131898	22.181871	9	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116657265	116657265	18392	11	C	A	A	A	325	25	ZNF259	2	2
MLL	4297	broad.mit.edu	37	11	118344632	118344632	+	Missense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:118344632G>T	uc001ptb.2	+	c.2758G>T	c.(2758-2760)GAT>TAT	p.D920Y	MLL_uc001pta.2_Missense_Mutation_p.D920Y|MLL_uc001psz.1_Missense_Mutation_p.D953Y|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	920					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|unmethylated CpG binding|zinc ion binding			ovary(5)|kidney(5)|lung(3)|pancreas(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)	18	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)						723				0.091603	2.392541	24.416075	12	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118344632	118344632	10010	11	G	T	T	T	429	33	MLL	2	2
BCL9L	283149	broad.mit.edu	37	11	118771514	118771514	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:118771514C>A	uc001pug.2	-	c.2938G>T	c.(2938-2940)GGC>TGC	p.G980C	BCL9L_uc009zal.2_Missense_Mutation_p.G975C	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	980	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of gene-specific transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	transcription coactivator activity			ovary(1)|pancreas(1)	2	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)										0.09009	1.867298	20.693785	10	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118771514	118771514	1403	11	C	A	A	A	299	23	BCL9L	1	1
HSPA8	3312	broad.mit.edu	37	11	122930584	122930584	+	Missense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:122930584G>T	uc001pyo.2	-	c.717C>A	c.(715-717)AAC>AAA	p.N239K	HSPA8_uc009zbc.2_Missense_Mutation_p.N3K|HSPA8_uc001pyp.2_Missense_Mutation_p.N239K|HSPA8_uc010rzu.1_Missense_Mutation_p.N162K|HSPA8_uc009zbd.1_Missense_Mutation_p.N239K|HSPA8_uc010rzv.1_3'UTR	NM_006597	NP_006588	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8 isoform 1	239	Interaction with BAG1.				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding|transcription repressor activity			central_nervous_system(7)|lung(1)	8		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		Colon(21;486 594 5900 6733 14272)								0.046729	-13.920317	9.523993	5	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122930584	122930584	7715	11	G	T	T	T	568	44	HSPA8	2	2
OR6X1	390260	broad.mit.edu	37	11	123624563	123624563	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123624563C>A	uc010rzy.1	-	c.664G>T	c.(664-666)GCA>TCA	p.A222S		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X,	222	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)										0.089552	0.997155	23.804093	12	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123624563	123624563	11623	11	C	A	A	A	351	27	OR6X1	1	1
OR6T1	219874	broad.mit.edu	37	11	123813616	123813616	+	Silent	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123813616G>T	uc010sab.1	-	c.930C>A	c.(928-930)CTC>CTA	p.L310L		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T,	310	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)										0.134328	36.678189	62.754935	27	174	KEEP	---	---	---	---	capture		Silent	SNP	123813616	123813616	11621	11	G	T	T	T	574	45	OR6T1	2	2
MUC5B	727897	broad.mit.edu	37	11	1247870	1247870	+	Silent	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1247870G>A	uc009ycr.1	+	c.2193G>A	c.(2191-2193)CGG>CGA	p.R731R	MUC5B_uc009yct.1_Silent_p.R75R|MUC5B_uc001ltb.2_Silent_p.R75R|MUC5B_uc001lta.2_5'Flank	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	75					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)										0.1875	6.117427	7.579248	3	13	KEEP	---	---	---	---	capture		Silent	SNP	1247870	1247870	10373	11	G	A	A	A	548	43	MUC5B	2	2
B3GAT1	27087	broad.mit.edu	37	11	134252846	134252846	+	Silent	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:134252846G>T	uc010scv.1	-	c.715C>A	c.(715-717)CGG>AGG	p.R239R	B3GAT1_uc001qhq.2_Silent_p.R226R|B3GAT1_uc001qhr.2_Silent_p.R226R	NM_054025	NP_473366	Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	226	Lumenal (Potential).				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(1)	1	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)										0.307692	10.994942	11.423623	4	9	KEEP	---	---	---	---	capture		Silent	SNP	134252846	134252846	1274	11	G	T	T	T	493	38	B3GAT1	1	1
HPS5	11234	broad.mit.edu	37	11	18330609	18330609	+	Silent	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:18330609C>A	uc001mod.1	-	c.495G>T	c.(493-495)GTG>GTT	p.V165V	HPS5_uc001moe.1_Silent_p.V51V|HPS5_uc001mof.1_Silent_p.V51V	NM_181507	NP_852608	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5 isoform a	165						cytosol				ovary(1)|pancreas(1)	2														0.170455	27.669604	36.710863	15	73	KEEP	---	---	---	---	capture		Silent	SNP	18330609	18330609	7634	11	C	A	A	A	366	29	HPS5	2	2
OR51B5	282763	broad.mit.edu	37	11	5363926	5363926	+	Missense_Mutation	SNP	C	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5363926C>G	uc001map.1	-	c.829G>C	c.(829-831)GCC>CCC	p.A277P	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B,	277	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.040404	-12.970354	9.537554	4	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5363926	5363926	11501	11	C	G	G	G	325	25	OR51B5	3	3
OR5D13	390142	broad.mit.edu	37	11	55541338	55541338	+	Missense_Mutation	SNP	T	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55541338T>C	uc010ril.1	+	c.425T>C	c.(424-426)CTC>CCC	p.L142P		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	142	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2		all_epithelial(135;0.196)												0.111111	26.548161	50.759628	18	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55541338	55541338	11564	11	T	C	C	C	702	54	OR5D13	4	4
OR8H2	390151	broad.mit.edu	37	11	55873453	55873453	+	Missense_Mutation	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55873453G>A	uc010riy.1	+	c.935G>A	c.(934-936)AGG>AAG	p.R312K		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H,	312	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Esophageal squamous(21;0.00693)													0.114583	14.252468	28.309549	11	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55873453	55873453	11649	11	G	A	A	A	455	35	OR8H2	2	2
OR52B6	340980	broad.mit.edu	37	11	5602711	5602711	+	Missense_Mutation	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5602711G>A	uc010qzi.1	+	c.605G>A	c.(604-606)GGC>GAC	p.G202D	HBG2_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B,	202	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.027356	-67.673714	13.423109	9	320	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5602711	5602711	11523	11	G	A	A	A	546	42	OR52B6	2	2
OR4D9	390199	broad.mit.edu	37	11	59282669	59282669	+	Missense_Mutation	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59282669G>A	uc010rkv.1	+	c.284G>A	c.(283-285)AGT>AAT	p.S95N		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D,	95	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.161616	58.963095	80.53842	32	166	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59282669	59282669	11466	11	G	A	A	A	468	36	OR4D9	2	2
MS4A4A	51338	broad.mit.edu	37	11	60070118	60070118	+	Silent	SNP	T	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60070118T>C	uc001noz.2	+	c.474T>C	c.(472-474)TAT>TAC	p.Y158Y	MS4A4A_uc001npa.2_Silent_p.Y139Y|MS4A4A_uc001npb.2_Silent_p.Y139Y|MS4A4A_uc001npc.2_Intron	NM_148975	NP_683876	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member	158	Helical; (Potential).					integral to membrane	receptor activity				0														0.058824	-6.126176	14.657508	6	96	KEEP	---	---	---	---	capture		Silent	SNP	60070118	60070118	10255	11	T	C	C	C	673	52	MS4A4A	4	4
PCNXL3	399909	broad.mit.edu	37	11	65385568	65385568	+	Silent	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65385568C>T	uc001oey.2	+	c.735C>T	c.(733-735)CTC>CTT	p.L245L		NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	245						integral to membrane					0														0.214286	6.116316	7.172693	3	11	KEEP	---	---	---	---	capture		Silent	SNP	65385568	65385568	12013	11	C	T	T	T	366	29	PCNXL3	2	2
PCNXL3	399909	broad.mit.edu	37	11	65385575	65385575	+	Nonsense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65385575G>T	uc001oey.2	+	c.742G>T	c.(742-744)GAG>TAG	p.E248*		NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	248						integral to membrane					0														0.166667	4.712007	6.610434	3	15	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	65385575	65385575	12013	11	G	T	T	T	533	41	PCNXL3	5	2
PCNXL3	399909	broad.mit.edu	37	11	65402863	65402863	+	Missense_Mutation	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65402863G>A	uc001oey.2	+	c.5128G>A	c.(5128-5130)GAC>AAC	p.D1710N	PCNXL3_uc001oez.2_Missense_Mutation_p.D597N	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1710						integral to membrane					0														0.115385	3.006809	6.795034	3	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65402863	65402863	12013	11	G	A	A	A	481	37	PCNXL3	1	1
PITPNM1	9600	broad.mit.edu	37	11	67259578	67259578	+	Missense_Mutation	SNP	G	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:67259578G>C	uc001olx.2	-	c.3661C>G	c.(3661-3663)CCG>GCG	p.P1221A	PITPNM1_uc001olw.2_Missense_Mutation_p.P503A|PITPNM1_uc001oly.2_Missense_Mutation_p.P1221A|PITPNM1_uc001olz.2_Missense_Mutation_p.P1220A	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	1221					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			lung(2)|central_nervous_system(1)	3						GBM(28;144 709 4607 5525)								0.168675	23.696396	32.331097	14	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67259578	67259578	12374	11	G	C	C	C	559	43	PITPNM1	3	3
RPS3	6188	broad.mit.edu	37	11	75115888	75115888	+	Silent	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:75115888C>T	uc001owh.2	+	c.711C>T	c.(709-711)CCC>CCT	p.P237P	RPS3_uc001owi.2_Silent_p.P237P|RPS3_uc001owk.1_Silent_p.P111P	NM_001005	NP_000996	P23396	RS3_HUMAN	ribosomal protein S3	237					activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome				0														0.185185	9.056137	11.56948	5	22	KEEP	---	---	---	---	capture		Silent	SNP	75115888	75115888	14123	11	C	T	T	T	275	22	RPS3	2	2
ODZ4	26011	broad.mit.edu	37	11	78399145	78399145	+	Silent	SNP	T	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:78399145T>G	uc001ozl.3	-	c.5214A>C	c.(5212-5214)ATA>ATC	p.I1738I	ODZ4_uc009yvb.1_Silent_p.I322I	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1738	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4														0.090361	12.834887	40.895019	15	151	KEEP	---	---	---	---	capture		Silent	SNP	78399145	78399145	11242	11	T	G	G	G	784	61	ODZ4	4	4
GABARAPL1	23710	broad.mit.edu	37	12	10374401	10374401	+	Missense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:10374401G>T	uc001qxs.2	+	c.304G>T	c.(304-306)GAC>TAC	p.D102Y	GABARAPL1_uc001qxt.2_Non-coding_Transcript|GABARAPL1_uc001qxu.2_Non-coding_Transcript	NM_031412	NP_113600	Q9H0R8	GBRL1_HUMAN	GABA(A) receptor-associated protein like 1	102						autophagic vacuole|endoplasmic reticulum|Golgi apparatus|membrane|microtubule	beta-tubulin binding|GABA receptor binding				0						Melanoma(3;46 76 4652 22680 42285)								0.112245	7.0433	21.618766	11	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10374401	10374401	6404	12	G	T	T	T	429	33	GABARAPL1	2	2
STAB2	55576	broad.mit.edu	37	12	104123896	104123896	+	Missense_Mutation	SNP	C	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:104123896C>G	uc001tjw.2	+	c.5085C>G	c.(5083-5085)AGC>AGG	p.S1695R	STAB2_uc009zug.2_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	1695	Extracellular (Potential).|FAS1 5.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(1)	10														0.167665	71.596121	89.068565	28	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104123896	104123896	15756	12	C	G	G	G	324	25	STAB2	3	3
TBX5	6910	broad.mit.edu	37	12	114832619	114832619	+	Missense_Mutation	SNP	T	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:114832619T>C	uc001tvo.2	-	c.590A>G	c.(589-591)AAA>AGA	p.K197R	TBX5_uc001tvp.2_Missense_Mutation_p.K197R|TBX5_uc001tvq.2_Missense_Mutation_p.K147R|TBX5_uc010syv.1_Missense_Mutation_p.K197R	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	197	T-box.				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)	7	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		NSCLC(152;1358 1980 4050 23898 40356)								0.076087	11.470553	96.152928	35	425	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114832619	114832619	16187	12	T	C	C	C	832	64	TBX5	4	4
KSR2	283455	broad.mit.edu	37	12	117962721	117962721	+	Missense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:117962721G>T	uc001two.2	-	c.2068C>A	c.(2068-2070)CAT>AAT	p.H690N		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	719	Protein kinase.				intracellular signal transduction|protein phosphorylation	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(7)|central_nervous_system(2)|large_intestine(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)									623				0.109375	5.792148	15.451654	7	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117962721	117962721	8905	12	G	T	T	T	598	46	KSR2	2	2
NCOR2	9612	broad.mit.edu	37	12	124812069	124812069	+	Missense_Mutation	SNP	A	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:124812069A>G	uc010tay.1	-	c.7099T>C	c.(7099-7101)TCC>CCC	p.S2367P	NCOR2_uc010taz.1_Intron|NCOR2_uc010tax.1_Intron	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 1	2368					cellular lipid metabolic process|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity|transcription repressor activity			ovary(1)|skin(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)										0.095238	-0.424169	6.616495	4	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124812069	124812069	10635	12	A	G	G	G	130	10	NCOR2	4	4
NCOR2	9612	broad.mit.edu	37	12	124832795	124832795	+	Missense_Mutation	SNP	T	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:124832795T>A	uc010tay.1	-	c.3931A>T	c.(3931-3933)ACG>TCG	p.T1311S	NCOR2_uc010taz.1_Missense_Mutation_p.T1295S|NCOR2_uc010tba.1_Missense_Mutation_p.T1312S|NCOR2_uc010tbb.1_Missense_Mutation_p.T1304S|NCOR2_uc010tbc.1_Missense_Mutation_p.T1294S|NCOR2_uc001ugj.1_Missense_Mutation_p.T1312S	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 1	1312					cellular lipid metabolic process|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity|transcription repressor activity			ovary(1)|skin(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)								OREG0022238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.171429	31.394342	42.105667	18	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124832795	124832795	10635	12	T	A	A	A	754	58	NCOR2	3	3
GPR133	283383	broad.mit.edu	37	12	131439012	131439012	+	Missense_Mutation	SNP	T	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:131439012T>A	uc010tbm.1	+	c.2T>A	c.(1-3)ATG>AAG	p.M1K	GPR133_uc001uit.3_Missense_Mutation_p.M1K	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	1					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)										0.152174	25.904384	36.552708	14	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131439012	131439012	6917	12	T	A	A	A	663	51	GPR133	3	3
POLE	5426	broad.mit.edu	37	12	133245323	133245323	+	Missense_Mutation	SNP	G	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:133245323G>C	uc001uks.1	-	c.1924C>G	c.(1924-1926)CCC>GCC	p.P642A	POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Missense_Mutation_p.P615A	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	642					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|lung(1)|central_nervous_system(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)										0.142857	16.760924	23.644014	8	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133245323	133245323	12624	12	G	C	C	C	546	42	POLE	3	3
GRIN2B	2904	broad.mit.edu	37	12	13716171	13716171	+	Missense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:13716171C>T	uc001rbt.2	-	c.4001G>A	c.(4000-4002)AGC>AAC	p.S1334N		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1334	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|lung(2)|skin(1)	10					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)					371				0.119048	8.089151	20.06824	10	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13716171	13716171	7059	12	C	T	T	T	364	28	GRIN2B	2	2
LRTM2	654429	broad.mit.edu	37	12	1940308	1940308	+	Missense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:1940308C>T	uc001qjt.2	+	c.275C>T	c.(274-276)TCC>TTC	p.S92F	CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.S92F|LRTM2_uc010sdx.1_Missense_Mutation_p.S92F|LRTM2_uc001qjv.2_Intron	NM_001039029	NP_001034118	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	92	Extracellular (Potential).					integral to membrane				large_intestine(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)											0.236559	46.179379	52.103886	22	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1940308	1940308	9421	12	C	T	T	T	390	30	LRTM2	2	2
SOX5	6660	broad.mit.edu	37	12	23893822	23893823	+	Missense_Mutation	DNP	CA	AG	AG			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:23893822_23893823CA>AG	uc001rfw.2	-	c.719_720TG>CT	c.(718-720)CTG>CCT	p.L240P	SOX5_uc001rfx.2_Missense_Mutation_p.L227P|SOX5_uc001rfy.2_Missense_Mutation_p.L227P|SOX5_uc010siv.1_Missense_Mutation_p.L227P|SOX5_uc010siw.1_Non-coding_Transcript|SOX5_uc001rfz.1_Missense_Mutation_p.L192P	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	240	Potential.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6														0.138614	22.274944	35.031515	14	87	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	23893822	23893823	15454	12	CA	AG	AG	AG	262	21	SOX5	2	2
MLL2	8085	broad.mit.edu	37	12	49437167	49437167	+	Nonsense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49437167C>A	uc001rta.3	-	c.5512G>T	c.(5512-5514)GAG>TAG	p.E1838*		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1838					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of gene-specific transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|promoter binding|protein binding|zinc ion binding			kidney(16)|lung(4)|skin(4)|ovary(3)|pancreas(2)	29												OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.123223	23.428028	52.758926	26	185	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	49437167	49437167	10011	12	C	A	A	A	403	31	MLL2	5	1
KCNA5	3741	broad.mit.edu	37	12	5154911	5154911	+	Missense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:5154911C>T	uc001qni.2	+	c.1598C>T	c.(1597-1599)GCA>GTA	p.A533V		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	533						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4														0.218391	39.071203	45.436385	19	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5154911	5154911	8311	12	C	T	T	T	325	25	KCNA5	2	2
KRT6B	3854	broad.mit.edu	37	12	52845781	52845781	+	Missense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52845781C>T	uc001sak.2	-	c.82G>A	c.(82-84)GTC>ATC	p.V28I		NM_005555	NP_005546	P04259	K2C6B_HUMAN	keratin 6B	28	Head.				ectoderm development	keratin filament	structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.083)										0.179487	10.382731	14.184472	7	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52845781	52845781	8796	12	C	T	T	T	234	18	KRT6B	2	2
KRT6C	286887	broad.mit.edu	37	12	52863627	52863627	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52863627C>A	uc001sal.3	-	c.1251G>T	c.(1249-1251)GAG>GAT	p.E417D		NM_173086	NP_775109	P48668	K2C6C_HUMAN	keratin 6C	417	Rod.|Coil 2.				cytoskeleton organization	keratin filament	structural molecule activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0828)										0.282051	47.440257	50.757692	22	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52863627	52863627	8797	12	C	A	A	A	415	32	KRT6C	2	2
KRT77	374454	broad.mit.edu	37	12	53090181	53090181	+	Silent	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53090181G>A	uc001saw.2	-	c.792C>T	c.(790-792)AGC>AGT	p.S264S	KRT77_uc009zmi.2_Silent_p.S22S	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	keratin 77	264	Coil 1B.|Rod.					keratin filament	structural molecule activity			ovary(1)	1														0.064815	-7.99533	13.199277	7	101	KEEP	---	---	---	---	capture		Silent	SNP	53090181	53090181	8805	12	G	A	A	A	490	38	KRT77	1	1
SPRYD3	84926	broad.mit.edu	37	12	53468892	53468892	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53468892C>A	uc001sbt.1	-	c.358G>T	c.(358-360)GCT>TCT	p.A120S	SPRYD3_uc010snw.1_5'UTR	NM_032840	NP_116229	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	120	B30.2/SPRY.										0														0.069767	-9.259796	31.844942	15	200	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53468892	53468892	15623	12	C	A	A	A	325	25	SPRYD3	2	2
CSAD	51380	broad.mit.edu	37	12	53563881	53563881	+	Missense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53563881C>T	uc010snx.1	-	c.758G>A	c.(757-759)AGG>AAG	p.R253K	CSAD_uc001sbw.2_Missense_Mutation_p.R79K|CSAD_uc009zmt.2_Missense_Mutation_p.R8K|CSAD_uc001sby.2_Missense_Mutation_p.R226K|CSAD_uc001sbz.2_Missense_Mutation_p.R226K|CSAD_uc009zmu.2_Missense_Mutation_p.R79K|CSAD_uc001sca.3_Non-coding_Transcript	NM_015989	NP_057073	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	226					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			ovary(1)	1					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	Ovarian(109;252 1546 16882 28524 44645)								0.107692	8.573915	18.496772	7	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53563881	53563881	4064	12	C	T	T	T	312	24	CSAD	2	2
HOXC4	3221	broad.mit.edu	37	12	54448708	54448708	+	Missense_Mutation	SNP	G	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:54448708G>C	uc001seu.2	+	c.514G>C	c.(514-516)GAG>CAG	p.E172Q	HOXC4_uc001sex.2_Missense_Mutation_p.E172Q	NM_014620	NP_055435	P09017	HXC4_HUMAN	homeobox C4	172	Homeobox.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1														0.1875	40.277004	47.591799	15	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54448708	54448708	7605	12	G	C	C	C	429	33	HOXC4	3	3
CDCA3	83461	broad.mit.edu	37	12	6959654	6959654	+	Missense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6959654G>T	uc001qrg.2	-	c.227C>A	c.(226-228)ACA>AAA	p.T76K	CDCA3_uc001qre.2_Missense_Mutation_p.T76K|USP5_uc001qri.3_5'Flank|USP5_uc001qrh.3_5'Flank	NM_031299	NP_112589	Q99618	CDCA3_HUMAN	cell division cycle associated 3	76					cell division|mitosis	cytosol					0														0.182186	94.306321	117.766139	45	202	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6959654	6959654	3216	12	G	T	T	T	624	48	CDCA3	2	2
NAV3	89795	broad.mit.edu	37	12	78415581	78415581	+	Missense_Mutation	SNP	T	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:78415581T>A	uc001syp.2	+	c.1962T>A	c.(1960-1962)AGT>AGA	p.S654R	NAV3_uc001syo.2_Missense_Mutation_p.S654R	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	654						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16									p.S654S(HEC108-Tumor)	1091				0.083333	-0.132455	8.333696	4	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78415581	78415581	10581	12	T	A	A	A	751	58	NAV3	3	3
TUBA3C	7278	broad.mit.edu	37	13	19751266	19751266	+	Missense_Mutation	SNP	A	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:19751266A>T	uc009zzj.2	-	c.857T>A	c.(856-858)CTG>CAG	p.L286Q		NM_006001	NP_005992	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	286					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(3)	3		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)										0.080292	-1.078043	23.530794	11	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19751266	19751266	17301	13	A	T	T	T	91	7	TUBA3C	3	3
TUBA3C	7278	broad.mit.edu	37	13	19751284	19751284	+	Missense_Mutation	SNP	T	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:19751284T>A	uc009zzj.2	-	c.839A>T	c.(838-840)AAG>ATG	p.K280M		NM_006001	NP_005992	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	280					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(3)	3		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)										0.195652	48.73655	60.677808	27	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19751284	19751284	17301	13	T	A	A	A	728	56	TUBA3C	3	3
TPTE2	93492	broad.mit.edu	37	13	20012237	20012237	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:20012237C>A	uc001umd.2	-	c.1030G>T	c.(1030-1032)GCC>TCC	p.A344S	TPTE2_uc009zzk.2_Non-coding_Transcript|TPTE2_uc009zzl.2_Missense_Mutation_p.A233S|TPTE2_uc001ume.2_Missense_Mutation_p.A267S|TPTE2_uc009zzm.2_Missense_Mutation_p.A15S|TPTE2_uc010tcm.1_Non-coding_Transcript|TPTE2_uc010tcl.1_Missense_Mutation_p.A15S	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	TPTE and PTEN homologous inositol lipid	344	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)										0.257143	44.213215	47.958527	18	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20012237	20012237	16975	13	C	A	A	A	325	25	TPTE2	2	2
MIPEP	4285	broad.mit.edu	37	13	24449047	24449047	+	Silent	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:24449047G>T	uc001uox.3	-	c.541C>A	c.(541-543)CGA>AGA	p.R181R		NM_005932	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase precursor	181					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)										0.108434	8.915675	21.526836	9	74	KEEP	---	---	---	---	capture		Silent	SNP	24449047	24449047	9982	13	G	T	T	T	493	38	MIPEP	1	1
DGKH	160851	broad.mit.edu	37	13	42784849	42784849	+	Nonsense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:42784849G>T	uc001uyl.1	+	c.2962G>T	c.(2962-2964)GAG>TAG	p.E988*	DGKH_uc010tfh.1_Nonsense_Mutation_p.E988*|DGKH_uc001uym.1_Nonsense_Mutation_p.E988*|DGKH_uc010tfi.1_Nonsense_Mutation_p.E743*|DGKH_uc010tfj.1_Nonsense_Mutation_p.E843*|DGKH_uc001uyn.1_Non-coding_Transcript|DGKH_uc001uyo.1_Nonsense_Mutation_p.E843*|DGKH_uc001uyp.2_Non-coding_Transcript	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta isoform 2	988					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(2)	2		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)										0.076923	-2.715087	11.585313	6	72	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	42784849	42784849	4649	13	G	T	T	T	429	33	DGKH	5	2
