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
AS3MT	57412	broad.mit.edu	37	10	104638636	104638636	+	Missense_Mutation	SNP	G	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:104638636G>C	uc001kwj.2	+	c.779G>C	c.(778-780)CGC>CCC	p.R260P	AS3MT_uc009xxh.2_Missense_Mutation_p.R258P|AS3MT_uc001kwk.2_Missense_Mutation_p.R258P	NM_020682	NP_065733	Q9HBK9	AS3MT_HUMAN	arsenic (+3 oxidation state) methyltransferase	258					arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity				0		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)										0.258621	88.699274	94.81966	30	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104638636	104638636	1023	10	G	C	C	C	494	38	AS3MT	3	3
ACSL5	51703	broad.mit.edu	37	10	114169302	114169302	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:114169302G>T	uc001kzu.2	+	c.738G>T	c.(736-738)AAG>AAT	p.K246N	ACSL5_uc001kzs.2_Missense_Mutation_p.K190N|ACSL5_uc001kzt.2_Missense_Mutation_p.K190N|ACSL5_uc009xxz.2_Missense_Mutation_p.K190N|ACSL5_uc010qrj.1_De_novo_Start_InFrame	NM_016234	NP_057318	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	190	Cytoplasmic (Potential).				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(2)	2		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)										0.222973	72.489148	82.94442	33	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114169302	114169302	181	10	G	T	T	T	451	35	ACSL5	2	2
C10orf47	254427	broad.mit.edu	37	10	11908754	11908754	+	Silent	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:11908754G>A	uc001ikx.2	+	c.363G>A	c.(361-363)GAG>GAA	p.E121E		NM_153256	NP_694988	Q86WR7	CJ047_HUMAN	hypothetical protein LOC254427	121										central_nervous_system(1)	1														0.290323	48.609633	51.063023	18	44	KEEP	---	---	---	---	capture		Silent	SNP	11908754	11908754	1642	10	G	A	A	A	451	35	C10orf47	2	2
GRK5	2869	broad.mit.edu	37	10	121140407	121140407	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:121140407C>A	uc001led.2	+	c.229C>A	c.(229-231)CTG>ATG	p.L77M	GRK5_uc009xzh.2_De_novo_Start_OutOfFrame|GRK5_uc010qta.1_De_novo_Start_InFrame	NM_005308	NP_005299	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	77	N-terminal.|RGS.				G-protein signaling, coupled to cAMP nucleotide second messenger|protein phosphorylation|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			lung(2)	2		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)						989				0.246154	74.52914	82.161799	32	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121140407	121140407	7071	10	C	A	A	A	363	28	GRK5	2	2
CPXM2	119587	broad.mit.edu	37	10	125521438	125521438	+	Missense_Mutation	SNP	T	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:125521438T>A	uc001lhk.1	-	c.1727A>T	c.(1726-1728)CAG>CTG	p.Q576L	CPXM2_uc001lhj.2_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	576					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)										0.296296	43.080513	45.083608	16	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125521438	125521438	3977	10	T	A	A	A	715	55	CPXM2	3	3
MSRB2	22921	broad.mit.edu	37	10	23409753	23409753	+	Missense_Mutation	SNP	A	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:23409753A>C	uc001iro.2	+	c.511A>C	c.(511-513)AAC>CAC	p.N171H		NM_012228	NP_036360	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2 precursor	171					oxidation-reduction process|protein repair	mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0					L-Methionine(DB00134)	Esophageal Squamous(89;1240 1363 4973 30188 42299)								0.2375	54.892434	59.923142	19	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23409753	23409753	10281	10	A	C	C	C	65	5	MSRB2	4	4
KIAA1462	57608	broad.mit.edu	37	10	30317504	30317504	+	Nonsense_Mutation	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:30317504G>A	uc009xle.1	-	c.1573C>T	c.(1573-1575)CAG>TAG	p.Q525*	KIAA1462_uc001iux.2_Nonsense_Mutation_p.Q525*|KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Nonsense_Mutation_p.Q387*	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	525										ovary(4)	4														0.229682	134.716966	153.694777	65	218	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	30317504	30317504	8543	10	G	A	A	A	624	48	KIAA1462	5	2
EPC1	80314	broad.mit.edu	37	10	32573907	32573907	+	Missense_Mutation	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:32573907G>A	uc001iwg.1	-	c.1463C>T	c.(1462-1464)TCA>TTA	p.S488L	EPC1_uc001iwi.3_Missense_Mutation_p.S438L|EPC1_uc009xlt.2_Missense_Mutation_p.S438L|EPC1_uc001iwh.1_Missense_Mutation_p.S488L	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN	enhancer of polycomb 1	488					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex	transcription activator activity|transcription repressor activity			ovary(3)|central_nervous_system(1)	4		Prostate(175;0.0199)												0.26178	124.254875	134.068408	50	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32573907	32573907	5353	10	G	A	A	A	585	45	EPC1	2	2
ANK3	288	broad.mit.edu	37	10	61833765	61833765	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:61833765C>A	uc001jky.2	-	c.6874G>T	c.(6874-6876)GGT>TGT	p.G2292C	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	2292					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			ovary(6)|pancreas(2)|central_nervous_system(1)|skin(1)	10														0.331492	165.969643	170.508233	60	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61833765	61833765	625	10	C	A	A	A	312	24	ANK3	2	2
LRRTM3	347731	broad.mit.edu	37	10	68857483	68857483	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:68857483G>T	uc001jmz.1	+	c.1675G>T	c.(1675-1677)GAG>TAG	p.E559*	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	559	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1														0.162791	21.186244	30.497035	14	72	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	68857483	68857483	9417	10	G	T	T	T	429	33	LRRTM3	5	2
MAT1A	4143	broad.mit.edu	37	10	82036276	82036276	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:82036276C>A	uc001kbw.2	-	c.624G>T	c.(622-624)CAG>CAT	p.Q208H		NM_000429	NP_000420	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	208					cellular amino acid metabolic process|methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)									0.296296	207.267961	217.30594	80	190	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82036276	82036276	9713	10	C	A	A	A	363	28	MAT1A	2	2
AGAP11	119385	broad.mit.edu	37	10	88769369	88769369	+	Missense_Mutation	SNP	C	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:88769369C>G	uc001kee.2	+	c.1360C>G	c.(1360-1362)CAC>GAC	p.H454D	AGAP11_uc001kef.2_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase	454					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0														0.251309	133.625895	144.349083	48	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88769369	88769369	369	10	C	G	G	G	325	25	AGAP11	3	3
MMP3	4314	broad.mit.edu	37	11	102713485	102713485	+	Missense_Mutation	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:102713485G>A	uc001phj.1	-	c.268C>T	c.(268-270)CCC>TCC	p.P90S		NM_002422	NP_002413	P08254	MMP3_HUMAN	matrix metalloproteinase 3 preproprotein	90	Cysteine switch (By similarity).				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)									0.348837	37.448126	38.34402	15	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102713485	102713485	10057	11	G	A	A	A	546	42	MMP3	2	2
DLAT	1737	broad.mit.edu	37	11	111896296	111896296	+	Missense_Mutation	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:111896296G>A	uc001pmo.2	+	c.100G>A	c.(100-102)GTG>ATG	p.V34M	DLAT_uc009yyk.1_Missense_Mutation_p.V34M|DLAT_uc010rwr.1_Missense_Mutation_p.V34M	NM_001931	NP_001922	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase precursor	34					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding				0		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)									0.079365	-1.275965	10.106791	5	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111896296	111896296	4729	11	G	A	A	A	468	36	DLAT	2	2
USP28	57646	broad.mit.edu	37	11	113699991	113699991	+	Nonsense_Mutation	SNP	A	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:113699991A>T	uc001poh.2	-	c.987T>A	c.(985-987)TGT>TGA	p.C329*	USP28_uc001pog.2_Nonsense_Mutation_p.C37*|USP28_uc010rwy.1_Nonsense_Mutation_p.C204*|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Nonsense_Mutation_p.C329*	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	329					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|ovary(1)|large_intestine(1)|kidney(1)	5		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)								0.306452	50.202754	52.273357	19	43	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	113699991	113699991	17622	11	A	T	T	T	24	2	USP28	5	3
SIDT2	51092	broad.mit.edu	37	11	117058369	117058369	+	Silent	SNP	T	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:117058369T>A	uc001pqg.2	+	c.1113T>A	c.(1111-1113)GGT>GGA	p.G371G	SIDT2_uc010rxe.1_Silent_p.G371G|SIDT2_uc001pqh.1_Silent_p.G371G|SIDT2_uc001pqi.1_Silent_p.G375G	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2 precursor	371	Cytoplasmic (Potential).					integral to membrane|lysosomal membrane					0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)										0.333333	74.269345	76.337129	28	56	KEEP	---	---	---	---	capture		Silent	SNP	117058369	117058369	14798	11	T	A	A	A	743	58	SIDT2	3	3
OR6X1	390260	broad.mit.edu	37	11	123624331	123624331	+	Missense_Mutation	SNP	A	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123624331A>G	uc010rzy.1	-	c.896T>C	c.(895-897)TTA>TCA	p.L299S		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X,	299	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)										0.342308	293.011033	298.716489	89	171	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123624331	123624331	11623	11	A	G	G	G	169	13	OR6X1	4	4
OR8B4	283162	broad.mit.edu	37	11	124294273	124294273	+	Silent	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124294273C>A	uc010sak.1	-	c.495G>T	c.(493-495)CTG>CTT	p.L165L		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B,	165	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)										0.341463	34.278133	35.217384	14	27	KEEP	---	---	---	---	capture		Silent	SNP	124294273	124294273	11640	11	C	A	A	A	366	29	OR8B4	2	2
CCDC15	80071	broad.mit.edu	37	11	124829042	124829042	+	Missense_Mutation	SNP	A	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124829042A>T	uc001qbm.3	+	c.209A>T	c.(208-210)AAG>ATG	p.K70M		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	70	Potential.									ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)										0.642857	28.477771	28.729236	9	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124829042	124829042	2904	11	A	T	T	T	39	3	CCDC15	3	3
ARHGAP32	9743	broad.mit.edu	37	11	128842434	128842434	+	Missense_Mutation	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:128842434G>A	uc009zcp.2	-	c.3925C>T	c.(3925-3927)CCG>TCG	p.P1309S	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.P268S|ARHGAP32_uc001qez.2_Missense_Mutation_p.P960S	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1309	Poly-Pro.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5														0.350877	105.328426	107.580811	40	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128842434	128842434	893	11	G	A	A	A	533	41	ARHGAP32	2	2
INSC	387755	broad.mit.edu	37	11	15260554	15260554	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:15260554G>T	uc001mly.2	+	c.1468G>T	c.(1468-1470)GCT>TCT	p.A490S	INSC_uc001mlz.2_Missense_Mutation_p.A443S|INSC_uc001mma.2_Missense_Mutation_p.A443S|INSC_uc010rcs.1_Missense_Mutation_p.A478S|INSC_uc001mmb.2_Missense_Mutation_p.A443S|INSC_uc001mmc.2_Missense_Mutation_p.A401S	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN	inscuteable isoform a	490					cell differentiation|nervous system development	cytoplasm	binding			ovary(2)|central_nervous_system(1)	3														0.246154	35.80536	39.595044	16	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15260554	15260554	8065	11	G	T	T	T	442	34	INSC	2	2
HPS5	11234	broad.mit.edu	37	11	18301447	18301447	+	Silent	SNP	G	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:18301447G>C	uc001mod.1	-	c.3372C>G	c.(3370-3372)CTC>CTG	p.L1124L	HPS5_uc001moe.1_Silent_p.L1010L|HPS5_uc001mof.1_Silent_p.L1010L	NM_181507	NP_852608	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5 isoform a	1124						cytosol				ovary(1)|pancreas(1)	2														0.197183	36.608064	42.672106	14	57	KEEP	---	---	---	---	capture		Silent	SNP	18301447	18301447	7634	11	G	C	C	C	418	33	HPS5	3	3
LSP1	4046	broad.mit.edu	37	11	1904695	1904695	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1904695C>A	uc001luj.2	+	c.787C>A	c.(787-789)CTG>ATG	p.L263M	LSP1_uc001lui.2_Missense_Mutation_p.L135M|LSP1_uc001luk.2_Missense_Mutation_p.L73M|LSP1_uc001lul.2_Missense_Mutation_p.L73M|LSP1_uc001lum.2_Missense_Mutation_p.L73M	NM_001013255	NP_001013273	P33241	LSP1_HUMAN	lymphocyte-specific protein 1 isoform 2	135					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity			large_intestine(1)	1		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)						91				0.280488	56.130486	59.659007	23	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1904695	1904695	9439	11	C	A	A	A	311	24	LSP1	2	2
NELL1	4745	broad.mit.edu	37	11	21592424	21592424	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:21592424G>T	uc009yid.2	+	c.2179G>T	c.(2179-2181)GGT>TGT	p.G727C	NELL1_uc001mqe.2_Missense_Mutation_p.G699C|NELL1_uc001mqf.2_Missense_Mutation_p.G652C|NELL1_uc010rdo.1_Missense_Mutation_p.G642C|NELL1_uc010rdp.1_Missense_Mutation_p.G412C|NELL1_uc001mqh.2_Missense_Mutation_p.G244C	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	699	VWFC 4.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3														0.248408	96.544465	105.587079	39	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21592424	21592424	10732	11	G	T	T	T	611	47	NELL1	2	2
TSPAN32	10077	broad.mit.edu	37	11	2337896	2337896	+	Silent	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:2337896C>A	uc001lvy.1	+	c.718C>A	c.(718-720)CGA>AGA	p.R240R	TSPAN32_uc010qxk.1_3'UTR|TSPAN32_uc009ydl.1_Non-coding_Transcript|TSPAN32_uc001lvz.1_Silent_p.R210R|TSPAN32_uc001lwb.1_Missense_Mutation_p.R210S|TSPAN32_uc001lwc.1_Silent_p.R185R|TSPAN32_uc001lwd.1_Silent_p.R172R	NM_139022	NP_620591	Q96QS1	TSN32_HUMAN	tumor-suppressing subtransferable candidate 6	240					cell-cell signaling	integral to membrane		p.R240*(1)		central_nervous_system(1)	1		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)										0.2	20.354778	24.117616	9	36	KEEP	---	---	---	---	capture		Silent	SNP	2337896	2337896	17198	11	C	A	A	A	243	19	TSPAN32	1	1
KCNA4	3739	broad.mit.edu	37	11	30033978	30033978	+	Missense_Mutation	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:30033978C>T	uc001msk.2	-	c.248G>A	c.(247-249)CGG>CAG	p.R83Q		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	83						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.261261	78.825238	84.550047	29	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30033978	30033978	8310	11	C	T	T	T	299	23	KCNA4	1	1
KCNA4	3739	broad.mit.edu	37	11	30034116	30034116	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:30034116C>A	uc001msk.2	-	c.110G>T	c.(109-111)AGG>ATG	p.R37M		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	37						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.193548	23.560371	28.999501	12	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30034116	30034116	8310	11	C	A	A	A	312	24	KCNA4	2	2
MPPED2	744	broad.mit.edu	37	11	30433103	30433103	+	Missense_Mutation	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:30433103G>A	uc001msr.2	-	c.797C>T	c.(796-798)ACG>ATG	p.T266M	MPPED2_uc001msq.3_Intron|MPPED2_uc009yji.2_Missense_Mutation_p.T140M	NM_001584	NP_001575	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	266					nervous system development		hydrolase activity|metal ion binding			skin(1)	1										119				0.216495	47.121609	54.314587	21	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30433103	30433103	10134	11	G	A	A	A	520	40	MPPED2	1	1
MPPED2	744	broad.mit.edu	37	11	30435814	30435814	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:30435814C>A	uc001msr.2	-	c.727G>T	c.(727-729)GTC>TTC	p.V243F	MPPED2_uc001msq.3_Missense_Mutation_p.V243F|MPPED2_uc009yji.2_Missense_Mutation_p.V117F	NM_001584	NP_001575	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	243					nervous system development		hydrolase activity|metal ion binding			skin(1)	1										119				0.183333	23.987503	29.636154	11	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30435814	30435814	10134	11	C	A	A	A	260	20	MPPED2	2	2
OR52B4	143496	broad.mit.edu	37	11	4389468	4389468	+	Missense_Mutation	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4389468G>A	uc010qye.1	-	c.58C>T	c.(58-60)CCT>TCT	p.P20S		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.22	28.097653	31.707574	11	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4389468	4389468	11522	11	G	A	A	A	559	43	OR52B4	2	2
OR51F2	119694	broad.mit.edu	37	11	4842710	4842710	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4842710C>A	uc010qyn.1	+	c.95C>A	c.(94-96)CCA>CAA	p.P32Q		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F,	32	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.304462	305.103714	318.134597	116	265	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4842710	4842710	11507	11	C	A	A	A	273	21	OR51F2	2	2
MMP26	56547	broad.mit.edu	37	11	5011855	5011855	+	Silent	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5011855G>A	uc001lzv.2	+	c.348G>A	c.(346-348)AAG>AAA	p.K116K		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	matrix metalloproteinase 26 preproprotein	116					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)										0.142857	24.757607	37.661502	15	90	KEEP	---	---	---	---	capture		Silent	SNP	5011855	5011855	10054	11	G	A	A	A	438	34	MMP26	2	2
OR4C46	119749	broad.mit.edu	37	11	51515976	51515976	+	Missense_Mutation	SNP	A	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:51515976A>T	uc010ric.1	+	c.695A>T	c.(694-696)CAC>CTC	p.H232L		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	232	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.283333	94.208223	99.262102	34	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51515976	51515976	11458	11	A	T	T	T	78	6	OR4C46	3	3
OR5F1	338674	broad.mit.edu	37	11	55761670	55761670	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55761670C>A	uc010riv.1	-	c.432G>T	c.(430-432)ATG>ATT	p.M144I		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	144	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)													0.333333	63.201584	64.899236	23	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55761670	55761670	11568	11	C	A	A	A	273	21	OR5F1	2	2
OR8J1	219477	broad.mit.edu	37	11	56128508	56128508	+	Silent	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56128508C>A	uc010rjh.1	+	c.786C>A	c.(784-786)CCC>CCA	p.P262P		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J,	262	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)													0.210744	112.342436	131.036844	51	191	KEEP	---	---	---	---	capture		Silent	SNP	56128508	56128508	11652	11	C	A	A	A	275	22	OR8J1	2	2
OR5M8	219484	broad.mit.edu	37	11	56258462	56258462	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56258462G>T	uc001nix.1	-	c.385C>A	c.(385-387)CTG>ATG	p.L129M		NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M,	129	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	Esophageal squamous(21;0.00352)													0.35443	74.371075	75.849208	28	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56258462	56258462	11586	11	G	T	T	T	425	33	OR5M8	2	2
OR5M10	390167	broad.mit.edu	37	11	56344907	56344907	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56344907G>T	uc001niz.1	-	c.291C>A	c.(289-291)TGC>TGA	p.C97*		NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M,	97	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.170455	28.065621	37.10981	15	73	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	56344907	56344907	11583	11	G	T	T	T	438	34	OR5M10	5	2
OR9Q1	219956	broad.mit.edu	37	11	57947485	57947485	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57947485G>T	uc001nmj.2	+	c.569G>T	c.(568-570)GGG>GTG	p.G190V		NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q,	190	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.222)												0.207143	60.654156	71.74136	29	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57947485	57947485	11666	11	G	T	T	T	559	43	OR9Q1	2	2
DTX4	23220	broad.mit.edu	37	11	58949495	58949495	+	Silent	SNP	A	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:58949495A>T	uc001nns.2	+	c.495A>T	c.(493-495)ACA>ACT	p.T165T	DTX4_uc001nnr.2_Silent_p.T59T	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	deltex 4 homolog	165					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)	1		all_epithelial(135;0.125)												0.255102	60.023719	65.360634	25	73	KEEP	---	---	---	---	capture		Silent	SNP	58949495	58949495	4982	11	A	T	T	T	80	7	DTX4	3	3
OR6A2	8590	broad.mit.edu	37	11	6816036	6816036	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6816036C>A	uc001mes.1	-	c.904G>T	c.(904-906)GTC>TTC	p.V302F		NM_003696	NP_003687	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A,	302	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|pancreas(1)	4		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)										0.212963	54.363085	62.587041	23	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6816036	6816036	11596	11	C	A	A	A	234	18	OR6A2	2	2
LRRC32	2615	broad.mit.edu	37	11	76371973	76371973	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:76371973C>A	uc001oxq.3	-	c.664G>T	c.(664-666)GTG>TTG	p.V222L	LRRC32_uc001oxr.3_Missense_Mutation_p.V222L|LRRC32_uc010rsf.1_Missense_Mutation_p.V222L	NM_005512	NP_005503	Q14392	LRC32_HUMAN	leucine rich repeat containing 32 precursor	222	LRR 8.|Extracellular (Potential).					integral to plasma membrane					0														0.275	51.219456	54.865419	22	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76371973	76371973	9362	11	C	A	A	A	234	18	LRRC32	2	2
OVCH2	341277	broad.mit.edu	37	11	7716867	7716867	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7716867C>A	uc010rbf.1	-	c.1216G>T	c.(1216-1218)GAT>TAT	p.D406Y		NM_198185	NP_937828			ovochymase 2 precursor												0				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)										0.307692	31.38694	32.671862	12	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7716867	7716867	11737	11	C	A	A	A	377	29	OVCH2	2	2
PCF11	51585	broad.mit.edu	37	11	82879556	82879556	+	Missense_Mutation	SNP	G	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:82879556G>C	uc001ozx.3	+	c.2179G>C	c.(2179-2181)GAT>CAT	p.D727H	PCF11_uc010rsu.1_Missense_Mutation_p.D858H	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	727	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1														0.355263	86.003423	87.406461	27	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82879556	82879556	11993	11	G	C	C	C	429	33	PCF11	3	3
UBE3B	89910	broad.mit.edu	37	12	109936051	109936051	+	Missense_Mutation	SNP	T	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:109936051T>C	uc001top.2	+	c.833T>C	c.(832-834)TTA>TCA	p.L278S	UBE3B_uc001toq.2_Missense_Mutation_p.L278S|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Missense_Mutation_p.L278S	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	278					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)	2										668				0.293194	175.6349	182.940832	56	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109936051	109936051	17438	12	T	C	C	C	793	61	UBE3B	4	4
NOS1	4842	broad.mit.edu	37	12	117715825	117715825	+	Missense_Mutation	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:117715825C>T	uc001twm.1	-	c.1603G>A	c.(1603-1605)GAC>AAC	p.D535N		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	535					arginine catabolic process|multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|oxidation-reduction process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(2)|pancreas(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	Esophageal Squamous(162;1748 2599 51982 52956)								0.076389	-4.285534	22.186717	11	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117715825	117715825	10944	12	C	T	T	T	377	29	NOS1	2	2
RSRC2	65117	broad.mit.edu	37	12	122990163	122990164	+	Nonsense_Mutation	DNP	GA	AG	AG			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:122990163_122990164GA>AG	uc001ucu.2	-	c.1218_1219TC>CT	c.(1216-1221)GCTCAG>GCCTAG	p.Q407*	RSRC2_uc001uco.2_Nonsense_Mutation_p.Q175*|RSRC2_uc001ucp.2_Nonsense_Mutation_p.Q347*|RSRC2_uc001ucr.2_Nonsense_Mutation_p.Q406*|RSRC2_uc001ucq.2_Nonsense_Mutation_p.Q174*|RSRC2_uc001ucs.2_Nonsense_Mutation_p.Q175*|RSRC2_uc001uct.2_Nonsense_Mutation_p.Q358*	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2 isoform a	406										ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)										0.3	143.056502	149.133186	51	119	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	122990163	122990164	14195	12	GA	AG	AG	AG	585	45	RSRC2	5	2
KNTC1	9735	broad.mit.edu	37	12	123041966	123041966	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:123041966G>T	uc001ucv.2	+	c.1308G>T	c.(1306-1308)GAG>GAT	p.E436D	KNTC1_uc010taf.1_Missense_Mutation_p.E399D	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	436					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)										0.152941	20.614502	30.415971	13	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123041966	123041966	8742	12	G	T	T	T	425	33	KNTC1	2	2
MMP17	4326	broad.mit.edu	37	12	132335487	132335487	+	Missense_Mutation	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:132335487C>T	uc001ujc.1	+	c.1480C>T	c.(1480-1482)CGT>TGT	p.R494C	MMP17_uc001ujd.1_Missense_Mutation_p.R410C	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	matrix metalloproteinase 17 preproprotein	494	Hemopexin-like 4.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)										0.244898	32.576621	35.480474	12	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132335487	132335487	10046	12	C	T	T	T	299	23	MMP17	1	1
PIK3C2G	5288	broad.mit.edu	37	12	18491482	18491482	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:18491482G>T	uc010sib.1	+	c.1395G>T	c.(1393-1395)GAG>GAT	p.E465D	PIK3C2G_uc001rdt.2_Missense_Mutation_p.E465D|PIK3C2G_uc010sia.1_Non-coding_Transcript|PIK3C2G_uc010sic.1_Missense_Mutation_p.E243D	NM_004570	NP_004561	O75747	P3C2G_HUMAN	phosphoinositide-3-kinase, class 2 gamma	465					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(6)|lung(4)|ovary(2)|breast(1)	13		Hepatocellular(102;0.194)								655				0.261745	96.345838	104.009467	39	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18491482	18491482	12335	12	G	T	T	T	451	35	PIK3C2G	2	2
CMAS	55907	broad.mit.edu	37	12	22208545	22208545	+	Splice_Site_SNP	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:22208545G>T	uc001rfm.2	+	c.559_splice	c.e3+1	p.V187_splice	CMAS_uc001rfn.2_Splice_Site_SNP	NM_018686	NP_061156			cytidine monophospho-N-acetylneuraminic acid						lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			ovary(1)|pancreas(1)	2														0.243697	75.01626	82.140155	29	90	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	22208545	22208545	3713	12	G	T	T	T	572	44	CMAS	5	2
OVCH1	341350	broad.mit.edu	37	12	29597135	29597135	+	Missense_Mutation	SNP	A	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:29597135A>T	uc001rix.1	-	c.2960T>A	c.(2959-2961)CTG>CAG	p.L987Q		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	987					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)													0.287879	207.596118	218.245673	76	188	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29597135	29597135	11736	12	A	T	T	T	91	7	OVCH1	3	3