CLN5	1203	broad.mit.edu	37	13	77570114	77570114	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:77570114C>A	uc001vkc.2	+	c.564C>A	c.(562-564)TTC>TTA	p.F188L		NM_006493	NP_006484	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	139					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)										0.201878	84.097407	101.697778	43	170	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77570114	77570114	3682	13	C	A	A	A	389	30	CLN5	2	2
OR4K1	79544	broad.mit.edu	37	14	20404336	20404336	+	Missense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20404336C>T	uc001vwj.1	+	c.511C>T	c.(511-513)CCC>TCC	p.P171S		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K,	171	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)										0.255556	57.81495	62.67183	23	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20404336	20404336	11477	14	C	T	T	T	390	30	OR4K1	2	2
KIAA0586	9786	broad.mit.edu	37	14	58941426	58941426	+	Silent	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:58941426G>T	uc001xdu.3	+	c.2691G>T	c.(2689-2691)CCG>CCT	p.P897P	KIAA0586_uc010trr.1_Silent_p.P953P|KIAA0586_uc001xdt.3_Silent_p.P868P|KIAA0586_uc010trs.1_Silent_p.P827P|KIAA0586_uc001xdv.3_Silent_p.P836P|KIAA0586_uc010trt.1_Silent_p.P772P|KIAA0586_uc010tru.1_Silent_p.P772P	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN	talpid3 protein	836										ovary(1)	1														0.270833	34.055233	36.328481	13	35	KEEP	---	---	---	---	capture		Silent	SNP	58941426	58941426	8493	14	G	T	T	T	483	38	KIAA0586	1	1
HEATR4	399671	broad.mit.edu	37	14	73945385	73945385	+	Missense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:73945385C>T	uc010tua.1	-	c.2866G>A	c.(2866-2868)GGT>AGT	p.G956S		NM_203309	NP_976054	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	956							binding				0				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)										0.322148	139.092705	143.255012	48	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73945385	73945385	7313	14	C	T	T	T	286	22	HEATR4	2	2
YLPM1	56252	broad.mit.edu	37	14	75230867	75230867	+	Silent	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:75230867G>A	uc001xqj.3	+	c.675G>A	c.(673-675)TTG>TTA	p.L225L		NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	65	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)										0.357143	94.67192	96.683009	40	72	KEEP	---	---	---	---	capture		Silent	SNP	75230867	75230867	18069	14	G	A	A	A	594	46	YLPM1	2	2
TSHR	7253	broad.mit.edu	37	14	81609452	81609453	+	Missense_Mutation	DNP	TC	AT	AT			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:81609452_81609453TC>AT	uc001xvd.1	+	c.1050_1051TC>AT	c.(1048-1053)GCTCAT>GCATAT	p.H351Y		NM_000369	NP_000360	P16473	TSHR_HUMAN	thyroid stimulating hormone receptor isoform 1	351	Extracellular (Potential).				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			thyroid(289)|ovary(5)|lung(3)|kidney(1)	298				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)					868				0.329193	139.915695	144.082083	53	108	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	81609452	81609453	17173	14	TC	AT	AT	AT	691	54	TSHR	3	3
ITPK1	3705	broad.mit.edu	37	14	93412788	93412788	+	Silent	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:93412788C>A	uc001ybg.2	-	c.789G>T	c.(787-789)CGG>CGT	p.R263R	ITPK1_uc001ybe.2_Silent_p.R263R|ITPK1_uc001ybf.2_Silent_p.R144R|ITPK1_uc001ybh.2_Silent_p.R263R	NM_014216	NP_055031	Q13572	ITPK1_HUMAN	inositol 1,3,4-triphosphate 5/6 kinase isoform	263	ATP-grasp.				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding				0		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)										0.137931	7.385261	14.92194	8	50	KEEP	---	---	---	---	capture		Silent	SNP	93412788	93412788	8220	14	C	A	A	A	275	22	ITPK1	2	2
OR4M2	390538	broad.mit.edu	37	15	22368951	22368951	+	Missense_Mutation	SNP	A	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:22368951A>T	uc010tzu.1	+	c.376A>T	c.(376-378)ATC>TTC	p.I126F	LOC727924_uc001yua.2_Non-coding_Transcript|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M,	126	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)										0.25641	103.044963	111.426387	40	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22368951	22368951	11486	15	A	T	T	T	208	16	OR4M2	3	3
GABRA5	2558	broad.mit.edu	37	15	27188545	27188545	+	Missense_Mutation	SNP	A	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:27188545A>G	uc001zbd.1	+	c.1061A>G	c.(1060-1062)AAA>AGA	p.K354R	GABRA5_uc001zbe.1_5'Flank	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid A receptor, alpha 5	354	Cytoplasmic (Potential).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(1)	1		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)									0.428571	9.924088	9.9552	3	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27188545	27188545	6415	15	A	G	G	G	13	1	GABRA5	4	4
CCNDBP1	23582	broad.mit.edu	37	15	43486931	43486931	+	Missense_Mutation	SNP	T	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:43486931T>A	uc001zqv.2	+	c.975T>A	c.(973-975)AGT>AGA	p.S325R	CCNDBP1_uc010bdc.2_3'UTR|CCNDBP1_uc010bdb.2_Missense_Mutation_p.S197R|CCNDBP1_uc010udl.1_Missense_Mutation_p.S164R|CCNDBP1_uc001zqw.2_Non-coding_Transcript|CCNDBP1_uc001zqx.2_Missense_Mutation_p.S197R|CCNDBP1_uc010bdd.2_Missense_Mutation_p.S197R|CCNDBP1_uc001zqy.2_Missense_Mutation_p.S197R	NM_012142	NP_036274	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1 isoform 1	325	Interaction with TCF3.|Interaction with RPLP0.				cell cycle	cytoplasm|nucleus	protein binding			ovary(1)|kidney(1)	2		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)										0.122951	18.344641	35.315091	15	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43486931	43486931	3046	15	T	A	A	A	751	58	CCNDBP1	3	3
SLC12A1	6557	broad.mit.edu	37	15	48541816	48541816	+	Missense_Mutation	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:48541816G>A	uc001zwn.3	+	c.1729G>A	c.(1729-1731)GCC>ACC	p.A577T	SLC12A1_uc010uew.1_Missense_Mutation_p.A383T|SLC12A1_uc010bem.2_Missense_Mutation_p.A577T|SLC12A1_uc001zwq.3_Missense_Mutation_p.A348T|SLC12A1_uc001zwr.3_Missense_Mutation_p.A304T	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	577	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)									0.092593	3.059883	21.11168	10	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48541816	48541816	14877	15	G	A	A	A	546	42	SLC12A1	2	2
RORA	6095	broad.mit.edu	37	15	60795017	60795017	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:60795017C>A	uc002agv.2	-	c.1224G>T	c.(1222-1224)CAG>CAT	p.Q408H	RORA_uc002agt.3_Missense_Mutation_p.Q320H|RORA_uc002agw.2_Missense_Mutation_p.Q400H|RORA_uc002agx.2_Missense_Mutation_p.Q375H	NM_134260	NP_599022	P35398	RORA_HUMAN	RAR-related orphan receptor A isoform b	408	Ligand-binding.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			large_intestine(1)|ovary(1)	2														0.137349	76.465477	129.310971	57	358	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60795017	60795017	14007	15	C	A	A	A	415	32	RORA	2	2
USP3	9960	broad.mit.edu	37	15	63829318	63829318	+	Missense_Mutation	SNP	A	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:63829318A>C	uc002amf.2	+	c.247A>C	c.(247-249)ACA>CCA	p.T83P	USP3_uc010uii.1_Non-coding_Transcript|USP3_uc002amg.2_5'UTR|USP3_uc002amh.2_Missense_Mutation_p.T61P|USP3_uc010uij.1_Intron|USP3_uc010uik.1_Intron|USP3_uc010bgs.2_Missense_Mutation_p.T66P|USP3_uc002ami.2_5'UTR	NM_006537	NP_006528	Q9Y6I4	UBP3_HUMAN	ubiquitin thiolesterase 3	83	UBP-type.				DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding				0				GBM - Glioblastoma multiforme(80;0.0187)										0.078431	1.961712	11.220489	4	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63829318	63829318	17624	15	A	C	C	C	78	6	USP3	4	4
IGDCC4	57722	broad.mit.edu	37	15	65678177	65678177	+	Missense_Mutation	SNP	T	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:65678177T>C	uc002aou.1	-	c.3172A>G	c.(3172-3174)AAA>GAA	p.K1058E	IGDCC4_uc002aot.1_Missense_Mutation_p.K646E	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	1058	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)|pancreas(1)	2												OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.147826	33.14114	46.800425	17	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65678177	65678177	7870	15	T	C	C	C	819	63	IGDCC4	4	4
FEM1B	10116	broad.mit.edu	37	15	68583378	68583378	+	Missense_Mutation	SNP	A	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:68583378A>C	uc002arg.2	+	c.1682A>C	c.(1681-1683)GAA>GCA	p.E561A	FEM1B_uc002arh.2_Missense_Mutation_p.E481A	NM_015322	NP_056137	Q9UK73	FEM1B_HUMAN	fem-1 homolog b	561	ANK 8.				apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity				0														0.306122	102.91958	106.200886	30	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68583378	68583378	6047	15	A	C	C	C	117	9	FEM1B	4	4
PKM2	5315	broad.mit.edu	37	15	72499545	72499545	+	Nonsense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:72499545C>A	uc010uki.1	-	c.1132G>T	c.(1132-1134)GAG>TAG	p.E378*	PKM2_uc002ats.1_5'Flank|PKM2_uc002att.1_Nonsense_Mutation_p.E70*|PKM2_uc002atu.1_Nonsense_Mutation_p.E70*|PKM2_uc010bit.1_Nonsense_Mutation_p.E309*|PKM2_uc002atv.1_Nonsense_Mutation_p.E339*|PKM2_uc002atx.1_Nonsense_Mutation_p.E304*|PKM2_uc002atw.1_Nonsense_Mutation_p.E304*|PKM2_uc002aty.1_Nonsense_Mutation_p.E304*|PKM2_uc010ukj.1_Nonsense_Mutation_p.E289*|PKM2_uc010ukk.1_Nonsense_Mutation_p.E230*|PKM2_uc010biu.1_Nonsense_Mutation_p.E325*|PKM2_uc002atz.1_Non-coding_Transcript	NM_182471	NP_872271	P14618	KPYM_HUMAN	pyruvate kinase, muscle isoform M1	304					glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity				0					Pyruvic acid(DB00119)									0.098361	2.699557	12.551675	6	55	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	72499545	72499545	12402	15	C	A	A	A	416	32	PKM2	5	2
RHBDF1	64285	broad.mit.edu	37	16	109338	109338	+	Missense_Mutation	SNP	T	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:109338T>G	uc002cfl.3	-	c.1903A>C	c.(1903-1905)ATG>CTG	p.M635L		NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	rhomboid family 1	635	Lumenal (Potential).				cell migration|cell proliferation|negative regulation of protein secretion|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(1)|pancreas(1)	2		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)												0.20339	34.971962	39.786154	12	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109338	109338	13794	16	T	G	G	G	663	51	RHBDF1	4	4
GPR139	124274	broad.mit.edu	37	16	20043226	20043226	+	Missense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20043226G>T	uc002dgu.1	-	c.893C>A	c.(892-894)GCC>GAC	p.A298D	GPR139_uc010vaw.1_Missense_Mutation_p.A205D	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	298	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(2)	2														0.138889	25.243882	43.366507	20	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20043226	20043226	6922	16	G	T	T	T	546	42	GPR139	2	2
GSG1L	146395	broad.mit.edu	37	16	27802749	27802749	+	Missense_Mutation	SNP	G	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:27802749G>C	uc002doz.2	-	c.938C>G	c.(937-939)TCC>TGC	p.S313C	GSG1L_uc010bya.1_Missense_Mutation_p.S262C|GSG1L_uc010bxz.1_Missense_Mutation_p.S176C|GSG1L_uc002doy.2_Missense_Mutation_p.S158C	NM_001109763	NP_001103233	Q6UXU4	GSG1L_HUMAN	GSG1-like isoform 1	313						integral to membrane				ovary(1)	1														0.377778	58.274348	58.860145	17	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27802749	27802749	7101	16	G	C	C	C	533	41	GSG1L	3	3
ATXN2L	11273	broad.mit.edu	37	16	28845407	28845407	+	Missense_Mutation	SNP	A	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:28845407A>G	uc002dqy.2	+	c.2047A>G	c.(2047-2049)ACT>GCT	p.T683A	ATXN2L_uc002drb.2_Missense_Mutation_p.T683A|ATXN2L_uc002dra.2_Missense_Mutation_p.T683A|ATXN2L_uc002dqz.2_Missense_Mutation_p.T683A|ATXN2L_uc002drc.2_Missense_Mutation_p.T683A|ATXN2L_uc010vdb.1_Missense_Mutation_p.T689A|ATXN2L_uc002dre.2_Missense_Mutation_p.T683A|ATXN2L_uc002drf.2_Missense_Mutation_p.T92A|ATXN2L_uc002drg.2_5'UTR	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	ataxin 2 related protein isoform C	683						membrane				ovary(1)	1														0.104	15.270866	34.835949	13	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28845407	28845407	1232	16	A	G	G	G	26	2	ATXN2L	4	4
CES7	221223	broad.mit.edu	37	16	55900000	55900000	+	Missense_Mutation	SNP	A	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:55900000A>T	uc002eip.2	-	c.580T>A	c.(580-582)TGG>AGG	p.W194R	CES7_uc002eio.2_Missense_Mutation_p.W194R|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_Missense_Mutation_p.W88R	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	194					regulation of synaptic transmission	extracellular region	methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)										0.137255	10.589523	17.088235	7	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55900000	55900000	3405	16	A	T	T	T	91	7	CES7	3	3
FAM65A	79567	broad.mit.edu	37	16	67575922	67575922	+	Silent	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67575922C>A	uc010vjp.1	+	c.1293C>A	c.(1291-1293)CCC>CCA	p.P431P	FAM65A_uc010cei.1_Silent_p.P253P|FAM65A_uc002eth.2_Silent_p.P411P|FAM65A_uc010cej.2_Silent_p.P414P|FAM65A_uc002eti.1_Silent_p.P374P|FAM65A_uc010vjq.1_Silent_p.P425P|FAM65A_uc002etj.1_Silent_p.P410P|FAM65A_uc002etk.2_Silent_p.P410P	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	415						cytoplasm	binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)										0.23	49.867122	56.555996	23	77	KEEP	---	---	---	---	capture		Silent	SNP	67575922	67575922	5822	16	C	A	A	A	262	21	FAM65A	2	2
MYH4	4622	broad.mit.edu	37	17	10356616	10356616	+	Silent	SNP	A	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10356616A>T	uc002gmn.2	-	c.2964T>A	c.(2962-2964)GGT>GGA	p.G988G		NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	988	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|central_nervous_system(1)	11														0.071429	-10.128678	24.296967	13	169	KEEP	---	---	---	---	capture		Silent	SNP	10356616	10356616	10432	17	A	T	T	T	119	10	MYH4	3	3
C17orf48	56985	broad.mit.edu	37	17	10608747	10608747	+	Missense_Mutation	SNP	G	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10608747G>C	uc002gmt.2	+	c.504G>C	c.(502-504)TTG>TTC	p.L168F	C17orf48_uc002gmu.2_Non-coding_Transcript|C17orf48_uc002gmv.2_Non-coding_Transcript|C17orf48_uc010vvg.1_Missense_Mutation_p.L168F	NM_020233	NP_064618	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol pyrophosphatase	168							ADP-ribose diphosphatase activity|CDP-glycerol diphosphatase activity|metal ion binding				0														0.06993	3.427776	30.731762	10	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10608747	10608747	1915	17	G	C	C	C	581	45	C17orf48	3	3
DNAH9	1770	broad.mit.edu	37	17	11608469	11608469	+	Missense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:11608469C>T	uc002gne.2	+	c.5519C>T	c.(5518-5520)ACA>ATA	p.T1840I	DNAH9_uc010coo.2_Missense_Mutation_p.T1134I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	1840	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	10		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)										0.064935	-6.893585	8.262951	5	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11608469	11608469	4791	17	C	T	T	T	221	17	DNAH9	2	2
MYOCD	93649	broad.mit.edu	37	17	12656522	12656522	+	Silent	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:12656522G>T	uc002gno.2	+	c.1917G>T	c.(1915-1917)CCG>CCT	p.P639P	MYOCD_uc002gnn.2_Silent_p.P639P|MYOCD_uc002gnp.1_Silent_p.P543P|MYOCD_uc002gnq.2_Silent_p.P358P	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	myocardin isoform 1	639					cardiac cell differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of smooth muscle contraction|regulation of smooth muscle cell differentiation|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription factor binding			central_nervous_system(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)										0.118483	28.254052	58.401335	25	186	KEEP	---	---	---	---	capture		Silent	SNP	12656522	12656522	10482	17	G	T	T	T	483	38	MYOCD	1	1
OR1D2	4991	broad.mit.edu	37	17	2996027	2996027	+	Missense_Mutation	SNP	A	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:2996027A>C	uc010vrb.1	-	c.264T>G	c.(262-264)CAT>CAG	p.H88Q		NM_002548	NP_002539	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D,	88	Extracellular (Potential).				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1														0.064103	-4.438662	41.76605	15	219	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2996027	2996027	11359	17	A	C	C	C	206	16	OR1D2	4	4
UNC45B	146862	broad.mit.edu	37	17	33475291	33475291	+	Silent	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:33475291G>A	uc002hja.2	+	c.9G>A	c.(7-9)GAG>GAA	p.E3E	UNC45B_uc002hjb.2_Silent_p.E3E|UNC45B_uc002hjc.2_Silent_p.E3E|UNC45B_uc010cto.2_Silent_p.E3E	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	cardiomyopathy associated 4 isoform 1	3					cell differentiation|muscle organ development		binding			ovary(3)|central_nervous_system(2)|breast(1)	6		Ovarian(249;0.17)												0.098592	5.166725	16.618177	7	64	KEEP	---	---	---	---	capture		Silent	SNP	33475291	33475291	17547	17	G	A	A	A	451	35	UNC45B	2	2
UNC45B	146862	broad.mit.edu	37	17	33507682	33507682	+	Missense_Mutation	SNP	T	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:33507682T>A	uc002hja.2	+	c.2366T>A	c.(2365-2367)GTG>GAG	p.V789E	UNC45B_uc002hjb.2_Missense_Mutation_p.V787E|UNC45B_uc002hjc.2_Missense_Mutation_p.V787E|UNC45B_uc010cto.2_Missense_Mutation_p.V708E	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	cardiomyopathy associated 4 isoform 1	789					cell differentiation|muscle organ development		binding			ovary(3)|central_nervous_system(2)|breast(1)	6		Ovarian(249;0.17)												0.090909	1.70506	12.837745	6	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33507682	33507682	17547	17	T	A	A	A	767	59	UNC45B	3	3
ACACA	31	broad.mit.edu	37	17	35766360	35766360	+	Missense_Mutation	SNP	C	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:35766360C>G	uc002hno.2	-	c.30G>C	c.(28-30)TTG>TTC	p.L10F	ACACA_uc002hnn.2_5'UTR|ACACA_uc002hnq.2_5'UTR|TADA2A_uc002hnt.2_5'Flank|TADA2A_uc002hnu.1_5'Flank|TADA2A_uc002hnv.2_5'Flank	NM_198834	NP_942131	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 1	Error:Variant_position_missing_in_Q13085_after_alignment					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)				742				0.107438	57.521133	113.094184	39	324	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35766360	35766360	107	17	C	G	G	G	376	29	ACACA	3	3
CDK12	51755	broad.mit.edu	37	17	37646907	37646908	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:37646907_37646908GG>TA	uc010cvv.2	+	c.2029_2030GG>TA	c.(2029-2031)GGT>TAT	p.G677Y	CDK12_uc010wef.1_Missense_Mutation_p.G676Y|CDK12_uc002hrw.3_Missense_Mutation_p.G677Y	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	677					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity|RNA polymerase II transcription factor activity			ovary(8)|lung(2)|large_intestine(1)	11										277	TCGA Ovarian(9;0.13)			0.303571	41.248351	43.180116	17	39	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	37646907	37646908	3257	17	GG	TA	TA	TA	611	47	CDK12	2	2
KRT24	192666	broad.mit.edu	37	17	38859775	38859775	+	Silent	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:38859775G>A	uc002hvd.2	-	c.171C>T	c.(169-171)AGC>AGT	p.S57S		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	keratin 24	57	Head.|Gly-rich.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.00526)				GBM(61;380 1051 14702 23642 31441)								0.289157	52.428672	55.764084	24	59	KEEP	---	---	---	---	capture		Silent	SNP	38859775	38859775	8776	17	G	A	A	A	490	38	KRT24	1	1
KRTAP4-5	85289	broad.mit.edu	37	17	39305910	39305910	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39305910C>A	uc002hwb.2	-	c.110G>T	c.(109-111)CGC>CTC	p.R37L		NM_033188	NP_149445	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	37	5.|27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)											0.076923	0.098153	7.240181	3	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39305910	39305910	8876	17	C	A	A	A	351	27	KRTAP4-5	1	1
IFI35	3430	broad.mit.edu	37	17	41166314	41166314	+	Nonstop_Mutation	SNP	T	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:41166314T>A	uc010whj.1	+	c.865T>A	c.(865-867)TAG>AAG	p.*289K		NM_005533	NP_005524	P80217	IN35_HUMAN	interferon-induced protein 35	289					response to virus|type I interferon-mediated signaling pathway	nucleus	protein binding			ovary(1)	1		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)										0.097561	1.575295	8.220971	4	37	KEEP	---	---	---	---	capture		Nonstop_Mutation	SNP	41166314	41166314	7817	17	T	A	A	A	689	53	IFI35	5	3
TBX21	30009	broad.mit.edu	37	17	45811197	45811198	+	Missense_Mutation	DNP	CG	TT	TT			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:45811197_45811198CG>TT	uc002ilv.1	+	c.377_378CG>TT	c.(376-378)GCG>GTT	p.A126V		NM_013351	NP_037483	Q9UL17	TBX21_HUMAN	T-box 21	126					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0														0.210526	7.286528	8.762939	4	15	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	45811197	45811198	16183	17	CG	TT	TT	TT	351	27	TBX21	1	1
MYST2	11143	broad.mit.edu	37	17	47875785	47875785	+	Missense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:47875785C>T	uc002ipm.2	+	c.445C>T	c.(445-447)CAC>TAC	p.H149Y	MYST2_uc002ipl.1_Missense_Mutation_p.H149Y|MYST2_uc010wma.1_Intron|MYST2_uc010wmb.1_Intron|MYST2_uc010wmc.1_Intron|MYST2_uc010wmd.1_5'UTR|MYST2_uc010wme.1_5'UTR	NM_007067	NP_008998	O95251	MYST2_HUMAN	MYST histone acetyltransferase 2	149					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|regulation of transcription, DNA-dependent	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3										227				0.076923	-3.024729	18.424148	9	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47875785	47875785	10498	17	C	T	T	T	377	29	MYST2	2	2
KCNH6	81033	broad.mit.edu	37	17	61623123	61623123	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:61623123C>A	uc002jay.2	+	c.2845C>A	c.(2845-2847)CTA>ATA	p.L949I	KCNH6_uc010wpl.1_Missense_Mutation_p.L790I|KCNH6_uc010wpm.1_Missense_Mutation_p.L913I|KCNH6_uc002jaz.1_Missense_Mutation_p.L860I	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	949	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|signal transduction						0					Ibutilide(DB00308)									0.206452	63.125573	75.502033	32	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61623123	61623123	8341	17	C	A	A	A	415	32	KCNH6	2	2
FBXO39	162517	broad.mit.edu	37	17	6683889	6683889	+	Silent	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:6683889C>T	uc010vtg.1	+	c.702C>T	c.(700-702)AAC>AAT	p.N234N		NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	F-box protein 39	234										ovary(1)	1														0.060606	-7.937303	12.041583	6	93	KEEP	---	---	---	---	capture		Silent	SNP	6683889	6683889	5984	17	C	T	T	T	259	20	FBXO39	2	2
NLGN2	57555	broad.mit.edu	37	17	7317997	7317997	+	Missense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7317997G>T	uc002ggt.1	+	c.674G>T	c.(673-675)GGG>GTG	p.G225V		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	neuroligin 2 precursor	225	Extracellular (Potential).				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|regulation of synaptic transmission|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	carboxylesterase activity|neurexin binding			central_nervous_system(1)	1		Prostate(122;0.157)												0.061644	-12.592991	16.639054	9	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7317997	7317997	10865	17	G	T	T	T	559	43	NLGN2	2	2
TP53	7157	broad.mit.edu	37	17	7577535	7577535	+	Missense_Mutation	SNP	C	A	A	rs67185453		TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7577535C>A	uc002gim.2	-	c.746G>T	c.(745-747)AGG>ATG	p.R249M	TP53_uc002gig.1_Missense_Mutation_p.R249M|TP53_uc002gih.2_Missense_Mutation_p.R249M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R117M|TP53_uc010cng.1_Missense_Mutation_p.R117M|TP53_uc002gii.1_Missense_Mutation_p.R117M|TP53_uc010cnh.1_Missense_Mutation_p.R249M|TP53_uc010cni.1_Missense_Mutation_p.R249M|TP53_uc002gij.2_Missense_Mutation_p.R249M|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R156M|TP53_uc002gio.2_Missense_Mutation_p.R117M	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	249	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> I (in a sporadic cancer; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.R249M(25)|p.R249T(15)|p.R249K(14)|p.0?(6)|p.R249fs*96(4)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R249_I251delRPI(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		Pancreas(47;798 1329 9957 10801)		111		690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.081081	-2.211614	11.032232	6	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7577535	7577535	16923	17	C	A	A	A	312	24	TP53	2	2