CAPRIN2	65981	broad.mit.edu	37	12	30882156	30882156	+	Missense_Mutation	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:30882156C>T	uc001rji.1	-	c.1208G>A	c.(1207-1209)CGT>CAT	p.R403H	CAPRIN2_uc001rjf.1_Missense_Mutation_p.R200H|CAPRIN2_uc001rjg.1_Missense_Mutation_p.R70H|CAPRIN2_uc001rjh.1_Missense_Mutation_p.R403H|CAPRIN2_uc001rjj.1_Missense_Mutation_p.R70H|CAPRIN2_uc001rjk.3_Missense_Mutation_p.R403H|CAPRIN2_uc001rjl.3_Missense_Mutation_p.R403H|CAPRIN2_uc001rjm.1_Missense_Mutation_p.R70H|CAPRIN2_uc001rjn.1_Missense_Mutation_p.R70H	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	C1q domain containing 1 isoform 1	403					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding	mitochondrion|receptor complex	receptor binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)													0.283019	114.90828	121.632292	45	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30882156	30882156	2755	12	C	T	T	T	247	19	CAPRIN2	1	1
KIF21A	55605	broad.mit.edu	37	12	39761735	39761735	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:39761735C>A	uc001rly.2	-	c.550G>T	c.(550-552)GGA>TGA	p.G184*	KIF21A_uc001rlx.2_Nonsense_Mutation_p.G184*|KIF21A_uc001rlz.2_Nonsense_Mutation_p.G184*|KIF21A_uc010skl.1_Nonsense_Mutation_p.G184*|KIF21A_uc001rma.1_Nonsense_Mutation_p.G184*	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	184	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|lung(1)|pancreas(1)	6		Lung NSC(34;0.179)|all_lung(34;0.213)												0.217021	116.732351	134.062474	51	184	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	39761735	39761735	8599	12	C	A	A	A	312	24	KIF21A	5	2
VDR	7421	broad.mit.edu	37	12	48238559	48238559	+	Silent	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:48238559C>A	uc001rql.2	-	c.1404G>T	c.(1402-1404)GTG>GTT	p.V468V	VDR_uc001rqm.2_Silent_p.V418V|VDR_uc001rqn.2_Silent_p.V418V|VDR_uc010slq.1_Silent_p.V386V	NM_001017535	NP_001017535	P11473	VDR_HUMAN	vitamin D (1,25-dihydroxyvitamin D3) receptor	418	Ligand-binding.				decidualization|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)					190				0.216981	50.781062	58.60293	23	83	KEEP	---	---	---	---	capture		Silent	SNP	48238559	48238559	17716	12	C	A	A	A	314	25	VDR	2	2
WNT1	7471	broad.mit.edu	37	12	49373354	49373354	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49373354C>A	uc001rsu.2	+	c.208C>A	c.(208-210)CGT>AGT	p.R70S		NM_005430	NP_005421	P04628	WNT1_HUMAN	wingless-type MMTV integration site family,	70					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|negative regulation of gene-specific transcription from RNA polymerase II promoter|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of transcription regulator activity|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|promoter binding|transcription activator activity			kidney(1)	1				BRCA - Breast invasive adenocarcinoma(357;0.244)						31				0.268657	92.851412	99.257166	36	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49373354	49373354	17955	12	C	A	A	A	351	27	WNT1	1	1
KCNA1	3736	broad.mit.edu	37	12	5021590	5021590	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:5021590C>A	uc001qnh.2	+	c.1046C>A	c.(1045-1047)GCG>GAG	p.A349E		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	349					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)	1					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)									0.294931	171.411477	179.578503	64	153	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5021590	5021590	8306	12	C	A	A	A	351	27	KCNA1	1	1
KRT75	9119	broad.mit.edu	37	12	52827967	52827967	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52827967G>T	uc001saj.2	-	c.122C>A	c.(121-123)GCA>GAA	p.A41E		NM_004693	NP_004684	O95678	K2C75_HUMAN	keratin 75	41	Gly-rich.|Head.					keratin filament	structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.192)										0.172414	18.5275	24.39793	10	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52827967	52827967	8803	12	G	T	T	T	598	46	KRT75	2	2
KRT3	3850	broad.mit.edu	37	12	53189613	53189613	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53189613C>A	uc001say.2	-	c.214G>T	c.(214-216)GCT>TCT	p.A72S		NM_057088	NP_476429	P12035	K2C3_HUMAN	keratin 3	72	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity				0														0.289655	101.985922	107.740791	42	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53189613	53189613	8781	12	C	A	A	A	364	28	KRT3	2	2
OR6C74	254783	broad.mit.edu	37	12	55641435	55641435	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55641435G>T	uc010spg.1	+	c.364G>T	c.(364-366)GTG>TTG	p.V122L		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C,	122	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1														0.278689	191.493015	202.243481	68	176	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55641435	55641435	11608	12	G	T	T	T	624	48	OR6C74	2	2
MON2	23041	broad.mit.edu	37	12	62929426	62929426	+	Silent	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:62929426C>T	uc001sre.2	+	c.1837C>T	c.(1837-1839)CTG>TTG	p.L613L	MON2_uc009zqj.2_Silent_p.L613L|MON2_uc010ssl.1_Silent_p.L541L|MON2_uc010ssm.1_Intron|MON2_uc010ssn.1_Silent_p.L613L|MON2_uc001srf.2_Silent_p.L376L	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog	613					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)										0.271523	115.006504	122.114814	41	110	KEEP	---	---	---	---	capture		Silent	SNP	62929426	62929426	10091	12	C	T	T	T	311	24	MON2	2	2
IRAK3	11213	broad.mit.edu	37	12	66620547	66620547	+	Missense_Mutation	SNP	A	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:66620547A>T	uc001sth.2	+	c.698A>T	c.(697-699)GAG>GTG	p.E233V	IRAK3_uc010ssy.1_Missense_Mutation_p.E172V	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	233	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of cytokine-mediated signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan|response to virus	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			ovary(2)|lung(1)|central_nervous_system(1)	4				GBM - Glioblastoma multiforme(28;0.0203)						206				0.189474	36.092335	44.663241	18	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66620547	66620547	8127	12	A	T	T	T	143	11	IRAK3	3	3
NOP2	4839	broad.mit.edu	37	12	6671110	6671110	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6671110C>A	uc001qph.1	-	c.994G>T	c.(994-996)GAT>TAT	p.D332Y	NOP2_uc009zeq.1_Missense_Mutation_p.D48Y|NOP2_uc001qpi.1_Missense_Mutation_p.D332Y|NOP2_uc001qpj.1_Intron	NM_001033714	NP_001028886	P46087	NOP2_HUMAN	nucleolar protein 1, 120kDa	336					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			ovary(2)	2														0.173913	6.990997	9.295889	4	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6671110	6671110	10941	12	C	A	A	A	390	30	NOP2	2	2
CHD4	1108	broad.mit.edu	37	12	6709107	6709107	+	Silent	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6709107C>A	uc001qpp.2	-	c.1305G>T	c.(1303-1305)GGG>GGT	p.G435G	CHD4_uc001qpn.2_Silent_p.G431G|CHD4_uc001qpo.2_Silent_p.G438G	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	438					chromatin assembly or disassembly|chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	chromatin|microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|chromatin binding|DNA binding|zinc ion binding			central_nervous_system(2)	2						Colon(32;586 792 4568 16848 45314)								0.253886	233.510363	254.707756	98	288	KEEP	---	---	---	---	capture		Silent	SNP	6709107	6709107	3461	12	C	A	A	A	275	22	CHD4	2	2
PTPRR	5801	broad.mit.edu	37	12	71054802	71054802	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:71054802G>T	uc001swi.1	-	c.1684C>A	c.(1684-1686)CAG>AAG	p.Q562K	PTPRR_uc001swf.1_Non-coding_Transcript|PTPRR_uc001swg.1_Non-coding_Transcript|PTPRR_uc001swh.1_Missense_Mutation_p.Q317K|PTPRR_uc009zrs.2_Missense_Mutation_p.Q411K|PTPRR_uc010stq.1_Missense_Mutation_p.Q450K|PTPRR_uc010str.1_3'UTR	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	562	Tyrosine-protein phosphatase.|Cytoplasmic (Potential).				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(1)|skin(1)	2			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)										0.214286	31.481617	36.764214	15	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71054802	71054802	13268	12	G	T	T	T	611	47	PTPRR	2	2
CD163	9332	broad.mit.edu	37	12	7647772	7647772	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:7647772C>A	uc001qsz.3	-	c.1325G>T	c.(1324-1326)TGT>TTT	p.C442F	CD163_uc001qta.3_Missense_Mutation_p.C442F|CD163_uc009zfw.2_Missense_Mutation_p.C442F	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	442	SRCR 4.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8														0.276995	153.030212	162.565979	59	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7647772	7647772	3094	12	C	A	A	A	221	17	CD163	2	2
BBS10	79738	broad.mit.edu	37	12	76740022	76740022	+	Silent	SNP	C	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:76740022C>G	uc001syd.1	-	c.1743G>C	c.(1741-1743)CCG>CCC	p.P581P		NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	581					cellular protein metabolic process|photoreceptor cell maintenance|response to stimulus|retina homeostasis|sensory cilium assembly	cilium	ATP binding			ovary(1)	1														0.274809	111.045659	117.026812	36	95	KEEP	---	---	---	---	capture		Silent	SNP	76740022	76740022	1357	12	C	G	G	G	392	31	BBS10	3	3
SYT1	6857	broad.mit.edu	37	12	79679716	79679716	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:79679716G>T	uc001sys.2	+	c.316G>T	c.(316-318)GAT>TAT	p.D106Y	SYT1_uc001syt.2_Missense_Mutation_p.D106Y|SYT1_uc001syu.2_Missense_Mutation_p.D106Y|SYT1_uc001syv.2_Missense_Mutation_p.D106Y	NM_001135805	NP_001129277	P21579	SYT1_HUMAN	synaptotagmin I	106	Cytoplasmic (Potential).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			pancreas(2)|skin(2)|ovary(1)	5														0.304348	34.728712	36.302245	14	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79679716	79679716	15986	12	G	T	T	T	429	33	SYT1	2	2
TMTC3	160418	broad.mit.edu	37	12	88589425	88589425	+	Nonstop_Mutation	SNP	A	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:88589425A>T	uc001tau.2	+	c.2744A>T	c.(2743-2745)TAA>TTA	p.*915L		NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat	915						integral to membrane	binding				0														0.301887	39.678066	41.536573	16	37	KEEP	---	---	---	---	capture		Nonstop_Mutation	SNP	88589425	88589425	16803	12	A	T	T	T	167	13	TMTC3	5	3
PZP	5858	broad.mit.edu	37	12	9333633	9333633	+	Silent	SNP	A	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:9333633A>T	uc001qvl.2	-	c.1785T>A	c.(1783-1785)GCT>GCA	p.A595A	PZP_uc009zgl.2_Silent_p.A464A	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|large_intestine(1)	4						Melanoma(125;1402 1695 4685 34487 38571)								0.242857	39.636912	43.860717	17	53	KEEP	---	---	---	---	capture		Silent	SNP	9333633	9333633	13327	12	A	T	T	T	80	7	PZP	3	3
PLXNC1	10154	broad.mit.edu	37	12	94613897	94613897	+	Silent	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:94613897C>A	uc001tdc.2	+	c.1660C>A	c.(1660-1662)CGG>AGG	p.R554R		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	554	Extracellular (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3														0.192825	95.206938	114.843904	43	180	KEEP	---	---	---	---	capture		Silent	SNP	94613897	94613897	12552	12	C	A	A	A	295	23	PLXNC1	1	1
PCCA	5095	broad.mit.edu	37	13	100809550	100809550	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:100809550G>T	uc001voo.2	+	c.424G>T	c.(424-426)GGT>TGT	p.G142C	PCCA_uc010aga.2_Missense_Mutation_p.G116C|PCCA_uc010tiz.1_Missense_Mutation_p.G142C	NM_000282	NP_000273	P05165	PCCA_HUMAN	propionyl-Coenzyme A carboxylase, alpha	142	Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|propionyl-CoA carboxylase activity			skin(2)	2	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)									0.216216	34.755102	40.257263	16	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100809550	100809550	11924	13	G	T	T	T	455	35	PCCA	2	2
NALCN	259232	broad.mit.edu	37	13	101997748	101997748	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:101997748G>T	uc001vox.1	-	c.668C>A	c.(667-669)GCT>GAT	p.A223D	NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.A223D|NALCN_uc001vpa.2_Missense_Mutation_p.A223D	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	223	Extracellular (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)													0.251656	93.191857	101.643475	38	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101997748	101997748	10544	13	G	T	T	T	442	34	NALCN	2	2
ITGBL1	9358	broad.mit.edu	37	13	102367988	102367988	+	Missense_Mutation	SNP	G	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:102367988G>C	uc001vpb.2	+	c.1469G>C	c.(1468-1470)GGC>GCC	p.G490A	ITGBL1_uc010agb.2_Missense_Mutation_p.G441A|ITGBL1_uc001vpc.3_Missense_Mutation_p.G349A	NM_004791	NP_004782	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat	490	X.|Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			ovary(1)	1	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)													0.237838	124.701252	136.326993	44	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102367988	102367988	8206	13	G	C	C	C	546	42	ITGBL1	3	3
COL4A2	1284	broad.mit.edu	37	13	111130348	111130348	+	Splice_Site_SNP	SNP	A	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:111130348A>G	uc001vqx.2	+	c.2426_splice	c.e30-2	p.G809_splice		NM_001846	NP_001837			alpha 2 type IV collagen preproprotein						angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			central_nervous_system(2)|ovary(1)	3	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)											0.271739	66.231645	70.556055	25	67	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	111130348	111130348	3828	13	A	G	G	G	91	7	COL4A2	5	4
RASA3	22821	broad.mit.edu	37	13	114762162	114762162	+	Missense_Mutation	SNP	G	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:114762162G>C	uc001vui.2	-	c.1986C>G	c.(1984-1986)TGC>TGG	p.C662W	RASA3_uc010tkk.1_Missense_Mutation_p.C630W|RASA3_uc001vuj.2_Missense_Mutation_p.C279W	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	662	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(1)|skin(1)	2	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)							4289				0.242424	39.980791	43.965054	16	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114762162	114762162	13522	13	G	C	C	C	490	38	RASA3	3	3
MTUS2	23281	broad.mit.edu	37	13	30066847	30066847	+	Silent	SNP	G	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:30066847G>C	uc001usl.3	+	c.3600G>C	c.(3598-3600)CTG>CTC	p.L1200L	MTUS2_uc001usm.3_Silent_p.L169L|MTUS2_uc010aau.2_Silent_p.L79L	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	1190	Potential.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0										344				0.24	53.311939	57.939077	18	57	KEEP	---	---	---	---	capture		Silent	SNP	30066847	30066847	10359	13	G	C	C	C	613	48	MTUS2	3	3
ITM2B	9445	broad.mit.edu	37	13	48835306	48835306	+	Silent	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:48835306C>T	uc001vbz.3	+	c.747C>T	c.(745-747)TTC>TTT	p.F249F		NM_021999	NP_068839	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	249	Lumenal (Potential).				nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding				0		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)										0.104762	8.952122	25.260289	11	94	KEEP	---	---	---	---	capture		Silent	SNP	48835306	48835306	8217	13	C	T	T	T	402	31	ITM2B	1	1
ASPG	374569	broad.mit.edu	37	14	104552111	104552111	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:104552111G>T	uc001yop.1	+	c.4G>T	c.(4-6)GCG>TCG	p.A2S	ASPG_uc001yoo.1_5'UTR|ASPG_uc001yoq.1_Missense_Mutation_p.A2S|ASPG_uc001yor.1_Missense_Mutation_p.A2S	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	60 kDa lysophospholipase	2					lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity				0														0.5	19.424076	19.424076	7	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104552111	104552111	1071	14	G	T	T	T	546	42	ASPG	2	2
OR11H6	122748	broad.mit.edu	37	14	20692109	20692109	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20692109C>A	uc010tlc.1	+	c.241C>A	c.(241-243)CTG>ATG	p.L81M		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H,	81	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)										0.342105	101.478755	103.995417	39	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20692109	20692109	11335	14	C	A	A	A	415	32	OR11H6	2	2
C14orf93	60686	broad.mit.edu	37	14	23468201	23468201	+	Missense_Mutation	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23468201G>A	uc001wib.1	-	c.32C>T	c.(31-33)CCT>CTT	p.P11L	C14orf93_uc001wic.1_Intron|C14orf93_uc001wid.1_Missense_Mutation_p.P11L|C14orf93_uc001wig.2_Missense_Mutation_p.P11L|C14orf93_uc001wih.2_Missense_Mutation_p.P11L|C14orf93_uc001wie.2_Missense_Mutation_p.P11L|C14orf93_uc001wia.3_Missense_Mutation_p.P11L|C14orf93_uc001wif.2_Intron	NM_021944	NP_068763	Q9H972	CN093_HUMAN	hypothetical protein LOC60686 precursor	11						extracellular region				ovary(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)										0.213675	59.207648	68.070652	25	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23468201	23468201	1832	14	G	A	A	A	455	35	C14orf93	2	2
C14orf93	60686	broad.mit.edu	37	14	23468206	23468206	+	Silent	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23468206G>A	uc001wib.1	-	c.27C>T	c.(25-27)TTC>TTT	p.F9F	C14orf93_uc001wic.1_Intron|C14orf93_uc001wid.1_Silent_p.F9F|C14orf93_uc001wig.2_Silent_p.F9F|C14orf93_uc001wih.2_Silent_p.F9F|C14orf93_uc001wie.2_Silent_p.F9F|C14orf93_uc001wia.3_Silent_p.F9F|C14orf93_uc001wif.2_Intron	NM_021944	NP_068763	Q9H972	CN093_HUMAN	hypothetical protein LOC60686 precursor	9						extracellular region				ovary(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)										0.215517	58.309382	66.975036	25	91	KEEP	---	---	---	---	capture		Silent	SNP	23468206	23468206	1832	14	G	A	A	A	425	33	C14orf93	2	2
LRFN5	145581	broad.mit.edu	37	14	42356354	42356354	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:42356354C>A	uc001wvm.2	+	c.526C>A	c.(526-528)CTT>ATT	p.L176I	LRFN5_uc010ana.2_Missense_Mutation_p.L176I	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	176	Extracellular (Potential).|LRR 6.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)										0.268293	53.002657	56.98542	22	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42356354	42356354	9314	14	C	A	A	A	312	24	LRFN5	2	2
FSCB	84075	broad.mit.edu	37	14	44974151	44974151	+	Silent	SNP	A	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:44974151A>T	uc001wvn.2	-	c.2040T>A	c.(2038-2040)GCT>GCA	p.A680A		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	680	Ala-rich.					cilium				breast(3)|ovary(2)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(112;0.128)					p.APAEVQSLPAEE678del(AML193-Tumor)	151				0.186667	29.301809	36.20603	14	61	KEEP	---	---	---	---	capture		Silent	SNP	44974151	44974151	6316	14	A	T	T	T	80	7	FSCB	3	3
FSCB	84075	broad.mit.edu	37	14	44976031	44976031	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:44976031C>A	uc001wvn.2	-	c.160G>T	c.(160-162)GAG>TAG	p.E54*		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	54						cilium				breast(3)|ovary(2)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(112;0.128)						151				0.251825	162.126648	177.469976	69	205	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	44976031	44976031	6316	14	C	A	A	A	377	29	FSCB	5	2
C14orf106	55320	broad.mit.edu	37	14	45711253	45711253	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:45711253C>A	uc001wwf.2	-	c.1127G>T	c.(1126-1128)GGA>GTA	p.G376V	C14orf106_uc010anh.2_Non-coding_Transcript	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	chromosome 14 open reading frame 106	376					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding				0						Ovarian(187;620 2054 7273 12043 20532)								0.228188	76.266248	86.371205	34	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45711253	45711253	1786	14	C	A	A	A	390	30	C14orf106	2	2
CDKL1	8814	broad.mit.edu	37	14	50801307	50801307	+	Silent	SNP	A	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:50801307A>G	uc001wxz.2	-	c.774T>C	c.(772-774)TCT>TCC	p.S258S	ATP5S_uc010ant.1_Intron	NM_004196	NP_004187	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1	257	Protein kinase.				protein phosphorylation	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			ovary(1)	1	all_epithelial(31;0.000746)|Breast(41;0.0102)									153				0.24911	203.786392	219.897739	70	211	KEEP	---	---	---	---	capture		Silent	SNP	50801307	50801307	3282	14	A	G	G	G	28	3	CDKL1	4	4
RTN1	6252	broad.mit.edu	37	14	60072161	60072161	+	Silent	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:60072161C>A	uc001xen.1	-	c.2037G>T	c.(2035-2037)CTG>CTT	p.L679L	RTN1_uc001xem.1_Silent_p.L259L|RTN1_uc001xek.1_Silent_p.L111L|RTN1_uc001xel.1_Non-coding_Transcript|RTN1_uc010apl.1_Silent_p.L96L	NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	679	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)										0.317073	71.318036	73.759215	26	56	KEEP	---	---	---	---	capture		Silent	SNP	60072161	60072161	14205	14	C	A	A	A	314	25	RTN1	2	2
GPHN	10243	broad.mit.edu	37	14	67579829	67579829	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:67579829G>T	uc010tss.1	+	c.1606G>T	c.(1606-1608)GTC>TTC	p.V536F	GPHN_uc001xix.2_Missense_Mutation_p.V523F|GPHN_uc001xiy.2_Missense_Mutation_p.V490F|GPHN_uc010tst.1_Missense_Mutation_p.V459F|GPHN_uc010tsu.1_Missense_Mutation_p.V413F	NM_020806	NP_001019389	Q9NQX3	GEPH_HUMAN	gephyrin isoform 1	490	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			ovary(2)	2		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)						590				0.207692	62.248282	72.54192	27	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67579829	67579829	6884	14	G	T	T	T	624	48	GPHN	2	2
PCNX	22990	broad.mit.edu	37	14	71413833	71413833	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:71413833G>T	uc001xmo.2	+	c.355G>T	c.(355-357)GGA>TGA	p.G119*	PCNX_uc001xmn.3_Nonsense_Mutation_p.G119*|PCNX_uc010are.1_Nonsense_Mutation_p.G119*	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	119						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)										0.318182	19.216501	19.863334	7	15	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	71413833	71413833	12011	14	G	T	T	T	611	47	PCNX	5	2
SIPA1L1	26037	broad.mit.edu	37	14	72165754	72165754	+	Missense_Mutation	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:72165754C>T	uc001xms.2	+	c.3431C>T	c.(3430-3432)TCC>TTC	p.S1144F	SIPA1L1_uc001xmt.2_Missense_Mutation_p.S1144F|SIPA1L1_uc001xmu.2_Missense_Mutation_p.S1144F|SIPA1L1_uc001xmv.2_Missense_Mutation_p.S1144F|SIPA1L1_uc010ttm.1_Missense_Mutation_p.S619F	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1144					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)										0.213836	76.157037	88.188104	34	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72165754	72165754	14824	14	C	T	T	T	390	30	SIPA1L1	2	2
SERPINA9	327657	broad.mit.edu	37	14	94931156	94931156	+	Missense_Mutation	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94931156G>A	uc001ydf.2	-	c.992C>T	c.(991-993)TCT>TTT	p.S331F	SERPINA9_uc001yde.2_Missense_Mutation_p.S231F|SERPINA9_uc010avc.2_Missense_Mutation_p.S182F|SERPINA9_uc001ydg.2_Missense_Mutation_p.S295F|SERPINA9_uc001ydh.1_Missense_Mutation_p.S331F|SERPINA9_uc001ydi.1_Missense_Mutation_p.S295F	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	serine (or cysteine) proteinase inhibitor, clade	313					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			lung(1)|central_nervous_system(1)	2		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)										0.271028	76.624839	81.68583	29	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94931156	94931156	14583	14	G	A	A	A	429	33	SERPINA9	2	2
C15orf2	23742	broad.mit.edu	37	15	24921921	24921921	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:24921921C>A	uc001ywo.2	+	c.907C>A	c.(907-909)CCT>ACT	p.P303T		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	303	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|kidney(1)|central_nervous_system(1)	6		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)						443				0.226804	44.485133	51.151708	22	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24921921	24921921	1834	15	C	A	A	A	338	26	C15orf2	2	2
GABRA5	2558	broad.mit.edu	37	15	27185175	27185175	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:27185175G>T	uc001zbd.1	+	c.828G>T	c.(826-828)CAG>CAT	p.Q276H	GABRB3_uc001zbb.2_5'Flank	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid A receptor, alpha 5	276	Helical; (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)									0.136364	8.718092	14.353705	6	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27185175	27185175	6415	15	G	T	T	T	451	35	GABRA5	2	2
OCA2	4948	broad.mit.edu	37	15	28230275	28230275	+	Silent	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:28230275C>A	uc001zbh.3	-	c.1299G>T	c.(1297-1299)GCG>GCT	p.A433A	OCA2_uc010ayv.2_Silent_p.A409A	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	433	Helical; (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)										0.278689	44.349637	47.036785	17	44	KEEP	---	---	---	---	capture		Silent	SNP	28230275	28230275	11220	15	C	A	A	A	288	23	OCA2	1	1
C15orf55	256646	broad.mit.edu	37	15	34640257	34640257	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:34640257C>A	uc010ucc.1	+	c.188C>A	c.(187-189)TCT>TAT	p.S63Y	C15orf55_uc010ucd.1_Missense_Mutation_p.S53Y|C15orf55_uc001zif.2_Missense_Mutation_p.S35Y	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	35	Pro-rich.					cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)						408				0.264901	91.225206	98.776065	40	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34640257	34640257	1853	15	C	A	A	A	416	32	C15orf55	2	2
GATM	2628	broad.mit.edu	37	15	45654417	45654417	+	Missense_Mutation	SNP	T	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:45654417T>C	uc001zvc.2	-	c.1162A>G	c.(1162-1164)ATC>GTC	p.I388V	GATM_uc001zvb.2_Missense_Mutation_p.I259V	NM_001482	NP_001473	P50440	GATM_HUMAN	L-arginine:glycine amidinotransferase precursor	388					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding				0		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)									0.224138	35.751276	39.802655	13	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45654417	45654417	6527	15	T	C	C	C	637	49	GATM	4	4
TCF12	6938	broad.mit.edu	37	15	57212142	57212142	+	Missense_Mutation	SNP	A	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:57212142A>T	uc002aea.2	+	c.31A>T	c.(31-33)ATA>TTA	p.I11L	ZNF280D_uc002adw.1_5'Flank|TCF12_uc010ugm.1_Missense_Mutation_p.I63L|TCF12_uc010ugn.1_Missense_Mutation_p.I11L|TCF12_uc010bfs.2_5'UTR|TCF12_uc002aeb.2_Missense_Mutation_p.I11L|TCF12_uc002aec.2_Missense_Mutation_p.I11L|TCF12_uc002aed.2_Missense_Mutation_p.I11L|LOC145783_uc002adz.1_5'Flank	NM_207036	NP_996919	Q99081	HTF4_HUMAN	transcription factor 12 isoform a	11					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(2)|lung(1)	8		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)						335				0.179775	32.182875	40.739262	16	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57212142	57212142	16213	15	A	T	T	T	208	16	TCF12	3	3
AQP9	366	broad.mit.edu	37	15	58465266	58465266	+	Splice_Site_SNP	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:58465266G>T	uc002aez.2	+	c.239_splice	c.e3-1	p.G80_splice	ALDH1A2_uc010ugw.1_Intron|AQP9_uc010ugx.1_Splice_Site_SNP_p.G15_splice	NM_020980	NP_066190			aquaporin 9						cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			ovary(1)	1				GBM - Glioblastoma multiforme(80;0.16)										0.261484	180.298377	194.885626	74	209	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	58465266	58465266	844	15	G	T	T	T	455	35	AQP9	5	2
HERC1	8925	broad.mit.edu	37	15	64067496	64067496	+	Silent	SNP	T	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:64067496T>A	uc002amp.2	-	c.327A>T	c.(325-327)GTA>GTT	p.V109V	HERC1_uc010uil.1_Silent_p.V109V|HERC1_uc010bgt.1_Silent_p.V109V|HERC1_uc002amq.1_Silent_p.V109V	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	109					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(5)|central_nervous_system(2)|lung(1)|breast(1)	9														0.264706	67.885029	72.985677	27	75	KEEP	---	---	---	---	capture		Silent	SNP	64067496	64067496	7340	15	T	A	A	A	730	57	HERC1	3	3
LRRC49	54839	broad.mit.edu	37	15	71305143	71305143	+	Missense_Mutation	SNP	G	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:71305143G>C	uc010ukf.1	+	c.1609G>C	c.(1609-1611)GTG>CTG	p.V537L	LRRC49_uc002asu.2_Missense_Mutation_p.V522L|LRRC49_uc002asw.2_Missense_Mutation_p.V532L|LRRC49_uc002asx.2_Missense_Mutation_p.V488L|LRRC49_uc002asy.2_Missense_Mutation_p.V238L|LRRC49_uc002asz.2_Missense_Mutation_p.V504L	NM_017691	NP_060161	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	532						cytoplasm|microtubule				ovary(1)	1														0.267123	119.881856	127.017388	39	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71305143	71305143	9381	15	G	C	C	C	572	44	LRRC49	3	3
SEMA7A	8482	broad.mit.edu	37	15	74707191	74707191	+	Silent	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:74707191C>T	uc002axv.2	-	c.1083G>A	c.(1081-1083)CCG>CCA	p.P361P	SEMA7A_uc010ulk.1_Silent_p.P196P|SEMA7A_uc010ull.1_Silent_p.P347P	NM_003612	NP_003603	O75326	SEM7A_HUMAN	semaphorin 7A isoform 1 preproprotein	361	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(1)|central_nervous_system(1)	2														0.075	-2.614063	12.216669	6	74	KEEP	---	---	---	---	capture		Silent	SNP	74707191	74707191	14529	15	C	T	T	T	340	27	SEMA7A	1	1
C15orf26	161502	broad.mit.edu	37	15	81436103	81436103	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:81436103G>T	uc002bgb.2	+	c.578G>T	c.(577-579)TGG>TTG	p.W193L	C15orf26_uc010blp.1_Missense_Mutation_p.W168L	NM_173528	NP_775799	Q6P656	CO026_HUMAN	hypothetical protein LOC161502	193											0														0.245902	145.375699	159.724397	60	184	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81436103	81436103	1837	15	G	T	T	T	611	47	C15orf26	2	2
NTRK3	4916	broad.mit.edu	37	15	88472600	88472600	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:88472600C>A	uc002bme.1	-	c.1955G>T	c.(1954-1956)GGG>GTG	p.G652V	NTRK3_uc002bmh.2_Missense_Mutation_p.G644V|NTRK3_uc002bmf.1_Missense_Mutation_p.G652V|NTRK3_uc010upl.1_Missense_Mutation_p.G554V|NTRK3_uc010bnh.1_Missense_Mutation_p.G644V	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	652	Cytoplasmic (Potential).|Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(13)|ovary(5)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|skin(1)|pancreas(1)	259			BRCA - Breast invasive adenocarcinoma(143;0.211)							506	TSP Lung(13;0.10)			0.452381	52.922669	53.004872	19	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88472600	88472600	11113	15	C	A	A	A	286	22	NTRK3	2	2
CACNA1H	8912	broad.mit.edu	37	16	1262039	1262039	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1262039G>T	uc002cks.2	+	c.4660G>T	c.(4660-4662)GTG>TTG	p.V1554L	CACNA1H_uc002ckt.2_Missense_Mutation_p.V1554L|CACNA1H_uc002cku.2_Missense_Mutation_p.V260L|CACNA1H_uc010brj.2_Missense_Mutation_p.V260L|CACNA1H_uc002ckv.2_Missense_Mutation_p.V260L	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	1554	Helical; Name=S6 of repeat III; (Potential).|III.				axon guidance|muscle contraction|muscle organ development|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)									0.191011	70.033504	85.943658	34	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1262039	1262039	2661	16	G	T	T	T	520	40	CACNA1H	1	1
CPPED1	55313	broad.mit.edu	37	16	12758931	12758931	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:12758931C>A	uc002dca.3	-	c.757G>T	c.(757-759)GGG>TGG	p.G253W	CPPED1_uc002dcb.3_Missense_Mutation_p.G111W|CPPED1_uc002dbz.3_Non-coding_Transcript	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain	253							hydrolase activity|metal ion binding				0														0.518868	179.827164	179.860023	55	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12758931	12758931	3960	16	C	A	A	A	299	23	CPPED1	1	1
BAIAP3	8938	broad.mit.edu	37	16	1396022	1396022	+	Silent	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1396022G>T	uc002clk.1	+	c.2349G>T	c.(2347-2349)CTG>CTT	p.L783L	BAIAP3_uc002clj.2_Silent_p.L765L|BAIAP3_uc010uuz.1_Silent_p.L748L|BAIAP3_uc010uva.1_Silent_p.L720L|BAIAP3_uc010uvc.1_Silent_p.L712L	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	783	MHD1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)												0.178571	8.955931	11.681421	5	23	KEEP	---	---	---	---	capture		Silent	SNP	1396022	1396022	1325	16	G	T	T	T	587	46	BAIAP3	2	2
XYLT1	64131	broad.mit.edu	37	16	17228386	17228386	+	Silent	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:17228386G>A	uc002dfa.2	-	c.1971C>T	c.(1969-1971)CGC>CGT	p.R657R		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	657	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4														0.074074	-5.428363	19.708945	10	125	KEEP	---	---	---	---	capture		Silent	SNP	17228386	17228386	18046	16	G	A	A	A	535	42	XYLT1	2	2
RPL3L	6123	broad.mit.edu	37	16	2002992	2002992	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2002992G>T	uc002cnh.2	-	c.248C>A	c.(247-249)CCC>CAC	p.P83H		NM_005061	NP_005052	Q92901	RL3L_HUMAN	ribosomal protein L3-like	83					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome				0														0.177966	37.845594	49.338909	21	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2002992	2002992	14073	16	G	T	T	T	559	43	RPL3L	2	2
THUMPD1	55623	broad.mit.edu	37	16	20748250	20748250	+	Silent	SNP	T	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20748250T>A	uc002dho.2	-	c.1014A>T	c.(1012-1014)GCA>GCT	p.A338A	THUMPD1_uc010vaz.1_Silent_p.A191A|THUMPD1_uc002dhp.2_Silent_p.A338A	NM_017736	NP_060206	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	338											0														0.222222	38.863216	43.973101	16	56	KEEP	---	---	---	---	capture		Silent	SNP	20748250	20748250	16410	16	T	A	A	A	808	63	THUMPD1	3	3
EEF2K	29904	broad.mit.edu	37	16	22268069	22268069	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:22268069G>T	uc002dki.2	+	c.619G>T	c.(619-621)GTG>TTG	p.V207L	EEF2K_uc002dkh.2_Non-coding_Transcript	NM_013302	NP_037434	O00418	EF2K_HUMAN	elongation factor-2 kinase	207	Alpha-type protein kinase.				insulin receptor signaling pathway|protein phosphorylation|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(48;0.0223)		NSCLC(195;1411 2157 20319 27471 51856)				274				0.186441	21.790515	27.226123	11	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22268069	22268069	5117	16	G	T	T	T	572	44	EEF2K	2	2
USP31	57478	broad.mit.edu	37	16	23093759	23093759	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:23093759C>A	uc002dll.2	-	c.1950G>T	c.(1948-1950)CAG>CAT	p.Q650H	USP31_uc010bxm.2_De_novo_Start_InFrame	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	650					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(2)|lung(1)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0187)										0.25	54.404302	59.406372	22	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23093759	23093759	17626	16	C	A	A	A	311	24	USP31	2	2
IL4R	3566	broad.mit.edu	37	16	27374034	27374034	+	Missense_Mutation	SNP	A	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:27374034A>T	uc002don.2	+	c.1361A>T	c.(1360-1362)AAG>ATG	p.K454M	IL4R_uc002dop.3_Missense_Mutation_p.K439M|IL4R_uc010bxy.2_Missense_Mutation_p.K454M|IL4R_uc002doo.2_Missense_Mutation_p.K294M	NM_000418	NP_000409	P24394	IL4RA_HUMAN	interleukin 4 receptor alpha chain isoform a	454	Cytoplasmic (Potential).|Required for IRS1 activation and IL4- induced cell growth.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			ovary(1)|skin(1)	2														0.372263	137.290834	139.253391	51	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27374034	27374034	7999	16	A	T	T	T	39	3	IL4R	3	3
SRRM2	23524	broad.mit.edu	37	16	2818263	2818263	+	Splice_Site_SNP	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2818263G>T	uc002crk.2	+	c.7733_splice	c.e11+1	p.R2578_splice		NM_016333	NP_057417			splicing coactivator subunit SRm300						nuclear mRNA splicing, via spliceosome	Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.481481	118.206586	118.23113	39	42	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	2818263	2818263	15683	16	G	T	T	T	572	44	SRRM2	5	2
LONP2	83752	broad.mit.edu	37	16	48303939	48303939	+	Missense_Mutation	SNP	T	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:48303939T>A	uc002efi.1	+	c.995T>A	c.(994-996)ATT>AAT	p.I332N	LONP2_uc010vgm.1_Non-coding_Transcript|LONP2_uc002efj.1_Missense_Mutation_p.I288N	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	peroxisomal LON protease-like	332					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity				0														0.093923	7.81953	37.905345	17	164	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48303939	48303939	9265	16	T	A	A	A	676	52	LONP2	3	3
LONP2	83752	broad.mit.edu	37	16	48303941	48303941	+	Missense_Mutation	SNP	A	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:48303941A>T	uc002efi.1	+	c.997A>T	c.(997-999)AGG>TGG	p.R333W	LONP2_uc010vgm.1_Non-coding_Transcript|LONP2_uc002efj.1_Missense_Mutation_p.R289W	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	peroxisomal LON protease-like	333					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity				0														0.094444	8.04142	37.779871	17	163	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48303941	48303941	9265	16	A	T	T	T	192	15	LONP2	3	3
ESRP2	80004	broad.mit.edu	37	16	68265245	68265245	+	Missense_Mutation	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:68265245G>A	uc010cfa.1	-	c.1577C>T	c.(1576-1578)ACA>ATA	p.T526I	ESRP2_uc002evp.1_Non-coding_Transcript|ESRP2_uc002evq.1_Missense_Mutation_p.T516I	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	RNA binding motif protein 35B	526	RRM 3.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			ovary(1)	1														0.480769	72.469339	72.486198	25	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68265245	68265245	5452	16	G	A	A	A	624	48	ESRP2	2	2
FTSJD1	55783	broad.mit.edu	37	16	71318653	71318653	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:71318653C>A	uc010cga.2	-	c.1171G>T	c.(1171-1173)GAA>TAA	p.E391*	FTSJD1_uc002ezy.3_Nonsense_Mutation_p.E391*|FTSJD1_uc002ezz.3_Nonsense_Mutation_p.E391*	NM_001099642	NP_001093112	Q8IYT2	FTSJ1_HUMAN	FtsJ methyltransferase domain containing 1	391						integral to membrane	methyltransferase activity|nucleic acid binding				0														0.370968	62.906031	63.814095	23	39	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	71318653	71318653	6341	16	C	A	A	A	416	32	FTSJD1	5	2
ZNF23	7571	broad.mit.edu	37	16	71482343	71482343	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:71482343C>A	uc002fai.2	-	c.1702G>T	c.(1702-1704)GAG>TAG	p.E568*	ZNF23_uc002fad.2_Nonsense_Mutation_p.E471*|ZNF23_uc002fae.2_Nonsense_Mutation_p.E471*|ZNF23_uc002faf.2_Nonsense_Mutation_p.E529*|ZNF23_uc010vmf.1_Nonsense_Mutation_p.E471*|ZNF23_uc002fag.2_Nonsense_Mutation_p.E471*|ZNF23_uc002fah.2_Nonsense_Mutation_p.E529*	NM_145911	NP_666016	P17027	ZNF23_HUMAN	zinc finger protein 23	529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)										0.428571	103.890541	104.298931	39	52	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	71482343	71482343	18374	16	C	A	A	A	390	30	ZNF23	5	2
CHST4	10164	broad.mit.edu	37	16	71571552	71571552	+	Silent	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:71571552C>A	uc002fan.2	+	c.972C>A	c.(970-972)GCC>GCA	p.A324A	CHST4_uc002fao.2_Silent_p.A324A	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	324	Lumenal (Potential).				cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity				0												OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.413793	70.491846	70.867486	24	34	KEEP	---	---	---	---	capture		Silent	SNP	71571552	71571552	3540	16	C	A	A	A	262	21	CHST4	2	2
MBTPS1	8720	broad.mit.edu	37	16	84103628	84103628	+	Missense_Mutation	SNP	C	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:84103628C>G	uc002fhi.2	-	c.1798G>C	c.(1798-1800)GAA>CAA	p.E600Q	MBTPS1_uc002fhh.2_Missense_Mutation_p.E104Q	NM_003791	NP_003782	Q14703	MBTP1_HUMAN	membrane-bound transcription factor site-1	600	Lumenal (Potential).				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(2)	2														0.357576	191.180054	194.127696	59	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84103628	84103628	9750	16	C	G	G	G	416	32	MBTPS1	3	3
MYH1	4619	broad.mit.edu	37	17	10397739	10397739	+	Missense_Mutation	SNP	T	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10397739T>A	uc002gmo.2	-	c.5599A>T	c.(5599-5601)AGG>TGG	p.R1867W		NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1867	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|breast(3)|kidney(1)|skin(1)	15										585				0.15528	49.668951	67.943833	25	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10397739	10397739	10424	17	T	A	A	A	713	55	MYH1	3	3
WDR81	124997	broad.mit.edu	37	17	1640949	1640949	+	Silent	SNP	A	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:1640949A>T	uc002ftj.2	+	c.5796A>T	c.(5794-5796)TCA>TCT	p.S1932S	WDR81_uc002fth.2_Silent_p.S881S|WDR81_uc010vqp.1_Silent_p.S729S|WDR81_uc002fti.2_Silent_p.S705S|WDR81_uc010vqq.1_Silent_p.S563S	NM_001163809	NP_001157281	Q24JR4	Q24JR4_HUMAN	WD repeat domain 81 isoform 1	571											0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)										0.4	42.244131	42.549851	14	21	KEEP	---	---	---	---	capture		Silent	SNP	1640949	1640949	17903	17	A	T	T	T	80	7	WDR81	3	3
MYO15A	51168	broad.mit.edu	37	17	18023924	18023924	+	Missense_Mutation	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:18023924G>A	uc010vxh.1	+	c.1810G>A	c.(1810-1812)GAG>AAG	p.E604K		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	604	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)|skin(1)	6	all_neural(463;0.228)													0.272727	7.41975	7.932168	3	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18023924	18023924	10458	17	G	A	A	A	533	41	MYO15A	2	2
GIT1	28964	broad.mit.edu	37	17	27910597	27910597	+	Silent	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:27910597C>A	uc002heg.2	-	c.90G>T	c.(88-90)GTG>GTT	p.V30V	GIT1_uc002hef.2_Silent_p.V30V|GIT1_uc010wbg.1_Silent_p.V30V|GIT1_uc010csb.1_Silent_p.V30V	NM_001085454	NP_001078923	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interactor 1	30	Arf-GAP.|C4-type.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding				0				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		Colon(81;41 1719 20078 35068)								0.25	12.830083	14.201649	6	18	KEEP	---	---	---	---	capture		Silent	SNP	27910597	27910597	6664	17	C	A	A	A	210	17	GIT1	2	2
CCT6B	10693	broad.mit.edu	37	17	33266313	33266313	+	Missense_Mutation	SNP	T	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:33266313T>A	uc002hig.2	-	c.1102A>T	c.(1102-1104)AAC>TAC	p.N368Y	CCT6B_uc010ctg.2_Missense_Mutation_p.N331Y|CCT6B_uc010wcc.1_Missense_Mutation_p.N323Y	NM_006584	NP_006575	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B	368					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			pancreas(1)	1		Ovarian(249;0.17)												0.295858	129.484996	135.785495	50	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33266313	33266313	3085	17	T	A	A	A	793	61	CCT6B	3	3
SLFN11	91607	broad.mit.edu	37	17	33687261	33687261	+	Splice_Site_SNP	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:33687261C>A	uc010ctp.2	-	c.1198_splice	c.e5+1	p.V400_splice	SLFN11_uc010ctq.2_Splice_Site_SNP_p.V400_splice|SLFN11_uc002hjh.3_Splice_Site_SNP_p.V400_splice|SLFN11_uc002hjg.3_Splice_Site_SNP_p.V400_splice|SLFN11_uc010ctr.2_Splice_Site_SNP_p.V400_splice	NM_001104588	NP_001098058			schlafen family member 11							nucleus	ATP binding			large_intestine(1)|ovary(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)										0.2	47.922813	57.104502	22	88	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	33687261	33687261	15230	17	C	A	A	A	234	18	SLFN11	5	2
HDAC5	10014	broad.mit.edu	37	17	42168703	42168703	+	Missense_Mutation	SNP	T	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:42168703T>A	uc002iff.1	-	c.1325A>T	c.(1324-1326)CAT>CTT	p.H442L	HDAC5_uc002ifd.1_Missense_Mutation_p.H441L|HDAC5_uc002ife.1_Missense_Mutation_p.H441L|HDAC5_uc010czp.1_Missense_Mutation_p.H441L|HDAC5_uc002ifh.2_Missense_Mutation_p.H441L	NM_001015053	NP_001015053	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5 isoform 3	441					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of myotube differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding|specific transcriptional repressor activity			ovary(1)	1		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)										0.25	27.309933	29.805854	11	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42168703	42168703	7293	17	T	A	A	A	663	51	HDAC5	3	3
FMNL1	752	broad.mit.edu	37	17	43320574	43320574	+	Silent	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:43320574C>A	uc002iin.2	+	c.2100C>A	c.(2098-2100)GCC>GCA	p.A700A	FMNL1_uc002iiq.2_Silent_p.A278A|FMNL1_uc010dag.2_Non-coding_Transcript	NM_005892	NP_005883	O95466	FMNL_HUMAN	formin-like 1	700	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			pancreas(1)	1						GBM(164;1247 1997 8702 11086 51972)								0.258065	96.076801	104.269859	40	115	KEEP	---	---	---	---	capture		Silent	SNP	43320574	43320574	6193	17	C	A	A	A	275	22	FMNL1	2	2
SKAP1	8631	broad.mit.edu	37	17	46247980	46247980	+	Nonsense_Mutation	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:46247980G>A	uc002ini.1	-	c.868C>T	c.(868-870)CGA>TGA	p.R290*	SKAP1_uc002inj.1_Nonsense_Mutation_p.R290*|SKAP1_uc010dbd.1_Nonsense_Mutation_p.R196*|SKAP1_uc010dbe.1_Nonsense_Mutation_p.R290*	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1 isoform	290	Interaction with FYB.				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding|SH3/SH2 adaptor activity|transcription activator activity				0														0.249012	157.102769	171.59649	63	190	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	46247980	46247980	14850	17	G	A	A	A	519	40	SKAP1	5	1
CA10	56934	broad.mit.edu	37	17	49710885	49710885	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:49710885G>T	uc002itv.3	-	c.934C>A	c.(934-936)CAG>AAG	p.Q312K	CA10_uc002itu.3_Missense_Mutation_p.Q235K|CA10_uc002itw.3_Missense_Mutation_p.Q306K|CA10_uc002itx.3_Missense_Mutation_p.Q306K|CA10_uc002ity.3_Missense_Mutation_p.Q306K|CA10_uc002itz.2_Missense_Mutation_p.Q306K	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	306					brain development					ovary(1)	1			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)											0.226804	51.867032	58.550313	22	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49710885	49710885	2627	17	G	T	T	T	624	48	CA10	2	2
CA10	56934	broad.mit.edu	37	17	49731069	49731069	+	Missense_Mutation	SNP	A	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:49731069A>T	uc002itv.3	-	c.512T>A	c.(511-513)CTA>CAA	p.L171Q	CA10_uc002itu.3_Missense_Mutation_p.L94Q|CA10_uc002itw.3_Missense_Mutation_p.L165Q|CA10_uc002itx.3_Missense_Mutation_p.L165Q|CA10_uc002ity.3_Missense_Mutation_p.L165Q|CA10_uc002itz.2_Missense_Mutation_p.L165Q	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	165					brain development					ovary(1)	1			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)											0.222222	41.805211	47.556928	18	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49731069	49731069	2627	17	A	T	T	T	195	15	CA10	3	3
AKAP1	8165	broad.mit.edu	37	17	55193622	55193622	+	Missense_Mutation	SNP	G	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:55193622G>C	uc002iux.2	+	c.2432G>C	c.(2431-2433)AGG>ACG	p.R811T	AKAP1_uc010wnl.1_Missense_Mutation_p.R811T|AKAP1_uc010dcm.2_Missense_Mutation_p.R811T	NM_003488	NP_003479	Q92667	AKAP1_HUMAN	A-kinase anchor protein 1 precursor	811	Tudor.				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			ovary(1)	1	Breast(9;5.46e-08)													0.233083	69.134827	77.833972	31	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55193622	55193622	448	17	G	C	C	C	455	35	AKAP1	3	3
MKS1	54903	broad.mit.edu	37	17	56294052	56294052	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56294052C>A	uc002ivr.1	-	c.236G>T	c.(235-237)GGG>GTG	p.G79V	MKS1_uc010wnq.1_5'UTR|MKS1_uc002ivs.1_Missense_Mutation_p.G79V	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Meckel syndrome type 1 protein isoform 1	79					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			ovary(1)	1														0.184211	28.212552	35.317123	14	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56294052	56294052	9999	17	C	A	A	A	286	22	MKS1	2	2
ABCA10	10349	broad.mit.edu	37	17	67186584	67186584	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:67186584C>A	uc010dfa.1	-	c.2046G>T	c.(2044-2046)CAG>CAT	p.Q682H	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_Missense_Mutation_p.Q283H	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	682					transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)	3	Breast(10;6.95e-12)													0.2	37.234644	44.343903	17	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67186584	67186584	30	17	C	A	A	A	311	24	ABCA10	2	2
SDK2	54549	broad.mit.edu	37	17	71397871	71397871	+	Silent	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:71397871G>A	uc010dfm.2	-	c.2701C>T	c.(2701-2703)CTG>TTG	p.L901L	SDK2_uc002jjt.3_Silent_p.L60L|SDK2_uc010dfn.2_Silent_p.L580L	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	901	Fibronectin type-III 4.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(2)	2														0.230769	7.917958	8.781604	3	10	KEEP	---	---	---	---	capture		Silent	SNP	71397871	71397871	14455	17	G	A	A	A	451	35	SDK2	2	2
UNK	85451	broad.mit.edu	37	17	73780812	73780812	+	Missense_Mutation	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:73780812G>A	uc002jpm.2	+	c.79G>A	c.(79-81)GAC>AAC	p.D27N	UNK_uc002jpn.2_Non-coding_Transcript|UNK_uc002jpo.2_Non-coding_Transcript	NM_001080419	NP_001073888			zinc finger CCCH-type domain containing 5												0			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)											0.191489	18.454549	22.629364	9	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73780812	73780812	17559	17	G	A	A	A	533	41	UNK	2	2
UNK	85451	broad.mit.edu	37	17	73780814	73780814	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:73780814C>A	uc002jpm.2	+	c.81C>A	c.(79-81)GAC>GAA	p.D27E	UNK_uc002jpn.2_Non-coding_Transcript|UNK_uc002jpo.2_Non-coding_Transcript	NM_001080419	NP_001073888			zinc finger CCCH-type domain containing 5												0			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)											0.183673	18.743636	23.347029	9	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73780814	73780814	17559	17	C	A	A	A	220	17	UNK	2	2
UBE2O	63893	broad.mit.edu	37	17	74395027	74395027	+	Missense_Mutation	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:74395027C>T	uc002jrm.3	-	c.1674G>A	c.(1672-1674)ATG>ATA	p.M558I	UBE2O_uc002jrn.3_Missense_Mutation_p.M558I|UBE2O_uc002jrl.3_Missense_Mutation_p.M161I	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	558					post-translational protein modification		ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5										583				0.241935	32.089133	35.860055	15	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74395027	74395027	17425	17	C	T	T	T	221	17	UBE2O	2	2
SMCHD1	23347	broad.mit.edu	37	18	2698038	2698038	+	Silent	SNP	A	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:2698038A>T	uc002klm.3	+	c.1341A>T	c.(1339-1341)TCA>TCT	p.S447S	SMCHD1_uc002klk.3_5'Flank	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	447					chromosome organization		ATP binding				0														0.214286	18.550923	21.718503	9	33	KEEP	---	---	---	---	capture		Silent	SNP	2698038	2698038	15286	18	A	T	T	T	54	5	SMCHD1	3	3
FAM59A	64762	broad.mit.edu	37	18	29867330	29867330	+	Silent	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:29867330C>A	uc002kxl.2	-	c.1230G>T	c.(1228-1230)GGG>GGT	p.G410G	FAM59A_uc002kxk.1_Silent_p.G410G	NM_022751	NP_073588	Q9H706	FA59A_HUMAN	family with sequence similarity 59, member A	410										ovary(1)	1														0.216783	65.858419	76.431979	31	112	KEEP	---	---	---	---	capture		Silent	SNP	29867330	29867330	5814	18	C	A	A	A	275	22	FAM59A	2	2
SLC14A2	8170	broad.mit.edu	37	18	43217060	43217060	+	Silent	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:43217060C>T	uc010dnj.2	+	c.756C>T	c.(754-756)GGC>GGT	p.G252G	SLC14A2_uc002lbb.2_Silent_p.G252G|SLC14A2_uc002lbe.2_Silent_p.G252G	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	252	Helical; (Potential).					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2														0.314961	102.131623	106.01429	40	87	KEEP	---	---	---	---	capture		Silent	SNP	43217060	43217060	14892	18	C	T	T	T	327	26	SLC14A2	2	2
DCC	1630	broad.mit.edu	37	18	50923679	50923679	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:50923679C>A	uc002lfe.1	+	c.2690C>A	c.(2689-2691)TCA>TAA	p.S897*	DCC_uc010xdr.1_Nonsense_Mutation_p.S725*|DCC_uc010dpf.1_Nonsense_Mutation_p.S532*	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	897	Extracellular (Potential).|Fibronectin type-III 5.				apoptosis|induction of apoptosis	cytosol|integral to membrane				ovary(6)|large_intestine(1)|central_nervous_system(1)|skin(1)	9		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)										0.22	47.094441	54.317532	22	78	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	50923679	50923679	4453	18	C	A	A	A	377	29	DCC	5	2
CDH7	1005	broad.mit.edu	37	18	63547735	63547735	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:63547735G>T	uc002ljz.2	+	c.1963G>T	c.(1963-1965)GAC>TAC	p.D655Y	CDH7_uc002lkb.2_Missense_Mutation_p.D655Y	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	655	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)	3		Esophageal squamous(42;0.129)												0.286885	87.567754	92.542908	35	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63547735	63547735	3244	18	G	T	T	T	585	45	CDH7	2	2
LAMA1	284217	broad.mit.edu	37	18	7015801	7015801	+	Missense_Mutation	SNP	A	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:7015801A>T	uc002knm.2	-	c.3046T>A	c.(3046-3048)TGC>AGC	p.C1016S	LAMA1_uc010wzj.1_Missense_Mutation_p.C492S	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1016	Laminin EGF-like 11.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|breast(2)|pancreas(2)|central_nervous_system(1)	17		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)					1597				0.223776	78.224638	88.25423	32	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7015801	7015801	8928	18	A	T	T	T	91	7	LAMA1	3	3
ZNF516	9658	broad.mit.edu	37	18	74154334	74154334	+	Missense_Mutation	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:74154334G>A	uc010dqx.1	-	c.677C>T	c.(676-678)GCG>GTG	p.A226V	ZNF516_uc002lme.2_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)										0.207547	22.194678	26.396033	11	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74154334	74154334	18554	18	G	A	A	A	494	38	ZNF516	1	1
GALR1	2587	broad.mit.edu	37	18	74963084	74963085	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:74963084_74963085CC>AA	uc002lms.3	+	c.580_581CC>AA	c.(580-582)CCT>AAT	p.P194N		NM_001480	NP_001471	P47211	GALR1_HUMAN	galanin receptor 1	194	Extracellular (Potential).				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity				0		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)										0.226087	59.086858	67.01705	26	89	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	74963084	74963085	6491	18	CC	AA	AA	AA	286	22	GALR1	2	2
MIDN	90007	broad.mit.edu	37	19	1254919	1254919	+	Missense_Mutation	SNP	A	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:1254919A>T	uc002lrp.2	+	c.715A>T	c.(715-717)ACG>TCG	p.T239S		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	midnolin	239						nucleolus					0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)										0.308176	129.712978	134.930437	49	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1254919	1254919	9969	19	A	T	T	T	78	6	MIDN	3	3
CYP4F11	57834	broad.mit.edu	37	19	16025585	16025585	+	Silent	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:16025585G>T	uc002nbu.2	-	c.1236C>A	c.(1234-1236)CGC>CGA	p.R412R	CYP4F11_uc010eab.1_Silent_p.R412R|CYP4F11_uc002nbt.2_Silent_p.R412R	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN	cytochrome P450 family 4 subfamily F polypeptide	412					inflammatory response|oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1														0.227941	76.45614	85.692067	31	105	KEEP	---	---	---	---	capture		Silent	SNP	16025585	16025585	4351	19	G	T	T	T	483	38	CYP4F11	1	1