TP53	7157	broad.mit.edu	37	17	7578175	7578175	+	Splice_Site_SNP	SNP	A	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7578175A>G	uc002gim.2	-	c.672_splice	c.e6+1	p.E224_splice	TP53_uc002gig.1_Splice_Site_SNP_p.E224_splice|TP53_uc002gih.2_Splice_Site_SNP_p.E224_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_SNP_p.E92_splice|TP53_uc010cng.1_Splice_Site_SNP_p.E92_splice|TP53_uc002gii.1_Splice_Site_SNP_p.E92_splice|TP53_uc010cnh.1_Splice_Site_SNP_p.E224_splice|TP53_uc010cni.1_Splice_Site_SNP_p.E224_splice|TP53_uc002gij.2_Splice_Site_SNP_p.E224_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Splice_Site_SNP_p.E131_splice|TP53_uc002gio.2_Splice_Site_SNP_p.E92_splice|TP53_uc010vug.1_Missense_Mutation_p.V186A	NM_001126112	NP_001119584			tumor protein p53 isoform a						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.?(9)|p.0?(6)|p.V225fs*24(1)|p.E224_V225insXX(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		Pancreas(47;798 1329 9957 10801)		111	(CAL120-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.093023	4.471009	11.630347	4	39	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	7578175	7578175	16923	17	A	G	G	G	130	10	TP53	5	4
AFG3L2	10939	broad.mit.edu	37	18	12340269	12340269	+	Silent	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:12340269G>A	uc002kqz.1	-	c.1911C>T	c.(1909-1911)ATC>ATT	p.I637I		NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN	AFG3 ATPase family gene 3-like 2	637					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding				0					Adenosine triphosphate(DB00171)									0.031128	-45.639733	16.254466	8	249	KEEP	---	---	---	---	capture		Silent	SNP	12340269	12340269	361	18	G	A	A	A	421	33	AFG3L2	2	2
SMCHD1	23347	broad.mit.edu	37	18	2752505	2752505	+	Missense_Mutation	SNP	A	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:2752505A>G	uc002klm.3	+	c.4301A>G	c.(4300-4302)AAT>AGT	p.N1434S	SMCHD1_uc002klk.3_Non-coding_Transcript|SMCHD1_uc002kll.3_Non-coding_Transcript	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	1434					chromosome organization		ATP binding				0														0.115385	5.005747	8.793699	3	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2752505	2752505	15286	18	A	G	G	G	52	4	SMCHD1	4	4
CELF4	56853	broad.mit.edu	37	18	35145565	35145565	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:35145565C>A	uc002lae.2	-	c.40G>T	c.(40-42)GAC>TAC	p.D14Y	CELF4_uc010dnd.1_Missense_Mutation_p.D14Y|CELF4_uc002lag.2_Missense_Mutation_p.D14Y|CELF4_uc002laf.2_Missense_Mutation_p.D10Y|CELF4_uc002lai.2_Missense_Mutation_p.D10Y	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	14	Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			ovary(2)	2														0.104167	0.798141	8.418392	5	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35145565	35145565	3351	18	C	A	A	A	377	29	CELF4	2	2
KIAA1468	57614	broad.mit.edu	37	18	59878389	59878389	+	Missense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:59878389G>T	uc002lil.2	+	c.530G>T	c.(529-531)CGA>CTA	p.R177L	KIAA1468_uc002lik.1_Missense_Mutation_p.R177L|KIAA1468_uc010xel.1_Missense_Mutation_p.R177L	NM_020854	NP_065905	Q9P260	K1468_HUMAN	hypothetical protein LOC57614	177							binding			ovary(2)|breast(2)|large_intestine(1)	5		Colorectal(73;0.186)												0.055556	-4.216228	7.001855	3	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59878389	59878389	8545	18	G	T	T	T	481	37	KIAA1468	1	1
CD226	10666	broad.mit.edu	37	18	67563198	67563198	+	Missense_Mutation	SNP	T	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:67563198T>C	uc010dqo.2	-	c.466A>G	c.(466-468)ATG>GTG	p.M156V	CD226_uc002lkm.3_Missense_Mutation_p.M156V	NM_006566	NP_006557	Q15762	CD226_HUMAN	CD226 molecule precursor	156	Ig-like C2-type 2.|Extracellular (Potential).				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity				0		Esophageal squamous(42;0.129)				NSCLC(184;838 2130 8673 21498 50749)								0.15625	22.522269	29.729578	10	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67563198	67563198	3113	18	T	C	C	C	650	50	CD226	4	4
ZNF236	7776	broad.mit.edu	37	18	74606978	74606978	+	Missense_Mutation	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:74606978G>A	uc002lmi.2	+	c.1421G>A	c.(1420-1422)CGC>CAC	p.R474H	ZNF236_uc002lmj.2_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	474					cellular response to glucose stimulus|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)										0.112782	12.368137	32.026311	15	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74606978	74606978	18380	18	G	A	A	A	494	38	ZNF236	1	1
PPP4R1	9989	broad.mit.edu	37	18	9550049	9550049	+	Splice_Site_SNP	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:9550049C>A	uc002koe.1	-	c.2547_splice	c.e18+1	p.Q849_splice	PPP4R1_uc002kof.2_Splice_Site_SNP_p.Q266_splice|PPP4R1_uc010wzo.1_Splice_Site_SNP_p.Q695_splice|PPP4R1_uc002kod.1_Splice_Site_SNP_p.Q832_splice	NM_001042388	NP_001035847			protein phosphatase 4, regulatory subunit 1						protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity				0						Melanoma(188;1232 2082 5061 11948 35994)								0.114943	11.782898	24.49707	10	77	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	9550049	9550049	12839	18	C	A	A	A	234	18	PPP4R1	5	2
ICAM3	3385	broad.mit.edu	37	19	10445249	10445249	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10445249C>A	uc002mob.2	-	c.1147G>T	c.(1147-1149)GGC>TGC	p.G383C	RAVER1_uc002moa.2_5'Flank|ICAM3_uc010dxd.1_Missense_Mutation_p.G306C	NM_002162	NP_002153	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3 precursor	383	Extracellular (Potential).				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)											0.191489	18.34575	22.528216	9	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10445249	10445249	7781	19	C	A	A	A	299	23	ICAM3	1	1
AMH	268	broad.mit.edu	37	19	2249448	2249448	+	Silent	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:2249448C>T	uc002lvh.2	+	c.117C>T	c.(115-117)TTC>TTT	p.F39F		NM_000479	NP_000470	P03971	MIS_HUMAN	anti-Mullerian hormone precursor	39					cell differentiation|cell-cell signaling|gonadal mesoderm development|Mullerian duct regression|sex determination	extracellular space	growth factor activity|hormone activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)										0.294118	12.767678	13.412979	5	12	KEEP	---	---	---	---	capture		Silent	SNP	2249448	2249448	575	19	C	T	T	T	389	30	AMH	2	2
TSHZ3	57616	broad.mit.edu	37	19	31769680	31769680	+	Missense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31769680G>T	uc002nsy.3	-	c.1019C>A	c.(1018-1020)ACC>AAC	p.T340N		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	340					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)													0.066838	-19.954062	55.700599	26	363	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31769680	31769680	17176	19	G	T	T	T	572	44	TSHZ3	2	2
ZNF181	339318	broad.mit.edu	37	19	35231797	35231797	+	Missense_Mutation	SNP	T	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:35231797T>C	uc002nvu.3	+	c.511T>C	c.(511-513)TCT>CCT	p.S171P	ZNF181_uc010xsa.1_Missense_Mutation_p.S170P|ZNF181_uc010xsb.1_Missense_Mutation_p.S170P|ZNF181_uc010xsc.1_Missense_Mutation_p.S106P	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	zinc finger protein 181 isoform 1	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)											0.58156	313.479946	314.300009	82	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35231797	35231797	18340	19	T	C	C	C	806	62	ZNF181	4	4
DMKN	93099	broad.mit.edu	37	19	36003604	36003604	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36003604C>A	uc002nzm.3	-	c.515G>T	c.(514-516)TGG>TTG	p.W172L	DMKN_uc002nzj.2_5'Flank|DMKN_uc002nzk.3_5'Flank|DMKN_uc002nzl.3_5'Flank|DMKN_uc002nzo.3_Missense_Mutation_p.W172L|DMKN_uc002nzn.3_Missense_Mutation_p.W172L|DMKN_uc002nzw.2_5'Flank|DMKN_uc002nzr.2_5'Flank|DMKN_uc002nzp.2_5'Flank|DMKN_uc002nzq.2_5'Flank|DMKN_uc002nzt.2_5'Flank|DMKN_uc002nzs.2_5'Flank|DMKN_uc002nzu.2_5'Flank|DMKN_uc002nzv.2_5'Flank|DMKN_uc010xsv.1_5'Flank|DMKN_uc010xsw.1_5'Flank|DMKN_uc002nzx.3_5'Flank|DMKN_uc002nzy.3_5'Flank|DMKN_uc002nzz.2_5'Flank|DMKN_uc002oac.3_Missense_Mutation_p.W172L|DMKN_uc010eeb.2_Missense_Mutation_p.W172L|DMKN_uc002oaa.3_Missense_Mutation_p.W172L|DMKN_uc002oab.3_Missense_Mutation_p.W172L	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine isoform 2 precursor	172	Gly-rich.					extracellular region				large_intestine(1)|ovary(1)	2	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)											0.071066	-9.50012	27.864443	14	183	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36003604	36003604	4762	19	C	A	A	A	273	21	DMKN	2	2
ZNF571	51276	broad.mit.edu	37	19	38056034	38056034	+	Missense_Mutation	SNP	T	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38056034T>A	uc002ogt.2	-	c.1296A>T	c.(1294-1296)AAA>AAT	p.K432N	ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|ZNF571_uc010efp.2_Missense_Mutation_p.K432N	NM_016536	NP_057620	Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	432	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)											0.076923	-5.14243	18.686451	10	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38056034	38056034	18598	19	T	A	A	A	777	60	ZNF571	3	3
RYR1	6261	broad.mit.edu	37	19	38954167	38954167	+	Silent	SNP	G	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38954167G>C	uc002oit.2	+	c.2682G>C	c.(2680-2682)CCG>CCC	p.P894P	RYR1_uc002oiu.2_Silent_p.P894P	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	894	1.|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)									0.722222	112.409236	114.729977	39	15	KEEP	---	---	---	---	capture		Silent	SNP	38954167	38954167	14248	19	G	C	C	C	496	39	RYR1	3	3
PRX	57716	broad.mit.edu	37	19	40900895	40900895	+	Nonsense_Mutation	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:40900895G>A	uc002onr.2	-	c.3364C>T	c.(3364-3366)CAG>TAG	p.Q1122*	PRX_uc002onq.2_Nonsense_Mutation_p.Q983*|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	1122	Glu-rich (acidic).				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)											0.045455	-32.538522	16.042928	10	210	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	40900895	40900895	13093	19	G	A	A	A	598	46	PRX	5	2
ADCK4	79934	broad.mit.edu	37	19	41220467	41220467	+	Missense_Mutation	SNP	C	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:41220467C>G	uc002oor.2	-	c.71G>C	c.(70-72)TGT>TCT	p.C24S	ADCK4_uc002ooq.1_Missense_Mutation_p.C24S|ADCK4_uc002oos.2_Missense_Mutation_p.C24S|ITPKC_uc002oot.2_5'Flank	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4 isoform a	24						integral to membrane	protein serine/threonine kinase activity				0			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)							88				0.039437	-50.660306	30.586764	14	341	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41220467	41220467	291	19	C	G	G	G	221	17	ADCK4	3	3
MEGF8	1954	broad.mit.edu	37	19	42866259	42866259	+	Missense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:42866259C>T	uc002otl.3	+	c.5537C>T	c.(5536-5538)TCC>TTC	p.S1846F	MEGF8_uc002otm.3_Missense_Mutation_p.S1454F	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1913	Extracellular (Potential).|PSI 4.					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)												0.238095	11.265944	12.581038	5	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42866259	42866259	9852	19	C	T	T	T	390	30	MEGF8	2	2
CARD8	22900	broad.mit.edu	37	19	48735020	48735020	+	Missense_Mutation	SNP	T	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:48735020T>C	uc010xzk.1	-	c.196A>G	c.(196-198)AAA>GAA	p.K66E	CARD8_uc002pii.3_Missense_Mutation_p.K147E|CARD8_uc010xzi.1_Missense_Mutation_p.K42E|CARD8_uc010els.2_Missense_Mutation_p.K80E|CARD8_uc010xzj.1_Missense_Mutation_p.K147E|CARD8_uc002pie.3_Missense_Mutation_p.K42E|CARD8_uc002pif.3_Missense_Mutation_p.K42E|CARD8_uc002pig.3_5'UTR|CARD8_uc002pih.3_Missense_Mutation_p.K97E|CARD8_uc010xzl.1_Missense_Mutation_p.K97E|CARD8_uc010xzm.1_Missense_Mutation_p.K147E	NM_014959	NP_055774	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	42					apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity				0		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)										0.253731	109.700784	117.066614	34	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48735020	48735020	2770	19	T	C	C	C	793	61	CARD8	4	4
SIGLEC7	27036	broad.mit.edu	37	19	51656446	51656446	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51656446C>A	uc002pvv.1	+	c.1348C>A	c.(1348-1350)CTA>ATA	p.L450I	SIGLEC7_uc002pvw.1_Missense_Mutation_p.L357I|SIGLEC7_uc010eoq.1_Non-coding_Transcript|SIGLEC7_uc010eor.1_3'UTR	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7 isoform 1	450	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			large_intestine(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)										0.252874	52.206487	57.032743	22	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51656446	51656446	14808	19	C	A	A	A	311	24	SIGLEC7	2	2
ZNF808	388558	broad.mit.edu	37	19	53057748	53057748	+	Missense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53057748G>T	uc010epq.1	+	c.1579G>T	c.(1579-1581)GTA>TTA	p.V527L	ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.1_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	527	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)										0.222222	117.745962	133.706969	50	175	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53057748	53057748	18771	19	G	T	T	T	624	48	ZNF808	2	2
ZNF331	55422	broad.mit.edu	37	19	54080224	54080224	+	Missense_Mutation	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54080224G>A	uc002qbx.1	+	c.410G>A	c.(409-411)GGG>GAG	p.G137E	ZNF331_uc002qby.1_Missense_Mutation_p.G137E|ZNF331_uc002qbz.1_Missense_Mutation_p.G137E|ZNF331_uc002qca.1_Missense_Mutation_p.G137E|ZNF331_uc010eqr.1_Missense_Mutation_p.G137E|ZNF331_uc002qcb.1_Missense_Mutation_p.G137E|ZNF331_uc002qcc.1_Missense_Mutation_p.G137E|ZNF331_uc002qcd.1_Missense_Mutation_p.G137E	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	137	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00555)						85				0.216418	69.844557	79.755416	29	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54080224	54080224	18441	19	G	A	A	A	559	43	ZNF331	2	2
DPRX	503834	broad.mit.edu	37	19	54139992	54139992	+	Missense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54139992G>T	uc002qcf.1	+	c.326G>T	c.(325-327)AGA>ATA	p.R109I		NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	109					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)										0.179104	39.205835	52.208567	24	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54139992	54139992	4922	19	G	T	T	T	429	33	DPRX	2	2
LILRB5	10990	broad.mit.edu	37	19	54754668	54754668	+	Silent	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54754668G>A	uc002qey.2	-	c.1758C>T	c.(1756-1758)GCC>GCT	p.A586A	LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_3'UTR|LILRB5_uc002qex.2_Silent_p.A585A|LILRB5_uc002qez.2_Silent_p.A486A|LILRB5_uc002qfa.1_3'UTR	NM_001081442	NP_001074911	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor,	585	Cytoplasmic (Potential).|ITIM motif 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			ovary(1)|pancreas(1)	2	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)										0.098361	4.159931	24.016907	12	110	KEEP	---	---	---	---	capture		Silent	SNP	54754668	54754668	9120	19	G	A	A	A	548	43	LILRB5	2	2
NLRP7	199713	broad.mit.edu	37	19	55452324	55452324	+	Silent	SNP	T	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55452324T>C	uc010esl.2	-	c.411A>G	c.(409-411)GAA>GAG	p.E137E	NLRP7_uc002qig.3_Silent_p.E109E|NLRP7_uc002qii.3_Silent_p.E109E|NLRP7_uc002qih.3_Silent_p.E109E|NLRP7_uc010esk.2_Silent_p.E109E	NM_001127255	NP_001120727	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	109							ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)										0.142857	82.903373	114.732221	37	222	KEEP	---	---	---	---	capture		Silent	SNP	55452324	55452324	10885	19	T	C	C	C	725	56	NLRP7	4	4
SBK2	646643	broad.mit.edu	37	19	56042603	56042603	+	Silent	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56042603C>T	uc010ygc.1	-	c.363G>A	c.(361-363)ACG>ACA	p.T121T		NM_001101401	NP_001094871	P0C263	SBK2_HUMAN	SH3-binding domain kinase family, member 2	121	Protein kinase.				protein phosphorylation		ATP binding|protein serine/threonine kinase activity				0										53				0.1	4.073125	15.263269	7	63	KEEP	---	---	---	---	capture		Silent	SNP	56042603	56042603	14342	19	C	T	T	T	288	23	SBK2	1	1
ZNF211	10520	broad.mit.edu	37	19	58152630	58152631	+	Missense_Mutation	DNP	GC	TT	TT			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58152630_58152631GC>TT	uc002qps.2	+	c.971_972GC>TT	c.(970-972)TGC>TTT	p.C324F	ZNF211_uc010yhb.1_Missense_Mutation_p.C263F|ZNF211_uc002qpp.2_Missense_Mutation_p.C272F|ZNF211_uc002qpq.2_Missense_Mutation_p.C259F|ZNF211_uc002qpr.2_Missense_Mutation_p.C323F|ZNF211_uc002qpt.2_Missense_Mutation_p.C271F|ZNF211_uc010yhc.1_Missense_Mutation_p.C271F|ZNF211_uc010yhd.1_Missense_Mutation_p.C198F|ZNF211_uc010yhe.1_Missense_Mutation_p.C250F	NM_006385	NP_006376	Q13398	ZN211_HUMAN	zinc finger protein 211 isoform 1	259	C2H2-type 2.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)										0.178744	78.340709	98.453479	37	170	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	58152630	58152631	18358	19	GC	TT	TT	TT	598	46	ZNF211	2	2
ZNF418	147686	broad.mit.edu	37	19	58437834	58437834	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58437834C>A	uc002qqs.1	-	c.1715G>T	c.(1714-1716)GGG>GTG	p.G572V	ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Missense_Mutation_p.G487V	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	zinc finger protein 418	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)										0.179487	39.404108	50.712903	21	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58437834	58437834	18488	19	C	A	A	A	286	22	ZNF418	2	2
C19orf18	147685	broad.mit.edu	37	19	58477923	58477923	+	Missense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58477923C>T	uc002qqv.2	-	c.346G>A	c.(346-348)GGG>AGG	p.G116R		NM_152474	NP_689687	Q8NEA5	CS018_HUMAN	hypothetical protein LOC147685 precursor	116	Helical; (Potential).					integral to membrane				ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)										0.050847	-5.628088	6.982927	3	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58477923	58477923	1972	19	C	T	T	T	273	21	C19orf18	2	2
MUC16	94025	broad.mit.edu	37	19	9046507	9046507	+	Silent	SNP	A	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9046507A>G	uc002mkp.2	-	c.35124T>C	c.(35122-35124)TTT>TTC	p.F11708F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11710	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														0.238095	90.092592	97.982527	30	96	KEEP	---	---	---	---	capture		Silent	SNP	9046507	9046507	10367	19	A	G	G	G	11	1	MUC16	4	4
KIF1B	23095	broad.mit.edu	37	1	10412785	10412785	+	Missense_Mutation	SNP	A	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:10412785A>G	uc001aqz.2	+	c.4046A>G	c.(4045-4047)AAC>AGC	p.N1349S	KIF1B_uc001aqw.3_Missense_Mutation_p.N1303S|KIF1B_uc001aqx.3_Missense_Mutation_p.N1349S|KIF1B_uc001aqy.2_Missense_Mutation_p.N1323S|KIF1B_uc001ara.2_Missense_Mutation_p.N1309S|KIF1B_uc001arb.2_Missense_Mutation_p.N1335S	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	1349					anterograde axon cargo transport|apoptosis|nerve-nerve synaptic transmission|neuromuscular synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)	2	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)										0.163462	38.7872	50.029235	17	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10412785	10412785	8595	1	A	G	G	G	26	2	KIF1B	4	4
SRM	6723	broad.mit.edu	37	1	11116146	11116146	+	Missense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:11116146C>T	uc001arz.1	-	c.541G>A	c.(541-543)GCC>ACC	p.A181T	SRM_uc001ary.1_Missense_Mutation_p.A42T	NM_003132	NP_003123	P19623	SPEE_HUMAN	spermidine synthase	181					spermidine biosynthetic process	cytosol	spermidine synthase activity				0	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)|Spermine(DB00127)									0.205128	16.079009	19.224707	8	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11116146	11116146	15665	1	C	T	T	T	351	27	SRM	1	1
KCNA3	3738	broad.mit.edu	37	1	111216208	111216208	+	Silent	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:111216208C>T	uc001dzv.1	-	c.1224G>A	c.(1222-1224)GGG>GGA	p.G408G		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	408	Helical; Name=Segment S5; (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)										0.1	4.112993	15.276475	7	63	KEEP	---	---	---	---	capture		Silent	SNP	111216208	111216208	8309	1	C	T	T	T	275	22	KCNA3	2	2
PRDM2	7799	broad.mit.edu	37	1	14108797	14108797	+	Missense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:14108797G>T	uc001avi.2	+	c.4507G>T	c.(4507-4509)GCA>TCA	p.A1503S	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.A1503S|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.A1302S|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1503					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)										0.116667	31.654205	75.220175	35	265	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14108797	14108797	12900	1	G	T	T	T	598	46	PRDM2	2	2
CHD1L	9557	broad.mit.edu	37	1	146747843	146747843	+	Silent	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:146747843G>A	uc001epm.3	+	c.1461G>A	c.(1459-1461)CTG>CTA	p.L487L	CHD1L_uc001epn.3_Silent_p.L374L|CHD1L_uc010ozo.1_Non-coding_Transcript|CHD1L_uc009wjg.2_Non-coding_Transcript|CHD1L_uc009wjh.2_Silent_p.L393L|CHD1L_uc010ozp.1_Silent_p.L206L|CHD1L_uc001epo.3_Silent_p.L283L|CHD1L_uc010ozq.1_Silent_p.L60L|CHD1L_uc009wji.2_Silent_p.L206L	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein	487	Helicase C-terminal.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(3)|lung(2)	5	all_hematologic(923;0.0487)													0.1	3.734067	21.335953	11	99	KEEP	---	---	---	---	capture		Silent	SNP	146747843	146747843	3458	1	G	A	A	A	587	46	CHD1L	2	2
SF3B4	10262	broad.mit.edu	37	1	149898396	149898396	+	Missense_Mutation	SNP	C	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:149898396C>G	uc001etj.1	-	c.578G>C	c.(577-579)CGA>CCA	p.R193P	SF3B4_uc001eti.1_5'Flank|SF3B4_uc001etk.1_Missense_Mutation_p.R193P|SF3B4_uc009wll.1_Missense_Mutation_p.R193P	NM_005850	NP_005841	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4	193					nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			ovary(1)	1	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)											0.165468	57.439285	72.196257	23	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149898396	149898396	14642	1	C	G	G	G	403	31	SF3B4	3	3
HRNR	388697	broad.mit.edu	37	1	152188299	152188299	+	Missense_Mutation	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152188299G>A	uc001ezt.1	-	c.5806C>T	c.(5806-5808)CAC>TAC	p.H1936Y		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	1936	21.				keratinization		calcium ion binding|protein binding			ovary(1)	1	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.029412	-121.346565	27.629891	18	594	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152188299	152188299	7653	1	G	A	A	A	611	47	HRNR	2	2
HRNR	388697	broad.mit.edu	37	1	152191001	152191001	+	Nonsense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152191001G>T	uc001ezt.1	-	c.3104C>A	c.(3103-3105)TCA>TAA	p.S1035*		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	1035	12.				keratinization		calcium ion binding|protein binding			ovary(1)	1	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.043011	-62.091254	21.427995	16	356	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	152191001	152191001	7653	1	G	T	T	T	585	45	HRNR	5	2
HRNR	388697	broad.mit.edu	37	1	152191909	152191909	+	Silent	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152191909C>T	uc001ezt.1	-	c.2196G>A	c.(2194-2196)AGG>AGA	p.R732R		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	732	7.				keratinization		calcium ion binding|protein binding			ovary(1)	1	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.082508	-0.423732	53.272035	25	278	KEEP	---	---	---	---	capture		Silent	SNP	152191909	152191909	7653	1	C	T	T	T	233	18	HRNR	2	2
SPRR2E	6704	broad.mit.edu	37	1	153066017	153066017	+	Missense_Mutation	SNP	T	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:153066017T>C	uc001fbh.2	-	c.211A>G	c.(211-213)AGC>GGC	p.S71G	SPRR2D_uc009wnz.2_Intron|SPRR2A_uc001fbf.2_Intron|SPRR2A_uc009woa.2_Intron	NM_001024209	NP_001019380	P22531	SPR2E_HUMAN	small proline-rich protein 2E	71					keratinization	cornified envelope|cytoplasm	protein binding|structural molecule activity			ovary(1)	1	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)											0.093525	37.003564	106.273564	39	378	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153066017	153066017	15614	1	T	C	C	C	702	54	SPRR2E	4	4
PIGM	93183	broad.mit.edu	37	1	160001425	160001425	+	Silent	SNP	A	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160001425A>G	uc001fuv.1	-	c.105T>C	c.(103-105)TAT>TAC	p.Y35Y		NM_145167	NP_660150	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	35	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				ovary(2)|skin(1)	3	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)											0.352941	231.45051	235.679181	78	143	KEEP	---	---	---	---	capture		Silent	SNP	160001425	160001425	12316	1	A	G	G	G	102	8	PIGM	4	4
COPA	1314	broad.mit.edu	37	1	160268767	160268767	+	Silent	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160268767C>T	uc001fvv.3	-	c.1872G>A	c.(1870-1872)GTG>GTA	p.V624V	COPA_uc009wti.2_Silent_p.V615V	NM_001098398	NP_001091868	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha isoform	615					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			ovary(1)	1	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)											0.040268	-24.085554	9.860425	6	143	KEEP	---	---	---	---	capture		Silent	SNP	160268767	160268767	3865	1	C	T	T	T	366	29	COPA	2	2
COPA	1314	broad.mit.edu	37	1	160275308	160275308	+	Missense_Mutation	SNP	T	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160275308T>C	uc001fvv.3	-	c.1609A>G	c.(1609-1611)ATT>GTT	p.I537V	COPA_uc009wti.2_Missense_Mutation_p.I528V|COPA_uc009wtj.1_Missense_Mutation_p.I474V	NM_001098398	NP_001091868	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha isoform	528					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			ovary(1)	1	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)											0.072368	-3.981238	24.615908	11	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160275308	160275308	3865	1	T	C	C	C	663	51	COPA	4	4
DDR2	4921	broad.mit.edu	37	1	162745571	162745571	+	Silent	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:162745571C>A	uc001gcf.2	+	c.1986C>A	c.(1984-1986)CTC>CTA	p.L662L	DDR2_uc001gcg.2_Silent_p.L662L	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	662	Cytoplasmic (Potential).|Protein kinase.				cell adhesion|protein phosphorylation	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			NSCLC(161;314 2006 8283 19651 23192)				497				0.032258	-35.393578	9.088519	6	180	KEEP	---	---	---	---	capture		Silent	SNP	162745571	162745571	4508	1	C	A	A	A	366	29	DDR2	2	2
NUF2	83540	broad.mit.edu	37	1	163295923	163295923	+	Missense_Mutation	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:163295923G>A	uc001gcq.1	+	c.82G>A	c.(82-84)GGT>AGT	p.G28S	NUF2_uc001gcp.2_Missense_Mutation_p.G28S|NUF2_uc001gcr.1_Missense_Mutation_p.G28S|NUF2_uc009wvc.1_Missense_Mutation_p.G28S	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	28	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			ovary(3)	3	all_hematologic(923;0.101)													0.218391	42.573901	48.936771	19	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	163295923	163295923	11152	1	G	A	A	A	611	47	NUF2	2	2
CLCNKB	1188	broad.mit.edu	37	1	16375653	16375653	+	Missense_Mutation	SNP	T	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:16375653T>C	uc001axw.3	+	c.694T>C	c.(694-696)TCT>CCT	p.S232P	FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.S232P|CLCNKB_uc001axy.3_Missense_Mutation_p.S63P	NM_000085	NP_000076	P51801	CLCKB_HUMAN	chloride channel Kb isoform 1	232					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity				0		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)										0.08284	4.027273	33.938833	14	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16375653	16375653	3606	1	T	C	C	C	702	54	CLCNKB	4	4
RXRG	6258	broad.mit.edu	37	1	165378824	165378824	+	Silent	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:165378824G>A	uc001gda.2	-	c.1017C>T	c.(1015-1017)CAC>CAT	p.H339H		NM_006917	NP_008848	P48443	RXRG_HUMAN	retinoid X receptor, gamma isoform a	339	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)									0.590909	37.476282	37.634858	13	9	KEEP	---	---	---	---	capture		Silent	SNP	165378824	165378824	14245	1	G	A	A	A	620	48	RXRG	2	2
GORAB	92344	broad.mit.edu	37	1	170521505	170521505	+	Missense_Mutation	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:170521505G>A	uc001gha.2	+	c.1087G>A	c.(1087-1089)GTA>ATA	p.V363I	GORAB_uc009wvx.2_Missense_Mutation_p.V183I|GORAB_uc001ghb.2_Missense_Mutation_p.V183I|GORAB_uc001ghc.2_Missense_Mutation_p.V183I|GORAB_uc001ghd.2_Missense_Mutation_p.V156I	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting isoform a	363	Necessary for interaction with RCHY1.					Golgi apparatus|nucleus					0														0.081871	-1.625577	28.765752	14	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170521505	170521505	6847	1	G	A	A	A	572	44	GORAB	2	2
PAPPA2	60676	broad.mit.edu	37	1	176762792	176762792	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176762792C>A	uc001gkz.2	+	c.5117C>A	c.(5116-5118)CCT>CAT	p.P1706H	PAPPA2_uc009www.2_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1706	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|lung(1)|breast(1)	14														0.070796	-5.198812	16.278783	8	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176762792	176762792	11850	1	C	A	A	A	312	24	PAPPA2	2	2
TDRD5	163589	broad.mit.edu	37	1	179659996	179659996	+	Missense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:179659996C>T	uc010pnp.1	+	c.3026C>T	c.(3025-3027)GCT>GTT	p.A1009V	TDRD5_uc001gnf.1_Missense_Mutation_p.A955V|TDRD5_uc001gnh.1_Missense_Mutation_p.A510V	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	955					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			ovary(2)|central_nervous_system(1)|skin(1)	4														0.075472	-0.544891	9.252149	4	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179659996	179659996	16260	1	C	T	T	T	364	28	TDRD5	2	2
ZNF648	127665	broad.mit.edu	37	1	182026889	182026889	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:182026889C>A	uc001goz.2	-	c.257G>T	c.(256-258)AGT>ATT	p.S86I		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						NSCLC(71;908 1374 5429 20458 35642)								0.16	41.994535	58.515625	24	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	182026889	182026889	18658	1	C	A	A	A	260	20	ZNF648	2	2
HMCN1	83872	broad.mit.edu	37	1	185834871	185834871	+	Splice_Site_SNP	SNP	A	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:185834871A>C	uc001grq.1	+	c.499_splice	c.e4-2	p.V167_splice		NM_031935	NP_114141			hemicentin 1 precursor						bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.078947	0.708383	7.575808	3	35	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	185834871	185834871	7511	1	A	C	C	C	195	15	HMCN1	5	4
HMCN1	83872	broad.mit.edu	37	1	185984418	185984418	+	Missense_Mutation	SNP	G	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:185984418G>C	uc001grq.1	+	c.4758G>C	c.(4756-4758)CAG>CAC	p.Q1586H		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1586	Ig-like C2-type 13.				bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.102041	4.740409	12.482652	5	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	185984418	185984418	7511	1	G	C	C	C	438	34	HMCN1	3	3
HMCN1	83872	broad.mit.edu	37	1	186064444	186064444	+	Missense_Mutation	SNP	T	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:186064444T>C	uc001grq.1	+	c.10364T>C	c.(10363-10365)ATG>ACG	p.M3455T		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3455	Ig-like C2-type 33.				bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.0625	-3.549233	9.213403	4	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186064444	186064444	7511	1	T	C	C	C	663	51	HMCN1	4	4
CTSE	1510	broad.mit.edu	37	1	206327587	206327587	+	Missense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:206327587C>T	uc001hdu.2	+	c.776C>T	c.(775-777)GCA>GTA	p.A259V	CTSE_uc001hdv.2_Missense_Mutation_p.A259V|CTSE_uc010prs.1_Missense_Mutation_p.A184V	NM_001910	NP_001901	P14091	CATE_HUMAN	cathepsin E isoform a preproprotein	264					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(75;0.0754)											0.057252	-28.308568	25.640026	15	247	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	206327587	206327587	4192	1	C	T	T	T	325	25	CTSE	2	2
ECE1	1889	broad.mit.edu	37	1	21560098	21560098	+	Silent	SNP	T	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:21560098T>C	uc001bek.2	-	c.1623A>G	c.(1621-1623)TCA>TCG	p.S541S	ECE1_uc001bem.2_Silent_p.S525S|ECE1_uc001bej.2_Silent_p.S529S|ECE1_uc001bei.2_Silent_p.S538S|ECE1_uc010odl.1_Silent_p.S541S|ECE1_uc009vqa.1_Silent_p.S541S	NM_001397	NP_001388	P42892	ECE1_HUMAN	endothelin converting enzyme 1 isoform 1	541	Extracellular (Potential).				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|peptide hormone binding|protein homodimerization activity			ovary(2)	2		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)										0.20339	28.174868	32.988413	12	47	KEEP	---	---	---	---	capture		Silent	SNP	21560098	21560098	5076	1	T	C	C	C	652	51	ECE1	4	4
USH2A	7399	broad.mit.edu	37	1	215953238	215953238	+	Missense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:215953238C>T	uc001hku.1	-	c.10886G>A	c.(10885-10887)GGG>GAG	p.G3629E		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3629	Extracellular (Potential).|Fibronectin type-III 21.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.054264	-12.287848	14.733273	7	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	215953238	215953238	17598	1	C	T	T	T	286	22	USH2A	2	2
USH2A	7399	broad.mit.edu	37	1	216052334	216052334	+	Missense_Mutation	SNP	C	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216052334C>G	uc001hku.1	-	c.8330G>C	c.(8329-8331)AGT>ACT	p.S2777T		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2777	Fibronectin type-III 14.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.043243	-20.867858	20.50982	8	177	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216052334	216052334	17598	1	C	G	G	G	260	20	USH2A	3	3
EPHA8	2046	broad.mit.edu	37	1	22902781	22902781	+	Silent	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:22902781C>T	uc001bfx.1	+	c.231C>T	c.(229-231)AGC>AGT	p.S77S	EPHA8_uc001bfw.2_Silent_p.S77S	NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	77	Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|lung(2)|breast(2)|large_intestine(1)|stomach(1)|skin(1)	12		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)						520				0.097015	3.708288	25.493863	13	121	KEEP	---	---	---	---	capture		Silent	SNP	22902781	22902781	5366	1	C	T	T	T	337	26	EPHA8	2	2
PCNXL2	80003	broad.mit.edu	37	1	233190059	233190059	+	Nonsense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:233190059C>A	uc001hvl.2	-	c.4306G>T	c.(4306-4308)GGA>TGA	p.G1436*	PCNXL2_uc001hvk.1_Nonsense_Mutation_p.G88*|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1436						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)												0.25	25.499949	28.003018	11	33	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	233190059	233190059	12012	1	C	A	A	A	273	21	PCNXL2	5	2
ZNF436	80818	broad.mit.edu	37	1	23688996	23688996	+	Silent	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:23688996G>A	uc001bgt.2	-	c.879C>T	c.(877-879)CTC>CTT	p.L293L	ZNF436_uc001bgu.2_Silent_p.L293L	NM_030634	NP_085137	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	293	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)										0.23913	91.575435	103.041031	44	140	KEEP	---	---	---	---	capture		Silent	SNP	23688996	23688996	18502	1	G	A	A	A	574	45	ZNF436	2	2
ZP4	57829	broad.mit.edu	37	1	238048467	238048467	+	Missense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:238048467G>T	uc001hym.2	-	c.1309C>A	c.(1309-1311)CCG>ACG	p.P437T	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	437	ZP.|Extracellular (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(1)	1	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			NSCLC(166;160 2029 11600 18754 19936)								0.126316	14.83433	27.782359	12	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	238048467	238048467	18822	1	G	T	T	T	572	44	ZP4	2	2
FMN2	56776	broad.mit.edu	37	1	240492752	240492752	+	Missense_Mutation	SNP	T	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:240492752T>A	uc010pye.1	+	c.4433T>A	c.(4432-4434)CTA>CAA	p.L1478Q	FMN2_uc010pyd.1_Missense_Mutation_p.L1474Q|FMN2_uc010pyf.1_Missense_Mutation_p.L120Q|FMN2_uc010pyg.1_Missense_Mutation_p.L70Q	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1474	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|large_intestine(1)|central_nervous_system(1)	9	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)							1289				0.095808	9.07521	36.443123	16	151	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	240492752	240492752	6192	1	T	A	A	A	689	53	FMN2	3	3
OR2C3	81472	broad.mit.edu	37	1	247694974	247694974	+	Silent	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247694974G>A	uc009xgy.2	-	c.840C>T	c.(838-840)ACC>ACT	p.T280T	C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C,	280	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)											0.137615	22.250748	36.10021	15	94	KEEP	---	---	---	---	capture		Silent	SNP	247694974	247694974	11399	1	G	A	A	A	496	39	OR2C3	1	1
OR6F1	343169	broad.mit.edu	37	1	247875404	247875404	+	Silent	SNP	A	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247875404A>G	uc001idj.1	-	c.654T>C	c.(652-654)TAT>TAC	p.Y218Y		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	218	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)											0.122449	35.69057	63.029207	24	172	KEEP	---	---	---	---	capture		Silent	SNP	247875404	247875404	11611	1	A	G	G	G	102	8	OR6F1	4	4
OR2M4	26245	broad.mit.edu	37	1	248403108	248403108	+	Missense_Mutation	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248403108G>A	uc010pzh.1	+	c.878G>A	c.(877-879)CGC>CAC	p.R293H		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M,	293	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)											0.093458	3.164171	20.953475	10	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248403108	248403108	11418	1	G	A	A	A	494	38	OR2M4	1	1
OR2T33	391195	broad.mit.edu	37	1	248436738	248436738	+	Missense_Mutation	SNP	G	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248436738G>C	uc010pzi.1	-	c.379C>G	c.(379-381)CCA>GCA	p.P127A		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T,	127	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)											0.091603	3.924084	25.922685	12	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248436738	248436738	11430	1	G	C	C	C	559	43	OR2T33	3	3
OR2T11	127077	broad.mit.edu	37	1	248789557	248789557	+	Silent	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248789557G>A	uc001ier.1	-	c.873C>T	c.(871-873)AAC>AAT	p.N291N		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T,	291	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.112676	6.047999	16.569969	8	63	KEEP	---	---	---	---	capture		Silent	SNP	248789557	248789557	11424	1	G	A	A	A	620	48	OR2T11	2	2
SESN2	83667	broad.mit.edu	37	1	28598891	28598891	+	Missense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:28598891C>T	uc001bps.2	+	c.451C>T	c.(451-453)CGG>TGG	p.R151W		NM_031459	NP_113647	P58004	SESN2_HUMAN	sestrin 2	151					cell cycle arrest	cytoplasm|nucleus				skin(3)|ovary(2)|pancreas(1)|lung(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)										0.163043	22.773609	32.701087	15	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28598891	28598891	14613	1	C	T	T	T	295	23	SESN2	1	1
PRDM16	63976	broad.mit.edu	37	1	3328888	3328888	+	Missense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:3328888G>T	uc001akf.2	+	c.2127G>T	c.(2125-2127)ATG>ATT	p.M709I	PRDM16_uc001akc.2_Missense_Mutation_p.M709I|PRDM16_uc001akd.2_Missense_Mutation_p.M709I|PRDM16_uc001ake.2_Missense_Mutation_p.M709I|PRDM16_uc009vlh.2_Missense_Mutation_p.M410I	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	709	Interaction with CTBP1 and CTBP2 (By similarity).				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription activator activity|transcription coactivator activity|transcription repressor activity|zinc ion binding			ovary(1)|lung(1)|central_nervous_system(1)	3	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)						1161				0.177778	29.25303	38.048406	16	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3328888	3328888	12899	1	G	T	T	T	611	47	PRDM16	2	2
ZMYM6	9204	broad.mit.edu	37	1	35496222	35496222	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:35496222C>A	uc001byh.2	-	c.19G>T	c.(19-21)GGT>TGT	p.G7C	ZMYM6_uc001byf.1_Missense_Mutation_p.G7C|ZMYM6_uc010oht.1_Intron|ZMYM6_uc009vup.2_Intron|ZMYM6_uc009vuq.1_Missense_Mutation_p.G7C|ZMYM6_uc009vur.1_5'UTR|ZMYM6_uc001byj.2_Missense_Mutation_p.G7C|ZMYM6_uc001byi.2_Missense_Mutation_p.G7C|ZMYM6_uc001byk.2_Missense_Mutation_p.G7C	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	zinc finger protein 258	7					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)												0.136792	42.160828	69.211974	29	183	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35496222	35496222	18295	1	C	A	A	A	273	21	ZMYM6	2	2
MACF1	23499	broad.mit.edu	37	1	39798844	39798844	+	Missense_Mutation	SNP	A	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:39798844A>T	uc010oiu.1	+	c.1904A>T	c.(1903-1905)CAA>CTA	p.Q635L	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	Error:Variant_position_missing_in_Q9UPN3_after_alignment					cell cycle arrest	cytoplasm|cytoskeleton	actin filament binding|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)	14	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)											0.096491	5.144146	23.750514	11	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39798844	39798844	9521	1	A	T	T	T	65	5	MACF1	3	3
MACF1	23499	broad.mit.edu	37	1	39929350	39929350	+	Missense_Mutation	SNP	A	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:39929350A>G	uc010oiu.1	+	c.17074A>G	c.(17074-17076)AAA>GAA	p.K5692E	MACF1_uc010ois.1_Missense_Mutation_p.K5190E|MACF1_uc001cde.1_Missense_Mutation_p.K67E|MACF1_uc001cdf.1_Missense_Mutation_p.K67E	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	5190	GAR.				cell cycle arrest	cytoplasm|cytoskeleton	actin filament binding|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)	14	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)											0.08547	9.065005	29.440265	10	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39929350	39929350	9521	1	A	G	G	G	169	13	MACF1	4	4
CYP4B1	1580	broad.mit.edu	37	1	47279668	47279668	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:47279668C>A	uc001cqn.3	+	c.708C>A	c.(706-708)TTC>TTA	p.F236L	CYP4B1_uc009vyl.1_Missense_Mutation_p.F72L|CYP4B1_uc001cqm.3_Missense_Mutation_p.F235L|CYP4B1_uc009vym.2_Missense_Mutation_p.F221L|CYP4B1_uc010omk.1_Missense_Mutation_p.F72L|CYP4B1_uc010oml.1_Missense_Mutation_p.F73L	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B,	235					oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)													0.147929	35.854629	55.981199	25	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47279668	47279668	4350	1	C	A	A	A	376	29	CYP4B1	2	2
AJAP1	55966	broad.mit.edu	37	1	4832529	4832529	+	Silent	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:4832529C>A	uc001alm.1	+	c.1107C>A	c.(1105-1107)ACC>ACA	p.T369T	AJAP1_uc001aln.2_Silent_p.T369T	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN	adherens junction associated protein 1	369	Targeting signals.|Cytoplasmic (Potential).				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				lung(1)	1	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)										0.115385	6.41325	13.989874	6	46	KEEP	---	---	---	---	capture		Silent	SNP	4832529	4832529	441	1	C	A	A	A	288	23	AJAP1	1	1
PDE4B	5142	broad.mit.edu	37	1	66713197	66713197	+	Silent	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:66713197C>A	uc001dcn.2	+	c.336C>A	c.(334-336)GCC>GCA	p.A112A	PDE4B_uc009war.2_Silent_p.A20A|PDE4B_uc001dco.2_Silent_p.A112A|PDE4B_uc001dcp.2_Silent_p.A97A	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN	phosphodiesterase 4B isoform 1	112					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)									0.097222	14.558904	73.078332	35	325	KEEP	---	---	---	---	capture		Silent	SNP	66713197	66713197	12061	1	C	A	A	A	262	21	PDE4B	2	2
RERE	473	broad.mit.edu	37	1	8420609	8420609	+	Silent	SNP	T	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:8420609T>G	uc001ape.2	-	c.2958A>C	c.(2956-2958)CCA>CCC	p.P986P	RERE_uc001apf.2_Silent_p.P986P|RERE_uc010nzx.1_Silent_p.P718P|RERE_uc001apd.2_Silent_p.P432P	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	986	Pro-rich.				multicellular organismal development|NLS-bearing substrate import into nucleus|regulation of transcription, DNA-dependent	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)										0.208333	4.839352	6.766131	5	19	KEEP	---	---	---	---	capture		Silent	SNP	8420609	8420609	13700	1	T	G	G	G	756	59	RERE	4	4
AGRN	375790	broad.mit.edu	37	1	981920	981920	+	Missense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:981920C>T	uc001ack.1	+	c.3055C>T	c.(3055-3057)CCG>TCG	p.P1019S		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	1019	Ser/Thr-rich.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)										0.214286	10.931324	13.073214	6	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	981920	981920	400	1	C	T	T	T	390	30	AGRN	2	2
LPPR4	9890	broad.mit.edu	37	1	99771306	99771306	+	Silent	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:99771306C>A	uc001dse.2	+	c.1032C>A	c.(1030-1032)CTC>CTA	p.L344L	LPPR4_uc010oue.1_Silent_p.L286L	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	344							phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)										0.129252	21.611779	41.30297	19	128	KEEP	---	---	---	---	capture		Silent	SNP	99771306	99771306	9300	1	C	A	A	A	366	29	LPPR4	2	2
FAM113A	64773	broad.mit.edu	37	20	2819264	2819264	+	Missense_Mutation	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:2819264G>A	uc002wgz.1	-	c.572C>T	c.(571-573)ACT>ATT	p.T191I	FAM113A_uc002whb.1_Silent_p.L43L|FAM113A_uc002wha.1_Silent_p.L43L|FAM113A_uc010zqa.1_Missense_Mutation_p.T38I|FAM113A_uc002whc.1_Missense_Mutation_p.T140I|VPS16_uc002whe.2_5'Flank|VPS16_uc002whf.2_5'Flank|VPS16_uc002whd.2_5'Flank	NM_022760	NP_073597	Q9H1Q7	F113A_HUMAN	hypothetical protein LOC64773	191							hydrolase activity|protein binding			ovary(2)	2														0.129771	28.179787	45.657446	17	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2819264	2819264	5598	20	G	A	A	A	468	36	FAM113A	2	2
C20orf160	140706	broad.mit.edu	37	20	30602764	30602764	+	Missense_Mutation	SNP	T	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:30602764T>G	uc002wxf.2	+	c.88T>G	c.(88-90)TGT>GGT	p.C30G		NM_080625	NP_542192	Q9NUG4	CT160_HUMAN	hypothetical protein LOC140706	30										central_nervous_system(3)|ovary(1)	4														0.126126	18.675479	33.819301	14	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30602764	30602764	2170	20	T	G	G	G	715	55	C20orf160	4	4
KIAA0406	9675	broad.mit.edu	37	20	36640042	36640042	+	Nonsense_Mutation	SNP	G	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:36640042G>C	uc002xhl.2	-	c.2177C>G	c.(2176-2178)TCA>TGA	p.S726*	KIAA0406_uc002xhm.2_Nonsense_Mutation_p.S726*	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	726							binding				0		Myeloproliferative disorder(115;0.00874)												0.1	12.012765	26.390477	9	81	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	36640042	36640042	8480	20	G	C	C	C	585	45	KIAA0406	5	3
RALGAPB	57148	broad.mit.edu	37	20	37154091	37154091	+	Missense_Mutation	SNP	G	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:37154091G>C	uc002xiw.2	+	c.1832G>C	c.(1831-1833)CGA>CCA	p.R611P	RALGAPB_uc002xix.2_Missense_Mutation_p.R611P|RALGAPB_uc002xiy.1_Missense_Mutation_p.R611P|RALGAPB_uc002xiz.2_Missense_Mutation_p.R389P|RALGAPB_uc002xja.1_Missense_Mutation_p.R338P	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	611					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)	1														0.083333	10.432549	40.056518	14	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37154091	37154091	13475	20	G	C	C	C	481	37	RALGAPB	3	3
R3HDML	140902	broad.mit.edu	37	20	42974015	42974015	+	Missense_Mutation	SNP	T	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:42974015T>C	uc002xls.1	+	c.626T>C	c.(625-627)ATT>ACT	p.I209T		NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like precursor	209						extracellular region	peptidase inhibitor activity				0		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)											0.142012	53.992396	74.866063	24	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42974015	42974015	13348	20	T	C	C	C	676	52	R3HDML	4	4
SLC12A5	57468	broad.mit.edu	37	20	44674597	44674597	+	Silent	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:44674597C>A	uc010zxl.1	+	c.1719C>A	c.(1717-1719)CTC>CTA	p.L573L	SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Silent_p.L550L	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	573	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)									0.076613	-10.979842	34.58236	19	229	KEEP	---	---	---	---	capture		Silent	SNP	44674597	44674597	14881	20	C	A	A	A	366	29	SLC12A5	2	2
SLC13A3	64849	broad.mit.edu	37	20	45242166	45242166	+	Missense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:45242166C>T	uc002xsf.1	-	c.310G>A	c.(310-312)GAG>AAG	p.E104K	SLC13A3_uc010ghn.1_Missense_Mutation_p.E73K|SLC13A3_uc010zxw.1_Missense_Mutation_p.E104K|SLC13A3_uc002xsg.1_Missense_Mutation_p.E57K|SLC13A3_uc010gho.1_Missense_Mutation_p.E57K|SLC13A3_uc010zxx.1_Missense_Mutation_p.E6K|SLC13A3_uc002xsi.3_Missense_Mutation_p.E57K	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	solute carrier family 13 member 3 isoform a	104	Extracellular (Potential).					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)									0.096154	1.535152	10.042695	5	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45242166	45242166	14888	20	C	T	T	T	377	29	SLC13A3	2	2
SNAI1	6615	broad.mit.edu	37	20	48604461	48604461	+	Silent	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:48604461C>T	uc002xuz.2	+	c.663C>T	c.(661-663)TCC>TCT	p.S221S		NM_005985	NP_005976	O95863	SNAI1_HUMAN	snail 1 homolog	221	C2H2-type 3.				epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|transcription activator activity|zinc ion binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)											0.15	30.571486	44.668923	18	102	KEEP	---	---	---	---	capture		Silent	SNP	48604461	48604461	15326	20	C	T	T	T	262	21	SNAI1	2	2
MOCS3	27304	broad.mit.edu	37	20	49576222	49576222	+	Silent	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:49576222G>A	uc002xvy.1	+	c.843G>A	c.(841-843)CTG>CTA	p.L281L	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	281					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			ovary(1)|skin(1)	2														0.224138	26.626417	30.706235	13	45	KEEP	---	---	---	---	capture		Silent	SNP	49576222	49576222	10083	20	G	A	A	A	574	45	MOCS3	2	2
ATP9A	10079	broad.mit.edu	37	20	50235517	50235517	+	Silent	SNP	C	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:50235517C>G	uc002xwg.1	-	c.2181G>C	c.(2179-2181)CTG>CTC	p.L727L	ATP9A_uc010gih.1_Silent_p.L591L|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	727	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(4)	4														0.130435	18.135119	30.35959	12	80	KEEP	---	---	---	---	capture		Silent	SNP	50235517	50235517	1217	20	C	G	G	G	262	21	ATP9A	3	3