UPF1	5976	broad.mit.edu	37	19	18968170	18968170	+	Silent	SNP	G	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:18968170G>C	uc002nkg.2	+	c.2043G>C	c.(2041-2043)GTG>GTC	p.V681V	UPF1_uc002nkf.2_Silent_p.V670V|UPF1_uc002nkh.2_5'Flank	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	681					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1														0.197279	70.055084	82.653154	29	118	KEEP	---	---	---	---	capture		Silent	SNP	18968170	18968170	17563	19	G	C	C	C	574	45	UPF1	3	3
NDUFA13	51079	broad.mit.edu	37	19	19638158	19638159	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:19638158_19638159GG>TT	uc010xqy.1	+	c.491_492GG>TT	c.(490-492)CGG>CTT	p.R164L	NDUFA13_uc002nms.2_Missense_Mutation_p.R164L|NDUFA13_uc010xqx.1_Missense_Mutation_p.R164L|YJEFN3_uc002nmt.1_5'Flank|YJEFN3_uc010ecf.1_5'Flank|YJEFN3_uc002nmu.1_5'Flank	NM_015965	NP_057049	Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	81					apoptotic nuclear change|induction of apoptosis by extracellular signals|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|negative regulation of translation|protein import into nucleus|reactive oxygen species metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex I|nucleoplasm	ATP binding|NADH dehydrogenase (ubiquinone) activity|protein binding				0					NADH(DB00157)					42				0.111111	5.945728	12.67068	5	40	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	19638158	19638159	10662	19	GG	TT	TT	TT	507	39	NDUFA13	1	1
GPATCH1	55094	broad.mit.edu	37	19	33588796	33588796	+	Missense_Mutation	SNP	A	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:33588796A>G	uc002nug.1	+	c.988A>G	c.(988-990)AAA>GAA	p.K330E		NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	330					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	nucleic acid binding				0	Esophageal squamous(110;0.137)					Pancreas(67;88 1713 4567 18227)								0.264	93.209748	99.515196	33	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33588796	33588796	6864	19	A	G	G	G	169	13	GPATCH1	4	4
LRFN3	79414	broad.mit.edu	37	19	36430769	36430769	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36430769G>T	uc002oco.2	+	c.442G>T	c.(442-444)GCC>TCC	p.A148S		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	148	LRR 4.|Extracellular (Potential).				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)											0.345455	47.374816	48.550047	19	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36430769	36430769	9312	19	G	T	T	T	546	42	LRFN3	2	2
RYR1	6261	broad.mit.edu	37	19	38939385	38939385	+	Missense_Mutation	SNP	T	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38939385T>G	uc002oit.2	+	c.1054T>G	c.(1054-1056)TCA>GCA	p.S352A	RYR1_uc002oiu.2_Missense_Mutation_p.S352A	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	352	Cytoplasmic.|MIR 5.				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)									0.292517	124.47031	130.134404	43	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38939385	38939385	14248	19	T	G	G	G	702	54	RYR1	4	4
ZNF780B	163131	broad.mit.edu	37	19	40541382	40541382	+	Missense_Mutation	SNP	G	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:40541382G>C	uc002omu.2	-	c.1384C>G	c.(1384-1386)CAA>GAA	p.Q462E	ZNF780B_uc002omv.2_Missense_Mutation_p.Q314E	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	462	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)													0.071429	-2.316246	34.809976	14	182	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40541382	40541382	18751	19	G	C	C	C	585	45	ZNF780B	3	3
PPP5C	5536	broad.mit.edu	37	19	46878954	46878954	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:46878954G>T	uc002pem.2	+	c.457G>T	c.(457-459)GCG>TCG	p.A153S	PPP5C_uc010xya.1_Missense_Mutation_p.A20S|PPP5C_uc002pen.2_Missense_Mutation_p.A153S	NM_006247	NP_006238	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	153					mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			lung(1)|pancreas(1)	2		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)										0.325	37.161135	38.248184	13	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46878954	46878954	12842	19	G	T	T	T	494	38	PPP5C	1	1
CCDC8	83987	broad.mit.edu	37	19	46914764	46914764	+	Missense_Mutation	SNP	C	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:46914764C>G	uc002pep.2	-	c.1304G>C	c.(1303-1305)GGC>GCC	p.G435A		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	435						plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)										0.232323	57.370337	63.875469	23	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46914764	46914764	2977	19	C	G	G	G	338	26	CCDC8	3	3
GRLF1	2909	broad.mit.edu	37	19	47491246	47491246	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:47491246G>T	uc010ekv.2	+	c.3827G>T	c.(3826-3828)GGA>GTA	p.G1276V		NM_004491	NP_004482	Q9NRY4	GRLF1_HUMAN	glucocorticoid receptor DNA binding factor 1	1276	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	DNA binding|Rho GTPase activator activity|transcription corepressor activity|transcription repressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)										0.266667	28.278689	30.492752	12	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47491246	47491246	7074	19	G	T	T	T	533	41	GRLF1	2	2
ELSPBP1	64100	broad.mit.edu	37	19	48519237	48519237	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:48519237G>T	uc002pht.2	+	c.296G>T	c.(295-297)TGG>TTG	p.W99L		NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1 precursor	99	Fibronectin type-II 2.				single fertilization	extracellular region					0		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)										0.212389	53.674072	62.287846	24	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48519237	48519237	5275	19	G	T	T	T	611	47	ELSPBP1	2	2
ZNF114	163071	broad.mit.edu	37	19	48790040	48790040	+	Missense_Mutation	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:48790040C>T	uc002pil.1	+	c.1159C>T	c.(1159-1161)CCC>TCC	p.P387S	ZNF114_uc010elv.1_Missense_Mutation_p.P387S|ZNF114_uc002pim.1_Missense_Mutation_p.P387S|ZNF114_uc002pin.2_Missense_Mutation_p.P353S	NM_153608	NP_705836	Q8NC26	ZN114_HUMAN	zinc finger protein 114	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)										0.312977	110.029962	114.107218	41	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48790040	48790040	18307	19	C	T	T	T	234	18	ZNF114	2	2
CA11	770	broad.mit.edu	37	19	49142169	49142169	+	Silent	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:49142169G>T	uc002pjz.1	-	c.937C>A	c.(937-939)CGA>AGA	p.R313R	SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron|DBP_uc002pjx.3_5'Flank|DBP_uc002pjy.2_5'Flank|DBP_uc010elz.1_5'Flank	NM_001217	NP_001208	O75493	CAH11_HUMAN	carbonic anhydrase XI precursor	313						extracellular region					0		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)										0.257143	22.760699	24.630616	9	26	KEEP	---	---	---	---	capture		Silent	SNP	49142169	49142169	2628	19	G	T	T	T	506	39	CA11	1	1
FUT1	2523	broad.mit.edu	37	19	49253722	49253722	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:49253722C>A	uc002pkk.2	-	c.817G>T	c.(817-819)GAC>TAC	p.D273Y		NM_000148	NP_000139	P19526	FUT1_HUMAN	fucosyltransferase 1	273	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			ovary(1)	1		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)										0.256	154.479129	167.981353	64	186	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49253722	49253722	6352	19	C	A	A	A	403	31	FUT1	1	1
SHANK1	50944	broad.mit.edu	37	19	51169662	51169662	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51169662G>T	uc002psx.1	-	c.5555C>A	c.(5554-5556)CCC>CAC	p.P1852H	SHANK1_uc002psw.1_Missense_Mutation_p.P1236H	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1852	Poly-Pro.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)										0.212766	21.122829	24.708148	10	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51169662	51169662	14756	19	G	T	T	T	559	43	SHANK1	2	2
C19orf75	284369	broad.mit.edu	37	19	51768891	51768891	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51768891C>A	uc002pwb.1	+	c.292C>A	c.(292-294)CTA>ATA	p.L98I	C19orf75_uc010eov.1_Intron|C19orf75_uc010ycw.1_Intron	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	hypothetical protein LOC284369	98						integral to membrane				ovary(1)|pancreas(1)	2														0.222222	83.006819	94.511695	36	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51768891	51768891	2015	19	C	A	A	A	311	24	C19orf75	2	2
SIGLEC10	89790	broad.mit.edu	37	19	51918110	51918110	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51918110C>A	uc002pwo.2	-	c.1583G>T	c.(1582-1584)GGG>GTG	p.G528V	SIGLEC10_uc002pwp.2_Missense_Mutation_p.G470V|SIGLEC10_uc002pwq.2_Intron|SIGLEC10_uc002pwr.2_Intron|SIGLEC10_uc010ycy.1_Intron|SIGLEC10_uc010ycz.1_Intron|SIGLEC10_uc010eow.2_Intron|SIGLEC10_uc002pws.1_Intron	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10 precursor	528	Extracellular (Potential).				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)										0.251232	115.155624	126.563164	51	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51918110	51918110	14801	19	C	A	A	A	286	22	SIGLEC10	2	2
FPR2	2358	broad.mit.edu	37	19	52272906	52272906	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52272906C>A	uc002pxr.2	+	c.995C>A	c.(994-996)ACT>AAT	p.T332N	FPR2_uc002pxs.3_Missense_Mutation_p.T332N|FPR2_uc010epf.2_Missense_Mutation_p.T332N	NM_001005738	NP_001005738	P25090	FPR2_HUMAN	formyl peptide receptor-like 1	332	Cytoplasmic (Potential).				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			ovary(1)	1														0.269231	52.337093	56.088191	21	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52272906	52272906	6285	19	C	A	A	A	260	20	FPR2	2	2
NLRP12	91662	broad.mit.edu	37	19	54304481	54304481	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54304481C>A	uc002qcj.3	-	c.2759G>T	c.(2758-2760)CGG>CTG	p.R920L	NLRP12_uc010eqw.2_Missense_Mutation_p.R202L|NLRP12_uc002qch.3_Missense_Mutation_p.R919L|NLRP12_uc002qci.3_Missense_Mutation_p.R919L|NLRP12_uc002qck.3_Intron|NLRP12_uc010eqx.2_Intron	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	919	LRR 4.				activation of caspase activity|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|lung(1)	5	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)										0.207317	39.342352	45.841437	17	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54304481	54304481	10877	19	C	A	A	A	299	23	NLRP12	1	1
CACNG7	59284	broad.mit.edu	37	19	54445373	54445373	+	Silent	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54445373C>T	uc002qcr.1	+	c.654C>T	c.(652-654)CGC>CGT	p.R218R		NM_031896	NP_114102	P62955	CCG7_HUMAN	voltage-dependent calcium channel gamma-7	218				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(1)	1	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)										0.322581	75.313373	77.914964	30	63	KEEP	---	---	---	---	capture		Silent	SNP	54445373	54445373	2678	19	C	T	T	T	327	26	CACNG7	2	2
LILRA1	11024	broad.mit.edu	37	19	55107393	55107393	+	Silent	SNP	G	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55107393G>C	uc002qgh.1	+	c.951G>C	c.(949-951)CTG>CTC	p.L317L	LILRA2_uc010yfg.1_Silent_p.L315L|LILRA1_uc010yfh.1_Silent_p.L317L	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	317	Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0348)										0.277778	71.673622	75.723039	25	65	KEEP	---	---	---	---	capture		Silent	SNP	55107393	55107393	9110	19	G	C	C	C	574	45	LILRA1	3	3
PTPRH	5794	broad.mit.edu	37	19	55693445	55693445	+	Missense_Mutation	SNP	A	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55693445A>T	uc002qjq.2	-	c.3137T>A	c.(3136-3138)CTT>CAT	p.L1046H	PTPRH_uc010esv.2_Missense_Mutation_p.L868H|SYT5_uc002qjm.1_5'Flank|SYT5_uc002qjp.2_5'Flank|SYT5_uc002qjn.1_5'Flank|SYT5_uc002qjo.1_5'Flank	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1046	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|large_intestine(1)	3		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)										0.26738	120.791153	129.916674	50	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55693445	55693445	13260	19	A	T	T	T	39	3	PTPRH	3	3
NLRP8	126205	broad.mit.edu	37	19	56459349	56459349	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56459349G>T	uc002qmh.2	+	c.81G>T	c.(79-81)TGG>TGT	p.W27C	NLRP8_uc010etg.2_Missense_Mutation_p.W27C	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	27						cytoplasm	ATP binding			ovary(4)|breast(3)|large_intestine(1)|kidney(1)|skin(1)	10		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)										0.255172	83.898853	91.790352	37	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56459349	56459349	10886	19	G	T	T	T	533	41	NLRP8	2	2
ZNF835	90485	broad.mit.edu	37	19	57175089	57175089	+	Missense_Mutation	SNP	T	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57175089T>C	uc010ygo.1	-	c.1544A>G	c.(1543-1545)CAG>CGG	p.Q515R	ZNF835_uc010ygn.1_Missense_Mutation_p.Q493R	NM_001005850	NP_001005850	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	515	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(3)|skin(1)	4														0.180212	113.955584	141.182897	51	232	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57175089	57175089	18785	19	T	C	C	C	715	55	ZNF835	4	4
ZNF835	90485	broad.mit.edu	37	19	57175250	57175250	+	Silent	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57175250C>T	uc010ygo.1	-	c.1383G>A	c.(1381-1383)ACG>ACA	p.T461T	ZNF835_uc010ygn.1_Silent_p.T439T	NM_001005850	NP_001005850	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	461	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(3)|skin(1)	4														0.216667	58.303664	67.176737	26	94	KEEP	---	---	---	---	capture		Silent	SNP	57175250	57175250	18785	19	C	T	T	T	340	27	ZNF835	1	1
USP29	57663	broad.mit.edu	37	19	57641790	57641790	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57641790C>A	uc002qny.2	+	c.1747C>A	c.(1747-1749)CTG>ATG	p.L583M		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	583					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			ovary(2)|breast(2)|pancreas(1)	5		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)										0.269841	82.985615	89.014205	34	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57641790	57641790	17623	19	C	A	A	A	363	28	USP29	2	2
ZNF264	9422	broad.mit.edu	37	19	57705360	57705360	+	Missense_Mutation	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57705360G>A	uc002qob.2	+	c.151G>A	c.(151-153)GTG>ATG	p.V51M		NM_003417	NP_003408	O43296	ZN264_HUMAN	zinc finger protein 264	51	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)										0.260163	78.266984	84.65846	32	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57705360	57705360	18396	19	G	A	A	A	572	44	ZNF264	2	2
ZNF135	7694	broad.mit.edu	37	19	58579298	58579298	+	Silent	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58579298C>A	uc010yhq.1	+	c.1482C>A	c.(1480-1482)ACC>ACA	p.T494T	ZNF135_uc002qre.2_Silent_p.T482T|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Silent_p.T440T|ZNF135_uc002qrg.2_Silent_p.T452T|ZNF135_uc010yhr.1_Silent_p.T303T	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135 isoform 2	494					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)										0.194805	30.677861	37.369894	15	62	KEEP	---	---	---	---	capture		Silent	SNP	58579298	58579298	18316	19	C	A	A	A	275	22	ZNF135	2	2
LPPR3	79948	broad.mit.edu	37	19	814479	814479	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:814479G>T	uc002lpw.1	-	c.870C>A	c.(868-870)GAC>GAA	p.D290E	LPPR3_uc010dru.1_Missense_Mutation_p.D174E|LPPR3_uc002lpx.1_Missense_Mutation_p.D262E|LPPR3_uc002lpy.1_Missense_Mutation_p.D43E	NM_024888	NP_079164	Q6T4P5	LPPR3_HUMAN	plasticity-related protein 2	262						integral to membrane	phosphatidate phosphatase activity				0														0.296296	20.481433	21.489107	8	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	814479	814479	9299	19	G	T	T	T	516	40	LPPR3	1	1
MUC16	94025	broad.mit.edu	37	19	9065905	9065905	+	Missense_Mutation	SNP	T	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9065905T>A	uc002mkp.2	-	c.21541A>T	c.(21541-21543)ACA>TCA	p.T7181S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	7183	Ser-rich.|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														0.307692	106.924501	111.227251	40	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9065905	9065905	10367	19	T	A	A	A	767	59	MUC16	3	3
MUC16	94025	broad.mit.edu	37	19	9071876	9071876	+	Silent	SNP	A	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9071876A>G	uc002mkp.2	-	c.15570T>C	c.(15568-15570)CCT>CCC	p.P5190P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5192	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														0.31728	363.807535	374.267565	112	241	KEEP	---	---	---	---	capture		Silent	SNP	9071876	9071876	10367	19	A	G	G	G	184	15	MUC16	4	4
VCAM1	7412	broad.mit.edu	37	1	101190255	101190255	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:101190255G>T	uc001dti.2	+	c.737G>T	c.(736-738)TGT>TTT	p.C246F	VCAM1_uc001dtj.2_Missense_Mutation_p.C246F|VCAM1_uc010ouj.1_Missense_Mutation_p.C184F	NM_001078	NP_001069	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1 isoform a	246	Ig-like C2-type 3.|Extracellular (Potential).				B cell differentiation|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(1)	1		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)									0.201754	53.257548	62.682284	23	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101190255	101190255	17702	1	G	T	T	T	624	48	VCAM1	2	2
UBE4B	10277	broad.mit.edu	37	1	10238755	10238755	+	Silent	SNP	A	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:10238755A>T	uc001aqs.3	+	c.3579A>T	c.(3577-3579)GCA>GCT	p.A1193A	UBE4B_uc001aqr.3_Silent_p.A1064A|UBE4B_uc010oai.1_Non-coding_Transcript|UBE4B_uc010oaj.1_Silent_p.A648A|UBE4B_uc001aqu.2_Silent_p.A74A	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	1193					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(1)	3		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-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;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)										0.169231	20.787018	27.517279	11	54	KEEP	---	---	---	---	capture		Silent	SNP	10238755	10238755	17441	1	A	T	T	T	80	7	UBE4B	3	3
COL11A1	1301	broad.mit.edu	37	1	103488398	103488398	+	Missense_Mutation	SNP	T	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:103488398T>C	uc001dum.2	-	c.1181A>G	c.(1180-1182)GAT>GGT	p.D394G	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dul.2_Missense_Mutation_p.D382G|COL11A1_uc001dun.2_Missense_Mutation_p.D343G|COL11A1_uc009weh.2_Intron	NM_080629	NP_542196	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform B	382	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|central_nervous_system(1)|pancreas(1)	11		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)										0.212121	70.424756	80.545655	28	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103488398	103488398	3805	1	T	C	C	C	650	50	COL11A1	4	4
SPAG17	200162	broad.mit.edu	37	1	118539080	118539080	+	Nonsense_Mutation	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:118539080G>A	uc001ehk.2	-	c.4966C>T	c.(4966-4968)CGA>TGA	p.R1656*		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1656						cilium|flagellar axoneme|microtubule				ovary(2)|large_intestine(1)	3	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)										0.243056	87.067891	95.724692	35	109	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	118539080	118539080	15482	1	G	A	A	A	480	37	SPAG17	5	1
SCNN1D	6339	broad.mit.edu	37	1	1221528	1221528	+	Missense_Mutation	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:1221528G>A	uc001adt.1	+	c.781G>A	c.(781-783)GTC>ATC	p.V261I	SCNN1D_uc001adu.1_Missense_Mutation_p.V97I|SCNN1D_uc001adw.2_Missense_Mutation_p.V163I|SCNN1D_uc001adx.2_5'UTR|SCNN1D_uc001adv.2_Missense_Mutation_p.V97I	NM_001130413	NP_001123885	P51172	SCNND_HUMAN	sodium channel, nonvoltage-gated 1, delta	97	Helical; (By similarity).				response to stimulus|sensory perception of taste	integral to membrane	ligand-gated sodium channel activity|protein binding				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)									0.192308	9.958837	12.258781	5	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1221528	1221528	14411	1	G	A	A	A	572	44	SCNN1D	2	2
ATAD3C	219293	broad.mit.edu	37	1	1403796	1403796	+	Silent	SNP	G	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:1403796G>C	uc001aft.2	+	c.1122G>C	c.(1120-1122)CTG>CTC	p.L374L		NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	374							ATP binding|nucleoside-triphosphatase activity				0	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)										0.195652	22.960042	26.922729	9	37	KEEP	---	---	---	---	capture		Silent	SNP	1403796	1403796	1094	1	G	C	C	C	574	45	ATAD3C	3	3
TARS2	80222	broad.mit.edu	37	1	150470105	150470105	+	Missense_Mutation	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:150470105G>A	uc001euq.2	+	c.1120G>A	c.(1120-1122)GAC>AAC	p.D374N	TARS2_uc010pcd.1_Non-coding_Transcript|TARS2_uc001eur.2_Missense_Mutation_p.D292N|TARS2_uc009wlt.2_5'UTR|TARS2_uc009wls.2_Missense_Mutation_p.D244N	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial	374					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)									0.123967	19.034198	35.770248	15	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150470105	150470105	16082	1	G	A	A	A	429	33	TARS2	2	2
IVL	3713	broad.mit.edu	37	1	152882470	152882470	+	Missense_Mutation	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152882470C>T	uc001fau.2	+	c.197C>T	c.(196-198)GCT>GTT	p.A66V		NM_005547	NP_005538	P07476	INVO_HUMAN	involucrin	66					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			ovary(3)	3	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)											0.504505	173.893707	173.895585	56	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152882470	152882470	8233	1	C	T	T	T	364	28	IVL	2	2
IVL	3713	broad.mit.edu	37	1	152882785	152882785	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152882785G>T	uc001fau.2	+	c.512G>T	c.(511-513)GGA>GTA	p.G171V		NM_005547	NP_005538	P07476	INVO_HUMAN	involucrin	171	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].|2.				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			ovary(3)	3	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)											0.431818	49.202408	49.383293	19	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152882785	152882785	8233	1	G	T	T	T	533	41	IVL	2	2
PGLYRP4	57115	broad.mit.edu	37	1	153303330	153303330	+	Silent	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:153303330C>A	uc001fbo.2	-	c.1035G>T	c.(1033-1035)CTG>CTT	p.L345L	PGLYRP4_uc001fbp.2_Silent_p.L341L	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein-I-beta	345					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity			ovary(3)	3	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)											0.272085	193.651596	206.904889	77	206	KEEP	---	---	---	---	capture		Silent	SNP	153303330	153303330	12219	1	C	A	A	A	262	21	PGLYRP4	2	2
SYT11	23208	broad.mit.edu	37	1	155851156	155851156	+	Missense_Mutation	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155851156G>A	uc001fmg.2	+	c.1153G>A	c.(1153-1155)GAT>AAT	p.D385N	SYT11_uc010pgq.1_Missense_Mutation_p.D78N	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	synaptotagmin XI	385	C2 2.|Cytoplasmic (Potential).					cell junction|synaptic vesicle membrane	protein binding|transporter activity			ovary(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)											0.057143	-73.717087	92.04617	46	759	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155851156	155851156	15988	1	G	A	A	A	481	37	SYT11	1	1
FCRL5	83416	broad.mit.edu	37	1	157514076	157514076	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157514076G>T	uc001fqu.2	-	c.820C>A	c.(820-822)CCG>ACG	p.P274T	FCRL5_uc009wsm.2_Missense_Mutation_p.P274T|FCRL5_uc010phv.1_Missense_Mutation_p.P274T|FCRL5_uc010phw.1_Missense_Mutation_p.P189T|FCRL5_uc001fqv.1_Missense_Mutation_p.P274T|FCRL5_uc010phx.1_Missense_Mutation_p.P25T	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	274	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)												0.655172	719.381333	726.777905	228	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157514076	157514076	6035	1	G	T	T	T	559	43	FCRL5	2	2
ATP1A2	477	broad.mit.edu	37	1	160104960	160104960	+	Missense_Mutation	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160104960G>A	uc001fvc.2	+	c.1990G>A	c.(1990-1992)GGC>AGC	p.G664S	ATP1A2_uc001fvb.2_Missense_Mutation_p.G664S|ATP1A2_uc001fvd.2_Missense_Mutation_p.G400S	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	664	Cytoplasmic (Potential).				ATP biosynthetic process	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|central_nervous_system(2)	4	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)											0.165138	36.79136	48.382174	18	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160104960	160104960	1148	1	G	A	A	A	507	39	ATP1A2	1	1
SLAMF1	6504	broad.mit.edu	37	1	160604515	160604515	+	Silent	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160604515G>T	uc001fwl.3	-	c.588C>A	c.(586-588)CTC>CTA	p.L196L	SLAMF1_uc010pjk.1_Non-coding_Transcript|SLAMF1_uc010pjl.1_Non-coding_Transcript|SLAMF1_uc010pjm.1_Non-coding_Transcript	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family	196	Ig-like C2-type.|Extracellular (Potential).|Ig-like V-type.				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			ovary(1)|breast(1)	2	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)											0.653659	405.083991	409.353737	134	71	KEEP	---	---	---	---	capture		Silent	SNP	160604515	160604515	14862	1	G	T	T	T	574	45	SLAMF1	2	2
NUF2	83540	broad.mit.edu	37	1	163317609	163317609	+	Missense_Mutation	SNP	G	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:163317609G>C	uc001gcq.1	+	c.1005G>C	c.(1003-1005)AAG>AAC	p.K335N	NUF2_uc001gcr.1_Missense_Mutation_p.K335N|NUF2_uc009wvc.1_Missense_Mutation_p.K288N	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	335	Interaction with the N-terminus of NDC80.|Potential.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			ovary(3)	3	all_hematologic(923;0.101)													0.092784	8.297314	24.482124	9	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	163317609	163317609	11152	1	G	C	C	C	425	33	NUF2	3	3
F5	2153	broad.mit.edu	37	1	169519136	169519136	+	Missense_Mutation	SNP	T	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:169519136T>A	uc001ggg.1	-	c.1514A>T	c.(1513-1515)TAC>TTC	p.Y505F	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	505	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|oxidation-reduction process|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)	5	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)									0.275132	132.824175	141.427393	52	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169519136	169519136	5542	1	T	A	A	A	741	57	F5	3	3
TNN	63923	broad.mit.edu	37	1	175067547	175067547	+	Silent	SNP	C	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175067547C>G	uc001gkl.1	+	c.1935C>G	c.(1933-1935)GCC>GCG	p.A645A	TNN_uc010pmx.1_Silent_p.A556A	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	645	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)					p.A645A(SW837-Tumor)	470				0.282051	147.893914	156.257316	55	140	KEEP	---	---	---	---	capture		Silent	SNP	175067547	175067547	16864	1	C	G	G	G	288	23	TNN	3	3
TNR	7143	broad.mit.edu	37	1	175365895	175365895	+	Missense_Mutation	SNP	A	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175365895A>T	uc001gkp.1	-	c.1025T>A	c.(1024-1026)ATT>AAT	p.I342N	TNR_uc009wwu.1_Missense_Mutation_p.I342N|TNR_uc010pmz.1_Intron	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	342	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)													0.127962	30.277169	58.755303	27	184	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175365895	175365895	16879	1	A	T	T	T	52	4	TNR	3	3
PAPPA2	60676	broad.mit.edu	37	1	176659372	176659372	+	Missense_Mutation	SNP	A	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176659372A>T	uc001gkz.2	+	c.2237A>T	c.(2236-2238)AAA>ATA	p.K746I	PAPPA2_uc001gky.1_Missense_Mutation_p.K746I|PAPPA2_uc009www.2_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	746	Metalloprotease.				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														0.156593	92.246273	133.217087	57	307	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176659372	176659372	11850	1	A	T	T	T	13	1	PAPPA2	3	3
PAPPA2	60676	broad.mit.edu	37	1	176709330	176709330	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176709330G>T	uc001gkz.2	+	c.4149G>T	c.(4147-4149)CAG>CAT	p.Q1383H	PAPPA2_uc009www.2_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1383					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														0.211111	36.364619	43.324627	19	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176709330	176709330	11850	1	G	T	T	T	425	33	PAPPA2	2	2
PAPPA2	60676	broad.mit.edu	37	1	176734888	176734888	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176734888G>T	uc001gkz.2	+	c.4238G>T	c.(4237-4239)GGC>GTC	p.G1413V	PAPPA2_uc009www.2_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1413	Sushi 1.				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														0.273684	196.115125	209.275837	78	207	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176734888	176734888	11850	1	G	T	T	T	546	42	PAPPA2	2	2
CACNA1E	777	broad.mit.edu	37	1	181686252	181686252	+	Missense_Mutation	SNP	A	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:181686252A>T	uc001gow.2	+	c.1339A>T	c.(1339-1341)ATC>TTC	p.I447F	CACNA1E_uc009wxs.2_Missense_Mutation_p.I354F	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	447	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6														0.2	66.951277	79.915895	31	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	181686252	181686252	2658	1	A	T	T	T	208	16	CACNA1E	3	3
CACNA1E	777	broad.mit.edu	37	1	181708286	181708286	+	Missense_Mutation	SNP	A	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:181708286A>T	uc001gow.2	+	c.3616A>T	c.(3616-3618)ATA>TTA	p.I1206L	CACNA1E_uc009wxs.2_Missense_Mutation_p.I1094L|CACNA1E_uc001gox.1_Missense_Mutation_p.I432L|CACNA1E_uc009wxt.2_Missense_Mutation_p.I432L	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1206	III.|Helical; Name=S2 of repeat III.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6														0.155251	53.116609	77.980986	34	185	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	181708286	181708286	2658	1	A	T	T	T	156	12	CACNA1E	3	3
ASPM	259266	broad.mit.edu	37	1	197074309	197074309	+	Missense_Mutation	SNP	A	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197074309A>C	uc001gtu.2	-	c.4072T>G	c.(4072-4074)TGG>GGG	p.W1358G	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1358	IQ 1.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6														0.183099	66.967404	80.35107	26	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197074309	197074309	1075	1	A	C	C	C	65	5	ASPM	4	4
CRB1	23418	broad.mit.edu	37	1	197390141	197390141	+	Missense_Mutation	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197390141G>A	uc001gtz.2	+	c.1183G>A	c.(1183-1185)GAA>AAA	p.E395K	CRB1_uc010poz.1_Missense_Mutation_p.E326K|CRB1_uc010ppa.1_Non-coding_Transcript|CRB1_uc009wza.2_Missense_Mutation_p.E283K|CRB1_uc010ppb.1_Missense_Mutation_p.E395K|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.1_5'UTR|CRB1_uc001gub.1_Missense_Mutation_p.E44K	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	395	Extracellular (Potential).|EGF-like 9.				cell-cell signaling|establishment or maintenance of cell polarity|response to stimulus|visual perception	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|large_intestine(1)	6														0.120755	38.916129	76.282404	32	233	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197390141	197390141	3987	1	G	A	A	A	481	37	CRB1	1	1
PPP1R12B	4660	broad.mit.edu	37	1	202406948	202406948	+	Splice_Site_SNP	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:202406948G>T	uc001gxz.1	+	c.1255_splice	c.e10-1	p.F419_splice	PPP1R12B_uc001gxy.2_Splice_Site_SNP_p.F419_splice|PPP1R12B_uc009xad.1_Splice_Site_SNP_p.F225_splice|PPP1R12B_uc009xae.1_Splice_Site_SNP_p.V381_splice|PPP1R12B_uc001gya.1_Splice_Site_SNP_p.F419_splice	NM_032105	NP_115288			protein phosphatase 1, regulatory (inhibitor)						regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)											0.175182	45.408976	59.048665	24	113	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	202406948	202406948	12790	1	G	T	T	T	468	36	PPP1R12B	5	2
KDM5B	10765	broad.mit.edu	37	1	202699059	202699059	+	Missense_Mutation	SNP	C	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:202699059C>G	uc009xag.2	-	c.4381G>C	c.(4381-4383)GAA>CAA	p.E1461Q	KDM5B_uc001gyf.2_Missense_Mutation_p.E1425Q|KDM5B_uc001gyg.1_Missense_Mutation_p.E1267Q	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	1425					negative regulation of transcription, DNA-dependent|oxidation-reduction process	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5														0.560284	552.397478	553.295864	158	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	202699059	202699059	8440	1	C	G	G	G	390	30	KDM5B	3	3
ADORA1	134	broad.mit.edu	37	1	203134620	203134620	+	Silent	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:203134620C>T	uc010pqh.1	+	c.672C>T	c.(670-672)CCC>CCT	p.P224P	FMOD_uc010pqi.1_Intron|ADORA1_uc001gze.1_Silent_p.P191P|ADORA1_uc001gzf.1_Silent_p.P191P|ADORA1_uc010pqg.1_Silent_p.P123P|ADORA1_uc009xak.1_Missense_Mutation_p.P117S	NM_001048230	NP_001041695	P30542	AA1R_HUMAN	adenosine A1 receptor	191	Helical; Name=5; (Potential).				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				large_intestine(1)	1					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)									0.10303	12.447354	38.378994	17	148	KEEP	---	---	---	---	capture		Silent	SNP	203134620	203134620	327	1	C	T	T	T	275	22	ADORA1	2	2
PLA2G5	5322	broad.mit.edu	37	1	20416375	20416375	+	Silent	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:20416375C>A	uc001bcx.2	+	c.372C>A	c.(370-372)GGC>GGA	p.G124G	PLA2G5_uc001bcw.2_Non-coding_Transcript|PLA2G5_uc001bcy.2_Silent_p.G93G	NM_000929	NP_000920	P39877	PA2G5_HUMAN	phospholipase A2, group V precursor	93					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity				0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)										0.160714	17.45265	23.577151	9	47	KEEP	---	---	---	---	capture		Silent	SNP	20416375	20416375	12433	1	C	A	A	A	340	27	PLA2G5	1	1
NFASC	23114	broad.mit.edu	37	1	204970313	204970313	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:204970313C>A	uc001hbj.2	+	c.3035C>A	c.(3034-3036)TCC>TAC	p.S1012Y	NFASC_uc010pra.1_Intron|NFASC_uc001hbi.2_Intron|NFASC_uc010prb.1_Intron|NFASC_uc010prc.1_Intron|NFASC_uc001hbl.1_Intron|NFASC_uc001hbm.1_Intron|NFASC_uc009xbh.1_Intron	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	1119	Extracellular (Potential).|Fibronectin type-III 5.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)	4	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)											0.15625	7.652236	11.264629	5	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	204970313	204970313	10759	1	C	A	A	A	390	30	NFASC	2	2
KIF17	57576	broad.mit.edu	37	1	21044096	21044096	+	Missense_Mutation	SNP	G	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:21044096G>C	uc001bdr.3	-	c.104C>G	c.(103-105)GCC>GGC	p.A35G	KIF17_uc001bds.3_Missense_Mutation_p.A35G	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	35	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)	3		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)										0.260274	48.561963	52.388343	19	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21044096	21044096	8590	1	G	C	C	C	546	42	KIF17	3	3
C1orf65	164127	broad.mit.edu	37	1	223567913	223567913	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:223567913G>T	uc001hoa.2	+	c.1096G>T	c.(1096-1098)GCC>TCC	p.A366S		NM_152610	NP_689823	Q8N715	CA065_HUMAN	hypothetical protein LOC164127	366	Potential.									central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0704)										0.62963	56.498831	56.909355	17	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	223567913	223567913	2129	1	G	T	T	T	494	38	C1orf65	1	1
EPHX1	2052	broad.mit.edu	37	1	226016497	226016497	+	Missense_Mutation	SNP	A	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:226016497A>C	uc001hpk.2	+	c.67A>C	c.(67-69)AAA>CAA	p.K23Q	EPHX1_uc001hpl.2_Missense_Mutation_p.K23Q	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	epoxide hydrolase 1	23					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			ovary(3)|lung(1)	4	Breast(184;0.197)													0.457143	168.998244	169.165038	48	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	226016497	226016497	5372	1	A	C	C	C	65	5	EPHX1	4	4
ACTN2	88	broad.mit.edu	37	1	236902645	236902645	+	Missense_Mutation	SNP	G	T	T	rs112882610		TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236902645G>T	uc001hyf.2	+	c.920G>T	c.(919-921)CGG>CTG	p.R307L	ACTN2_uc001hyg.2_Missense_Mutation_p.R99L|ACTN2_uc009xgi.1_Missense_Mutation_p.R307L|ACTN2_uc010pxu.1_Intron|ACTN2_uc001hyh.2_5'UTR	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	307	Spectrin 1.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)	4	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)											0.469027	161.469772	161.563534	53	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	236902645	236902645	206	1	G	T	T	T	507	39	ACTN2	1	1
NLRP3	114548	broad.mit.edu	37	1	247607348	247607348	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247607348C>A	uc001icr.2	+	c.2744C>A	c.(2743-2745)ACG>AAG	p.T915K	NLRP3_uc001ics.2_Missense_Mutation_p.T858K|NLRP3_uc001icu.2_Missense_Mutation_p.T915K|NLRP3_uc001icw.2_Missense_Mutation_p.T858K|NLRP3_uc001icv.2_Missense_Mutation_p.T801K|NLRP3_uc010pyw.1_Missense_Mutation_p.T893K	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	915	LRR 7.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			ovary(5)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	11	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)							412				0.40708	143.429296	144.281756	46	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247607348	247607348	10881	1	C	A	A	A	247	19	NLRP3	1	1
OR2B11	127623	broad.mit.edu	37	1	247614966	247614966	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247614966C>A	uc010pyx.1	-	c.319G>T	c.(319-321)GTC>TTC	p.V107F		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B,	107	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	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;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)											0.475	171.251154	171.316941	57	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247614966	247614966	11394	1	C	A	A	A	260	20	OR2B11	2	2
C1orf150	148823	broad.mit.edu	37	1	247737611	247737611	+	Missense_Mutation	SNP	T	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247737611T>C	uc001idf.2	+	c.335T>C	c.(334-336)CTT>CCT	p.L112P	C1orf150_uc009xgw.2_Non-coding_Transcript|C1orf150_uc001ida.3_Non-coding_Transcript|C1orf150_uc001idb.3_Non-coding_Transcript|C1orf150_uc009xgx.2_Non-coding_Transcript	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	hypothetical protein LOC148823	112											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;0.0241)											0.206107	75.161883	85.642802	27	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247737611	247737611	2071	1	T	C	C	C	728	56	C1orf150	4	4
RUNX3	864	broad.mit.edu	37	1	25291042	25291042	+	Silent	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:25291042G>A	uc009vrj.2	-	c.21C>T	c.(19-21)TTC>TTT	p.F7F	RUNX3_uc001bjr.2_Silent_p.F7F|RUNX3_uc009vrk.2_Silent_p.F7F|RUNX3_uc009vrl.1_Silent_p.F7F	NM_001031680	NP_001026850	Q13761	RUNX3_HUMAN	runt-related transcription factor 3 isoform 1	252	Pro/Ser/Thr-rich.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)										0.208333	10.861775	12.752709	5	19	KEEP	---	---	---	---	capture		Silent	SNP	25291042	25291042	14229	1	G	A	A	A	477	37	RUNX3	1	1
HPCAL4	51440	broad.mit.edu	37	1	40148339	40148339	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:40148339G>T	uc001cdr.2	-	c.445C>A	c.(445-447)CAG>AAG	p.Q149K	HPCAL4_uc010oix.1_Missense_Mutation_p.Q77K	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	hippocalcin-like protein 4	149	EF-hand 4.				central nervous system development	intracellular	calcium ion binding			central_nervous_system(1)	1	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)											0.215569	79.298443	91.77699	36	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40148339	40148339	7623	1	G	T	T	T	598	46	HPCAL4	2	2
CTPS	1503	broad.mit.edu	37	1	41453091	41453091	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:41453091G>T	uc001cgk.3	+	c.385G>T	c.(385-387)GCG>TCG	p.A129S	CTPS_uc010ojo.1_Intron|CTPS_uc010ojp.1_Missense_Mutation_p.A136S|CTPS_uc001cgl.3_Missense_Mutation_p.A129S|CTPS_uc010ojq.1_5'Flank	NM_001905	NP_001896	P17812	PYRG1_HUMAN	CTP synthase	129					CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding				0	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)			L-Glutamine(DB00130)									0.288462	39.701669	41.789246	15	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41453091	41453091	4181	1	G	T	T	T	546	42	CTPS	2	2
GPX7	2882	broad.mit.edu	37	1	53073948	53073948	+	Missense_Mutation	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:53073948G>A	uc001cue.2	+	c.415G>A	c.(415-417)GAG>AAG	p.E139K		NM_015696	NP_056511	Q96SL4	GPX7_HUMAN	glutathione peroxidase 7 precursor	139					oxidation-reduction process|response to oxidative stress	extracellular region	glutathione peroxidase activity				0					Glutathione(DB00143)									0.221239	53.403516	61.511536	25	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53073948	53073948	7021	1	G	A	A	A	533	41	GPX7	2	2
CPT2	1376	broad.mit.edu	37	1	53676835	53676835	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:53676835G>T	uc001cvb.3	+	c.1489G>T	c.(1489-1491)GGC>TGC	p.G497C		NM_000098	NP_000089	P23786	CPT2_HUMAN	carnitine O-palmitoyltransferase precursor	497	Mitochondrial matrix (By similarity).				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity				0					L-Carnitine(DB00583)|Perhexiline(DB01074)									0.291667	18.815046	19.748212	7	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53676835	53676835	3973	1	G	T	T	T	507	39	CPT2	1	1
L1TD1	54596	broad.mit.edu	37	1	62675610	62675610	+	Missense_Mutation	SNP	T	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:62675610T>A	uc001dae.3	+	c.1164T>A	c.(1162-1164)GAT>GAA	p.D388E		NM_019079	NP_061952	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	388	Glu-rich.									ovary(1)	1														0.266667	65.158935	69.585759	24	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62675610	62675610	8912	1	T	A	A	A	660	51	L1TD1	3	3
SGIP1	84251	broad.mit.edu	37	1	67155929	67155929	+	Missense_Mutation	SNP	A	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:67155929A>T	uc001dcr.2	+	c.1500A>T	c.(1498-1500)TTA>TTT	p.L500F	SGIP1_uc010opd.1_Missense_Mutation_p.L100F|SGIP1_uc001dcs.2_Missense_Mutation_p.L100F|SGIP1_uc001dct.2_Missense_Mutation_p.L100F|SGIP1_uc009wat.2_Missense_Mutation_p.L294F	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	500					intracellular protein transport|positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess|vesicle-mediated transport	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3														0.293023	159.817537	168.079447	63	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67155929	67155929	14697	1	A	T	T	T	193	15	SGIP1	3	3
AK5	26289	broad.mit.edu	37	1	77987585	77987585	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:77987585G>T	uc001dhn.2	+	c.1385G>T	c.(1384-1386)GGC>GTC	p.G462V	AK5_uc001dho.2_Missense_Mutation_p.G436V	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5 isoform 1	462	AMP (By similarity).				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			skin(1)	1														0.25	43.914761	48.005958	18	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77987585	77987585	446	1	G	T	T	T	546	42	AK5	2	2
ZZZ3	26009	broad.mit.edu	37	1	78047770	78047770	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:78047770C>A	uc001dhq.2	-	c.1686G>T	c.(1684-1686)TTG>TTT	p.L562F	ZZZ3_uc001dhr.2_Missense_Mutation_p.L68F|ZZZ3_uc001dhp.2_Missense_Mutation_p.L562F	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|large_intestine(1)	5														0.188119	79.223345	97.622688	38	164	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78047770	78047770	18862	1	C	A	A	A	324	25	ZZZ3	2	2
CLCA4	22802	broad.mit.edu	37	1	87012868	87012868	+	Silent	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:87012868C>A	uc009wcs.2	+	c.66C>A	c.(64-66)TCC>TCA	p.S22S	CLCA4_uc009wct.2_5'UTR|CLCA4_uc009wcu.2_5'UTR	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	22						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			ovary(2)	2		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)										0.262295	78.837148	85.07876	32	90	KEEP	---	---	---	---	capture		Silent	SNP	87012868	87012868	3595	1	C	A	A	A	301	24	CLCA4	2	2
PTBP2	58155	broad.mit.edu	37	1	97278637	97278637	+	Missense_Mutation	SNP	A	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:97278637A>T	uc010otz.1	+	c.1489A>T	c.(1489-1491)ACT>TCT	p.T497S	PTBP2_uc001drn.2_Missense_Mutation_p.T486S|PTBP2_uc001dro.2_Missense_Mutation_p.T481S|PTBP2_uc001drp.2_Non-coding_Transcript|PTBP2_uc009wdw.2_Missense_Mutation_p.T429S|PTBP2_uc001drq.2_Missense_Mutation_p.T481S|PTBP2_uc001drr.2_Missense_Mutation_p.T486S|PTBP2_uc010oua.1_Missense_Mutation_p.T489S|PTBP2_uc001dru.2_Non-coding_Transcript|PTBP2_uc001drs.1_Missense_Mutation_p.T100S|PTBP2_uc001drt.2_Missense_Mutation_p.T100S	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	481	RRM 4.						nucleotide binding				0		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)										0.225352	75.1221	84.968882	32	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97278637	97278637	13180	1	A	T	T	T	78	6	PTBP2	3	3
LPPR4	9890	broad.mit.edu	37	1	99771388	99771388	+	Missense_Mutation	SNP	A	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:99771388A>G	uc001dse.2	+	c.1114A>G	c.(1114-1116)ACA>GCA	p.T372A	LPPR4_uc010oue.1_Missense_Mutation_p.T314A	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	372							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)										0.248062	87.548543	94.989464	32	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99771388	99771388	9300	1	A	G	G	G	182	14	LPPR4	4	4
SLC24A3	57419	broad.mit.edu	37	20	19674054	19674054	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:19674054C>A	uc002wrl.2	+	c.1476C>A	c.(1474-1476)TAC>TAA	p.Y492*		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	solute carrier family 24	492	Helical; (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(1)	1														0.242424	58.948815	64.939395	24	75	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	19674054	19674054	14964	20	C	A	A	A	220	17	SLC24A3	5	2
TMC2	117532	broad.mit.edu	37	20	2597907	2597907	+	Silent	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:2597907G>A	uc002wgf.1	+	c.2130G>A	c.(2128-2130)GTG>GTA	p.V710V	TMC2_uc002wgg.1_Silent_p.V694V	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	710	Helical; (Potential).					integral to membrane				ovary(3)	3														0.265625	39.134618	42.321421	17	47	KEEP	---	---	---	---	capture		Silent	SNP	2597907	2597907	16515	20	G	A	A	A	600	47	TMC2	2	2
OXT	5020	broad.mit.edu	37	20	3052311	3052311	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:3052311C>A	uc002wht.1	+	c.10C>A	c.(10-12)CCC>ACC	p.P4T		NM_000915	NP_000906	P01178	NEU1_HUMAN	oxytocin-neurophysin I preproprotein	4					signal transduction		neurohypophyseal hormone activity				0					Oxytocin(DB00107)									0.285714	10.193318	10.770808	4	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3052311	3052311	11750	20	C	A	A	A	286	22	OXT	2	2
FASTKD5	60493	broad.mit.edu	37	20	3128052	3128052	+	Silent	SNP	T	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:3128052T>A	uc002whz.2	-	c.1665A>T	c.(1663-1665)TCA>TCT	p.S555S	UBOX5_uc002whw.2_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Intron	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	555					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity				0														0.27193	83.979341	89.322592	31	83	KEEP	---	---	---	---	capture		Silent	SNP	3128052	3128052	5924	20	T	A	A	A	808	63	FASTKD5	3	3
C20orf194	25943	broad.mit.edu	37	20	3234371	3234371	+	Splice_Site_SNP	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:3234371C>A	uc002wii.2	-	c.3421_splice	c.e36+1	p.L1141_splice	C20orf194_uc002wij.3_Splice_Site_SNP_p.L880_splice|C20orf194_uc002wik.2_Splice_Site_SNP_p.L815_splice	NM_001009984	NP_001009984			hypothetical protein LOC25943												0														0.202703	35.520362	41.567473	15	59	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	3234371	3234371	2177	20	C	A	A	A	247	19	C20orf194	5	1
ITCH	83737	broad.mit.edu	37	20	33067498	33067498	+	Silent	SNP	A	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:33067498A>T	uc010geu.1	+	c.1845A>T	c.(1843-1845)GCA>GCT	p.A615A	ITCH_uc002xak.2_Silent_p.A574A|ITCH_uc010zuj.1_Silent_p.A464A	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	itchy homolog E3 ubiquitin protein ligase	615	HECT.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity				0														0.213415	84.443484	96.880228	35	129	KEEP	---	---	---	---	capture		Silent	SNP	33067498	33067498	8172	20	A	T	T	T	80	7	ITCH	3	3
ADAM33	80332	broad.mit.edu	37	20	3654111	3654111	+	Silent	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:3654111G>T	uc002wit.2	-	c.1023C>A	c.(1021-1023)GCC>GCA	p.A341A	ADAM33_uc002wir.1_Silent_p.A341A|ADAM33_uc002wis.2_5'UTR|ADAM33_uc002wiu.2_Silent_p.A341A|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_Silent_p.A353A|ADAM33_uc010zqh.1_Missense_Mutation_p.P367Q	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33 isoform alpha	341	Extracellular (Potential).|Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|ovary(1)|skin(1)	4														0.2	6.63177	7.875942	3	12	KEEP	---	---	---	---	capture		Silent	SNP	3654111	3654111	251	20	G	T	T	T	600	47	ADAM33	2	2
CHD6	84181	broad.mit.edu	37	20	40042045	40042045	+	Silent	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:40042045C>T	uc002xka.1	-	c.7050G>A	c.(7048-7050)GAG>GAA	p.E2350E	CHD6_uc002xjz.1_5'UTR	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2350					chromatin assembly or disassembly|chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|lung(2)|central_nervous_system(1)|skin(1)	10		Myeloproliferative disorder(115;0.00425)												0.097561	2.269575	8.91966	4	37	KEEP	---	---	---	---	capture		Silent	SNP	40042045	40042045	3463	20	C	T	T	T	415	32	CHD6	2	2
TOX2	84969	broad.mit.edu	37	20	42695474	42695474	+	Silent	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:42695474G>T	uc010ggo.2	+	c.1461G>T	c.(1459-1461)GGG>GGT	p.G487G	TOX2_uc002xle.3_Silent_p.G445G|TOX2_uc010ggp.2_Silent_p.G445G|TOX2_uc002xlf.3_Silent_p.G469G|TOX2_uc002xlg.2_Silent_p.G286G|TOX2_uc010zwk.1_Silent_p.G365G	NM_001098797	NP_001092267	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)											0.272727	107.88569	115.51913	45	120	KEEP	---	---	---	---	capture		Silent	SNP	42695474	42695474	16920	20	G	T	T	T	548	43	TOX2	2	2
HNF4A	3172	broad.mit.edu	37	20	43034856	43034856	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:43034856C>A	uc002xma.2	+	c.274C>A	c.(274-276)CAC>AAC	p.H92N	HNF4A_uc010zwo.1_Silent_p.T82T|HNF4A_uc002xlt.2_Missense_Mutation_p.H70N|HNF4A_uc002xlu.2_Missense_Mutation_p.H70N|HNF4A_uc002xlv.2_Missense_Mutation_p.H70N|HNF4A_uc002xly.2_Missense_Mutation_p.H92N|HNF4A_uc002xlz.2_Missense_Mutation_p.H92N|HNF4A_uc010ggq.2_Missense_Mutation_p.H85N	NM_000457	NP_000448	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4 alpha isoform b	92	Nuclear receptor.				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|positive regulation of gene-specific transcription from RNA polymerase II promoter|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|promoter binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			Colon(79;2 1269 8820 14841 52347)								0.271186	39.271547	42.059052	16	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43034856	43034856	7545	20	C	A	A	A	273	21	HNF4A	2	2
ZNF335	63925	broad.mit.edu	37	20	44587938	44587938	+	Missense_Mutation	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:44587938G>A	uc002xqw.2	-	c.2155C>T	c.(2155-2157)CGC>TGC	p.R719C	ZNF335_uc010zxk.1_Missense_Mutation_p.R564C	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	719					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)												0.330435	105.714102	108.642968	38	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44587938	44587938	18444	20	G	A	A	A	507	39	ZNF335	1	1
C20orf11	54994	broad.mit.edu	37	20	61576189	61576189	+	Silent	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:61576189C>T	uc002ydy.2	+	c.612C>T	c.(610-612)AAC>AAT	p.N204N		NM_017896	NP_060366	Q9NWU2	CT011_HUMAN	chromosome 20 open reading frame 11	204						nucleus	protein binding				0	Breast(26;5.68e-08)													0.242857	42.343272	46.560921	17	53	KEEP	---	---	---	---	capture		Silent	SNP	61576189	61576189	2155	20	C	T	T	T	246	19	C20orf11	1	1
PLCB1	23236	broad.mit.edu	37	20	8862495	8862495	+	Nonstop_Mutation	SNP	G	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:8862495G>C	uc002wnb.2	+	c.3650G>C	c.(3649-3651)TGA>TCA	p.*1217S	PLCB1_uc002wna.2_3'UTR	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	1217					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of gene-specific transcription|negative regulation of monocyte extravasation|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of gene-specific transcription|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity|transcription repressor activity			ovary(4)|breast(3)|lung(1)	8														0.229885	56.063581	61.87579	20	67	KEEP	---	---	---	---	capture		Nonstop_Mutation	SNP	8862495	8862495	12453	20	G	C	C	C	581	45	PLCB1	5	3
TPTE	7179	broad.mit.edu	37	21	10970037	10970037	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:10970037C>A	uc002yip.1	-	c.91G>T	c.(91-93)GCA>TCA	p.A31S	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.A31S|TPTE_uc002yir.1_Missense_Mutation_p.A31S|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	31					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)										0.128405	39.295361	73.882666	33	224	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10970037	10970037	16974	21	C	A	A	A	364	28	TPTE	2	2
DOPEY2	9980	broad.mit.edu	37	21	37664514	37664514	+	Missense_Mutation	SNP	C	G	G	rs34428315		TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:37664514C>G	uc002yvg.2	+	c.6628C>G	c.(6628-6630)CTA>GTA	p.L2210V	DOPEY2_uc011aeb.1_Missense_Mutation_p.L2159V	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	2210					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2														0.307692	97.961283	101.389569	32	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37664514	37664514	4892	21	C	G	G	G	415	32	DOPEY2	3	3
NEFH	4744	broad.mit.edu	37	22	29886353	29886353	+	Silent	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:29886353G>A	uc003afo.2	+	c.2724G>A	c.(2722-2724)AAG>AAA	p.K908K	NEFH_uc003afp.2_5'UTR	NM_021076	NP_066554	P12036	NFH_HUMAN	neurofilament, heavy polypeptide 200kDa	914	Tail.				cell death|nervous system development	neurofilament					0														0.277778	13.966957	14.766885	5	13	KEEP	---	---	---	---	capture		Silent	SNP	29886353	29886353	10713	22	G	A	A	A	451	35	NEFH	2	2
NMS	129521	broad.mit.edu	37	2	101093867	101093867	+	Silent	SNP	T	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:101093867T>A	uc002tan.1	+	c.252T>A	c.(250-252)GTT>GTA	p.V84V		NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN	neuromedin S precursor	84					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				ovary(1)	1														0.214286	20.155759	23.319275	9	33	KEEP	---	---	---	---	capture		Silent	SNP	101093867	101093867	10905	2	T	A	A	A	782	61	NMS	3	3
IL1RL1	9173	broad.mit.edu	37	2	102964544	102964544	+	Silent	SNP	T	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:102964544T>A	uc002tbu.1	+	c.1110T>A	c.(1108-1110)ACT>ACA	p.T370T	IL18R1_uc002tbw.3_Intron	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1 isoform 1	370	Cytoplasmic (Potential).				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			ovary(1)|central_nervous_system(1)|skin(1)	3														0.363636	56.085551	56.985091	20	35	KEEP	---	---	---	---	capture		Silent	SNP	102964544	102964544	7964	2	T	A	A	A	678	53	IL1RL1	3	3