PCNA	5111	broad.mit.edu	37	20	5096118	5096118	+	Missense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:5096118C>T	uc002wlp.2	-	c.683G>A	c.(682-684)AGT>AAT	p.S228N	C20orf30_uc010gbi.2_5'Flank|C20orf30_uc002wlk.2_5'Flank|C20orf30_uc002wll.2_5'Flank|C20orf30_uc002wlm.2_5'Flank|C20orf30_uc002wln.2_5'Flank|C20orf30_uc002wlo.2_5'Flank|PCNA_uc002wlq.2_Missense_Mutation_p.S228N	NM_182649	NP_872590	P12004	PCNA_HUMAN	proliferating cell nuclear antigen	228					cell proliferation|DNA strand elongation involved in DNA replication|mismatch repair|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|positive regulation of deoxyribonuclease activity|regulation of DNA replication|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair|translesion synthesis	cytoplasm|DNA replication factor C complex|microtubule cytoskeleton|nuclear replication fork|nucleoplasm|PCNA complex|PCNA-p21 complex	dinucleotide insertion or deletion binding|DNA polymerase processivity factor activity|MutLalpha complex binding|purine-specific mismatch base pair DNA N-glycosylase activity			lung(1)	1										90				0.127193	43.30229	74.217176	29	199	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5096118	5096118	12008	20	C	T	T	T	260	20	PCNA	2	2
ZNF217	7764	broad.mit.edu	37	20	52192873	52192873	+	Silent	SNP	A	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:52192873A>G	uc002xwq.3	-	c.2430T>C	c.(2428-2430)TCT>TCC	p.S810S	ZNF217_uc010gij.1_Silent_p.S802S	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	810					regulation of transcription, DNA-dependent	histone deacetylase complex	promoter binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding			skin(2)|large_intestine(1)|lung(1)|ovary(1)	5	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)							185				0.15625	56.677551	74.722771	25	135	KEEP	---	---	---	---	capture		Silent	SNP	52192873	52192873	18363	20	A	G	G	G	184	15	ZNF217	4	4
ZNF831	128611	broad.mit.edu	37	20	57829393	57829393	+	Missense_Mutation	SNP	G	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57829393G>C	uc002yan.2	+	c.4629G>C	c.(4627-4629)TTG>TTC	p.L1543F		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1543						intracellular	nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(29;0.0085)													0.125	19.39198	30.382226	10	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57829393	57829393	18784	20	G	C	C	C	594	46	ZNF831	3	3
MX2	4600	broad.mit.edu	37	21	42769609	42769609	+	Missense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:42769609G>T	uc002yzf.1	+	c.1140G>T	c.(1138-1140)ATG>ATT	p.M380I	MX2_uc011aer.1_Non-coding_Transcript|MX2_uc002yzg.1_Missense_Mutation_p.M103I|MX2_uc010gop.1_5'Flank	NM_002463	NP_002454	P20592	MX2_HUMAN	myxovirus resistance protein 2	380					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)												0.123077	9.750998	18.790848	8	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42769609	42769609	10392	21	G	T	T	T	598	46	MX2	2	2
ZNF295	49854	broad.mit.edu	37	21	43412010	43412010	+	Missense_Mutation	SNP	G	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:43412010G>C	uc002zab.3	-	c.2195C>G	c.(2194-2196)TCT>TGT	p.S732C	ZNF295_uc002yzz.3_Intron|ZNF295_uc002yzy.3_Missense_Mutation_p.S732C|ZNF295_uc002zaa.3_Missense_Mutation_p.S732C	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	732					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methyl-CpG binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2														0.193548	159.31688	186.488995	60	250	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43412010	43412010	18419	21	G	C	C	C	429	33	ZNF295	3	3
TCF20	6942	broad.mit.edu	37	22	42609585	42609585	+	Missense_Mutation	SNP	G	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:42609585G>C	uc003bcj.1	-	c.1727C>G	c.(1726-1728)GCC>GGC	p.A576G	TCF20_uc003bck.1_Missense_Mutation_p.A576G|TCF20_uc003bnt.2_Missense_Mutation_p.A576G	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)	4														0.235294	59.359497	64.803783	20	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42609585	42609585	16216	22	G	C	C	C	546	42	TCF20	3	3
FBLN1	2192	broad.mit.edu	37	22	45970490	45970490	+	Silent	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:45970490C>A	uc003bgj.1	+	c.1797C>A	c.(1795-1797)ACC>ACA	p.T599T		NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	599					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)										0.061224	-2.508231	7.332049	3	46	KEEP	---	---	---	---	capture		Silent	SNP	45970490	45970490	5934	22	C	A	A	A	288	23	FBLN1	1	1
SLC5A7	60482	broad.mit.edu	37	2	108622628	108622628	+	Missense_Mutation	SNP	A	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:108622628A>G	uc002tdv.2	+	c.865A>G	c.(865-867)ATA>GTA	p.I289V	SLC5A7_uc010ywm.1_Missense_Mutation_p.I42V|SLC5A7_uc010fjj.2_Missense_Mutation_p.I289V|SLC5A7_uc010ywn.1_Missense_Mutation_p.I176V	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (choline transporter),	289	Helical; (Potential).				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			ovary(2)|central_nervous_system(1)	3					Choline(DB00122)									0.131313	16.917514	29.993069	13	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108622628	108622628	15167	2	A	G	G	G	104	8	SLC5A7	4	4
EPB41L5	57669	broad.mit.edu	37	2	120776812	120776812	+	Missense_Mutation	SNP	A	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:120776812A>T	uc002tmg.2	+	c.152A>T	c.(151-153)GAT>GTT	p.D51V	EPB41L5_uc010flk.2_Missense_Mutation_p.D51V|EPB41L5_uc010fll.2_Missense_Mutation_p.D51V|EPB41L5_uc002tmh.3_Missense_Mutation_p.D51V	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	51	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1														0.091445	20.787587	77.775645	31	308	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120776812	120776812	5350	2	A	T	T	T	156	12	EPB41L5	3	3
YSK4	80122	broad.mit.edu	37	2	135743482	135743482	+	Missense_Mutation	SNP	G	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:135743482G>C	uc002tue.1	-	c.2960C>G	c.(2959-2961)TCT>TGT	p.S987C	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.S874C|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.S715C|YSK4_uc002tui.3_Missense_Mutation_p.S1004C	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Yeast Sps1/Ste20-related kinase 4 isoform 1	987					protein phosphorylation		ATP binding|protein serine/threonine kinase activity			stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5				BRCA - Breast invasive adenocarcinoma(221;0.112)						411				0.182796	49.018586	57.802842	17	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135743482	135743482	18078	2	G	C	C	C	429	33	YSK4	3	3
SPOPL	339745	broad.mit.edu	37	2	139322350	139322350	+	Missense_Mutation	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:139322350G>A	uc002tvh.2	+	c.910G>A	c.(910-912)GAT>AAT	p.D304N		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	304						nucleus				breast(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.0296)										0.072072	-5.090077	36.777836	16	206	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139322350	139322350	15598	2	G	A	A	A	429	33	SPOPL	2	2
TNFAIP6	7130	broad.mit.edu	37	2	152226549	152226549	+	Missense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:152226549G>T	uc002txk.2	+	c.410G>T	c.(409-411)GGC>GTC	p.G137V		NM_007115	NP_009046	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	137	CUB.				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding				0				BRCA - Breast invasive adenocarcinoma(221;0.131)										0.197917	73.132519	89.458075	38	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152226549	152226549	16816	2	G	T	T	T	546	42	TNFAIP6	2	2
RIF1	55183	broad.mit.edu	37	2	152273319	152273319	+	Splice_Site_SNP	SNP	A	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:152273319A>G	uc002txm.2	+	c.409_splice	c.e6-2	p.V137_splice	RIF1_uc002txl.2_Splice_Site_SNP_p.V137_splice|RIF1_uc010fnv.1_Splice_Site_SNP_p.V101_splice|RIF1_uc002txn.2_Splice_Site_SNP_p.V137_splice|RIF1_uc002txo.2_Splice_Site_SNP_p.V137_splice|RIF1_uc010zby.1_Splice_Site_SNP	NM_018151	NP_060621			RAP1 interacting factor 1						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|lung(2)|kidney(1)	12				BRCA - Breast invasive adenocarcinoma(221;0.0429)						950				0.236364	79.020047	85.990674	26	84	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	152273319	152273319	13834	2	A	G	G	G	195	15	RIF1	5	4
KCNJ3	3760	broad.mit.edu	37	2	155555401	155555401	+	Silent	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:155555401G>T	uc002tyv.1	+	c.114G>T	c.(112-114)GTG>GTT	p.V38V	KCNJ3_uc010zce.1_Silent_p.V38V	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	38	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)									0.142857	16.001219	25.363197	11	66	KEEP	---	---	---	---	capture		Silent	SNP	155555401	155555401	8357	2	G	T	T	T	587	46	KCNJ3	2	2
GCG	2641	broad.mit.edu	37	2	163000563	163000563	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:163000563C>A	uc002ucc.2	-	c.510G>T	c.(508-510)TGG>TGT	p.W170C		NM_002054	NP_002045	P01275	GLUC_HUMAN	glucagon preproprotein	170					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity				0					Exenatide(DB01276)|Phentolamine(DB00692)									0.295455	38.556964	40.204153	13	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	163000563	163000563	6556	2	C	A	A	A	234	18	GCG	2	2
STK39	27347	broad.mit.edu	37	2	169020319	169020319	+	Missense_Mutation	SNP	T	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:169020319T>C	uc002uea.2	-	c.502A>G	c.(502-504)ATA>GTA	p.I168V		NM_013233	NP_037365	Q9UEW8	STK39_HUMAN	serine threonine kinase 39 (STE20/SPS1 homolog,	168	Protein kinase.				protein phosphorylation|response to stress	cytoplasm|nucleus	ATP binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|skin(1)	2										264				0.123596	21.663548	33.993221	11	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169020319	169020319	15825	2	T	C	C	C	676	52	STK39	4	4
LRP2	4036	broad.mit.edu	37	2	170007412	170007412	+	Missense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:170007412G>T	uc002ues.2	-	c.12586C>A	c.(12586-12588)CTA>ATA	p.L4196I		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	4196	Extracellular (Potential).|LDL-receptor class B 35.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	23				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)					2055				0.223301	52.465964	59.720759	23	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170007412	170007412	9329	2	G	T	T	T	464	36	LRP2	2	2
KBTBD10	10324	broad.mit.edu	37	2	170359635	170359635	+	Nonsense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:170359635C>T	uc010zdh.1	+	c.847C>T	c.(847-849)CAA>TAA	p.Q283*	BBS5_uc002uet.2_Nonsense_Mutation_p.Q283*|BBS5_uc010fpw.2_Nonsense_Mutation_p.Q262*	NM_152384	NP_689597	O60662	KBTBA_HUMAN	Bardet-Biedl syndrome 5	344					striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle					0														0.333333	36.333576	37.368014	14	28	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	170359635	170359635	8294	2	C	T	T	T	221	17	KBTBD10	5	2
DLX2	1746	broad.mit.edu	37	2	172966302	172966302	+	Missense_Mutation	SNP	A	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:172966302A>C	uc002uhn.2	-	c.473T>G	c.(472-474)ATC>AGC	p.I158S	DLX2_uc010zdx.1_Missense_Mutation_p.I158S	NM_004405	NP_004396	Q07687	DLX2_HUMAN	distal-less homeobox 2	158	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GBM(188;775 2993 11256 23072)								0.059259	-5.7793	21.634763	8	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	172966302	172966302	4751	2	A	C	C	C	156	12	DLX2	4	4
KIAA1715	80856	broad.mit.edu	37	2	176794913	176794913	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:176794913C>A	uc010zer.1	-	c.1162G>T	c.(1162-1164)GAT>TAT	p.D388Y	KIAA1715_uc002ukc.1_Missense_Mutation_p.D357Y|KIAA1715_uc010fqw.1_Missense_Mutation_p.D423Y|KIAA1715_uc010zes.1_Missense_Mutation_p.D359Y|KIAA1715_uc002ukd.1_Missense_Mutation_p.D234Y|KIAA1715_uc010zet.1_Non-coding_Transcript	NM_030650	NP_085153	Q9C0E8	LNP_HUMAN	Lunapark	357	Cytoplasmic (Potential).					integral to membrane	protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0793)											0.070175	-1.972755	19.742535	8	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176794913	176794913	8564	2	C	A	A	A	403	31	KIAA1715	1	1
TTN	7273	broad.mit.edu	37	2	179453980	179453980	+	Silent	SNP	A	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179453980A>T	uc010zfg.1	-	c.54768T>A	c.(54766-54768)GCT>GCA	p.A18256A	TTN_uc010zfh.1_Silent_p.A11951A|TTN_uc010zfi.1_Silent_p.A11884A|TTN_uc010zfj.1_Silent_p.A11759A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1610										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				0.090476	11.666379	47.18248	19	191	KEEP	---	---	---	---	capture		Silent	SNP	179453980	179453980	17290	2	A	T	T	T	80	7	TTN	3	3
STK17B	9262	broad.mit.edu	37	2	197028050	197028050	+	Missense_Mutation	SNP	G	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:197028050G>C	uc002utk.2	-	c.58C>G	c.(58-60)CAA>GAA	p.Q20E	STK17B_uc010fsh.2_Missense_Mutation_p.Q20E	NM_004226	NP_004217	O94768	ST17B_HUMAN	serine/threonine kinase 17B	20					apoptosis|induction of apoptosis|intracellular protein kinase cascade|protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity			lung(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.141)							94				0.049383	-6.371365	11.090408	4	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197028050	197028050	15811	2	G	C	C	C	585	45	STK17B	3	3
NDUFB3	4709	broad.mit.edu	37	2	201950245	201950245	+	Silent	SNP	T	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:201950245T>C	uc002uwx.3	+	c.204T>C	c.(202-204)TTT>TTC	p.F68F		NM_002491	NP_002482	O43676	NDUB3_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	68	Helical; (Potential).				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0					NADH(DB00157)									0.254237	97.001722	103.463841	30	88	KEEP	---	---	---	---	capture		Silent	SNP	201950245	201950245	10681	2	T	C	C	C	790	61	NDUFB3	4	4
PTH2R	5746	broad.mit.edu	37	2	209309587	209309587	+	Silent	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:209309587G>A	uc010zjb.1	+	c.861G>A	c.(859-861)CTG>CTA	p.L287L	PTH2R_uc002vdb.2_Silent_p.L276L	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	276	Helical; Name=4; (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)	1				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)										0.09854	10.695354	54.927214	27	247	KEEP	---	---	---	---	capture		Silent	SNP	209309587	209309587	13215	2	G	A	A	A	613	48	PTH2R	2	2
CPS1	1373	broad.mit.edu	37	2	211447431	211447431	+	Missense_Mutation	SNP	A	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:211447431A>G	uc010fur.2	+	c.637A>G	c.(637-639)AAG>GAG	p.K213E	CPS1_uc002vee.3_Missense_Mutation_p.K207E	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform a	207	Anthranilate phosphoribosyltransferase homolog.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)	12				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)										0.160714	40.680057	52.949146	18	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	211447431	211447431	3961	2	A	G	G	G	65	5	CPS1	4	4
FN1	2335	broad.mit.edu	37	2	216284104	216284104	+	Missense_Mutation	SNP	T	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:216284104T>A	uc002vfa.2	-	c.1680A>T	c.(1678-1680)CAA>CAT	p.Q560H	FN1_uc002vfb.2_Missense_Mutation_p.Q560H|FN1_uc002vfc.2_Missense_Mutation_p.Q560H|FN1_uc002vfd.2_Missense_Mutation_p.Q560H|FN1_uc002vfe.2_Missense_Mutation_p.Q560H|FN1_uc002vff.2_Missense_Mutation_p.Q560H|FN1_uc002vfg.2_Missense_Mutation_p.Q560H|FN1_uc002vfh.2_Missense_Mutation_p.Q560H|FN1_uc002vfi.2_Missense_Mutation_p.Q560H|FN1_uc002vfj.2_Missense_Mutation_p.Q560H|FN1_uc002vfl.2_Missense_Mutation_p.Q560H	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	560	Fibronectin type-I 9.|Collagen-binding.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)					1374				0.070588	-3.221091	12.950023	6	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216284104	216284104	6204	2	T	A	A	A	673	52	FN1	3	3
IRS1	3667	broad.mit.edu	37	2	227659915	227659915	+	Missense_Mutation	SNP	T	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:227659915T>C	uc002voh.3	-	c.3540A>G	c.(3538-3540)ATA>ATG	p.I1180M		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	1180					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			central_nervous_system(4)|lung(3)|ovary(1)|pancreas(1)	9		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)						143				0.105263	14.887271	29.591103	10	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	227659915	227659915	8144	2	T	C	C	C	680	53	IRS1	4	4
DNER	92737	broad.mit.edu	37	2	230453149	230453149	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:230453149C>A	uc002vpv.2	-	c.641G>T	c.(640-642)CGC>CTC	p.R214L	DNER_uc010zly.1_5'Flank	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	delta-notch-like EGF repeat-containing	214	Extracellular (Potential).				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			ovary(1)	1		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)										0.055556	-8.39984	10.305764	5	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	230453149	230453149	4850	2	C	A	A	A	351	27	DNER	1	1
UBXN2A	165324	broad.mit.edu	37	2	24222558	24222558	+	Missense_Mutation	SNP	G	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:24222558G>C	uc010exy.2	+	c.601G>C	c.(601-603)GAC>CAC	p.D201H	UBXN2A_uc002rem.2_Non-coding_Transcript|UBXN2A_uc002ren.2_Missense_Mutation_p.D201H|UBXN2A_uc010ykj.1_Missense_Mutation_p.D148H	NM_181713	NP_859064	P68543	UBX2A_HUMAN	UBX domain containing 4	201	UBX.										0														0.122642	24.595902	39.372074	13	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24222558	24222558	17472	2	G	C	C	C	429	33	UBXN2A	3	3
GPN1	11321	broad.mit.edu	37	2	27855515	27855515	+	Missense_Mutation	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27855515G>A	uc010ymc.1	+	c.370G>A	c.(370-372)GAG>AAG	p.E124K	ZNF512_uc010yly.1_Non-coding_Transcript|GPN1_uc010ezf.2_Missense_Mutation_p.E98K|GPN1_uc010yma.1_Missense_Mutation_p.E31K|GPN1_uc010ymb.1_Missense_Mutation_p.E15K|GPN1_uc010ymd.1_Missense_Mutation_p.E5K|GPN1_uc010yme.1_Missense_Mutation_p.E124K|GPN1_uc010ezg.1_Missense_Mutation_p.E5K	NM_007266	NP_009197	Q9HCN4	GPN1_HUMAN	GPN-loop GTPase 1 isoform a	110						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding				0														0.069652	-11.121925	27.340253	14	187	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27855515	27855515	6891	2	G	A	A	A	585	45	GPN1	2	2
C2orf71	388939	broad.mit.edu	37	2	29295088	29295088	+	Silent	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:29295088C>T	uc002rmt.1	-	c.2040G>A	c.(2038-2040)CAG>CAA	p.Q680Q		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	hypothetical protein LOC388939	680					response to stimulus|visual perception	photoreceptor outer segment					0														0.369231	221.732627	224.669598	72	123	KEEP	---	---	---	---	capture		Silent	SNP	29295088	29295088	2279	2	C	T	T	T	311	24	C2orf71	2	2
MSH6	2956	broad.mit.edu	37	2	48026387	48026387	+	Missense_Mutation	SNP	A	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:48026387A>G	uc002rwd.3	+	c.1265A>G	c.(1264-1266)GAT>GGT	p.D422G	MSH6_uc002rwc.2_Missense_Mutation_p.D422G|MSH6_uc010fbj.2_Missense_Mutation_p.D120G|MSH6_uc010yoi.1_Missense_Mutation_p.D292G|MSH6_uc010yoj.1_Missense_Mutation_p.D120G	NM_000179	NP_000170	P52701	MSH6_HUMAN	mutS homolog 6	422					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding			large_intestine(53)|endometrium(28)|central_nervous_system(27)|stomach(21)|haematopoietic_and_lymphoid_tissue(9)|skin(6)|urinary_tract(5)|lung(5)|ovary(3)|breast(2)|thyroid(1)	160		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)							517				0.0625	-3.79753	21.723741	8	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48026387	48026387	10267	2	A	G	G	G	156	12	MSH6	4	4
LHCGR	3973	broad.mit.edu	37	2	48915895	48915895	+	Silent	SNP	T	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:48915895T>C	uc002rwu.3	-	c.1041A>G	c.(1039-1041)CCA>CCG	p.P347P	GTF2A1L_uc002rwt.2_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	347	Extracellular (Potential).				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			ovary(3)|breast(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)									0.136986	35.902637	54.519994	20	126	KEEP	---	---	---	---	capture		Silent	SNP	48915895	48915895	9088	2	T	C	C	C	704	55	LHCGR	4	4
MTHFD2	10797	broad.mit.edu	37	2	74441241	74441241	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74441241C>A	uc002skk.2	+	c.925C>A	c.(925-927)CCT>ACT	p.P309T	SLC4A5_uc002skl.2_Intron|MTHFD2_uc002skj.2_Missense_Mutation_p.P207T|MTHFD2_uc010yro.1_Missense_Mutation_p.P207T|MTHFD2_uc010ffb.2_Missense_Mutation_p.P226T|MTHFD2_uc010yrp.1_Missense_Mutation_p.P145T	NM_006636	NP_006627	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase 2	309					folic acid-containing compound biosynthetic process|one-carbon metabolic process|oxidation-reduction process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding				0					NADH(DB00157)|Tetrahydrofolic acid(DB00116)									0.059574	-21.938841	25.764144	14	221	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74441241	74441241	10322	2	C	A	A	A	390	30	MTHFD2	2	2
INO80B	83444	broad.mit.edu	37	2	74682700	74682700	+	Missense_Mutation	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74682700G>A	uc010yrs.1	+	c.280G>A	c.(280-282)GGG>AGG	p.G94R	INO80B_uc002slf.1_Missense_Mutation_p.G63R|INO80B_uc002slg.2_Missense_Mutation_p.G76R|INO80B_uc010yrr.1_Missense_Mutation_p.G63R|WBP1_uc002slh.1_Non-coding_Transcript|INO80B_uc002sli.1_Non-coding_Transcript|WBP1_uc002slj.1_5'Flank|WBP1_uc002slk.1_5'Flank|WBP1_uc002sll.1_5'Flank	NM_031288	NP_112578	Q9C086	IN80B_HUMAN	high mobility group AT-hook 1-like 4	76						nucleolus	metal ion binding|protein binding			pancreas(1)	1														0.072581	-4.027921	19.289218	9	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74682700	74682700	8048	2	G	A	A	A	611	47	INO80B	2	2
REG1B	5968	broad.mit.edu	37	2	79313951	79313951	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:79313951C>A	uc002sny.2	-	c.170G>T	c.(169-171)TGG>TTG	p.W57L	REG1B_uc010ffv.1_Missense_Mutation_p.W57L|REG1B_uc010ffw.2_Missense_Mutation_p.W57L	NM_006507	NP_006498	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta precursor	57	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)	1														0.081897	-2.267128	39.034983	19	213	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79313951	79313951	13680	2	C	A	A	A	273	21	REG1B	2	2
IMMT	10989	broad.mit.edu	37	2	86378641	86378641	+	Missense_Mutation	SNP	C	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:86378641C>G	uc002sqz.3	-	c.1180G>C	c.(1180-1182)GAC>CAC	p.D394H	IMMT_uc002sqy.3_Missense_Mutation_p.D135H|IMMT_uc002srb.3_Missense_Mutation_p.D383H|IMMT_uc002sra.3_Missense_Mutation_p.D393H|IMMT_uc010ytd.1_Missense_Mutation_p.D382H|IMMT_uc010yte.1_Missense_Mutation_p.D347H|IMMT_uc002src.1_Missense_Mutation_p.D130H	NM_006839	NP_006830	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial isoform 1	394	Mitochondrial intermembrane (Potential).					integral to mitochondrial inner membrane	protein binding			skin(1)	1														0.061538	-2.457609	10.583776	4	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86378641	86378641	8019	2	C	G	G	G	377	29	IMMT	3	3
KIDINS220	57498	broad.mit.edu	37	2	8888086	8888086	+	Silent	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:8888086G>T	uc002qzc.2	-	c.3459C>A	c.(3457-3459)GGC>GGA	p.G1153G	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Intron|KIDINS220_uc010yiw.1_Intron|KIDINS220_uc002qzb.2_Silent_p.G26G|KIDINS220_uc002qze.2_3'UTR	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	1153	Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)													0.230088	63.681774	71.23879	26	87	KEEP	---	---	---	---	capture		Silent	SNP	8888086	8888086	8582	2	G	T	T	T	483	38	KIDINS220	1	1
CBLB	868	broad.mit.edu	37	3	105400605	105400605	+	Silent	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:105400605C>T	uc003dwc.2	-	c.2259G>A	c.(2257-2259)AAG>AAA	p.K753K	CBLB_uc003dwa.2_Silent_p.K12K|CBLB_uc011bhi.1_Silent_p.K775K|CBLB_uc003dwd.1_Silent_p.K753K|CBLB_uc003dwe.1_Silent_p.K753K	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Cas-Br-M (murine) ecotropic retroviral	753	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			ovary(3)|lung(2)|skin(1)	6						GBM(93;588 1337 9788 29341 43499)								0.120482	14.186103	25.913159	10	73	KEEP	---	---	---	---	capture		Silent	SNP	105400605	105400605	2820	3	C	T	T	T	415	32	CBLB	2	2
ARHGAP31	57514	broad.mit.edu	37	3	119013825	119013825	+	Missense_Mutation	SNP	A	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:119013825A>G	uc003ecj.3	+	c.74A>G	c.(73-75)GAG>GGG	p.E25G		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	25	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						Pancreas(7;176 297 5394 51128 51241)								0.144578	26.467336	36.537258	12	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119013825	119013825	892	3	A	G	G	G	143	11	ARHGAP31	4	4
KIAA1257	57501	broad.mit.edu	37	3	128696922	128696922	+	Silent	SNP	T	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:128696922T>C	uc003elj.3	-	c.774A>G	c.(772-774)CAA>CAG	p.Q258Q	KIAA1257_uc003elg.1_Silent_p.Q258Q|KIAA1257_uc003eli.3_Silent_p.Q146Q	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	hypothetical protein LOC57501	258											0														0.09	8.89859	25.857717	9	91	KEEP	---	---	---	---	capture		Silent	SNP	128696922	128696922	8527	3	T	C	C	C	725	56	KIAA1257	4	4
ACPP	55	broad.mit.edu	37	3	132056351	132056351	+	Missense_Mutation	SNP	G	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:132056351G>C	uc003eop.3	+	c.508G>C	c.(508-510)GAG>CAG	p.E170Q	ACPP_uc010htp.2_Missense_Mutation_p.E170Q|ACPP_uc003eon.3_Intron	NM_001134194	NP_001127666	P15309	PPAP_HUMAN	acid phosphatase, prostate long isoform	170						extracellular region|lysosomal membrane	acid phosphatase activity			ovary(1)	1														0.166667	43.036375	53.150141	16	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132056351	132056351	168	3	G	C	C	C	585	45	ACPP	3	3