SMPD4	55627	broad.mit.edu	37	2	130910224	130910224	+	Silent	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:130910224C>T	uc002tqq.1	-	c.2505G>A	c.(2503-2505)GGG>GGA	p.G835G	SMPD4_uc002tqo.1_Silent_p.G367G|SMPD4_uc002tqp.1_Silent_p.G574G|SMPD4_uc010yzy.1_Silent_p.G584G|SMPD4_uc010yzz.1_Silent_p.G499G|SMPD4_uc002tqr.1_Silent_p.G806G|SMPD4_uc002tqs.1_Silent_p.G703G|SMPD4_uc002tqt.1_Silent_p.G684G|SMPD4_uc010zaa.1_Silent_p.G693G|SMPD4_uc010zab.1_Silent_p.G733G|SMPD4_uc010zac.1_Silent_p.G576G|SMPD4_uc010zad.1_Silent_p.G471G	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4 isoform 2	796	Helical; (Potential).				sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity				0	Colorectal(110;0.1)				Phosphatidylserine(DB00144)									0.4	9.428958	9.506106	4	6	KEEP	---	---	---	---	capture		Silent	SNP	130910224	130910224	15307	2	C	T	T	T	327	26	SMPD4	2	2
LRP1B	53353	broad.mit.edu	37	2	141665515	141665515	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141665515G>T	uc002tvj.1	-	c.3451C>A	c.(3451-3453)CTG>ATG	p.L1151M	LRP1B_uc010fnl.1_Missense_Mutation_p.L333M	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1151	Extracellular (Potential).|LDL-receptor class A 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.232227	115.962506	129.821173	49	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141665515	141665515	9328	2	G	T	T	T	451	35	LRP1B	2	2
UPP2	151531	broad.mit.edu	37	2	158980311	158980311	+	Missense_Mutation	SNP	T	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:158980311T>A	uc002tzo.2	+	c.886T>A	c.(886-888)TTA>ATA	p.L296I	UPP2_uc002tzp.2_Missense_Mutation_p.L239I	NM_001135098	NP_001128570	O95045	UPP2_HUMAN	uridine phosphorylase 2 isoform b	239					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity				0														0.273381	97.891785	104.323041	38	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158980311	158980311	17574	2	T	A	A	A	777	60	UPP2	3	3
XIRP2	129446	broad.mit.edu	37	2	168099691	168099691	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168099691G>T	uc002udx.2	+	c.1789G>T	c.(1789-1791)GGT>TGT	p.G597C	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.G422C|XIRP2_uc010fpq.2_Missense_Mutation_p.G375C|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	422					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.320388	89.264316	92.202922	33	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168099691	168099691	18011	2	G	T	T	T	455	35	XIRP2	2	2
TTN	7273	broad.mit.edu	37	2	179398197	179398197	+	Missense_Mutation	SNP	A	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179398197A>G	uc010zfg.1	-	c.95441T>C	c.(95440-95442)TTT>TCT	p.F31814S	TTN_uc010zfh.1_Missense_Mutation_p.F25509S|TTN_uc010zfi.1_Missense_Mutation_p.F25442S|TTN_uc010zfj.1_Missense_Mutation_p.F25317S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	123										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				0.390244	107.186565	108.050236	32	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179398197	179398197	17290	2	A	G	G	G	13	1	TTN	4	4
TTN	7273	broad.mit.edu	37	2	179629388	179629388	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179629388C>A	uc010zfg.1	-	c.9854G>T	c.(9853-9855)TGC>TTC	p.C3285F	TTN_uc010zfh.1_Missense_Mutation_p.C3239F|TTN_uc010zfi.1_Missense_Mutation_p.C3239F|TTN_uc010zfj.1_Missense_Mutation_p.C3239F|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Missense_Mutation_p.C3285F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3285										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				0.373832	225.326972	228.324994	80	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179629388	179629388	17290	2	C	A	A	A	325	25	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179642042	179642042	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179642042C>A	uc010zfg.1	-	c.4648G>T	c.(4648-4650)GTG>TTG	p.V1550L	TTN_uc010zfh.1_Missense_Mutation_p.V1504L|TTN_uc010zfi.1_Missense_Mutation_p.V1504L|TTN_uc010zfj.1_Missense_Mutation_p.V1504L|TTN_uc002unb.2_Missense_Mutation_p.V1550L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1550										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				0.336957	86.691481	88.857266	31	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179642042	179642042	17290	2	C	A	A	A	221	17	TTN	2	2
COL3A1	1281	broad.mit.edu	37	2	189875383	189875383	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:189875383G>T	uc002uqj.1	+	c.4021G>T	c.(4021-4023)GGC>TGC	p.G1341C		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	1341	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)					1079				0.287425	134.036509	140.801482	48	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189875383	189875383	3826	2	G	T	T	T	507	39	COL3A1	1	1
STAT1	6772	broad.mit.edu	37	2	191841713	191841713	+	Missense_Mutation	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:191841713C>T	uc002usj.2	-	c.1912G>A	c.(1912-1914)GAA>AAA	p.E638K	STAT1_uc010fse.1_Missense_Mutation_p.E638K|STAT1_uc002usk.2_Missense_Mutation_p.E638K|STAT1_uc002usl.2_Missense_Mutation_p.E640K	NM_007315	NP_009330	P42224	STAT1_HUMAN	signal transducer and activator of transcription	638	SH2.				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(2)|central_nervous_system(2)|ovary(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)				p.E638*(HEC251-Tumor)	350				0.128205	21.053741	36.806352	15	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	191841713	191841713	15784	2	C	T	T	T	416	32	STAT1	2	2
MYO1B	4430	broad.mit.edu	37	2	192257838	192257838	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:192257838G>T	uc010fsg.2	+	c.2116G>T	c.(2116-2118)GAC>TAC	p.D706Y	MYO1B_uc002usq.2_Missense_Mutation_p.D706Y|MYO1B_uc002usr.2_Missense_Mutation_p.D706Y|MYO1B_uc002usu.2_5'UTR	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	myosin IB isoform 1	706	IQ 1.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)											0.104167	4.723226	19.66017	10	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	192257838	192257838	10464	2	G	T	T	T	533	41	MYO1B	2	2
DNAH7	56171	broad.mit.edu	37	2	196718076	196718076	+	Silent	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:196718076G>T	uc002utj.3	-	c.8772C>A	c.(8770-8772)ACC>ACA	p.T2924T		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2924					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(2)	2														0.128571	11.522626	20.934498	9	61	KEEP	---	---	---	---	capture		Silent	SNP	196718076	196718076	4789	2	G	T	T	T	444	35	DNAH7	2	2
PLCL1	5334	broad.mit.edu	37	2	198950213	198950213	+	Missense_Mutation	SNP	G	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:198950213G>C	uc010fsp.2	+	c.1972G>C	c.(1972-1974)GAC>CAC	p.D658H	PLCL1_uc002uuv.3_Missense_Mutation_p.D579H	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	658	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)	1					Quinacrine(DB01103)									0.191011	44.422732	52.362569	17	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	198950213	198950213	12465	2	G	C	C	C	533	41	PLCL1	3	3
AOX1	316	broad.mit.edu	37	2	201533401	201533401	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:201533401C>A	uc002uvx.2	+	c.3673C>A	c.(3673-3675)CAG>AAG	p.Q1225K	AOX1_uc010zhf.1_Missense_Mutation_p.Q781K|AOX1_uc010fsu.2_Missense_Mutation_p.Q591K	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	1225					inflammatory response|oxidation-reduction process|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)	5					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)									0.389535	193.779485	195.620363	67	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	201533401	201533401	739	2	C	A	A	A	273	21	AOX1	2	2
ALS2CR11	151254	broad.mit.edu	37	2	202436667	202436667	+	Missense_Mutation	SNP	A	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:202436667A>G	uc002uyf.2	-	c.830T>C	c.(829-831)GTG>GCG	p.V277A	ALS2CR11_uc002uye.2_Missense_Mutation_p.V277A|ALS2CR11_uc010fti.2_Missense_Mutation_p.V277A	NM_152525	NP_689738	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	277										large_intestine(1)|ovary(1)	2														0.284091	65.136355	68.82129	25	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	202436667	202436667	555	2	A	G	G	G	78	6	ALS2CR11	4	4
NDUFS1	4719	broad.mit.edu	37	2	207003266	207003266	+	Silent	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:207003266C>A	uc010ziq.1	-	c.1377G>T	c.(1375-1377)CTG>CTT	p.L459L	NDUFS1_uc002vbe.2_Silent_p.L445L|NDUFS1_uc010zir.1_Silent_p.L409L|NDUFS1_uc010zis.1_Silent_p.L388L|NDUFS1_uc010zit.1_Silent_p.L334L|NDUFS1_uc010ziu.1_Silent_p.L329L	NM_005006	NP_004997	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1,	445					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)									0.132867	26.535413	45.244406	19	124	KEEP	---	---	---	---	capture		Silent	SNP	207003266	207003266	10690	2	C	A	A	A	262	21	NDUFS1	2	2
ERBB4	2066	broad.mit.edu	37	2	212578346	212578346	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:212578346C>A	uc002veg.1	-	c.911G>T	c.(910-912)TGT>TTT	p.C304F	ERBB4_uc002veh.1_Missense_Mutation_p.C304F|ERBB4_uc010zji.1_Missense_Mutation_p.C304F|ERBB4_uc010zjj.1_Missense_Mutation_p.C304F|ERBB4_uc010fut.1_Missense_Mutation_p.C304F	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	304	Cys-rich.|Extracellular (Potential).				cell proliferation|protein phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(12)|large_intestine(1)|breast(1)	14		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)						777	TSP Lung(8;0.080)			0.362069	60.958149	61.929655	21	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	212578346	212578346	5402	2	C	A	A	A	221	17	ERBB4	2	2
FEV	54738	broad.mit.edu	37	2	219846816	219846816	+	Missense_Mutation	SNP	T	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219846816T>A	uc002vji.1	-	c.290A>T	c.(289-291)AAC>ATC	p.N97I		NM_017521	NP_059991	Q99581	FEV_HUMAN	FEV (ETS oncogene family)	97	ETS.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity		EWSR1/FEV(10)|FUS/FEV(2)	bone(10)|soft_tissue(2)	12		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		NSCLC(198;941 2228 4658 24163 34665)				7				0.388235	87.743113	88.676699	33	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	219846816	219846816	6059	2	T	A	A	A	780	60	FEV	3	3
ESPNL	339768	broad.mit.edu	37	2	239040032	239040032	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:239040032G>T	uc002vxq.3	+	c.2677G>T	c.(2677-2679)GGC>TGC	p.G893C	ESPNL_uc010fyw.2_Missense_Mutation_p.G589C	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	espin-like	893										pancreas(1)	1		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)										0.375	18.14688	18.366037	6	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	239040032	239040032	5448	2	G	T	T	T	507	39	ESPNL	1	1
TCF23	150921	broad.mit.edu	37	2	27372190	27372190	+	Silent	SNP	A	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27372190A>T	uc010ylg.1	+	c.189A>T	c.(187-189)CGA>CGT	p.R63R		NM_175769	NP_786951	Q7RTU1	TCF23_HUMAN	transcription factor 23	63					cell differentiation|muscle organ development	nucleus	transcription regulator activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.227273	9.961053	11.465738	5	17	KEEP	---	---	---	---	capture		Silent	SNP	27372190	27372190	16218	2	A	T	T	T	132	11	TCF23	3	3
KRTCAP3	200634	broad.mit.edu	37	2	27666044	27666044	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27666044G>T	uc002rks.2	+	c.377G>T	c.(376-378)CGC>CTC	p.R126L	KRTCAP3_uc010ylr.1_Missense_Mutation_p.R126L|KRTCAP3_uc002rkt.2_Missense_Mutation_p.R108L	NM_173853	NP_776252	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	126						integral to membrane					0	Acute lymphoblastic leukemia(172;0.155)													0.32	142.192809	147.205069	56	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27666044	27666044	8902	2	G	T	T	T	494	38	KRTCAP3	1	1
FAM179A	165186	broad.mit.edu	37	2	29274652	29274652	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:29274652C>A	uc010ezl.2	+	c.2753C>A	c.(2752-2754)CCT>CAT	p.P918H	FAM179A_uc010ymm.1_Missense_Mutation_p.P863H|FAM179A_uc002rmr.3_Missense_Mutation_p.P445H	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	hypothetical protein LOC165186	918							binding			ovary(3)|skin(1)	4														0.6	9.626082	9.669911	3	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29274652	29274652	5711	2	C	A	A	A	312	24	FAM179A	2	2
ALK	238	broad.mit.edu	37	2	29551229	29551229	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:29551229C>A	uc002rmy.2	-	c.1401G>T	c.(1399-1401)GAG>GAT	p.E467D		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	467	LDL-receptor class A.|Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(191)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(14)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(200)|autonomic_ganglia(95)|soft_tissue(59)|kidney(4)|large_intestine(3)|ovary(3)|central_nervous_system(1)|breast(1)|pancreas(1)	1093	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)					777				0.351852	98.807911	100.902731	38	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29551229	29551229	528	2	C	A	A	A	415	32	ALK	2	2
TTC15	51112	broad.mit.edu	37	2	3447625	3447625	+	Missense_Mutation	SNP	T	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:3447625T>C	uc002qxm.1	+	c.1493T>C	c.(1492-1494)CTG>CCG	p.L498P	TTC15_uc002qxn.1_Missense_Mutation_p.L498P|TTC15_uc010ewm.1_Missense_Mutation_p.L498P	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	tetratricopeptide repeat domain 15	498							binding			ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)										0.280702	42.873371	45.339293	16	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3447625	3447625	17236	2	T	C	C	C	715	55	TTC15	4	4
VIT	5212	broad.mit.edu	37	2	37000953	37000953	+	Silent	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:37000953C>T	uc002rpl.2	+	c.699C>T	c.(697-699)ACC>ACT	p.T233T	VIT_uc010ynf.1_Silent_p.T162T|VIT_uc002rpm.2_Silent_p.T226T|VIT_uc010ezv.2_Silent_p.T226T|VIT_uc010ezw.2_Silent_p.T226T	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	233						proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)												0.230769	16.236138	17.963231	6	20	KEEP	---	---	---	---	capture		Silent	SNP	37000953	37000953	17738	2	C	T	T	T	301	24	VIT	2	2
EPCAM	4072	broad.mit.edu	37	2	47607038	47607038	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:47607038G>T	uc002rvw.2	+	c.872G>T	c.(871-873)GGT>GTT	p.G291V	EPCAM_uc002rvx.2_Missense_Mutation_p.G263V	NM_002354	NP_002345	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule precursor	263	Extracellular (Potential).				positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding				0														0.2	26.716834	31.702328	12	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47607038	47607038	5355	2	G	T	T	T	572	44	EPCAM	2	2
ERLEC1	27248	broad.mit.edu	37	2	54045035	54045035	+	Missense_Mutation	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:54045035G>A	uc002rxl.2	+	c.1381G>A	c.(1381-1383)GTT>ATT	p.V461I	ASB3_uc002rxi.3_Intron|ERLEC1_uc002rxm.2_Missense_Mutation_p.V435I|ERLEC1_uc002rxn.2_Missense_Mutation_p.V407I	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN	erlectin isoform 1	461					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			ovary(2)	2														0.229167	52.39592	58.856467	22	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54045035	54045035	5424	2	G	A	A	A	572	44	ERLEC1	2	2
BMP10	27302	broad.mit.edu	37	2	69098254	69098254	+	Silent	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:69098254C>A	uc002sez.1	-	c.237G>T	c.(235-237)GTG>GTT	p.V79V		NM_014482	NP_055297	O95393	BMP10_HUMAN	bone morphogenetic protein 10 preproprotein	79					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			ovary(2)	2														0.253968	117.00268	127.393137	48	141	KEEP	---	---	---	---	capture		Silent	SNP	69098254	69098254	1482	2	C	A	A	A	262	21	BMP10	2	2
GPR128	84873	broad.mit.edu	37	3	100328780	100328780	+	Missense_Mutation	SNP	T	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:100328780T>A	uc003duc.2	+	c.80T>A	c.(79-81)CTG>CAG	p.L27Q		NM_032787	NP_116176	Q96K78	GP128_HUMAN	G protein-coupled receptor 128 precursor	27	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3						Pancreas(87;185 1975 7223 18722)								0.350427	123.742744	126.050689	41	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100328780	100328780	6915	3	T	A	A	A	715	55	GPR128	3	3
STXBP5L	9515	broad.mit.edu	37	3	120973837	120973837	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:120973837G>T	uc003eec.3	+	c.1537G>T	c.(1537-1539)GAC>TAC	p.D513Y	STXBP5L_uc011bji.1_Missense_Mutation_p.D513Y	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	513					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)	7				GBM - Glioblastoma multiforme(114;0.0694)										0.260274	46.387929	50.188726	19	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120973837	120973837	15877	3	G	T	T	T	429	33	STXBP5L	2	2
CASR	846	broad.mit.edu	37	3	122002901	122002901	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:122002901C>A	uc003eew.3	+	c.2130C>A	c.(2128-2130)AAC>AAA	p.N710K	CASR_uc003eev.3_Missense_Mutation_p.N700K	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	700	Helical; Name=3; (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)									0.261194	85.272978	92.184082	35	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122002901	122002901	2801	3	C	A	A	A	233	18	CASR	2	2
SEMA5B	54437	broad.mit.edu	37	3	122631831	122631831	+	Missense_Mutation	SNP	A	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:122631831A>G	uc003efz.1	-	c.2584T>C	c.(2584-2586)TGG>CGG	p.W862R	SEMA5B_uc011bju.1_Missense_Mutation_p.W804R|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.W862R|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	862	Extracellular (Potential).|TSP type-1 3.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)						383				0.361111	37.268656	37.878266	13	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122631831	122631831	14524	3	A	G	G	G	78	6	SEMA5B	4	4
NUDT16	131870	broad.mit.edu	37	3	131101022	131101022	+	Missense_Mutation	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:131101022G>A	uc003eof.2	+	c.172G>A	c.(172-174)GAG>AAG	p.E58K	NUDT16_uc011bln.1_Missense_Mutation_p.E45K|NUDT16_uc003eog.1_Missense_Mutation_p.E58K	NM_152395	NP_689608	Q96DE0	NUD16_HUMAN	nudix-type motif 16	91	Nudix hydrolase.					nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding				0														0.288136	40.34023	42.723354	17	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131101022	131101022	11137	3	G	A	A	A	533	41	NUDT16	2	2
SR140	23350	broad.mit.edu	37	3	142757772	142757772	+	Missense_Mutation	SNP	A	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:142757772A>G	uc003evh.1	+	c.2354A>G	c.(2353-2355)CAT>CGT	p.H785R	SR140_uc003evi.1_Missense_Mutation_p.H376R|SR140_uc003evj.1_Non-coding_Transcript|SR140_uc003evk.1_Missense_Mutation_p.H784R|SR140_uc003evl.1_Missense_Mutation_p.H352R	NM_001080415	NP_001073884	O15042	SR140_HUMAN	U2-associated SR140 protein	785	Glu-rich.				RNA processing	nucleus	nucleotide binding|RNA binding				0						Colon(87;897 1320 15089 19747 35974)								0.3	8.021019	8.378448	3	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142757772	142757772	15645	3	A	G	G	G	104	8	SR140	4	4
SI	6476	broad.mit.edu	37	3	164733862	164733862	+	Missense_Mutation	SNP	G	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164733862G>C	uc003fei.2	-	c.3766C>G	c.(3766-3768)CAG>GAG	p.Q1256E		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1256	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|pancreas(1)	8		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)									0.087558	14.548472	51.895742	19	198	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164733862	164733862	14792	3	G	C	C	C	585	45	SI	3	3
MECOM	2122	broad.mit.edu	37	3	168840409	168840409	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:168840409G>T	uc011bpj.1	-	c.937C>A	c.(937-939)CAT>AAT	p.H313N	MECOM_uc010hwk.1_Missense_Mutation_p.H148N|MECOM_uc003ffj.3_Missense_Mutation_p.H189N|MECOM_uc003ffi.3_Missense_Mutation_p.H125N|MECOM_uc011bpi.1_Missense_Mutation_p.H125N|MECOM_uc003ffn.3_Missense_Mutation_p.H125N|MECOM_uc003ffk.2_Missense_Mutation_p.H125N|MECOM_uc003ffl.2_Missense_Mutation_p.H285N|MECOM_uc011bpk.1_Missense_Mutation_p.H115N|MECOM_uc010hwn.2_Missense_Mutation_p.H313N|MECOM_uc003ffm.1_Missense_Mutation_p.H189N	NM_004991	NP_004982	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus isoform c	Error:Variant_position_missing_in_Q13465_after_alignment							sequence-specific DNA binding transcription factor activity			lung(3)|skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	8										646				0.061538	-8.809911	17.272688	8	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168840409	168840409	9811	3	G	T	T	T	624	48	MECOM	2	2
SLC7A14	57709	broad.mit.edu	37	3	170216488	170216488	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:170216488C>A	uc003fgz.2	-	c.727G>T	c.(727-729)GAG>TAG	p.E243*	CLDN11_uc011bpt.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	243						integral to membrane	amino acid transmembrane transporter activity			ovary(2)|liver(1)|central_nervous_system(1)	4	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)											0.290323	66.54535	70.176301	27	66	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	170216488	170216488	15193	3	C	A	A	A	390	30	SLC7A14	5	2
TBC1D5	9779	broad.mit.edu	37	3	17469948	17469948	+	Missense_Mutation	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:17469948G>A	uc010hev.2	-	c.161C>T	c.(160-162)TCC>TTC	p.S54F	TBC1D5_uc003cbf.2_Missense_Mutation_p.S54F|TBC1D5_uc003cbe.2_Missense_Mutation_p.S54F	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5 isoform a	54						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1														0.190476	17.17374	20.936646	8	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17469948	17469948	16149	3	G	A	A	A	533	41	TBC1D5	2	2
ABCC5	10057	broad.mit.edu	37	3	183667663	183667663	+	Silent	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183667663C>A	uc003fmg.2	-	c.3105G>T	c.(3103-3105)CTG>CTT	p.L1035L	ABCC5_uc011bqt.1_Silent_p.L563L|ABCC5_uc010hxl.2_Intron	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	1035	Helical; (Potential).|ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)											0.280374	71.691225	76.341052	30	77	KEEP	---	---	---	---	capture		Silent	SNP	183667663	183667663	57	3	C	A	A	A	366	29	ABCC5	2	2
SENP2	59343	broad.mit.edu	37	3	185341817	185341817	+	Nonsense_Mutation	SNP	A	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:185341817A>T	uc003fpn.2	+	c.1558A>T	c.(1558-1560)AGA>TGA	p.R520*	SENP2_uc011brv.1_Nonsense_Mutation_p.R510*|SENP2_uc011brw.1_Nonsense_Mutation_p.R333*	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific protease 2	520	Protease.				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity				0	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)											0.258929	72.323176	78.219476	29	83	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	185341817	185341817	14533	3	A	T	T	T	36	3	SENP2	5	3
AHSG	197	broad.mit.edu	37	3	186335058	186335058	+	Silent	SNP	G	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:186335058G>C	uc003fql.3	+	c.495G>C	c.(493-495)GCG>GCC	p.A165A	AHSG_uc003fqj.2_Silent_p.A164A|AHSG_uc003fqk.3_Silent_p.A164A|AHSG_uc003fqm.3_Silent_p.A163A|AHSG_uc010hyp.2_Silent_p.A127A	NM_001622	NP_001613	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	164	Cystatin fetuin-A-type 2.			PLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQL -> MVGW QEGANHKNGAGRSQKQEMAEKMVPEVASG (in Ref. 12; AAF69649).	acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding				0	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)								OREG0015968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.171233	61.412742	76.306908	25	121	KEEP	---	---	---	---	capture		Silent	SNP	186335058	186335058	423	3	G	C	C	C	470	37	AHSG	3	3
GP5	2814	broad.mit.edu	37	3	194118069	194118069	+	Missense_Mutation	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:194118069G>A	uc003ftv.1	-	c.943C>T	c.(943-945)CGC>TGC	p.R315C		NM_004488	NP_004479	P40197	GPV_HUMAN	glycoprotein V (platelet) precursor	315	Extracellular (Potential).				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(1)	1	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)										0.291667	19.519373	20.449967	7	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	194118069	194118069	6857	3	G	A	A	A	507	39	GP5	1	1
CTNNB1	1499	broad.mit.edu	37	3	41274850	41274850	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:41274850G>T	uc010hia.1	+	c.1100G>T	c.(1099-1101)GGA>GTA	p.G367V	CTNNB1_uc003ckp.2_Missense_Mutation_p.G367V|CTNNB1_uc003ckq.2_Missense_Mutation_p.G367V|CTNNB1_uc003ckr.2_Missense_Mutation_p.G367V|CTNNB1_uc011azf.1_Missense_Mutation_p.G360V|CTNNB1_uc011azg.1_Missense_Mutation_p.G295V|CTNNB1_uc003cks.2_5'Flank|CTNNB1_uc003ckt.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	367	ARM 6.				adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|patterning of blood vessels|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|promoter binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription repressor activity			liver(787)|soft_tissue(609)|large_intestine(228)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(127)|ovary(101)|skin(97)|pancreas(91)|pituitary(81)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|adrenal_gland(49)|biliary_tract(41)|lung(33)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|salivary_gland(2)|eye(1)	3016				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	Colon(6;3 56 14213 18255)		15		237				0.3	75.136645	78.696341	30	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41274850	41274850	4175	3	G	T	T	T	533	41	CTNNB1	2	2
ZBTB47	92999	broad.mit.edu	37	3	42703101	42703101	+	Missense_Mutation	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:42703101C>T	uc003clu.1	+	c.470C>T	c.(469-471)GCC>GTC	p.A157V		NM_145166	NP_660149	Q9UFB7	ZBT47_HUMAN	zinc finger protein 651	157	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.216)										0.246377	39.66342	43.689688	17	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42703101	42703101	18135	3	C	T	T	T	338	26	ZBTB47	2	2
SETMAR	6419	broad.mit.edu	37	3	4358118	4358118	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:4358118G>T	uc011asp.1	+	c.1243G>T	c.(1243-1245)GAC>TAC	p.D415Y	SUMF1_uc003bps.1_Intron|SETMAR_uc003bpy.3_Missense_Mutation_p.D137Y|SETMAR_uc011asq.1_Missense_Mutation_p.D263Y|SETMAR_uc011asr.1_Missense_Mutation_p.D159Y|SETMAR_uc010hbx.2_Missense_Mutation_p.D210Y	NM_006515	NP_006506	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion	402	Mariner transposase Hsmar1.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			ovary(1)	1		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)										0.666667	21.053085	21.274505	6	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4358118	4358118	14629	3	G	T	T	T	481	37	SETMAR	1	1
SMARCC1	6599	broad.mit.edu	37	3	47663809	47663809	+	Missense_Mutation	SNP	C	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:47663809C>G	uc003crq.2	-	c.2669G>C	c.(2668-2670)AGA>ACA	p.R890T	SMARCC1_uc011bbc.1_Non-coding_Transcript|SMARCC1_uc011bbd.1_Missense_Mutation_p.R781T	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated	890					chromatin assembly or disassembly|chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			lung(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)										0.263415	160.274286	170.638445	54	151	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47663809	47663809	15273	3	C	G	G	G	416	32	SMARCC1	3	3
BSN	8927	broad.mit.edu	37	3	49691797	49691797	+	Missense_Mutation	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:49691797C>T	uc003cxe.3	+	c.4808C>T	c.(4807-4809)TCT>TTT	p.S1603F		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	1603					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	zinc ion binding			ovary(5)|central_nervous_system(1)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)										0.242424	37.452437	41.460924	16	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49691797	49691797	1561	3	C	T	T	T	416	32	BSN	2	2
ROBO2	6092	broad.mit.edu	37	3	77623840	77623840	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:77623840G>T	uc003dpz.2	+	c.2174G>T	c.(2173-2175)GGA>GTA	p.G725V	ROBO2_uc003dpy.3_Missense_Mutation_p.G721V|ROBO2_uc011bgj.1_Non-coding_Transcript|ROBO2_uc011bgk.1_Missense_Mutation_p.G725V	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	721	Fibronectin type-III 2.|Extracellular (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				0.308642	62.132308	64.783236	25	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77623840	77623840	13993	3	G	T	T	T	533	41	ROBO2	2	2
VGLL3	389136	broad.mit.edu	37	3	87017756	87017756	+	Missense_Mutation	SNP	G	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:87017756G>C	uc003dqn.2	-	c.921C>G	c.(919-921)AGC>AGG	p.S307R		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	colon carcinoma related protein	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription regulator activity				0	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)										0.267606	57.694981	61.155788	19	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87017756	87017756	17727	3	G	C	C	C	490	38	VGLL3	3	3
EPHA3	2042	broad.mit.edu	37	3	89391035	89391035	+	Silent	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:89391035G>T	uc003dqy.2	+	c.1101G>T	c.(1099-1101)GGG>GGT	p.G367G	EPHA3_uc003dqx.1_Silent_p.G367G|EPHA3_uc010hon.1_Non-coding_Transcript	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	367	Extracellular (Potential).|Fibronectin type-III 1.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding			lung(15)|ovary(7)|large_intestine(4)|central_nervous_system(2)|pancreas(1)	29	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)						416	TSP Lung(6;0.00050)			0.276786	79.988395	85.004108	31	81	KEEP	---	---	---	---	capture		Silent	SNP	89391035	89391035	5361	3	G	T	T	T	561	44	EPHA3	2	2
FILIP1L	11259	broad.mit.edu	37	3	99567728	99567728	+	Missense_Mutation	SNP	G	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:99567728G>C	uc003dtm.2	-	c.2792C>G	c.(2791-2793)ACG>AGG	p.T931R	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.T931R|FILIP1L_uc010hpf.2_Missense_Mutation_p.T507R|FILIP1L_uc010hpg.2_Missense_Mutation_p.T691R|FILIP1L_uc003dtn.2_Missense_Mutation_p.T691R|FILIP1L_uc003dtp.1_Missense_Mutation_p.T691R	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	931						cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1														0.258621	319.799721	341.218637	105	301	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99567728	99567728	6133	3	G	C	C	C	520	40	FILIP1L	3	3
ALPK1	80216	broad.mit.edu	37	4	113350384	113350384	+	Missense_Mutation	SNP	C	T	T	rs34120296		TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:113350384C>T	uc003iap.3	+	c.875C>T	c.(874-876)ACG>ATG	p.T292M	ALPK1_uc003ian.3_Missense_Mutation_p.T292M|ALPK1_uc011cfx.1_Missense_Mutation_p.T214M|ALPK1_uc003iao.3_Non-coding_Transcript|ALPK1_uc010imo.2_Missense_Mutation_p.T120M	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	292					protein phosphorylation		ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)						252				0.264706	112.461485	120.93001	45	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113350384	113350384	547	4	C	T	T	T	247	19	ALPK1	1	1
ANK2	287	broad.mit.edu	37	4	114153332	114153332	+	Missense_Mutation	SNP	T	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:114153332T>A	uc003ibe.3	+	c.400T>A	c.(400-402)TTA>ATA	p.L134I	ANK2_uc003ibd.3_Missense_Mutation_p.L113I|ANK2_uc003ibf.3_Missense_Mutation_p.L134I|ANK2_uc003ibc.2_Missense_Mutation_p.L110I|ANK2_uc011cgb.1_Missense_Mutation_p.L149I	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	134	ANK 4.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)	13		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)										0.241379	63.738815	70.819804	28	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114153332	114153332	624	4	T	A	A	A	829	64	ANK2	3	3
ANK2	287	broad.mit.edu	37	4	114274319	114274319	+	Missense_Mutation	SNP	C	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:114274319C>G	uc003ibe.3	+	c.4545C>G	c.(4543-4545)ATC>ATG	p.I1515M	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.I1530M	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1482					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)	13		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)										0.191489	70.144999	82.679806	27	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114274319	114274319	624	4	C	G	G	G	369	29	ANK2	3	3
ADAD1	132612	broad.mit.edu	37	4	123336740	123336740	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:123336740G>T	uc003ieo.2	+	c.1456G>T	c.(1456-1458)GTG>TTG	p.V486L	ADAD1_uc003iep.2_Missense_Mutation_p.V475L|ADAD1_uc003ieq.2_Missense_Mutation_p.V468L	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1	486	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0														0.26009	154.743136	166.367386	58	165	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123336740	123336740	232	4	G	T	T	T	624	48	ADAD1	2	2
FAT4	79633	broad.mit.edu	37	4	126337745	126337745	+	Missense_Mutation	SNP	G	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:126337745G>C	uc003ifj.3	+	c.6986G>C	c.(6985-6987)CGC>CCC	p.R2329P	FAT4_uc011cgp.1_Missense_Mutation_p.R627P	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2329	Extracellular (Potential).|Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(8)|pancreas(2)	10														0.299065	196.840546	204.548045	64	150	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126337745	126337745	5928	4	G	C	C	C	494	38	FAT4	3	3
PLK4	10733	broad.mit.edu	37	4	128804445	128804445	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:128804445G>T	uc003ifo.2	+	c.155G>T	c.(154-156)GGA>GTA	p.G52V	PLK4_uc011cgs.1_Intron|PLK4_uc011cgt.1_Missense_Mutation_p.G11V	NM_014264	NP_055079	O00444	PLK4_HUMAN	polo-like kinase 4	52	Protein kinase.				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|protein phosphorylation|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0						Colon(135;508 1718 19061 31832 42879)				258				0.166667	14.167545	19.226735	8	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128804445	128804445	12524	4	G	T	T	T	533	41	PLK4	2	2
GUCY1A3	2982	broad.mit.edu	37	4	156629414	156629414	+	Missense_Mutation	SNP	A	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:156629414A>G	uc003iov.2	+	c.344A>G	c.(343-345)GAA>GGA	p.E115G	GUCY1A3_uc003iou.2_Missense_Mutation_p.E115G|GUCY1A3_uc010iqc.2_Missense_Mutation_p.E115G|GUCY1A3_uc003iow.2_Missense_Mutation_p.E115G|GUCY1A3_uc010iqd.2_Missense_Mutation_p.E115G|GUCY1A3_uc003iox.2_Missense_Mutation_p.E115G|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Missense_Mutation_p.E115G|GUCY1A3_uc010iqe.2_5'UTR|GUCY1A3_uc003ipa.2_Non-coding_Transcript|GUCY1A3_uc003ipb.2_Missense_Mutation_p.E115G	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	115					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)	3	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)										0.220588	41.689464	46.575829	15	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156629414	156629414	7174	4	A	G	G	G	117	9	GUCY1A3	4	4
FAM198B	51313	broad.mit.edu	37	4	159052134	159052134	+	Missense_Mutation	SNP	C	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:159052134C>G	uc003ipq.3	-	c.1180G>C	c.(1180-1182)GGA>CGA	p.G394R	FAM198B_uc003ipp.3_Missense_Mutation_p.G386R|FAM198B_uc003ipr.3_Missense_Mutation_p.G386R	NM_001031700	NP_001026870	Q6UWH4	F198B_HUMAN	hypothetical protein LOC51313 isoform 1	386	Extracellular (Potential).					Golgi membrane|integral to membrane					0														0.170455	34.567077	43.607918	15	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159052134	159052134	5743	4	C	G	G	G	273	21	FAM198B	3	3
TKTL2	84076	broad.mit.edu	37	4	164394019	164394019	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:164394019G>T	uc003iqp.3	-	c.868C>A	c.(868-870)CCA>ACA	p.P290T		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	290						cytoplasm	metal ion binding|transketolase activity			ovary(1)|pancreas(1)	2	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)												0.197889	163.697016	195.920708	75	304	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164394019	164394019	16465	4	G	T	T	T	572	44	TKTL2	2	2
SC4MOL	6307	broad.mit.edu	37	4	166258949	166258949	+	Silent	SNP	A	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:166258949A>T	uc003ire.2	+	c.264A>T	c.(262-264)CCA>CCT	p.P88P	SC4MOL_uc010irb.2_Silent_p.P88P|SC4MOL_uc003irf.2_5'UTR	NM_006745	NP_006736	Q15800	ERG25_HUMAN	sterol-C4-methyl oxidase-like isoform 1	88					cholesterol biosynthetic process|fatty acid biosynthetic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding				0	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0875)	NADH(DB00157)									0.097826	7.903182	22.800584	9	83	KEEP	---	---	---	---	capture		Silent	SNP	166258949	166258949	14346	4	A	T	T	T	80	7	SC4MOL	3	3
GPM6A	2823	broad.mit.edu	37	4	176573023	176573023	+	Missense_Mutation	SNP	A	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:176573023A>T	uc003iuf.2	-	c.503T>A	c.(502-504)GTG>GAG	p.V168E	GPM6A_uc011ckj.1_Missense_Mutation_p.V161E|GPM6A_uc003iug.2_Missense_Mutation_p.V168E|GPM6A_uc003iuh.2_Missense_Mutation_p.V157E	NM_201591	NP_963885	P51674	GPM6A_HUMAN	glycoprotein M6A isoform 2	168	Extracellular (Potential).					cell surface|integral to membrane					0		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)										0.308411	88.898344	92.422224	33	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176573023	176573023	6889	4	A	T	T	T	78	6	GPM6A	3	3
ODZ3	55714	broad.mit.edu	37	4	183651436	183651436	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:183651436C>A	uc003ivd.1	+	c.2669C>A	c.(2668-2670)CCA>CAA	p.P890Q	ODZ3_uc003ive.1_Missense_Mutation_p.P296Q	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	890	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)										0.234043	50.195921	56.286071	22	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183651436	183651436	11241	4	C	A	A	A	273	21	ODZ3	2	2
ODZ3	55714	broad.mit.edu	37	4	183664485	183664485	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:183664485G>T	uc003ivd.1	+	c.3542G>T	c.(3541-3543)GGG>GTG	p.G1181V	ODZ3_uc003ive.1_Missense_Mutation_p.G587V	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1181	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)										0.245283	59.905013	66.166083	26	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183664485	183664485	11241	4	G	T	T	T	559	43	ODZ3	2	2
FAT1	2195	broad.mit.edu	37	4	187538952	187538952	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:187538952C>A	uc003izf.2	-	c.8788G>T	c.(8788-8790)GAT>TAT	p.D2930Y		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2930	Extracellular (Potential).|Cadherin 27.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						Colon(197;1040 2055 4143 4984 49344)								0.254438	97.550189	106.796382	43	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	187538952	187538952	5925	4	C	A	A	A	390	30	FAT1	2	2
GPR125	166647	broad.mit.edu	37	4	22390178	22390178	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:22390178C>A	uc003gqm.1	-	c.3116G>T	c.(3115-3117)AGT>ATT	p.S1039I	GPR125_uc010ieo.1_Missense_Mutation_p.S895I|GPR125_uc003gql.1_Missense_Mutation_p.S166I	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	1039	Helical; Name=7; (Potential).				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity				0		Breast(46;0.198)												0.252427	67.498826	73.233211	26	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22390178	22390178	6913	4	C	A	A	A	260	20	GPR125	2	2
HGFAC	3083	broad.mit.edu	37	4	3444869	3444869	+	Missense_Mutation	SNP	A	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:3444869A>G	uc010icw.2	+	c.391A>G	c.(391-393)AAG>GAG	p.K131E	HGFAC_uc003ghc.2_Missense_Mutation_p.K131E	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein	131	Fibronectin type-II.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)										0.185185	11.759472	14.26793	5	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3444869	3444869	7370	4	A	G	G	G	117	9	HGFAC	4	4
PDS5A	23244	broad.mit.edu	37	4	39904046	39904046	+	Missense_Mutation	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:39904046C>T	uc003guv.3	-	c.1420G>A	c.(1420-1422)GTC>ATC	p.V474I	PDS5A_uc010ifo.2_Missense_Mutation_p.V434I|PDS5A_uc003guw.3_Missense_Mutation_p.V474I	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	474					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0														0.064935	-5.491005	9.656266	5	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39904046	39904046	12112	4	C	T	T	T	221	17	PDS5A	2	2
PDGFRA	5156	broad.mit.edu	37	4	55131116	55131116	+	Missense_Mutation	SNP	C	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:55131116C>G	uc003han.3	+	c.659C>G	c.(658-660)GCT>GGT	p.A220G	PDGFRA_uc003haa.2_Intron|PDGFRA_uc003hal.2_3'UTR|PDGFRA_uc010igq.1_Missense_Mutation_p.A114G|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	220	Ig-like C2-type 3.|Extracellular (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(532)|small_intestine(40)|stomach(16)|central_nervous_system(13)|lung(9)|haematopoietic_and_lymphoid_tissue(7)|ovary(3)|skin(2)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|bone(1)	625	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	Pancreas(151;208 1913 7310 23853 37092)				1045	TSP Lung(21;0.16)			0.410526	248.794879	250.127971	78	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55131116	55131116	12082	4	C	G	G	G	364	28	PDGFRA	3	3
KDR	3791	broad.mit.edu	37	4	55961743	55961743	+	Splice_Site_SNP	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:55961743C>A	uc003has.2	-	c.2817_splice	c.e20+1	p.K939_splice	KDR_uc003hat.1_Splice_Site_SNP_p.K939_splice	NM_002253	NP_002244			kinase insert domain receptor precursor						angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|protein phosphorylation|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(9)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|ovary(2)|kidney(1)	22	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)					1022	TSP Lung(20;0.16)			0.180952	42.221027	52.220357	19	86	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	55961743	55961743	8445	4	C	A	A	A	234	18	KDR	5	2
UBA6	55236	broad.mit.edu	37	4	68534382	68534382	+	Missense_Mutation	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:68534382C>T	uc003hdg.3	-	c.680G>A	c.(679-681)GGC>GAC	p.G227D	UBA6_uc003hdi.2_Missense_Mutation_p.G227D|UBA6_uc003hdj.2_Missense_Mutation_p.G227D	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	ubiquitin-activating enzyme E1-like 2	227					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding				0														0.193878	41.468351	50.037532	19	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68534382	68534382	17389	4	C	T	T	T	338	26	UBA6	2	2
UGT2B15	7366	broad.mit.edu	37	4	69535962	69535962	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:69535962G>T	uc011cal.1	-	c.375C>A	c.(373-375)AAC>AAA	p.N125K		NM_001076	NP_001067	P54855	UDB15_HUMAN	UDP glycosyltransferase 2B15 precursor	125					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity				0														0.19195	137.720757	166.411985	62	261	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69535962	69535962	17516	4	G	T	T	T	620	48	UGT2B15	2	2
GRSF1	2926	broad.mit.edu	37	4	71691024	71691024	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:71691024C>A	uc010iia.1	-	c.1382G>T	c.(1381-1383)CGG>CTG	p.R461L	GRSF1_uc011caz.1_Missense_Mutation_p.R343L|GRSF1_uc003hfs.2_Missense_Mutation_p.R299L	NM_002092	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1 isoform 1	461	RRM 3.				mRNA polyadenylation		mRNA binding|nucleotide binding				0		all_hematologic(202;0.21)	Lung(101;0.235)											0.52381	71.657033	71.678243	22	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71691024	71691024	7089	4	C	A	A	A	299	23	GRSF1	1	1
NPFFR2	10886	broad.mit.edu	37	4	72897911	72897911	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:72897911G>T	uc003hgg.2	+	c.293G>T	c.(292-294)CGG>CTG	p.R98L	NPFFR2_uc010iig.1_5'UTR	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2 isoform 1	98	Extracellular (Potential).				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)											0.363636	31.371352	31.918743	12	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72897911	72897911	10982	4	G	T	T	T	507	39	NPFFR2	1	1
FRAS1	80144	broad.mit.edu	37	4	79402985	79402985	+	Missense_Mutation	SNP	A	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:79402985A>G	uc003hlb.2	+	c.8471A>G	c.(8470-8472)CAT>CGT	p.H2824R		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2819	Calx-beta 3.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5														0.397933	471.793076	475.311853	154	233	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79402985	79402985	6288	4	A	G	G	G	104	8	FRAS1	4	4
AGPAT9	84803	broad.mit.edu	37	4	84516068	84516068	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:84516068G>T	uc003how.2	+	c.809G>T	c.(808-810)TGG>TTG	p.W270L	AGPAT9_uc003hox.2_Missense_Mutation_p.W270L|AGPAT9_uc003hoy.2_Missense_Mutation_p.W270L	NM_032717	NP_116106	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	270					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity				0		Hepatocellular(203;0.114)												0.190647	112.053729	136.89225	53	225	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84516068	84516068	395	4	G	T	T	T	611	47	AGPAT9	2	2
FER	2241	broad.mit.edu	37	5	108281839	108281839	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:108281839G>T	uc003kop.1	+	c.1245G>T	c.(1243-1245)AAG>AAT	p.K415N	FER_uc011cvf.1_Non-coding_Transcript|FER_uc011cvg.1_Missense_Mutation_p.K240N	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	415					intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|ovary(1)|kidney(1)	4		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		Colon(146;1051 1799 9836 27344 47401)				232				0.489796	213.185573	213.199142	72	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108281839	108281839	6050	5	G	T	T	T	451	35	FER	2	2
AQPEP	206338	broad.mit.edu	37	5	115339077	115339077	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:115339077G>T	uc003kro.2	+	c.2037G>T	c.(2035-2037)AAG>AAT	p.K679N	AQPEP_uc003krp.2_Non-coding_Transcript|AQPEP_uc003krq.2_Non-coding_Transcript|AQPEP_uc003krr.2_Non-coding_Transcript|AQPEP_uc003krs.2_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	679	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0														0.104839	10.582201	29.838425	13	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115339077	115339077	845	5	G	T	T	T	451	35	AQPEP	2	2
PRRC1	133619	broad.mit.edu	37	5	126859188	126859188	+	Missense_Mutation	SNP	G	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:126859188G>C	uc003kuk.2	+	c.17G>C	c.(16-18)GGA>GCA	p.G6A	PRRC1_uc003kuj.3_Missense_Mutation_p.G6A	NM_130809	NP_570721	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	6						Golgi apparatus					0		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)										0.210526	29.067173	33.487612	12	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126859188	126859188	13053	5	G	C	C	C	533	41	PRRC1	3	3
SLC12A2	6558	broad.mit.edu	37	5	127483407	127483407	+	Missense_Mutation	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:127483407C>T	uc003kus.2	+	c.1867C>T	c.(1867-1869)CCC>TCC	p.P623S	SLC12A2_uc010jdf.2_Non-coding_Transcript|SLC12A2_uc010jdg.2_Missense_Mutation_p.P623S	NM_001046	NP_001037	P55011	S12A2_HUMAN	solute carrier family 12	623	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			ovary(2)	2		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)									0.092166	9.13027	45.47426	20	197	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127483407	127483407	14878	5	C	T	T	T	390	30	SLC12A2	2	2
FBN2	2201	broad.mit.edu	37	5	127710389	127710389	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:127710389C>A	uc003kuu.2	-	c.2027G>T	c.(2026-2028)AGT>ATT	p.S676I	FBN2_uc003kuv.2_Missense_Mutation_p.S643I	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	676	EGF-like 10; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|kidney(1)|pancreas(1)	14		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)						1552				0.127389	24.783098	46.051476	20	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127710389	127710389	5939	5	C	A	A	A	260	20	FBN2	2	2
PHF15	23338	broad.mit.edu	37	5	133909338	133909338	+	Missense_Mutation	SNP	A	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:133909338A>G	uc003kzk.2	+	c.1486A>G	c.(1486-1488)AGA>GGA	p.R496G	PHF15_uc011cxt.1_Missense_Mutation_p.R480G|PHF15_uc003kzl.2_Missense_Mutation_p.R480G|PHF15_uc003kzm.2_Missense_Mutation_p.R480G|PHF15_uc003kzn.2_Intron|PHF15_uc003kzo.1_Missense_Mutation_p.R480G|PHF15_uc003kzp.2_Missense_Mutation_p.R188G	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	PHD finger protein 15	480					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)											0.512	229.009984	229.025885	64	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133909338	133909338	12249	5	A	G	G	G	192	15	PHF15	4	4
DNAH5	1767	broad.mit.edu	37	5	13820609	13820609	+	Splice_Site_SNP	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:13820609C>A	uc003jfd.2	-	c.6688_splice	c.e41-1	p.V2230_splice		NM_001369	NP_001360			dynein, axonemal, heavy chain 5						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)													0.166667	36.621373	49.267002	20	100	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	13820609	13820609	4787	5	C	A	A	A	312	24	DNAH5	5	2
PSD2	84249	broad.mit.edu	37	5	139193210	139193210	+	Missense_Mutation	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:139193210C>T	uc003leu.1	+	c.688C>T	c.(688-690)CGC>TGC	p.R230C		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	230					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.5	48.898424	48.898424	16	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139193210	139193210	13100	5	C	T	T	T	299	23	PSD2	1	1
PCDHA3	56145	broad.mit.edu	37	5	140181953	140181953	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140181953C>A	uc003lhf.2	+	c.1171C>A	c.(1171-1173)CCC>ACC	p.P391T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.P391T	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	391	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(5)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.182609	75.481588	97.221829	42	188	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140181953	140181953	11945	5	C	A	A	A	338	26	PCDHA3	2	2
PCDHB8	56128	broad.mit.edu	37	5	140558219	140558219	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140558219G>T	uc011dai.1	+	c.604G>T	c.(604-606)GAC>TAC	p.D202Y	PCDHB16_uc003liv.2_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	202	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.219931	133.770284	154.778471	64	227	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140558219	140558219	11968	5	G	T	T	T	533	41	PCDHB8	2	2
PCDHB14	56122	broad.mit.edu	37	5	140603156	140603156	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140603156G>T	uc003ljb.2	+	c.79G>T	c.(79-81)GGT>TGT	p.G27C	PCDHB14_uc011dal.1_Intron	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	27	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			Ovarian(141;50 1831 27899 33809 37648)								0.106796	8.954006	24.757802	11	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140603156	140603156	11959	5	G	T	T	T	455	35	PCDHB14	2	2
PCDHGB1	56104	broad.mit.edu	37	5	140731096	140731096	+	Silent	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140731096G>A	uc003ljo.1	+	c.1269G>A	c.(1267-1269)AAG>AAA	p.K423K	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Silent_p.K423K	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	423	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.542373	105.310281	105.403543	32	27	KEEP	---	---	---	---	capture		Silent	SNP	140731096	140731096	11982	5	G	A	A	A	451	35	PCDHGB1	2	2
PCDHGB7	56099	broad.mit.edu	37	5	140799011	140799011	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140799011G>T	uc003lkn.1	+	c.1585G>T	c.(1585-1587)GAG>TAG	p.E529*	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_uc003lkm.2_Nonsense_Mutation_p.E529*|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7 isoform 1	529	Extracellular (Potential).|Cadherin 5.				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)											0.493056	206.610886	206.617036	71	73	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	140799011	140799011	11988	5	G	T	T	T	481	37	PCDHGB7	5	1
PCDHGA12	26025	broad.mit.edu	37	5	140812210	140812210	+	Silent	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140812210G>T	uc003lkt.1	+	c.1884G>T	c.(1882-1884)ACG>ACT	p.T628T	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_Silent_p.T628T	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	628	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)											0.15566	53.724989	77.596887	33	179	KEEP	---	---	---	---	capture		Silent	SNP	140812210	140812210	11973	5	G	T	T	T	496	39	PCDHGA12	1	1
TRIO	7204	broad.mit.edu	37	5	14461326	14461326	+	Missense_Mutation	SNP	A	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:14461326A>G	uc003jff.2	+	c.5402A>G	c.(5401-5403)AAG>AGG	p.K1801R	TRIO_uc003jfg.2_Non-coding_Transcript|TRIO_uc003jfh.1_Missense_Mutation_p.K1450R|TRIO_uc003jfi.1_Missense_Mutation_p.K104R	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1801					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|breast(2)|stomach(1)|kidney(1)	16	Lung NSC(4;0.000742)									1300				0.333333	13.496377	13.791396	4	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14461326	14461326	17102	5	A	G	G	G	39	3	TRIO	4	4
EBF1	1879	broad.mit.edu	37	5	158135059	158135059	+	Missense_Mutation	SNP	A	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:158135059A>G	uc011ddx.1	-	c.1675T>C	c.(1675-1677)TTC>CTC	p.F559L	EBF1_uc011ddw.1_Missense_Mutation_p.F426L|EBF1_uc010jip.2_Missense_Mutation_p.F558L|EBF1_uc003lxl.3_Missense_Mutation_p.F527L	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	early B-cell factor	558					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|transcription regulator activity		HMGA2/EBF1(2)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											0.470588	27.999716	28.012441	8	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158135059	158135059	5066	5	A	G	G	G	13	1	EBF1	4	4
HMMR	3161	broad.mit.edu	37	5	162909666	162909666	+	Silent	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:162909666C>T	uc003lzh.2	+	c.1404C>T	c.(1402-1404)GCC>GCT	p.A468A	HMMR_uc003lzf.2_Silent_p.A467A|HMMR_uc003lzg.2_Silent_p.A452A|HMMR_uc011dem.1_Silent_p.A381A	NM_001142556	NP_001136028	O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor isoform a	467						cell surface|cytoplasm	hyaluronic acid binding				0	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)						703				0.148936	24.583142	35.702315	14	80	KEEP	---	---	---	---	capture		Silent	SNP	162909666	162909666	7534	5	C	T	T	T	262	21	HMMR	2	2
SLIT3	6586	broad.mit.edu	37	5	168093656	168093656	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:168093656G>T	uc010jjg.2	-	c.4396C>A	c.(4396-4398)CGC>AGC	p.R1466S	SLIT3_uc003mab.2_Missense_Mutation_p.R1459S	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	1459	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)	3	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			Ovarian(29;311 847 10864 17279 24903)								0.171717	33.131494	43.201865	17	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168093656	168093656	15239	5	G	T	T	T	507	39	SLIT3	1	1
DOCK2	1794	broad.mit.edu	37	5	169494661	169494661	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:169494661G>T	uc003maf.2	+	c.4615G>T	c.(4615-4617)GTC>TTC	p.V1539F	DOCK2_uc011der.1_Non-coding_Transcript|DOCK2_uc010jjm.2_Missense_Mutation_p.V1031F|DOCK2_uc003mah.2_Missense_Mutation_p.V95F	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1539	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											0.10219	11.14126	32.761958	14	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169494661	169494661	4871	5	G	T	T	T	624	48	DOCK2	2	2