IGSF10	285313	broad.mit.edu	37	3	151166370	151166370	+	Missense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:151166370G>T	uc011bod.1	-	c.1399C>A	c.(1399-1401)CCA>ACA	p.P467T		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	467	Ig-like C2-type 1.				cell differentiation|multicellular organismal development|ossification	extracellular region				ovary(4)|central_nervous_system(1)	5			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)											0.142857	51.10728	79.523142	33	198	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151166370	151166370	7898	3	G	T	T	T	546	42	IGSF10	2	2
SLITRK3	22865	broad.mit.edu	37	3	164906248	164906248	+	Missense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164906248G>T	uc003fej.3	-	c.2371C>A	c.(2371-2373)CTC>ATC	p.L791I	SLITRK3_uc003fek.2_Missense_Mutation_p.L791I	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	791	Cytoplasmic (Potential).					integral to membrane				ovary(6)|pancreas(1)	7														0.216561	68.952768	80.599549	34	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164906248	164906248	15242	3	G	T	T	T	429	33	SLITRK3	2	2
FNDC3B	64778	broad.mit.edu	37	3	172096132	172096132	+	Silent	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:172096132C>A	uc003fhy.2	+	c.3081C>A	c.(3079-3081)TCC>TCA	p.S1027S	FNDC3B_uc003fhz.3_Silent_p.S1027S	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1027	Fibronectin type-III 8.					endoplasmic reticulum|integral to membrane				ovary(1)|breast(1)	2	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)										0.068493	-4.287118	9.775566	5	68	KEEP	---	---	---	---	capture		Silent	SNP	172096132	172096132	6212	3	C	A	A	A	301	24	FNDC3B	2	2
YEATS2	55689	broad.mit.edu	37	3	183493769	183493769	+	Missense_Mutation	SNP	G	C	C	rs79893976		TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183493769G>C	uc003fly.2	+	c.2435G>C	c.(2434-2436)GGA>GCA	p.G812A	YEATS2_uc003flz.2_5'UTR	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	812	Gly-rich.				histone H3 acetylation|negative regulation of gene-specific transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	specific transcriptional repressor activity|TBP-class protein binding			ovary(2)|large_intestine(1)	3	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)											0.166667	48.836541	61.466324	20	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183493769	183493769	18055	3	G	C	C	C	533	41	YEATS2	3	3
CNTN4	152330	broad.mit.edu	37	3	3084066	3084066	+	Missense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:3084066C>T	uc003bpc.2	+	c.2471C>T	c.(2470-2472)TCC>TTC	p.S824F	CNTN4_uc003bpb.1_Missense_Mutation_p.S495F|CNTN4_uc003bpe.2_Missense_Mutation_p.S496F|CNTN4_uc003bpf.2_Missense_Mutation_p.S495F|CNTN4_uc003bpg.2_Missense_Mutation_p.S80F	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	824	Fibronectin type-III 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)										0.214286	25.971811	30.19241	12	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3084066	3084066	3781	3	C	T	T	T	390	30	CNTN4	2	2
TGM4	7047	broad.mit.edu	37	3	44951740	44951740	+	Missense_Mutation	SNP	A	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:44951740A>T	uc003coc.3	+	c.1486A>T	c.(1486-1488)AGG>TGG	p.R496W		NM_003241	NP_003232	P49221	TGM4_HUMAN	transglutaminase 4 (prostate)	496					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)									0.098684	7.809161	32.301719	15	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44951740	44951740	16360	3	A	T	T	T	36	3	TGM4	3	3
STAB1	23166	broad.mit.edu	37	3	52546905	52546905	+	Missense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52546905C>T	uc003dej.2	+	c.3089C>T	c.(3088-3090)GCA>GTA	p.A1030V		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1030	FAS1 3.|Extracellular (Potential).				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|pancreas(1)|breast(1)|central_nervous_system(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)										0.222222	23.168652	27.008118	12	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52546905	52546905	15755	3	C	T	T	T	325	25	STAB1	2	2
ITIH1	3697	broad.mit.edu	37	3	52816082	52816082	+	Splice_Site_SNP	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52816082G>T	uc003dfs.2	+	c.813_splice	c.e7+1	p.L271_splice	ITIH1_uc010hmn.1_Splice_Site_SNP|ITIH1_uc003dft.2_5'Flank|ITIH1_uc010hmo.1_5'Flank	NM_002215	NP_002206			inter-alpha (globulin) inhibitor H1						hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)										0.23301	56.443553	63.169558	24	79	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	52816082	52816082	8207	3	G	T	T	T	572	44	ITIH1	5	2
LRTM1	57408	broad.mit.edu	37	3	54959111	54959111	+	Missense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:54959111G>T	uc003dhl.2	-	c.139C>A	c.(139-141)CAT>AAT	p.H47N	CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	47	Extracellular (Potential).|LRRNT.					integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)										0.142857	10.69042	16.714938	7	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54959111	54959111	9420	3	G	T	T	T	611	47	LRTM1	2	2
ATXN7	6314	broad.mit.edu	37	3	63981400	63981400	+	Silent	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:63981400G>A	uc010hnv.2	+	c.1902G>A	c.(1900-1902)GCG>GCA	p.A634A	ATXN7_uc003dlv.2_Silent_p.A634A|ATXN7_uc003dlw.3_Silent_p.A634A|ATXN7_uc011bfn.1_Silent_p.A489A	NM_001128149	NP_001121621	O15265	ATX7_HUMAN	ataxin 7 isoform b	634					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding				0		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)										0.351485	194.589771	198.507988	71	131	KEEP	---	---	---	---	capture		Silent	SNP	63981400	63981400	1235	3	G	A	A	A	470	37	ATXN7	1	1
UBA3	9039	broad.mit.edu	37	3	69124610	69124610	+	Missense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:69124610C>T	uc003dno.2	-	c.235G>A	c.(235-237)GGC>AGC	p.G79S	UBA3_uc003dnq.2_Missense_Mutation_p.G65S|UBA3_uc011bfy.1_5'UTR|UBA3_uc011bfz.1_Intron	NM_003968	NP_003959	Q8TBC4	UBA3_HUMAN	ubiquitin-activating enzyme 3 isoform 1	79					protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)										0.25	20.382976	22.202299	8	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69124610	69124610	17386	3	C	T	T	T	299	23	UBA3	1	1
ROBO2	6092	broad.mit.edu	37	3	77666811	77666811	+	Missense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:77666811G>T	uc003dpz.2	+	c.3453G>T	c.(3451-3453)CAG>CAT	p.Q1151H	ROBO2_uc003dpy.3_Missense_Mutation_p.Q1147H|ROBO2_uc011bgj.1_Non-coding_Transcript|ROBO2_uc011bgk.1_Missense_Mutation_p.Q1151H|ROBO2_uc003dqa.2_Missense_Mutation_p.Q274H	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	1147	Cytoplasmic (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|ovary(1)|large_intestine(1)|liver(1)	8				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)						1049				0.162791	23.49429	32.794862	14	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77666811	77666811	13993	3	G	T	T	T	438	34	ROBO2	2	2
BRPF1	7862	broad.mit.edu	37	3	9785450	9785450	+	Missense_Mutation	SNP	G	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:9785450G>C	uc003bsf.2	+	c.2500G>C	c.(2500-2502)GAG>CAG	p.E834Q	BRPF1_uc003bse.2_Missense_Mutation_p.E828Q|BRPF1_uc003bsg.2_Missense_Mutation_p.E827Q|BRPF1_uc011ati.1_Missense_Mutation_p.E828Q	NM_001003694	NP_001003694	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	828	Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|transcription activator activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)													0.186047	20.585882	24.548672	8	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9785450	9785450	1551	3	G	C	C	C	429	33	BRPF1	3	3
PCDH18	54510	broad.mit.edu	37	4	138452918	138452918	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:138452918C>A	uc003ihe.3	-	c.325G>T	c.(325-327)GAT>TAT	p.D109Y	PCDH18_uc003ihf.3_Missense_Mutation_p.D102Y|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Intron|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	109	Extracellular (Potential).|Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)	3	all_hematologic(180;0.24)													0.114407	20.090336	54.850823	27	209	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138452918	138452918	11933	4	C	A	A	A	377	29	PCDH18	2	2
USP38	84640	broad.mit.edu	37	4	144116948	144116948	+	Missense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:144116948G>T	uc003ijb.2	+	c.898G>T	c.(898-900)GTC>TTC	p.V300F	USP38_uc003ija.3_Missense_Mutation_p.V300F|USP38_uc003ijc.2_Non-coding_Transcript	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	300					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)|pancreas(1)	3	all_hematologic(180;0.158)													0.181818	27.501361	34.829484	14	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144116948	144116948	17633	4	G	T	T	T	624	48	USP38	2	2
NAF1	92345	broad.mit.edu	37	4	164085484	164085484	+	Missense_Mutation	SNP	G	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:164085484G>C	uc003iqj.2	-	c.425C>G	c.(424-426)TCT>TGT	p.S142C	NAF1_uc010iqw.1_Missense_Mutation_p.S142C|NAF1_uc003iqk.2_Non-coding_Transcript	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 homolog isoform a	142	Ser-rich.				rRNA processing	box H/ACA snoRNP complex|cytoplasm	protein binding|pseudouridine synthase activity|snoRNA binding			ovary(2)	2	all_hematologic(180;0.166)	Prostate(90;0.109)												0.4	21.747185	21.878362	6	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164085484	164085484	10536	4	G	C	C	C	429	33	NAF1	3	3
DDX60L	91351	broad.mit.edu	37	4	169336592	169336592	+	Missense_Mutation	SNP	A	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:169336592A>T	uc003irq.3	-	c.2946T>A	c.(2944-2946)CAT>CAA	p.H982Q	DDX60L_uc003irr.1_Missense_Mutation_p.H982Q|DDX60L_uc003irs.1_Missense_Mutation_p.H677Q	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	982							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)										0.176471	6.014536	7.691612	3	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169336592	169336592	4550	4	A	T	T	T	50	4	DDX60L	3	3
CLCN3	1182	broad.mit.edu	37	4	170613432	170613432	+	Silent	SNP	C	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:170613432C>G	uc003ish.2	+	c.897C>G	c.(895-897)CTC>CTG	p.L299L	CLCN3_uc003isi.2_Silent_p.L299L|CLCN3_uc011cjz.1_Silent_p.L282L|CLCN3_uc011cka.1_Silent_p.L299L|CLCN3_uc003isj.1_Silent_p.L272L	NM_173872	NP_776297	P51790	CLCN3_HUMAN	chloride channel 3 isoform e	299	Helical; (By similarity).				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(2)|ovary(1)	3		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)										0.092391	15.923931	46.700877	17	167	KEEP	---	---	---	---	capture		Silent	SNP	170613432	170613432	3600	4	C	G	G	G	405	32	CLCN3	3	3
ADAM29	11086	broad.mit.edu	37	4	175897288	175897288	+	Silent	SNP	C	G	G	rs114696296	by1000genomes	TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:175897288C>G	uc003iuc.2	+	c.612C>G	c.(610-612)GTC>GTG	p.V204V	ADAM29_uc003iud.2_Silent_p.V204V|ADAM29_uc010irr.2_Silent_p.V204V|ADAM29_uc011cki.1_Silent_p.V204V	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	204	Peptidase M12B.|Extracellular (Potential).				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			ovary(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(1)	10		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		Ovarian(140;1727 1835 21805 25838 41440)				106				0.07	-1.655817	17.433375	7	93	KEEP	---	---	---	---	capture		Silent	SNP	175897288	175897288	248	4	C	G	G	G	392	31	ADAM29	3	3
TRIML1	339976	broad.mit.edu	37	4	189065212	189065212	+	Missense_Mutation	SNP	T	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:189065212T>C	uc003izm.1	+	c.781T>C	c.(781-783)TGT>CGT	p.C261R	TRIML1_uc003izn.1_5'UTR	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	261					multicellular organismal development		ligase activity|zinc ion binding			ovary(1)|breast(1)|pancreas(1)	3		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		Melanoma(31;213 1036 16579 23968 32372)								0.181818	13.631779	16.77053	6	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189065212	189065212	17100	4	T	C	C	C	767	59	TRIML1	4	4
SLIT2	9353	broad.mit.edu	37	4	20570537	20570537	+	Missense_Mutation	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:20570537G>A	uc003gpr.1	+	c.2998G>A	c.(2998-3000)GAT>AAT	p.D1000N	SLIT2_uc003gps.1_Missense_Mutation_p.D992N	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1000	EGF-like 3; calcium-binding (Potential).				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|initiation of Roundabout signal transduction|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|ovary(3)	7														0.09375	2.096401	12.720544	6	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20570537	20570537	15238	4	G	A	A	A	585	45	SLIT2	2	2
SEL1L3	23231	broad.mit.edu	37	4	25831720	25831720	+	Missense_Mutation	SNP	C	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:25831720C>G	uc003gru.3	-	c.1157G>C	c.(1156-1158)AGC>ACC	p.S386T		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3	386						integral to membrane	binding				0														0.137931	6.978611	10.656525	4	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25831720	25831720	14498	4	C	G	G	G	312	24	SEL1L3	3	3
TLR10	81793	broad.mit.edu	37	4	38776144	38776144	+	Silent	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:38776144G>T	uc003gti.2	-	c.1068C>A	c.(1066-1068)GCC>GCA	p.A356A	TLR10_uc003gtj.2_Silent_p.A356A|TLR10_uc003gtk.2_Silent_p.A356A	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN	toll-like receptor 10 precursor	356	LRR 9.|Extracellular (Potential).				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity				0														0.099174	4.98485	24.498394	12	109	KEEP	---	---	---	---	capture		Silent	SNP	38776144	38776144	16480	4	G	T	T	T	600	47	TLR10	2	2
FRYL	285527	broad.mit.edu	37	4	48566058	48566058	+	Missense_Mutation	SNP	T	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:48566058T>A	uc003gyh.1	-	c.3503A>T	c.(3502-3504)AAC>ATC	p.N1168I	FRYL_uc003gyk.2_Missense_Mutation_p.N1168I|FRYL_uc003gyi.1_Missense_Mutation_p.N57I	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	1168					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1														0.12844	14.280847	28.951424	14	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48566058	48566058	6314	4	T	A	A	A	780	60	FRYL	3	3
SCFD2	152579	broad.mit.edu	37	4	53751949	53751949	+	Missense_Mutation	SNP	T	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:53751949T>C	uc003gzu.2	-	c.1927A>G	c.(1927-1929)AAA>GAA	p.K643E	SCFD2_uc010igm.2_Missense_Mutation_p.K598E	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	643					protein transport|vesicle docking involved in exocytosis					ovary(2)|pancreas(1)	3			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)											0.066667	-5.9571	14.480965	7	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53751949	53751949	14371	4	T	C	C	C	819	63	SCFD2	4	4
LPHN3	23284	broad.mit.edu	37	4	62849254	62849254	+	Missense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:62849254G>T	uc010ihh.2	+	c.2965G>T	c.(2965-2967)GGG>TGG	p.G989W	LPHN3_uc003hcq.3_Missense_Mutation_p.G989W|LPHN3_uc003hct.2_Missense_Mutation_p.G382W	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	976	Helical; Name=4; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.121495	14.392119	29.420701	13	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62849254	62849254	9290	4	G	T	T	T	611	47	LPHN3	2	2
SDAD1	55153	broad.mit.edu	37	4	76894544	76894544	+	Missense_Mutation	SNP	T	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:76894544T>C	uc003hje.3	-	c.637A>G	c.(637-639)ATA>GTA	p.I213V	SDAD1_uc003hjf.3_Missense_Mutation_p.I116V|SDAD1_uc011cbr.1_Missense_Mutation_p.I176V	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	213					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			ovary(1)	1			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)											0.087719	8.393005	27.965036	10	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76894544	76894544	14435	4	T	C	C	C	650	50	SDAD1	4	4
FRAS1	80144	broad.mit.edu	37	4	79360062	79360062	+	Silent	SNP	A	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:79360062A>T	uc003hlb.2	+	c.5373A>T	c.(5371-5373)TCA>TCT	p.S1791S	FRAS1_uc003hkw.2_Silent_p.S1791S|FRAS1_uc010ijj.1_Silent_p.S211S	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1790	CSPG 6.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5														0.159091	42.30623	56.910104	21	111	KEEP	---	---	---	---	capture		Silent	SNP	79360062	79360062	6288	4	A	T	T	T	80	7	FRAS1	3	3
FRAS1	80144	broad.mit.edu	37	4	79455668	79455668	+	Missense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:79455668C>T	uc003hlb.2	+	c.10991C>T	c.(10990-10992)ACT>ATT	p.T3664I		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3659	Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5														0.094891	9.263605	31.843116	13	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79455668	79455668	6288	4	C	T	T	T	260	20	FRAS1	2	2
DNAH5	1767	broad.mit.edu	37	5	13894780	13894780	+	Nonsense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:13894780C>A	uc003jfd.2	-	c.2410G>T	c.(2410-2412)GAA>TAA	p.E804*		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	804	Potential.|Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|breast(1)|central_nervous_system(1)|pancreas(1)	17	Lung NSC(4;0.00476)													0.18	29.084507	38.730167	18	82	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	13894780	13894780	4787	5	C	A	A	A	416	32	DNAH5	5	2
PCDHB15	56121	broad.mit.edu	37	5	140627391	140627391	+	Missense_Mutation	SNP	T	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140627391T>C	uc003lje.2	+	c.2245T>C	c.(2245-2247)TAC>CAC	p.Y749H		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	749	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.036866	-30.076336	20.345375	8	209	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140627391	140627391	11960	5	T	C	C	C	689	53	PCDHB15	4	4
PCDHGA12	26025	broad.mit.edu	37	5	140812327	140812327	+	Missense_Mutation	SNP	C	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140812327C>G	uc003lkt.1	+	c.2001C>G	c.(1999-2001)AGC>AGG	p.S667R	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.S667R	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	667	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.116505	15.148109	30.039193	12	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140812327	140812327	11973	5	C	G	G	G	324	25	PCDHGA12	3	3
FBXL7	23194	broad.mit.edu	37	5	15936565	15936565	+	Missense_Mutation	SNP	C	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:15936565C>G	uc003jfn.1	+	c.746C>G	c.(745-747)TCC>TGC	p.S249C		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	249					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3														0.114286	5.973035	11.107385	4	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15936565	15936565	5961	5	C	G	G	G	390	30	FBXL7	3	3
RNF130	55819	broad.mit.edu	37	5	179393914	179393914	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:179393914C>A	uc003mll.1	-	c.1042G>T	c.(1042-1044)GGC>TGC	p.G348C	RNF130_uc003mlm.1_Missense_Mutation_p.G348C	NM_018434	NP_060904	Q86XS8	GOLI_HUMAN	ring finger protein 130 precursor	348	Cytoplasmic (Potential).				apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			lung(2)|ovary(1)	3	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GBM(24;432 554 38471 39699 51728)				168				0.178862	40.168407	52.115341	22	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179393914	179393914	13915	5	C	A	A	A	299	23	RNF130	1	1
BTNL8	79908	broad.mit.edu	37	5	180377285	180377285	+	Missense_Mutation	SNP	G	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:180377285G>C	uc003mmp.2	+	c.1244G>C	c.(1243-1245)TGT>TCT	p.C415S	BTNL8_uc003mmq.2_3'UTR|BTNL8_uc011dhg.1_Missense_Mutation_p.C290S|BTNL8_uc010jll.2_3'UTR|BTNL8_uc010jlm.2_Missense_Mutation_p.C299S|BTNL8_uc011dhh.1_Missense_Mutation_p.C231S	NM_001040462	NP_001035552	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8 isoform 2 precursor	415	B30.2/SPRY.|Cytoplasmic (Potential).					integral to membrane					0	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.333333	97.373524	99.439214	28	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	180377285	180377285	1601	5	G	C	C	C	624	48	BTNL8	3	3
PRDM9	56979	broad.mit.edu	37	5	23518003	23518003	+	Missense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:23518003G>T	uc003jgo.2	+	c.315G>T	c.(313-315)TGG>TGT	p.W105C		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	105					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6														0.058824	-19.783042	21.832085	12	192	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23518003	23518003	12906	5	G	T	T	T	533	41	PRDM9	2	2
TTC23L	153657	broad.mit.edu	37	5	34867061	34867062	+	Missense_Mutation	DNP	GT	TA	TA			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:34867061_34867062GT>TA	uc003jiu.2	+	c.727_728GT>TA	c.(727-729)GTT>TAT	p.V243Y	TTC23L_uc003jiv.2_Missense_Mutation_p.V50Y|TTC23L_uc010iut.1_Missense_Mutation_p.V50Y	NM_144725	NP_653326	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	243							binding				0														0.35	18.023807	18.418571	7	13	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	34867061	34867062	17245	5	GT	TA	TA	TA	624	48	TTC23L	2	2
TTC33	23548	broad.mit.edu	37	5	40730417	40730417	+	Missense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:40730417C>T	uc003jma.2	-	c.250G>A	c.(250-252)GAA>AAA	p.E84K	TTC33_uc011cpm.1_Intron|TTC33_uc010ivg.2_Intron	NM_012382	NP_036514	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	84	TPR 1.						binding			ovary(1)	1														0.206061	70.947	84.175126	34	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40730417	40730417	17257	5	C	T	T	T	377	29	TTC33	2	2
HCN1	348980	broad.mit.edu	37	5	45645554	45645554	+	Silent	SNP	A	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:45645554A>G	uc003jok.2	-	c.582T>C	c.(580-582)TTT>TTC	p.F194F		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	194	Helical; Name=Segment S2; (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1														0.132353	19.332759	28.253853	9	59	KEEP	---	---	---	---	capture		Silent	SNP	45645554	45645554	7278	5	A	G	G	G	167	13	HCN1	4	4
ANKRD55	79722	broad.mit.edu	37	5	55412547	55412547	+	Missense_Mutation	SNP	A	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:55412547A>C	uc003jqu.2	-	c.860T>G	c.(859-861)TTG>TGG	p.L287W	ANKRD55_uc003jqt.2_5'UTR	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55 isoform 1	286	ANK 8.										0		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)												0.164706	34.902843	43.967799	14	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55412547	55412547	689	5	A	C	C	C	65	5	ANKRD55	4	4
NAIP	4671	broad.mit.edu	37	5	70308489	70308489	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:70308489C>A	uc003kar.1	-	c.254G>T	c.(253-255)GGG>GTG	p.G85V	NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Missense_Mutation_p.G85V|NAIP_uc003kas.1_Intron	NM_004536	NP_004527	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein isoform	85	BIR 1.				anti-apoptosis|apoptosis|negative regulation of caspase activity|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)										0.116667	13.172497	30.517863	14	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70308489	70308489	10543	5	C	A	A	A	286	22	NAIP	2	2
BDP1	55814	broad.mit.edu	37	5	70818153	70818153	+	Missense_Mutation	SNP	A	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:70818153A>G	uc003kbp.1	+	c.5029A>G	c.(5029-5031)ATG>GTG	p.M1677V	BDP1_uc003kbo.2_Missense_Mutation_p.M1677V|BDP1_uc003kbq.1_5'Flank	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	1677					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding				0		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)										0.026316	-36.195275	10.965455	5	185	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70818153	70818153	1417	5	A	G	G	G	52	4	BDP1	4	4
TFAP2A	7020	broad.mit.edu	37	6	10410284	10410284	+	Silent	SNP	C	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:10410284C>G	uc003myr.2	-	c.330G>C	c.(328-330)ACG>ACC	p.T110T	TFAP2A_uc003myq.2_Silent_p.T104T|TFAP2A_uc003mys.2_Non-coding_Transcript|TFAP2A_uc011dih.1_Silent_p.T110T|TFAP2A_uc003myt.2_Silent_p.T106T|TFAP2A_uc003myu.1_Silent_p.T110T|TFAP2A_uc003myv.1_Silent_p.T96T|TFAP2A_uc011dii.1_Silent_p.T106T	NM_003220	NP_003211	P05549	AP2A_HUMAN	transcription factor AP-2 alpha isoform a	110	Gln/Pro-rich (transactivation domain).				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)												0.107143	4.948586	13.494868	6	50	KEEP	---	---	---	---	capture		Silent	SNP	10410284	10410284	16315	6	C	G	G	G	340	27	TFAP2A	3	3
FOXO3	2309	broad.mit.edu	37	6	108985209	108985209	+	Silent	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:108985209G>A	uc003psk.2	+	c.1173G>A	c.(1171-1173)CTG>CTA	p.L391L	FOXO3_uc003psn.2_Intron|FOXO3_uc003psm.2_Silent_p.L391L|FOXO3_uc011ean.1_Silent_p.L171L|FOXO3_uc010kdj.1_Silent_p.L171L	NM_201559	NP_963853	O43524	FOXO3_HUMAN	forkhead box O3A	391					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of gene-specific transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(4)|lung(2)	6		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)						42				0.195652	14.839283	18.82386	9	37	KEEP	---	---	---	---	capture		Silent	SNP	108985209	108985209	6270	6	G	A	A	A	600	47	FOXO3	2	2
REV3L	5980	broad.mit.edu	37	6	111697523	111697523	+	Missense_Mutation	SNP	T	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:111697523T>C	uc003puy.3	-	c.2035A>G	c.(2035-2037)ACA>GCA	p.T679A	REV3L_uc003pux.3_Missense_Mutation_p.T601A|REV3L_uc003puz.3_Missense_Mutation_p.T601A	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	679					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(1)|skin(1)	4		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)										0.101695	8.210433	17.539897	6	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111697523	111697523	13710	6	T	C	C	C	741	57	REV3L	4	4
REV3L	5980	broad.mit.edu	37	6	111737651	111737651	+	Missense_Mutation	SNP	T	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:111737651T>C	uc003puy.3	-	c.164A>G	c.(163-165)CAT>CGT	p.H55R	REV3L_uc003pux.3_5'UTR|REV3L_uc003puz.3_5'UTR	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	55					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(1)|skin(1)	4		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)										0.136364	5.010887	7.826795	3	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111737651	111737651	13710	6	T	C	C	C	663	51	REV3L	4	4
DCBLD1	285761	broad.mit.edu	37	6	117824950	117824950	+	Missense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:117824950G>T	uc003pxs.2	+	c.133G>T	c.(133-135)GTG>TTG	p.V45L	GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Missense_Mutation_p.V45L	NM_173674	NP_775945	Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	45	CUB.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(1)	1		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)						15				0.115942	17.492438	37.540465	16	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117824950	117824950	4451	6	G	T	T	T	468	36	DCBLD1	2	2
SLC35F1	222553	broad.mit.edu	37	6	118596768	118596768	+	Nonsense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:118596768G>T	uc003pxx.3	+	c.784G>T	c.(784-786)GGA>TGA	p.G262*	SLC35F1_uc003pxy.1_Nonsense_Mutation_p.G67*	NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	262	Helical; (Potential).				transport	integral to membrane				breast(1)	1				GBM - Glioblastoma multiforme(226;0.217)										0.141509	23.147513	36.293361	15	91	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	118596768	118596768	15085	6	G	T	T	T	611	47	SLC35F1	5	2
HIVEP1	3096	broad.mit.edu	37	6	12122960	12122960	+	Nonsense_Mutation	SNP	A	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:12122960A>T	uc003nac.2	+	c.2932A>T	c.(2932-2934)AAG>TAG	p.K978*	HIVEP1_uc011diq.1_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	978	C2H2-type 3.				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)	5	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)												0.139175	37.211511	61.607193	27	167	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	12122960	12122960	7477	6	A	T	T	T	169	13	HIVEP1	5	3
C6orf170	221322	broad.mit.edu	37	6	121605039	121605039	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:121605039C>A	uc003pyo.1	-	c.1390G>T	c.(1390-1392)GAT>TAT	p.D464Y	C6orf170_uc003pyq.1_Non-coding_Transcript|C6orf170_uc003pyp.1_5'UTR	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322	464					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)										0.137931	4.877605	8.558024	4	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121605039	121605039	2449	6	C	A	A	A	416	32	C6orf170	2	2
MAP3K5	4217	broad.mit.edu	37	6	136904872	136904872	+	Missense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:136904872C>T	uc003qhc.2	-	c.3232G>A	c.(3232-3234)GAA>AAA	p.E1078K	MAP3K5_uc011edj.1_Missense_Mutation_p.E325K|MAP3K5_uc011edk.1_Missense_Mutation_p.E924K	NM_005923	NP_005914	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase	1078					activation of JUN kinase activity|activation of MAPKK activity|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			ovary(2)	2	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)						1151				0.08805	-0.168001	27.122475	14	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136904872	136904872	9636	6	C	T	T	T	377	29	MAP3K5	2	2
MAP3K5	4217	broad.mit.edu	37	6	137018361	137018361	+	Missense_Mutation	SNP	A	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:137018361A>G	uc003qhc.2	-	c.971T>C	c.(970-972)ATC>ACC	p.I324T	MAP3K5_uc011edk.1_Missense_Mutation_p.I169T|MAP3K5_uc010kgw.1_Missense_Mutation_p.I324T	NM_005923	NP_005914	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase	324					activation of JUN kinase activity|activation of MAPKK activity|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			ovary(2)	2	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)						1151				0.068966	0.488468	17.182957	6	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137018361	137018361	9636	6	A	G	G	G	156	12	MAP3K5	4	4
UTRN	7402	broad.mit.edu	37	6	144812236	144812236	+	Missense_Mutation	SNP	A	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:144812236A>G	uc003qkt.2	+	c.4435A>G	c.(4435-4437)ATG>GTG	p.M1479V		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1479	Spectrin 10.|Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(3)|pancreas(1)	4		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)										0.070423	-0.849458	26.169218	10	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144812236	144812236	17668	6	A	G	G	G	208	16	UTRN	4	4
LATS1	9113	broad.mit.edu	37	6	149982925	149982925	+	Silent	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:149982925C>A	uc003qmu.1	-	c.3333G>T	c.(3331-3333)TCG>TCT	p.S1111S	LATS1_uc010kif.1_Silent_p.S1006S	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	1111					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|protein phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)						149				0.042373	-16.220272	10.303661	5	113	KEEP	---	---	---	---	capture		Silent	SNP	149982925	149982925	8969	6	C	A	A	A	288	23	LATS1	1	1
LATS1	9113	broad.mit.edu	37	6	150001145	150001145	+	Missense_Mutation	SNP	T	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:150001145T>C	uc003qmu.1	-	c.2459A>G	c.(2458-2460)CAT>CGT	p.H820R	LATS1_uc010kif.1_Missense_Mutation_p.H715R|LATS1_uc003qmv.1_Missense_Mutation_p.H820R	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	820	Protein kinase.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|protein phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)						149				0.09	9.056779	43.158412	18	182	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150001145	150001145	8969	6	T	C	C	C	663	51	LATS1	4	4
LPA	4018	broad.mit.edu	37	6	160968971	160968971	+	Splice_Site_SNP	SNP	T	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:160968971T>C	uc003qtl.2	-	c.5156_splice	c.e33-1	p.D1719_splice		NM_005577	NP_005568			lipoprotein Lp(a) precursor						blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|pancreas(1)	4		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)									0.232	67.315559	75.536889	29	96	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	160968971	160968971	9276	6	T	C	C	C	715	55	LPA	5	4
OR2B6	26212	broad.mit.edu	37	6	27925333	27925333	+	Silent	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:27925333G>T	uc011dkx.1	+	c.315G>T	c.(313-315)CTG>CTT	p.L105L		NM_012367	NP_036499	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B,	105	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.118421	9.319875	20.193402	9	67	KEEP	---	---	---	---	capture		Silent	SNP	27925333	27925333	11397	6	G	T	T	T	600	47	OR2B6	2	2
RIPK1	8737	broad.mit.edu	37	6	3085519	3085519	+	Missense_Mutation	SNP	A	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:3085519A>G	uc010jni.2	+	c.715A>G	c.(715-717)ATG>GTG	p.M239V	RIPK1_uc003muv.3_Missense_Mutation_p.M76V|RIPK1_uc003muw.3_Missense_Mutation_p.M174V|RIPK1_uc011dhs.1_Missense_Mutation_p.M193V|RIPK1_uc003mux.2_Missense_Mutation_p.M239V	NM_003804	NP_003795	Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine	239	Protein kinase.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|regulation of oxygen and reactive oxygen species metabolic process|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|tumor necrosis factor-mediated signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			large_intestine(3)|lung(1)|skin(1)	5	Ovarian(93;0.0386)	all_hematologic(90;0.0895)								138				0.094017	12.838386	32.210999	11	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3085519	3085519	13857	6	A	G	G	G	52	4	RIPK1	4	4
COL11A2	1302	broad.mit.edu	37	6	33156855	33156855	+	Missense_Mutation	SNP	C	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:33156855C>G	uc003ocx.1	-	c.343G>C	c.(343-345)GAG>CAG	p.E115Q	COL11A2_uc003ocy.1_Missense_Mutation_p.E115Q|COL11A2_uc003ocz.1_Missense_Mutation_p.E115Q|COL11A2_uc003oda.2_Missense_Mutation_p.E115Q	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	115	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(1)	4						Melanoma(1;90 116 3946 5341 17093)								0.068966	-2.995601	24.780184	10	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33156855	33156855	3806	6	C	G	G	G	390	30	COL11A2	3	3
TAPBP	6892	broad.mit.edu	37	6	33272134	33272134	+	Missense_Mutation	SNP	T	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:33272134T>G	uc003odz.2	-	c.1150A>C	c.(1150-1152)ATT>CTT	p.I384L	TAPBP_uc003odx.1_Missense_Mutation_p.I384L|TAPBP_uc010jus.1_Missense_Mutation_p.I402L|TAPBP_uc003ody.2_3'UTR|TAPBP_uc010jut.1_Missense_Mutation_p.I297L|TAPBP_uc011drc.1_Missense_Mutation_p.I384L	NM_003190	NP_003181	O15533	TPSN_HUMAN	tapasin isoform 1 precursor	384	Ig-like C1-type.|Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			ovary(1)	1														0.079208	1.948839	20.180608	8	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33272134	33272134	16073	6	T	G	G	G	676	52	TAPBP	4	4
PPP2R5D	5528	broad.mit.edu	37	6	42974720	42974720	+	Missense_Mutation	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:42974720G>A	uc003oth.2	+	c.394G>A	c.(394-396)GTG>ATG	p.V132M	MEA1_uc010jyc.1_Intron|PPP2R5D_uc003otg.2_Missense_Mutation_p.V100M|PPP2R5D_uc010jyd.2_Missense_Mutation_p.V26M|PPP2R5D_uc011dva.1_De_novo_Start_InFrame|PPP2R5D_uc003oti.2_De_novo_Start_InFrame|PPP2R5D_uc003otj.2_De_novo_Start_InFrame	NM_006245	NP_006236	Q14738	2A5D_HUMAN	delta isoform of regulatory subunit B56, protein	132					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(1)	1			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			Melanoma(63;587 1613 29742 31770)								0.108527	18.608613	57.836987	28	230	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42974720	42974720	12831	6	G	A	A	A	520	40	PPP2R5D	1	1
TDRD6	221400	broad.mit.edu	37	6	46661230	46661230	+	Missense_Mutation	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:46661230G>A	uc003oyj.2	+	c.5365G>A	c.(5365-5367)GAT>AAT	p.D1789N	TDRD6_uc010jze.2_Missense_Mutation_p.D1783N	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1789					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)	5			Lung(136;0.192)											0.101796	8.939265	35.364992	17	150	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46661230	46661230	16261	6	G	A	A	A	585	45	TDRD6	2	2
DST	667	broad.mit.edu	37	6	56350220	56350220	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:56350220C>A	uc003pdf.2	-	c.14740G>T	c.(14740-14742)GCC>TCC	p.A4914S	DST_uc003pcz.3_Missense_Mutation_p.A4736S|DST_uc011dxj.1_Missense_Mutation_p.A4765S|DST_uc011dxk.1_Missense_Mutation_p.A4776S|DST_uc003pcy.3_Missense_Mutation_p.A4410S|DST_uc003pda.3_Missense_Mutation_p.A106S	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	6822	Spectrin 19.				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				0.06	-3.719779	6.405681	3	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56350220	56350220	4967	6	C	A	A	A	325	25	DST	2	2
F13A1	2162	broad.mit.edu	37	6	6248564	6248564	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:6248564C>A	uc003mwv.2	-	c.779G>T	c.(778-780)AGC>ATC	p.S260I	F13A1_uc011dib.1_Missense_Mutation_p.S197I	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	260					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)									0.061224	-3.516194	6.333114	3	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6248564	6248564	5534	6	C	A	A	A	364	28	F13A1	2	2
EYS	346007	broad.mit.edu	37	6	66115212	66115212	+	Nonsense_Mutation	SNP	C	T	T	rs34676630		TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:66115212C>T	uc011dxu.1	-	c.911G>A	c.(910-912)TGG>TAG	p.W304*	EYS_uc003peq.2_Nonsense_Mutation_p.W304*|EYS_uc003per.1_Nonsense_Mutation_p.W304*	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	304					response to stimulus|visual perception	extracellular region	calcium ion binding			ovary(1)	1														0.126316	16.328538	29.280627	12	83	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	66115212	66115212	5526	6	C	T	T	T	273	21	EYS	5	2
C6orf57	135154	broad.mit.edu	37	6	71298356	71298357	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:71298356_71298357GG>TT	uc003pfq.1	+	c.256_257GG>TT	c.(256-258)GGT>TTT	p.G86F		NM_145267	NP_660310	Q5VUM1	CF057_HUMAN	hypothetical protein LOC135154 precursor	86						extracellular region					0														0.129032	9.25283	17.567408	8	54	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	71298356	71298357	2472	6	GG	TT	TT	TT	455	35	C6orf57	2	2
SNAP91	9892	broad.mit.edu	37	6	84269834	84269834	+	Missense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:84269834G>T	uc011dze.1	-	c.2620C>A	c.(2620-2622)CCT>ACT	p.P874T	SNAP91_uc011dzd.1_Missense_Mutation_p.P372T|SNAP91_uc003pkb.2_Missense_Mutation_p.P783T|SNAP91_uc003pkc.2_Missense_Mutation_p.P844T|SNAP91_uc003pkd.2_Missense_Mutation_p.P567T|SNAP91_uc003pka.2_Missense_Mutation_p.P872T	NM_014841	NP_055656	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa homolog	874	Pro-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			ovary(1)	1		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)										0.109589	6.446898	17.465004	8	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84269834	84269834	15333	6	G	T	T	T	572	44	SNAP91	2	2
CASP8AP2	9994	broad.mit.edu	37	6	90572233	90572234	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:90572233_90572234GG>TT	uc003pnr.2	+	c.805_806GG>TT	c.(805-807)GGC>TTC	p.G269F	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.G269F|CASP8AP2_uc011dzz.1_Missense_Mutation_p.G269F	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	269					activation of caspase activity|cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		Colon(187;1656 2025 17045 31481 39901)								0.089947	8.982672	41.00329	17	172	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	90572233	90572234	2797	6	GG	TT	TT	TT	611	47	CASP8AP2	2	2
C6orf167	253714	broad.mit.edu	37	6	97677084	97677084	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:97677084C>A	uc003ppb.2	-	c.1725G>T	c.(1723-1725)ATG>ATT	p.M575I	C6orf167_uc011eaf.1_Missense_Mutation_p.M535I	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	575					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)										0.072464	-2.384506	10.600248	5	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97677084	97677084	2447	6	C	A	A	A	273	21	C6orf167	2	2
DOCK4	9732	broad.mit.edu	37	7	111368372	111368372	+	Silent	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:111368372G>T	uc003vfy.2	-	c.5994C>A	c.(5992-5994)GGC>GGA	p.G1998G	DOCK4_uc011kml.1_Silent_p.G834G|DOCK4_uc011kmm.1_Silent_p.G822G|DOCK4_uc003vfw.2_Silent_p.G1365G|DOCK4_uc003vfx.2_Silent_p.G1953G|DOCK4_uc003vfv.2_Silent_p.G266G	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1953	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(1;0.0441)												0.177215	24.714145	32.461049	14	65	KEEP	---	---	---	---	capture		Silent	SNP	111368372	111368372	4873	7	G	T	T	T	535	42	DOCK4	2	2
ZNF277	11179	broad.mit.edu	37	7	111846828	111846828	+	Silent	SNP	G	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:111846828G>C	uc003vge.2	+	c.57G>C	c.(55-57)GGG>GGC	p.G19G	DOCK4_uc003vfx.2_5'Flank|DOCK4_uc003vfy.2_5'Flank|DOCK4_uc003vga.1_5'Flank|DOCK4_uc010ljt.1_5'Flank|ZNF277_uc003vgd.2_Silent_p.G19G|ZNF277_uc003vgf.2_5'UTR|ZNF277_uc003vgc.2_Silent_p.G19G	NM_021994	NP_068834	Q9NRM2	ZN277_HUMAN	zinc finger protein (C2H2 type) 277	19					regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|breast(2)	4														0.276923	61.325183	64.233944	18	47	KEEP	---	---	---	---	capture		Silent	SNP	111846828	111846828	18404	7	G	C	C	C	522	41	ZNF277	3	3
PPP1R3A	5506	broad.mit.edu	37	7	113558626	113558626	+	Silent	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:113558626G>T	uc010ljy.1	-	c.426C>A	c.(424-426)ATC>ATA	p.I142I		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	142	CBM21.				glycogen metabolic process	integral to membrane				ovary(9)|pancreas(7)|skin(2)|breast(2)|lung(1)	21										235				0.116667	7.477622	16.156667	7	53	KEEP	---	---	---	---	capture		Silent	SNP	113558626	113558626	12806	7	G	T	T	T	577	45	PPP1R3A	2	2
FSCN3	29999	broad.mit.edu	37	7	127235632	127235632	+	Missense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:127235632G>T	uc003vmd.1	+	c.416G>T	c.(415-417)CGA>CTA	p.R139L	FSCN3_uc003vmc.1_Missense_Mutation_p.R94L|FSCN3_uc011kog.1_Non-coding_Transcript|FSCN3_uc011koh.1_Missense_Mutation_p.R5L|FSCN3_uc010llc.1_Missense_Mutation_p.R139L	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	fascin 3	139						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			ovary(1)	1														0.32381	92.116776	95.008498	34	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127235632	127235632	6319	7	G	T	T	T	481	37	FSCN3	1	1
PTN	5764	broad.mit.edu	37	7	136938296	136938296	+	Missense_Mutation	SNP	C	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:136938296C>G	uc003vtq.2	-	c.204G>C	c.(202-204)GAG>GAC	p.E68D	PTN_uc010lmx.2_Missense_Mutation_p.E68D|PTN_uc003vtr.1_Missense_Mutation_p.E68D	NM_002825	NP_002816	P21246	PTN_HUMAN	pleiotrophin	68					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity			pancreas(1)	1														0.125	16.343759	29.525688	12	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136938296	136938296	13223	7	C	G	G	G	311	24	PTN	3	3
DGKI	9162	broad.mit.edu	37	7	137308271	137308271	+	Silent	SNP	A	G	G	rs112061731		TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:137308271A>G	uc003vtt.2	-	c.834T>C	c.(832-834)AGT>AGC	p.S278S	DGKI_uc003vtu.2_5'UTR	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	278	Phorbol-ester/DAG-type 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2														0.314136	203.057527	208.914125	60	131	KEEP	---	---	---	---	capture		Silent	SNP	137308271	137308271	4650	7	A	G	G	G	180	14	DGKI	4	4
CREB3L2	64764	broad.mit.edu	37	7	137567363	137567363	+	Missense_Mutation	SNP	T	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:137567363T>C	uc003vtw.2	-	c.1282A>G	c.(1282-1284)AAC>GAC	p.N428D	CREB3L2_uc003vtv.2_Missense_Mutation_p.N365D	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like	428	Lumenal (Potential).				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	soft_tissue(158)|ovary(1)	159										123				0.12069	12.787372	20.965037	7	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137567363	137567363	3996	7	T	C	C	C	832	64	CREB3L2	4	4
AKR1D1	6718	broad.mit.edu	37	7	137792171	137792172	+	Silent	DNP	TC	AG	AG			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:137792171_137792172TC>AG	uc003vtz.2	+	c.700_701TC>AG	c.(700-702)TCT>AGT	p.S234S	AKR1D1_uc011kqe.1_Silent_p.S234S|AKR1D1_uc011kqf.1_Silent_p.S193S|AKR1D1_uc010lmy.1_Non-coding_Transcript	NM_005989	NP_005980	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	234					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion|oxidation-reduction process	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding				0														0.107843	11.851863	27.404607	11	91	KEEP	---	---	---	---	capture		Silent	DNP	137792171	137792172	476	7	TC	AG	AG	AG	806	62	AKR1D1	3	3
NDUFB2	4708	broad.mit.edu	37	7	140402688	140402688	+	Missense_Mutation	SNP	G	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:140402688G>C	uc003vwa.2	+	c.121G>C	c.(121-123)GAG>CAG	p.E41Q	NDUFB2_uc010lnl.2_Non-coding_Transcript	NM_004546	NP_004537	O95178	NDUB2_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	41					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			ovary(1)|central_nervous_system(1)	2	Melanoma(164;0.00956)				NADH(DB00157)									0.139159	91.81143	130.683888	43	266	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140402688	140402688	10680	7	G	C	C	C	585	45	NDUFB2	3	3
TAS2R39	259285	broad.mit.edu	37	7	142881086	142881086	+	Missense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142881086C>T	uc011ksw.1	+	c.575C>T	c.(574-576)TCC>TTC	p.S192F		NM_176881	NP_795362	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	192	Extracellular (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity				0	Melanoma(164;0.059)													0.07767	-1.97868	16.811904	8	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142881086	142881086	16098	7	C	T	T	T	390	30	TAS2R39	2	2
MEOX2	4223	broad.mit.edu	37	7	15652162	15652162	+	Silent	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:15652162C>A	uc003stc.2	-	c.765G>T	c.(763-765)CGG>CGT	p.R255R	MEOX2_uc011jxw.1_Silent_p.R255R	NM_005924	NP_005915	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	255					blood circulation|multicellular organismal development|regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		Esophageal Squamous(140;197 1769 16409 18257 29929)								0.166667	31.145784	43.167885	19	95	KEEP	---	---	---	---	capture		Silent	SNP	15652162	15652162	9863	7	C	A	A	A	275	22	MEOX2	2	2
TWISTNB	221830	broad.mit.edu	37	7	19738178	19738178	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:19738178C>A	uc003sup.1	-	c.778G>T	c.(778-780)GCC>TCC	p.A260S		NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN	TWIST neighbor	260	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			ovary(1)	1														0.176923	121.620119	160.019769	69	321	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19738178	19738178	17340	7	C	A	A	A	364	28	TWISTNB	2	2
ABCB5	340273	broad.mit.edu	37	7	20685435	20685435	+	Silent	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:20685435G>T	uc010kuh.2	+	c.735G>T	c.(733-735)GTG>GTT	p.V245V	ABCB5_uc003suw.3_5'Flank|ABCB5_uc003suv.3_5'Flank|ABCB5_uc011jyi.1_5'Flank	NM_001163941	NP_001157413	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	431	Cytoplasmic (Potential).|ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			large_intestine(1)|ovary(1)|pancreas(1)	3														0.208333	60.744446	72.120723	30	114	KEEP	---	---	---	---	capture		Silent	SNP	20685435	20685435	45	7	G	T	T	T	600	47	ABCB5	2	2
IGF2BP3	10643	broad.mit.edu	37	7	23509712	23509712	+	Silent	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:23509712G>T	uc003swg.2	-	c.18C>A	c.(16-18)ATC>ATA	p.I6I	IGF2BP3_uc003swh.1_Non-coding_Transcript	NM_006547	NP_006538	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding	6	RRM 1.				anatomical structure morphogenesis|negative regulation of translation|regulation of cytokine biosynthetic process|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			ovary(2)	2														0.195349	86.215123	104.831705	42	173	KEEP	---	---	---	---	capture		Silent	SNP	23509712	23509712	7876	7	G	T	T	T	473	37	IGF2BP3	1	1
MMD2	221938	broad.mit.edu	37	7	4965101	4965101	+	Missense_Mutation	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:4965101G>A	uc003sno.3	-	c.110C>T	c.(109-111)GCC>GTC	p.A37V	MMD2_uc003snl.1_Non-coding_Transcript|MMD2_uc003snn.3_Missense_Mutation_p.A37V|MMD2_uc010ksq.2_Missense_Mutation_p.A37V	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN	monocyte to macrophage	37	Cytoplasmic (Potential).					integral to membrane	receptor activity			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)										0.085	3.321366	38.173965	17	183	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4965101	4965101	10034	7	G	A	A	A	546	42	MMD2	2	2
AUTS2	26053	broad.mit.edu	37	7	70236556	70236556	+	Missense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:70236556G>T	uc003tvw.3	+	c.1756G>T	c.(1756-1758)GCA>TCA	p.A586S	AUTS2_uc003tvx.3_Missense_Mutation_p.A586S|AUTS2_uc011keg.1_Missense_Mutation_p.A38S	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	586										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)										0.132743	18.126187	32.97876	15	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70236556	70236556	1246	7	G	T	T	T	598	46	AUTS2	2	2
TAF6	6878	broad.mit.edu	37	7	99705159	99705159	+	Missense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:99705159C>T	uc003uth.2	-	c.1915G>A	c.(1915-1917)GTC>ATC	p.V639I	AP4M1_uc003utd.2_Intron|TAF6_uc003utg.2_Missense_Mutation_p.V504I|TAF6_uc003uti.2_Missense_Mutation_p.V582I|TAF6_uc003utk.2_Missense_Mutation_p.V582I|TAF6_uc011kji.1_Missense_Mutation_p.V619I|TAF6_uc003utj.2_Missense_Mutation_p.V572I|TAF6_uc003utl.2_Missense_Mutation_p.V572I|TAF6_uc003utm.2_Missense_Mutation_p.V582I	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha	582					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|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 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 initiation factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)													0.063063	-19.823417	24.371101	14	208	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99705159	99705159	16051	7	C	T	T	T	247	19	TAF6	1	1
DLC1	10395	broad.mit.edu	37	8	13356859	13356859	+	Missense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:13356859G>T	uc003wwm.2	-	c.722C>A	c.(721-723)CCT>CAT	p.P241H	DLC1_uc003wwn.2_Missense_Mutation_p.P241H|DLC1_uc011kxy.1_Missense_Mutation_p.P241H	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	241					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7										739				0.087432	2.160151	33.680989	16	167	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13356859	13356859	4730	8	G	T	T	T	455	35	DLC1	2	2
SCRIB	23513	broad.mit.edu	37	8	144890968	144890968	+	Silent	SNP	G	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:144890968G>C	uc003yzo.1	-	c.1926C>G	c.(1924-1926)CCC>CCG	p.P642P	SCRIB_uc003yzp.1_Silent_p.P642P	NM_182706	NP_874365	Q14160	SCRIB_HUMAN	scribble isoform a	642	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-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;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			Pancreas(51;966 1133 10533 14576 29674)				520				0.261307	153.669237	163.892363	52	147	KEEP	---	---	---	---	capture		Silent	SNP	144890968	144890968	14419	8	G	C	C	C	496	39	SCRIB	3	3
RECQL4	9401	broad.mit.edu	37	8	145742036	145742036	+	Missense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:145742036C>T	uc003zdj.2	-	c.467G>A	c.(466-468)AGT>AAT	p.S156N	LRRC14_uc003zdk.1_5'Flank|LRRC14_uc003zdl.1_5'Flank	NM_004260	NP_004251	O94761	RECQ4_HUMAN	RecQ protein-like 4	156					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			skin(1)	1	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)							474				0.111111	3.171654	8.557808	4	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145742036	145742036	13671	8	C	T	T	T	260	20	RECQL4	2	2
SORBS3	10174	broad.mit.edu	37	8	22415693	22415693	+	Silent	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:22415693C>A	uc003xbv.2	+	c.466C>A	c.(466-468)CGG>AGG	p.R156R	SORBS3_uc011kzk.1_Non-coding_Transcript	NM_005775	NP_005766	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3 isoform 1	156	SoHo.				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding				0		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)										0.036364	-17.288009	8.351363	4	106	KEEP	---	---	---	---	capture		Silent	SNP	22415693	22415693	15429	8	C	A	A	A	295	23	SORBS3	1	1
EBF2	64641	broad.mit.edu	37	8	25902344	25902344	+	Missense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:25902344C>T	uc003xes.1	-	c.32G>A	c.(31-33)GGA>GAA	p.G11E	PPP2R2A_uc003xek.2_Intron|EBF2_uc003xet.1_Missense_Mutation_p.G11E	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	early B-cell factor 2	11					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|transcription regulator activity			ovary(3)	3		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)								0.123894	16.874562	32.504013	14	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25902344	25902344	5067	8	C	T	T	T	390	30	EBF2	2	2
KCNU1	157855	broad.mit.edu	37	8	36641964	36641964	+	Silent	SNP	A	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:36641964A>G	uc010lvw.2	+	c.36A>G	c.(34-36)GAA>GAG	p.E12E	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	12	Extracellular (Potential).					voltage-gated potassium channel complex	binding|catalytic activity|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)										0.071429	0.690447	8.638627	3	39	KEEP	---	---	---	---	capture		Silent	SNP	36641964	36641964	8398	8	A	G	G	G	37	3	KCNU1	4	4
KCNU1	157855	broad.mit.edu	37	8	36766921	36766921	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:36766921C>A	uc010lvw.2	+	c.2199C>A	c.(2197-2199)AAC>AAA	p.N733K	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	733	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|catalytic activity|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)										0.083333	0.332362	53.292584	25	275	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36766921	36766921	8398	8	C	A	A	A	259	20	KCNU1	2	2
THAP1	55145	broad.mit.edu	37	8	42693223	42693223	+	Missense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:42693223C>T	uc003xpk.2	-	c.524G>A	c.(523-525)CGG>CAG	p.R175Q	THAP1_uc003xpl.2_3'UTR	NM_018105	NP_060575	Q9NVV9	THAP1_HUMAN	THAP domain containing, apoptosis associated	175	Potential.				cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	sequence-specific DNA binding|transcription regulator activity|zinc ion binding				0	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)											0.169082	72.495798	93.95432	35	172	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42693223	42693223	16369	8	C	T	T	T	299	23	THAP1	1	1
ATP6V1H	51606	broad.mit.edu	37	8	54714430	54714430	+	Silent	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:54714430G>A	uc003xrl.2	-	c.606C>T	c.(604-606)GCC>GCT	p.A202A	ATP6V1H_uc003xrk.2_Silent_p.A162A|ATP6V1H_uc003xrm.2_Silent_p.A202A|ATP6V1H_uc003xrn.2_Silent_p.A184A|ATP6V1H_uc011ldv.1_Silent_p.A122A|ATP6V1H_uc010lyd.2_Silent_p.A138A	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1	202					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism				0		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)											0.071429	-2.444845	8.156748	4	52	KEEP	---	---	---	---	capture		Silent	SNP	54714430	54714430	1208	8	G	A	A	A	496	39	ATP6V1H	1	1
LYN	4067	broad.mit.edu	37	8	56879313	56879313	+	Missense_Mutation	SNP	T	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:56879313T>C	uc003xsk.3	+	c.830T>C	c.(829-831)CTG>CCG	p.L277P	LYN_uc003xsl.3_Missense_Mutation_p.L256P	NM_002350	NP_002341	P07948	LYN_HUMAN	Yamaguchi sarcoma viral (v-yes-1) oncogene	277	Protein kinase.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)							240				0.168831	27.727889	35.723471	13	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56879313	56879313	9484	8	T	C	C	C	715	55	LYN	4	4
MOS	4342	broad.mit.edu	37	8	57025678	57025678	+	Nonsense_Mutation	SNP	G	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:57025678G>C	uc011leb.1	-	c.864C>G	c.(862-864)TAC>TAG	p.Y288*		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	288	Protein kinase.				protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)	3			Epithelial(17;0.00117)|all cancers(17;0.00879)			Esophageal Squamous(124;373 2870 4778)				32				0.053571	-5.008947	6.754153	3	53	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	57025678	57025678	10104	8	G	C	C	C	516	40	MOS	5	3
ZFHX4	79776	broad.mit.edu	37	8	77764222	77764222	+	Missense_Mutation	SNP	C	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77764222C>G	uc003yav.2	+	c.4930C>G	c.(4930-4932)CAG>GAG	p.Q1644E	ZFHX4_uc003yau.1_Missense_Mutation_p.Q1689E|ZFHX4_uc003yaw.1_Missense_Mutation_p.Q1644E	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1644	Gln-rich.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)											0.245455	83.770085	90.260678	27	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77764222	77764222	18223	8	C	G	G	G	221	17	ZFHX4	3	3
ZFHX4	79776	broad.mit.edu	37	8	77766190	77766190	+	Missense_Mutation	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77766190G>A	uc003yav.2	+	c.6898G>A	c.(6898-6900)GAT>AAT	p.D2300N	ZFHX4_uc003yau.1_Missense_Mutation_p.D2345N|ZFHX4_uc003yaw.1_Missense_Mutation_p.D2300N	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2300					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)											0.066667	-12.762227	45.646819	20	280	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77766190	77766190	18223	8	G	A	A	A	429	33	ZFHX4	2	2
FABP12	646486	broad.mit.edu	37	8	82439309	82439309	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:82439309C>A	uc011lfp.1	-	c.294G>T	c.(292-294)TGG>TGT	p.W98C	FABP12_uc003ycg.3_Non-coding_Transcript	NM_001105281	NP_001098751	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	98							lipid binding|transporter activity				0														0.157895	5.611754	7.732953	3	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82439309	82439309	5553	8	C	A	A	A	286	22	FABP12	2	2
PSKH2	85481	broad.mit.edu	37	8	87060752	87060752	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:87060752C>A	uc011lfy.1	-	c.1097G>T	c.(1096-1098)AGG>ATG	p.R366M		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	366					protein phosphorylation		ATP binding|protein serine/threonine kinase activity			lung(2)|ovary(1)	3			STAD - Stomach adenocarcinoma(118;0.129)						p.R366M(NCIH460-Tumor)	100				0.143519	43.969328	70.422602	31	185	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87060752	87060752	13118	8	C	A	A	A	312	24	PSKH2	2	2
RUNX1T1	862	broad.mit.edu	37	8	93026810	93026810	+	Silent	SNP	T	A	A	rs34991280		TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:93026810T>A	uc011lgi.1	-	c.498A>T	c.(496-498)CTA>CTT	p.L166L	RUNX1T1_uc003yfc.1_Silent_p.L128L|RUNX1T1_uc003yfd.2_Silent_p.L155L|RUNX1T1_uc003yfe.1_Silent_p.L118L|RUNX1T1_uc010mao.2_Silent_p.L128L|RUNX1T1_uc003yfh.1_Silent_p.L118L|RUNX1T1_uc003yfb.1_Silent_p.L118L|RUNX1T1_uc003yff.1_Silent_p.L118L|RUNX1T1_uc003yfg.1_Silent_p.L118L	NM_175636	NP_783554	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	155	TAFH.				generation of precursor metabolites and energy|regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|central_nervous_system(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(11;0.0141)						p.L155L(NCIH446-Tumor)|p.L155L(NCIH358-Tumor)|p.L155L(CFPAC1-Tumor)	213				0.049383	-20.133017	14.796986	8	154	KEEP	---	---	---	---	capture		Silent	SNP	93026810	93026810	14227	8	T	A	A	A	678	53	RUNX1T1	3	3
TNC	3371	broad.mit.edu	37	9	117849201	117849201	+	Missense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:117849201C>T	uc004bjj.3	-	c.809G>A	c.(808-810)TGC>TAC	p.C270Y	TNC_uc010mvf.2_Missense_Mutation_p.C270Y	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	270	EGF-like 4.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|ovary(1)	5														0.131868	11.229751	23.228601	12	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117849201	117849201	16811	9	C	T	T	T	325	25	TNC	2	2
STOM	2040	broad.mit.edu	37	9	124116915	124116915	+	Silent	SNP	A	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:124116915A>G	uc004blh.2	-	c.202T>C	c.(202-204)TTG>CTG	p.L68L	STOM_uc011lyk.1_Silent_p.L17L|STOM_uc004bli.2_Intron	NM_004099	NP_004090	P27105	STOM_HUMAN	stomatin isoform a	68	Cytoplasmic (Potential).				protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding				0				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)										0.053571	-3.721338	8.051923	3	53	KEEP	---	---	---	---	capture		Silent	SNP	124116915	124116915	15832	9	A	G	G	G	50	4	STOM	4	4
RBM18	92400	broad.mit.edu	37	9	125004274	125004274	+	Silent	SNP	C	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:125004274C>G	uc004bma.2	-	c.462G>C	c.(460-462)GCG>GCC	p.A154A	RBM18_uc004blz.2_Non-coding_Transcript|RBM18_uc010mvy.2_Non-coding_Transcript|RBM18_uc011lyp.1_Non-coding_Transcript	NM_033117	NP_149108	Q96H35	RBM18_HUMAN	RNA binding motif protein 18	154							nucleotide binding|RNA binding				0														0.27451	40.68149	43.055848	14	37	KEEP	---	---	---	---	capture		Silent	SNP	125004274	125004274	13581	9	C	G	G	G	288	23	RBM18	3	3
PBX3	5090	broad.mit.edu	37	9	128697856	128697856	+	Silent	SNP	G	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:128697856G>C	uc004bqb.2	+	c.813G>C	c.(811-813)CTG>CTC	p.L271L	PBX3_uc004bqc.2_Silent_p.L90L|PBX3_uc004bqd.2_Silent_p.L90L|PBX3_uc011lzw.1_Silent_p.L196L|PBX3_uc011lzx.1_Silent_p.L182L|PBX3_uc004bqe.2_Silent_p.L158L	NM_006195	NP_006186	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3 isoform 1	271	Homeobox; TALE-type.				anterior compartment pattern formation|posterior compartment specification|regulation of transcription, DNA-dependent		sequence-specific DNA binding transcription factor activity|transcription regulator activity				0														0.314286	32.711463	33.786028	11	24	KEEP	---	---	---	---	capture		Silent	SNP	128697856	128697856	11914	9	G	C	C	C	600	47	PBX3	3	3
SH2D3C	10044	broad.mit.edu	37	9	130507147	130507147	+	Missense_Mutation	SNP	T	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:130507147T>G	uc004bsc.2	-	c.1496A>C	c.(1495-1497)CAG>CCG	p.Q499P	SH2D3C_uc010mxo.2_Missense_Mutation_p.Q339P|SH2D3C_uc004bry.2_Missense_Mutation_p.Q341P|SH2D3C_uc004brz.3_Missense_Mutation_p.Q145P|SH2D3C_uc011mak.1_Missense_Mutation_p.Q145P|SH2D3C_uc004bsa.2_Missense_Mutation_p.Q342P|SH2D3C_uc004bsb.2_Missense_Mutation_p.Q431P	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C isoform a	499					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			ovary(1)	1														0.10241	18.288441	44.426914	17	149	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130507147	130507147	14725	9	T	G	G	G	715	55	SH2D3C	4	4
FCN2	2220	broad.mit.edu	37	9	137774413	137774413	+	Missense_Mutation	SNP	A	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:137774413A>G	uc004cfg.1	+	c.142A>G	c.(142-144)ATT>GTT	p.I48V	FCN2_uc004cfh.1_Intron	NM_004108	NP_004099	Q15485	FCN2_HUMAN	ficolin 2 isoform a precursor	48					complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			large_intestine(1)	1		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)										0.219355	84.702158	95.924024	34	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137774413	137774413	6029	9	A	G	G	G	104	8	FCN2	4	4
TTC39B	158219	broad.mit.edu	37	9	15177755	15177755	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:15177755C>A	uc003zlr.1	-	c.1583G>T	c.(1582-1584)TGC>TTC	p.C528F	TTC39B_uc003zlq.1_Missense_Mutation_p.C497F|TTC39B_uc011lmp.1_Missense_Mutation_p.C429F|TTC39B_uc010mie.1_Missense_Mutation_p.C526F|TTC39B_uc011lmq.1_Missense_Mutation_p.C515F|TTC39B_uc011lmr.1_Missense_Mutation_p.C459F|TTC39B_uc003zlp.1_Missense_Mutation_p.C111F	NM_152574	NP_689787	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	528	TPR 2.						binding			ovary(1)	1														0.166667	20.479331	27.436074	11	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15177755	15177755	17263	9	C	A	A	A	325	25	TTC39B	2	2
C9orf93	203238	broad.mit.edu	37	9	15578885	15578885	+	Silent	SNP	C	A	A	rs34754760	by1000genomes	TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:15578885C>A	uc011lmu.1	+	c.216C>A	c.(214-216)TCC>TCA	p.S72S	C9orf93_uc010mih.1_Silent_p.S72S|C9orf93_uc003zmd.2_Silent_p.S72S|C9orf93_uc003zme.2_5'UTR|C9orf93_uc003zmc.2_Silent_p.S72S	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	72	Potential.										0				GBM - Glioblastoma multiforme(50;4.84e-07)										0.047619	-7.331388	6.397048	3	60	KEEP	---	---	---	---	capture		Silent	SNP	15578885	15578885	2622	9	C	A	A	A	288	23	C9orf93	1	1
FAM154A	158297	broad.mit.edu	37	9	18941806	18941806	+	Missense_Mutation	SNP	C	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:18941806C>G	uc003zni.1	-	c.250G>C	c.(250-252)GTG>CTG	p.V84L	FAM154A_uc010mip.1_Intron	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	hypothetical protein LOC158297	84										pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.53e-16)										0.090909	12.595247	40.43386	15	150	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18941806	18941806	5661	9	C	G	G	G	260	20	FAM154A	3	3
VLDLR	7436	broad.mit.edu	37	9	2635500	2635500	+	Missense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:2635500C>T	uc003zhk.1	+	c.130C>T	c.(130-132)CGC>TGC	p.R44C	VLDLR_uc003zhl.1_Missense_Mutation_p.R44C|VLDLR_uc003zhm.1_Non-coding_Transcript|VLDLR_uc003zhn.1_Missense_Mutation_p.R44C	NM_003383	NP_003374	P98155	VLDLR_HUMAN	very low density lipoprotein receptor isoform a	44	Extracellular (Potential).|LDL-receptor class A 1.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)										0.281369	186.14402	197.439583	74	189	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2635500	2635500	17741	9	C	T	T	T	403	31	VLDLR	1	1
TAF1L	138474	broad.mit.edu	37	9	32630923	32630923	+	Missense_Mutation	SNP	T	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:32630923T>C	uc003zrg.1	-	c.4655A>G	c.(4654-4656)AAT>AGT	p.N1552S		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1552	Bromo 2.				male meiosis|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding|transcription activator activity			lung(8)|large_intestine(3)|central_nervous_system(3)|skin(2)|ovary(2)|breast(1)|pancreas(1)	20			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)						234				0.175182	62.03802	75.650759	24	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32630923	32630923	16044	9	T	C	C	C	676	52	TAF1L	4	4
KIF24	347240	broad.mit.edu	37	9	34255868	34255868	+	Missense_Mutation	SNP	C	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:34255868C>G	uc003zua.3	-	c.3737G>C	c.(3736-3738)TGC>TCC	p.C1246S	KIF24_uc010mkb.2_Intron	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1246					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0			LUSC - Lung squamous cell carcinoma(29;0.0107)									OREG0019148	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.085106	2.060841	10.272266	4	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34255868	34255868	8603	9	C	G	G	G	325	25	KIF24	3	3
RGP1	9827	broad.mit.edu	37	9	35752769	35752769	+	Silent	SNP	A	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35752769A>G	uc011lpe.1	+	c.1194A>G	c.(1192-1194)GTA>GTG	p.V398V	GBA2_uc011lpd.1_5'Flank|RGP1_uc011lpf.1_Silent_p.V358V	NM_001080496	NP_001073965	Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog	358										ovary(1)	1	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)											0.222222	24.283181	26.836335	8	28	KEEP	---	---	---	---	capture		Silent	SNP	35752769	35752769	13757	9	A	G	G	G	184	15	RGP1	4	4
PRUNE2	158471	broad.mit.edu	37	9	79320297	79320297	+	Missense_Mutation	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:79320297G>A	uc010mpk.2	-	c.6893C>T	c.(6892-6894)GCC>GTC	p.A2298V	PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	2298					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0														0.235294	33.958166	38.323374	16	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79320297	79320297	13092	9	G	A	A	A	546	42	PRUNE2	2	2
FOXB2	442425	broad.mit.edu	37	9	79634737	79634737	+	Missense_Mutation	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:79634737G>A	uc004ako.1	+	c.167G>A	c.(166-168)CGC>CAC	p.R56H		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	forkhead box B2	56	Fork-head.				brain development|embryo development|negative regulation of gene-specific transcription from RNA polymerase II promoter|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0														0.217391	18.924348	22.315887	10	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79634737	79634737	6235	9	G	A	A	A	494	38	FOXB2	1	1
FLJ46321	389763	broad.mit.edu	37	9	84608828	84608828	+	Missense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:84608828C>T	uc004amn.2	+	c.3443C>T	c.(3442-3444)CCT>CTT	p.P1148L		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	1148						integral to membrane					0														0.122449	8.81402	15.652862	6	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84608828	84608828	6174	9	C	T	T	T	312	24	FLJ46321	2	2
TAF7L	54457	broad.mit.edu	37	X	100531506	100531506	+	Missense_Mutation	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:100531506C>T	uc004ehb.2	-	c.960G>A	c.(958-960)ATG>ATA	p.M320I	TAF7L_uc004eha.2_Intron|TAF7L_uc004ehc.1_Missense_Mutation_p.M234I	NM_024885	NP_079161	Q5H9L4	TAF7L_HUMAN	TATA box binding protein-associated factor, RNA	320					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding|general RNA polymerase II transcription factor activity			breast(1)	1						Ovarian(104;431 1530 3210 15406 18594)								0.297297	108.029642	113.474663	44	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100531506	100531506	16054	23	C	T	T	T	325	25	TAF7L	2	2
NRK	203447	broad.mit.edu	37	X	105153552	105153552	+	Missense_Mutation	SNP	T	C	C			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:105153552T>C	uc004emd.2	+	c.1919T>C	c.(1918-1920)ATA>ACA	p.I640T	NRK_uc010npc.1_Missense_Mutation_p.I308T	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	640					protein phosphorylation		ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14										430				0.454545	16.575055	16.594559	5	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105153552	105153552	11060	23	T	C	C	C	637	49	NRK	4	4
MORC4	79710	broad.mit.edu	37	X	106221360	106221360	+	Missense_Mutation	SNP	G	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:106221360G>A	uc004emu.3	-	c.1006C>T	c.(1006-1008)CAT>TAT	p.H336Y	MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Missense_Mutation_p.H336Y|MORC4_uc004emw.3_Missense_Mutation_p.H84Y	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	zinc finger, CW type with coiled-coil domain 2	336							ATP binding|zinc ion binding			ovary(1)	1														0.152778	17.272436	25.585071	11	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106221360	106221360	10095	23	G	A	A	A	585	45	MORC4	2	2
OCRL	4952	broad.mit.edu	37	X	128694569	128694569	+	Missense_Mutation	SNP	T	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:128694569T>A	uc004euq.2	+	c.765T>A	c.(763-765)GAT>GAA	p.D255E	OCRL_uc004eur.2_Missense_Mutation_p.D255E	NM_000276	NP_000267	Q01968	OCRL_HUMAN	phosphatidylinositol polyphosphate 5-phosphatase	255					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			lung(2)|ovary(1)|kidney(1)	4														0.246154	40.779063	44.584938	16	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128694569	128694569	11228	23	T	A	A	A	634	49	OCRL	3	3
IGSF1	3547	broad.mit.edu	37	X	130412660	130412660	+	Missense_Mutation	SNP	T	G	G			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:130412660T>G	uc004ewd.2	-	c.1816A>C	c.(1816-1818)AAG>CAG	p.K606Q	IGSF1_uc004ewe.3_Missense_Mutation_p.K600Q|IGSF1_uc004ewf.2_Missense_Mutation_p.K586Q	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	606	Extracellular (Potential).|Ig-like C2-type 6.				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														0.153846	35.196146	45.614972	14	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130412660	130412660	7897	23	T	G	G	G	806	62	IGSF1	4	4
SPRY3	10251	broad.mit.edu	37	X	155004005	155004005	+	Missense_Mutation	SNP	T	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:155004005T>A	uc004fnq.1	+	c.472T>A	c.(472-474)TGC>AGC	p.C158S	SPRY3_uc010nvl.1_Intron	NM_005840	NP_005831	O43610	SPY3_HUMAN	sprouty homolog 3	158	SPR.|Cys-rich.				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane					0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)													0.137097	48.087506	79.699602	34	214	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155004005	155004005	15621	23	T	A	A	A	715	55	SPRY3	3	3
HUWE1	10075	broad.mit.edu	37	X	53585707	53585707	+	Missense_Mutation	SNP	C	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:53585707C>A	uc004dsp.2	-	c.8069G>T	c.(8068-8070)CGA>CTA	p.R2690L	HUWE1_uc004dsn.2_Missense_Mutation_p.R1514L|MIR98_hsa-mir-98|MI0000100_5'Flank|MIRLET7F2_hsa-let-7f-2|MI0000068_5'Flank	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	2690					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17														0.333333	112.149987	115.107079	40	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53585707	53585707	7761	23	C	A	A	A	403	31	HUWE1	1	1
FAAH2	158584	broad.mit.edu	37	X	57318978	57318978	+	Silent	SNP	C	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:57318978C>T	uc004dvc.2	+	c.240C>T	c.(238-240)GAC>GAT	p.D80D		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	80						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			ovary(3)	3														0.346154	24.66645	25.210092	9	17	KEEP	---	---	---	---	capture		Silent	SNP	57318978	57318978	5551	23	C	T	T	T	246	19	FAAH2	1	1
ZMYM3	9203	broad.mit.edu	37	X	70462880	70462880	+	Missense_Mutation	SNP	T	A	A			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:70462880T>A	uc004dzh.1	-	c.3487A>T	c.(3487-3489)ACT>TCT	p.T1163S	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.T1163S|ZMYM3_uc004dzj.1_Missense_Mutation_p.T1151S	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	zinc finger protein 261	1163					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Renal(35;0.156)													0.175439	17.111731	22.781348	10	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70462880	70462880	18292	23	T	A	A	A	754	58	ZMYM3	3	3
ATRX	546	broad.mit.edu	37	X	76763965	76763965	+	Missense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:76763965G>T	uc004ecp.3	-	c.7343C>A	c.(7342-7344)CCT>CAT	p.P2448H	ATRX_uc004ecq.3_Missense_Mutation_p.P2410H|ATRX_uc004eco.3_Missense_Mutation_p.P2233H	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	2448					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)					2				0.166667	26.374767	35.852493	15	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76763965	76763965	1227	23	G	T	T	T	455	35	ATRX	2	2
TGIF2LX	90316	broad.mit.edu	37	X	89177451	89177451	+	Missense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:89177451G>T	uc004efe.2	+	c.367G>T	c.(367-369)GGC>TGC	p.G123C		NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	123					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.202899	27.706383	33.368955	14	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89177451	89177451	16355	23	G	T	T	T	611	47	TGIF2LX	2	2
PCDH11Y	83259	broad.mit.edu	37	Y	4925348	4925348	+	Nonsense_Mutation	SNP	G	T	T			TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chrY:4925348G>T	uc004fqo.2	+	c.484G>T	c.(484-486)GAA>TAA	p.E162*	PCDH11Y_uc010nwg.1_Nonsense_Mutation_p.E151*|PCDH11Y_uc004fql.1_Nonsense_Mutation_p.E151*|PCDH11Y_uc004fqm.1_Nonsense_Mutation_p.E151*|PCDH11Y_uc004fqn.1_Nonsense_Mutation_p.E162*	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked isoform c	162	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.285714	23.932389	25.376734	10	25	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	4925348	4925348	11929	24	G	T	T	T	429	33	PCDH11Y	5	2
ARID3B	10620	broad.mit.edu	37	15	74836314	74836316	+	In_Frame_Del	DEL	CAA	-	-	rs8043032	by1000genomes	TCGA-35-4122-01	TCGA-35-4122-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:74836314_74836316delCAA	uc002aye.2	+	c.37_39delCAA	c.(37-39)CAAdel	p.Q15del	ARID3B_uc002ayc.2_In_Frame_Del_p.Q15del|ARID3B_uc002ayd.2_In_Frame_Del_p.Q15del	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B	15	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0														0.33			7	14		---	---	---	---	capture_indel		In_Frame_Del	DEL	74836314	74836316	932	15	CAA	-	-	-	325	25	ARID3B	5	5