FOXI1	2299	broad.mit.edu	37	5	169533120	169533120	+	Silent	SNP	C	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:169533120C>G	uc003mai.3	+	c.159C>G	c.(157-159)GGC>GGG	p.G53G	FOXI1_uc003maj.3_Silent_p.G53G	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	forkhead box I1 isoform a	53	Pro-rich.				epidermal cell fate specification|negative regulation of gene-specific transcription from RNA polymerase II promoter|otic placode formation|pattern specification process|positive regulation of gene-specific transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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			breast(3)|central_nervous_system(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											0.181818	17.688467	21.862818	8	36	KEEP	---	---	---	---	capture		Silent	SNP	169533120	169533120	6254	5	C	G	G	G	340	27	FOXI1	3	3
TLX3	30012	broad.mit.edu	37	5	170736451	170736451	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:170736451G>T	uc003mbf.2	+	c.82G>T	c.(82-84)GAC>TAC	p.D28Y		NM_021025	NP_066305	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	28					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			Esophageal Squamous(33;43 807 3116 3348 30094)				30				0.227273	10.482266	11.971454	5	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170736451	170736451	16492	5	G	T	T	T	533	41	TLX3	2	2
HMP19	51617	broad.mit.edu	37	5	173491286	173491286	+	Nonsense_Mutation	SNP	A	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:173491286A>T	uc003mcx.2	+	c.181A>T	c.(181-183)AAG>TAG	p.K61*		NM_015980	NP_057064	Q9Y328	NSG2_HUMAN	HMP19 protein	61	Cytoplasmic (Potential).				dopamine receptor signaling pathway	cytoplasmic vesicle membrane|Golgi cisterna membrane|integral to membrane|multivesicular body membrane	dopamine receptor binding			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00925)|all_lung(126;0.0148)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)											0.44898	123.400465	123.620009	44	54	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	173491286	173491286	7537	5	A	T	T	T	117	9	HMP19	5	3
HMP19	51617	broad.mit.edu	37	5	173534364	173534364	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:173534364G>T	uc003mcx.2	+	c.372G>T	c.(370-372)CAG>CAT	p.Q124H	HMP19_uc011dfh.1_Missense_Mutation_p.R28M	NM_015980	NP_057064	Q9Y328	NSG2_HUMAN	HMP19 protein	124	Lumenal (Potential).				dopamine receptor signaling pathway	cytoplasmic vesicle membrane|Golgi cisterna membrane|integral to membrane|multivesicular body membrane	dopamine receptor binding			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00925)|all_lung(126;0.0148)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)											0.177778	43.005871	56.226665	24	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	173534364	173534364	7537	5	G	T	T	T	451	35	HMP19	2	2
CDHR2	54825	broad.mit.edu	37	5	176011426	176011426	+	Missense_Mutation	SNP	T	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:176011426T>A	uc003mem.1	+	c.2144T>A	c.(2143-2145)GTG>GAG	p.V715E	CDHR2_uc003men.1_Missense_Mutation_p.V715E	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	715	Cadherin 7.|Extracellular (Potential).				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2														0.116	31.637984	67.893383	29	221	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176011426	176011426	3248	5	T	A	A	A	767	59	CDHR2	3	3
UNC5A	90249	broad.mit.edu	37	5	176306803	176306803	+	Silent	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:176306803C>T	uc003mey.2	+	c.2445C>T	c.(2443-2445)GGC>GGT	p.G815G		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1 precursor	815	Death.|Cytoplasmic (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane					0	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.139535	14.235409	25.042218	12	74	KEEP	---	---	---	---	capture		Silent	SNP	176306803	176306803	17549	5	C	T	T	T	314	25	UNC5A	2	2
ADAMTS2	9509	broad.mit.edu	37	5	178585744	178585744	+	Missense_Mutation	SNP	A	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:178585744A>C	uc003mjw.2	-	c.1112T>G	c.(1111-1113)TTT>TGT	p.F371C	ADAMTS2_uc011dgm.1_Missense_Mutation_p.F371C	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	371	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)						1974				0.078534	3.082903	37.740139	15	176	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178585744	178585744	266	5	A	C	C	C	13	1	ADAMTS2	4	4
CDH6	1004	broad.mit.edu	37	5	31323317	31323317	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:31323317G>T	uc003jhe.1	+	c.2275G>T	c.(2275-2277)GAT>TAT	p.D759Y		NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	759	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|large_intestine(1)	5														0.201613	49.005026	59.267413	25	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31323317	31323317	3243	5	G	T	T	T	533	41	CDH6	2	2
RXFP3	51289	broad.mit.edu	37	5	33937086	33937086	+	Silent	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33937086C>A	uc003jic.1	+	c.241C>A	c.(241-243)CGG>AGG	p.R81R		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	81	Extracellular (Potential).					integral to plasma membrane	N-formyl peptide receptor activity				0														0.144068	27.332653	41.697573	17	101	KEEP	---	---	---	---	capture		Silent	SNP	33937086	33937086	14241	5	C	A	A	A	347	27	RXFP3	1	1
AMACR	23600	broad.mit.edu	37	5	33989433	33989433	+	Missense_Mutation	SNP	T	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33989433T>A	uc003jij.2	-	c.914A>T	c.(913-915)CAT>CTT	p.H305L	AMACR_uc003jig.2_Missense_Mutation_p.H305L|AMACR_uc003jih.2_3'UTR|AMACR_uc003jii.2_Missense_Mutation_p.H290L	NM_014324	NP_055139	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase isoform 1	305					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity				0														0.465116	194.296749	194.432451	60	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33989433	33989433	565	5	T	A	A	A	663	51	AMACR	3	3
PRLR	5618	broad.mit.edu	37	5	35084585	35084585	+	Missense_Mutation	SNP	G	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:35084585G>C	uc003jjm.2	-	c.360C>G	c.(358-360)GAC>GAG	p.D120E	PRLR_uc003jjg.1_Missense_Mutation_p.D120E|PRLR_uc003jjh.1_Missense_Mutation_p.D120E|PRLR_uc003jji.1_Missense_Mutation_p.D49E|PRLR_uc003jjj.1_Missense_Mutation_p.D120E|PRLR_uc003jjk.1_Missense_Mutation_p.D49E|PRLR_uc003jjl.3_Intron|PRLR_uc010iuw.1_Missense_Mutation_p.D49E	NM_000949	NP_000940	P16471	PRLR_HUMAN	prolactin receptor precursor	120	Fibronectin type-III 1.|Extracellular (Potential).				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			ovary(2)	2	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)									0.214834	233.001619	262.349848	84	307	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35084585	35084585	12974	5	G	C	C	C	516	40	PRLR	3	3
SLC1A3	6507	broad.mit.edu	37	5	36677103	36677103	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:36677103G>T	uc003jkj.3	+	c.677G>T	c.(676-678)CGA>CTA	p.R226L	SLC1A3_uc011cox.1_Missense_Mutation_p.R119L|SLC1A3_uc010iuy.2_Missense_Mutation_p.R226L	NM_004172	NP_004163	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity	226	Extracellular (Potential).				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity				0	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)									0.153226	31.245882	45.515184	19	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36677103	36677103	14929	5	G	T	T	T	481	37	SLC1A3	1	1
NUP155	9631	broad.mit.edu	37	5	37341209	37341209	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:37341209C>A	uc003jku.1	-	c.1229G>T	c.(1228-1230)AGA>ATA	p.R410I	NUP155_uc003jkt.1_Missense_Mutation_p.R351I|NUP155_uc010iuz.1_Missense_Mutation_p.R410I	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	410					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)											0.216216	34.15552	39.657587	16	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37341209	37341209	11161	5	C	A	A	A	416	32	NUP155	2	2
AHRR	57491	broad.mit.edu	37	5	434430	434430	+	Silent	SNP	G	A	A	rs111334085		TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:434430G>A	uc003jav.2	+	c.1641G>A	c.(1639-1641)CCG>CCA	p.P547P	AHRR_uc003jaw.2_Silent_p.P525P|AHRR_uc010isy.2_Silent_p.P375P|AHRR_uc010isz.2_Silent_p.P525P|AHRR_uc003jax.2_Silent_p.P288P|AHRR_uc003jay.2_Silent_p.P385P|AHRR_uc003jaz.2_Silent_p.P146P	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	arylhydrocarbon receptor repressor	529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity|transcription regulator activity			breast(2)	2			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)											0.26087	61.965273	66.722439	24	68	KEEP	---	---	---	---	capture		Silent	SNP	434430	434430	420	5	G	A	A	A	470	37	AHRR	1	1
SLC9A3	6550	broad.mit.edu	37	5	482774	482774	+	Silent	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:482774G>A	uc003jbe.2	-	c.1245C>T	c.(1243-1245)CGC>CGT	p.R415R	SLC9A3_uc011clx.1_Silent_p.R415R	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	415						cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)											0.096774	1.710881	11.811033	6	56	KEEP	---	---	---	---	capture		Silent	SNP	482774	482774	15210	5	G	A	A	A	483	38	SLC9A3	1	1
ITGA1	3672	broad.mit.edu	37	5	52211398	52211398	+	Silent	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:52211398G>T	uc003jou.2	+	c.1962G>T	c.(1960-1962)GGG>GGT	p.G654G	ITGA1_uc003jov.2_Non-coding_Transcript|ITGA1_uc003jow.2_Silent_p.G185G	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	654	Extracellular (Potential).|FG-GAP 7.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(1)|lung(1)	2		Lung NSC(810;5.05e-05)|Breast(144;0.0851)												0.335714	254.732782	261.434199	94	186	KEEP	---	---	---	---	capture		Silent	SNP	52211398	52211398	8176	5	G	T	T	T	548	43	ITGA1	2	2
KIAA0947	23379	broad.mit.edu	37	5	5461293	5461293	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:5461293G>T	uc003jdm.3	+	c.1846G>T	c.(1846-1848)GGT>TGT	p.G616C		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	616										ovary(1)|central_nervous_system(1)	2														0.219895	95.43341	109.248002	42	149	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5461293	5461293	8509	5	G	T	T	T	455	35	KIAA0947	2	2
ADAMTS6	11174	broad.mit.edu	37	5	64569202	64569202	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:64569202C>A	uc003jtp.2	-	c.1585G>T	c.(1585-1587)GGG>TGG	p.G529W	ADAMTS6_uc003jto.2_Non-coding_Transcript|ADAMTS6_uc003jtq.2_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Missense_Mutation_p.G150W	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	529	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)										0.221374	193.582955	221.697614	87	306	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64569202	64569202	271	5	C	A	A	A	286	22	ADAMTS6	2	2
FCHO2	115548	broad.mit.edu	37	5	72383455	72383455	+	Missense_Mutation	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:72383455G>A	uc003kcl.2	+	c.2285G>A	c.(2284-2286)GGA>GAA	p.G762E	FCHO2_uc011csl.1_Missense_Mutation_p.G729E|FCHO2_uc010izb.2_Missense_Mutation_p.G190E|FCHO2_uc011csn.1_Missense_Mutation_p.G190E	NM_138782	NP_620137	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2 isoform a	762										ovary(1)	1		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)										0.162963	41.264423	55.838761	22	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72383455	72383455	6025	5	G	A	A	A	533	41	FCHO2	2	2
THBS4	7060	broad.mit.edu	37	5	79373964	79373964	+	Missense_Mutation	SNP	C	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:79373964C>G	uc003kgh.2	+	c.2179C>G	c.(2179-2181)CTG>GTG	p.L727V		NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	727	TSP type-3 8.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)										0.152174	11.298409	16.625678	7	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79373964	79373964	16384	5	C	G	G	G	311	24	THBS4	3	3
THEMIS	387357	broad.mit.edu	37	6	128134882	128134882	+	Missense_Mutation	SNP	G	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:128134882G>C	uc011ebt.1	-	c.904C>G	c.(904-906)CAG>GAG	p.Q302E	THEMIS_uc010kfa.2_Missense_Mutation_p.Q205E|THEMIS_uc003qbi.2_Missense_Mutation_p.Q302E|THEMIS_uc010kfb.2_Missense_Mutation_p.Q267E	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN	thymocyte selection pathway associated isoform	302	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				ovary(2)	2														0.383648	203.955883	205.836758	61	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128134882	128134882	16388	6	G	C	C	C	624	48	THEMIS	3	3
LAMA2	3908	broad.mit.edu	37	6	129649485	129649485	+	Silent	SNP	C	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:129649485C>G	uc003qbn.2	+	c.4239C>G	c.(4237-4239)ACC>ACG	p.T1413T	LAMA2_uc003qbo.2_Silent_p.T1413T	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1413	Laminin EGF-like 14; second part.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)										0.357143	139.004284	141.523681	50	90	KEEP	---	---	---	---	capture		Silent	SNP	129649485	129649485	8929	6	C	G	G	G	275	22	LAMA2	3	3
TMEM200A	114801	broad.mit.edu	37	6	130762209	130762209	+	Silent	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:130762209G>T	uc003qca.2	+	c.642G>T	c.(640-642)TCG>TCT	p.S214S	TMEM200A_uc010kfh.2_Silent_p.S214S|TMEM200A_uc010kfi.2_Silent_p.S214S|TMEM200A_uc003qcb.2_Silent_p.S214S	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	214	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)						66				0.522727	73.528229	73.548165	23	21	KEEP	---	---	---	---	capture		Silent	SNP	130762209	130762209	16658	6	G	T	T	T	496	39	TMEM200A	1	1
MED23	9439	broad.mit.edu	37	6	131937143	131937143	+	Splice_Site_SNP	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:131937143C>A	uc003qcs.1	-	c.781_splice	c.e10-1	p.D261_splice	MED23_uc003qcq.2_Splice_Site_SNP_p.D261_splice|MED23_uc003qct.1_Splice_Site_SNP_p.D261_splice|MED23_uc011ecb.1_Splice_Site_SNP	NM_004830	NP_004821			mediator complex subunit 23 isoform a						regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity|transcription regulator activity			ovary(1)|kidney(1)	2	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)										0.340909	40.908907	41.894418	15	29	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	131937143	131937143	9830	6	C	A	A	A	312	24	MED23	5	2
TAAR2	9287	broad.mit.edu	37	6	132938808	132938808	+	Silent	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:132938808G>T	uc003qdl.1	-	c.537C>A	c.(535-537)GTC>GTA	p.V179V	TAAR2_uc010kfr.1_Silent_p.V134V	NM_001033080	NP_001028252	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2 isoform 1	179	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)										0.425	88.119265	88.514799	34	46	KEEP	---	---	---	---	capture		Silent	SNP	132938808	132938808	16011	6	G	T	T	T	418	33	TAAR2	2	2
HIVEP2	3097	broad.mit.edu	37	6	143081590	143081590	+	Silent	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:143081590G>A	uc003qjd.2	-	c.5835C>T	c.(5833-5835)TCC>TCT	p.S1945S		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	1945					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		Esophageal Squamous(107;843 1510 13293 16805 42198)								0.168224	38.678803	49.837137	18	89	KEEP	---	---	---	---	capture		Silent	SNP	143081590	143081590	7478	6	G	A	A	A	444	35	HIVEP2	2	2
SHPRH	257218	broad.mit.edu	37	6	146247376	146247376	+	Silent	SNP	T	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:146247376T>A	uc003qld.2	-	c.3285A>T	c.(3283-3285)ATA>ATT	p.I1095I	SHPRH_uc003qle.2_Silent_p.I1095I|SHPRH_uc003qlf.2_Silent_p.I1086I|SHPRH_uc003qlg.1_Silent_p.I642I|SHPRH_uc003qlh.2_Silent_p.I11I|SHPRH_uc003qli.1_Silent_p.I11I	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	1086					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)	2		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)										0.241379	83.864765	92.704213	35	110	KEEP	---	---	---	---	capture		Silent	SNP	146247376	146247376	14786	6	T	A	A	A	732	57	SHPRH	3	3
GRM1	2911	broad.mit.edu	37	6	146720744	146720744	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:146720744C>A	uc010khw.1	+	c.2569C>A	c.(2569-2571)CGC>AGC	p.R857S	GRM1_uc010khv.1_Missense_Mutation_p.R857S|GRM1_uc003qll.2_Missense_Mutation_p.R857S|GRM1_uc011edz.1_Missense_Mutation_p.R857S|GRM1_uc011eea.1_Missense_Mutation_p.R857S	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	857	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			ovary(4)|central_nervous_system(3)|large_intestine(2)	9		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)									0.245283	34.454625	37.582375	13	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146720744	146720744	7075	6	C	A	A	A	299	23	GRM1	1	1
STXBP5	134957	broad.mit.edu	37	6	147631360	147631360	+	Missense_Mutation	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:147631360C>T	uc003qlz.2	+	c.1058C>T	c.(1057-1059)ACA>ATA	p.T353I	STXBP5_uc010khz.1_Missense_Mutation_p.T353I|STXBP5_uc003qlx.2_Non-coding_Transcript|STXBP5_uc003qly.2_Missense_Mutation_p.T24I	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	353	WD 7.				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)										0.272727	57.955436	62.056613	24	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147631360	147631360	15876	6	C	T	T	T	221	17	STXBP5	2	2
STXBP5	134957	broad.mit.edu	37	6	147680270	147680270	+	Missense_Mutation	SNP	A	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:147680270A>C	uc003qlz.2	+	c.2356A>C	c.(2356-2358)ATT>CTT	p.I786L	STXBP5_uc010khz.1_Missense_Mutation_p.I750L|STXBP5_uc003qlx.2_Non-coding_Transcript|STXBP5_uc003qly.2_Missense_Mutation_p.I441L	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	786					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)										0.142857	19.805462	28.406251	10	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147680270	147680270	15876	6	A	C	C	C	104	8	STXBP5	4	4
PNLDC1	154197	broad.mit.edu	37	6	160237602	160237602	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:160237602C>A	uc003qsy.1	+	c.1088C>A	c.(1087-1089)GCG>GAG	p.A363E	PNLDC1_uc003qsx.1_Missense_Mutation_p.A352E	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain	352	Cytoplasmic (Potential).					integral to membrane|nucleus	nucleic acid binding				0		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)										0.254386	74.011681	80.261845	29	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160237602	160237602	12574	6	C	A	A	A	351	27	PNLDC1	1	1
OR2W1	26692	broad.mit.edu	37	6	29012092	29012092	+	Silent	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29012092C>A	uc003nlw.2	-	c.861G>T	c.(859-861)CCG>CCT	p.P287P		NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W,	287	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.234375	36.09149	40.223687	15	49	KEEP	---	---	---	---	capture		Silent	SNP	29012092	29012092	11438	6	C	A	A	A	340	27	OR2W1	1	1
ANKS1A	23294	broad.mit.edu	37	6	35053711	35053711	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:35053711G>T	uc003ojx.3	+	c.3301G>T	c.(3301-3303)GCA>TCA	p.A1101S	ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_Missense_Mutation_p.A642S|ANKS1A_uc010jvp.1_Missense_Mutation_p.A475S	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain	1101						cytoplasm	protein binding			ovary(3)	3														0.151515	8.65475	12.491799	5	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35053711	35053711	696	6	G	T	T	T	494	38	ANKS1A	1	1
SCUBE3	222663	broad.mit.edu	37	6	35212536	35212536	+	Silent	SNP	A	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:35212536A>G	uc003okf.1	+	c.2349A>G	c.(2347-2349)CCA>CCG	p.P783P	SCUBE3_uc003okg.1_Silent_p.P782P|SCUBE3_uc003okh.1_Silent_p.P670P	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	783					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1														0.258741	93.675187	101.248375	37	106	KEEP	---	---	---	---	capture		Silent	SNP	35212536	35212536	14429	6	A	G	G	G	80	7	SCUBE3	4	4
CAPN11	11131	broad.mit.edu	37	6	44150906	44150906	+	Missense_Mutation	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:44150906G>A	uc003owt.1	+	c.2068G>A	c.(2068-2070)GAT>AAT	p.D690N	CAPN11_uc011dvn.1_3'UTR	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	calpain 11	690	Domain IV.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			ovary(1)|breast(1)	2	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)											0.261146	109.69863	117.808054	41	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44150906	44150906	2741	6	G	A	A	A	429	33	CAPN11	2	2
DEFB112	245915	broad.mit.edu	37	6	50016257	50016257	+	Silent	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:50016257G>T	uc011dws.1	-	c.108C>A	c.(106-108)ATC>ATA	p.I36I		NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN	beta-defensin 112 precursor	36					defense response to bacterium	extracellular region				central_nervous_system(1)	1	Lung NSC(77;0.042)													0.176471	34.076308	44.153228	18	84	KEEP	---	---	---	---	capture		Silent	SNP	50016257	50016257	4578	6	G	T	T	T	577	45	DEFB112	2	2
DSP	1832	broad.mit.edu	37	6	7585490	7585490	+	Silent	SNP	G	T	T	rs35379048	by1000genomes	TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:7585490G>T	uc003mxp.1	+	c.7995G>T	c.(7993-7995)ACG>ACT	p.T2665T	DSP_uc003mxq.1_Silent_p.T2066T	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2665	Globular 2.|Plectin 15.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)	8	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)										0.452381	233.921752	234.246448	76	92	KEEP	---	---	---	---	capture		Silent	SNP	7585490	7585490	4965	6	G	T	T	T	496	39	DSP	1	1
FHL5	9457	broad.mit.edu	37	6	97052766	97052766	+	Silent	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:97052766C>T	uc003pos.1	+	c.300C>T	c.(298-300)TCC>TCT	p.S100S	FHL5_uc003pot.1_Silent_p.S100S	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	activator of cAMP-responsive element modulator	100	LIM zinc-binding 1.					nucleus	zinc ion binding			ovary(2)	2		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)										0.348214	104.187136	106.466249	39	73	KEEP	---	---	---	---	capture		Silent	SNP	97052766	97052766	6119	6	C	T	T	T	262	21	FHL5	2	2
MUC17	140453	broad.mit.edu	37	7	100677932	100677932	+	Missense_Mutation	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100677932G>A	uc003uxp.1	+	c.3235G>A	c.(3235-3237)GCC>ACC	p.A1079T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1079	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|16.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.425725	705.526254	708.184375	235	317	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100677932	100677932	10368	7	G	A	A	A	442	34	MUC17	2	2
EMID2	136227	broad.mit.edu	37	7	101183242	101183242	+	Silent	SNP	T	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:101183242T>G	uc010lhy.1	+	c.510T>G	c.(508-510)ACT>ACG	p.T170T	EMID2_uc003uyo.1_Silent_p.T172T	NM_133457	NP_597714	Q96A83	EMID2_HUMAN	EMI domain containing 2	172						collagen				ovary(1)	1	Lung NSC(181;0.215)													0.589744	72.438168	72.71726	23	16	KEEP	---	---	---	---	capture		Silent	SNP	101183242	101183242	5284	7	T	G	G	G	691	54	EMID2	4	4
CUX1	1523	broad.mit.edu	37	7	101870904	101870904	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:101870904G>T	uc003uys.3	+	c.3421G>T	c.(3421-3423)GGC>TGC	p.G1141C	CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron|CUX1_uc003uyx.3_Missense_Mutation_p.G1130C	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	1130	CUT 3.				negative regulation of transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|central_nervous_system(1)|pancreas(1)	7														0.255102	66.431071	71.761416	25	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101870904	101870904	4224	7	G	T	T	T	507	39	CUX1	1	1
RELN	5649	broad.mit.edu	37	7	103137039	103137039	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:103137039G>T	uc003vca.2	-	c.9127C>A	c.(9127-9129)CTG>ATG	p.L3043M	RELN_uc010liz.2_Missense_Mutation_p.L3043M	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	3043					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|large_intestine(2)|central_nervous_system(2)|pancreas(1)|skin(1)	14				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		NSCLC(146;835 1944 15585 22231 52158)								0.608696	226.367065	227.556111	70	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103137039	103137039	13689	7	G	T	T	T	464	36	RELN	2	2
LRRC4	64101	broad.mit.edu	37	7	127670602	127670602	+	Missense_Mutation	SNP	A	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:127670602A>G	uc003vmk.2	-	c.92T>C	c.(91-93)CTG>CCG	p.L31P	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	31						cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)										0.537415	255.982253	256.157408	79	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127670602	127670602	9372	7	A	G	G	G	91	7	LRRC4	4	4
HIPK2	28996	broad.mit.edu	37	7	139285223	139285223	+	Missense_Mutation	SNP	C	A	A	rs56132157		TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:139285223C>A	uc003vvf.3	-	c.2375G>T	c.(2374-2376)CGG>CTG	p.R792L	HIPK2_uc003vvd.3_Missense_Mutation_p.R765L	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2 isoform	792	Interaction with HMGA1 (By similarity).|Interaction with SKI and SMAD1.|Interaction with POU4F1 (By similarity).|Interaction with CTBP1 (By similarity).		R -> Q.		apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			ovary(3)|central_nervous_system(3)|skin(1)	7	Melanoma(164;0.205)									363				0.139785	18.209513	29.87994	13	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139285223	139285223	7402	7	C	A	A	A	299	23	HIPK2	1	1
PRSS1	5644	broad.mit.edu	37	7	142459828	142459828	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142459828C>A	uc003wak.2	+	c.404C>A	c.(403-405)ACT>AAT	p.T135N	TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Missense_Mutation_p.T75N	NM_002769	NP_002760	P07477	TRY1_HUMAN	protease, serine, 1 preproprotein	135	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			large_intestine(1)|central_nervous_system(1)	2	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)											0.452991	162.359578	162.584913	53	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142459828	142459828	13064	7	C	A	A	A	260	20	PRSS1	2	2
CNTNAP2	26047	broad.mit.edu	37	7	147914552	147914552	+	Silent	SNP	C	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:147914552C>G	uc003weu.1	+	c.3183C>G	c.(3181-3183)CCC>CCG	p.P1061P		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	1061	Laminin G-like 4.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)											0.292135	139.117583	146.012455	52	126	KEEP	---	---	---	---	capture		Silent	SNP	147914552	147914552	3785	7	C	G	G	G	301	24	CNTNAP2	3	3
KCNH2	3757	broad.mit.edu	37	7	150645550	150645550	+	Missense_Mutation	SNP	G	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150645550G>C	uc003wic.2	-	c.2674C>G	c.(2674-2676)CGC>GGC	p.R892G	KCNH2_uc003wib.2_Missense_Mutation_p.R552G|KCNH2_uc011kux.1_Missense_Mutation_p.R796G	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	892	Cytoplasmic (Potential).				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			ovary(1)|skin(1)	2	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GBM(137;110 1844 13671 20123 45161)				314				0.171875	23.971506	30.513427	11	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150645550	150645550	8337	7	G	C	C	C	507	39	KCNH2	3	3
DPP6	1804	broad.mit.edu	37	7	153584797	153584797	+	Missense_Mutation	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:153584797C>T	uc003wli.2	+	c.29C>T	c.(28-30)GCT>GTT	p.A10V		NM_001039350	NP_001034439	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 3	Error:Variant_position_missing_in_P42658_after_alignment					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			NSCLC(125;1384 1783 2490 7422 34254)								0.216667	29.45928	33.890106	13	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153584797	153584797	4914	7	C	T	T	T	364	28	DPP6	2	2
HTR5A	3361	broad.mit.edu	37	7	154862701	154862701	+	Missense_Mutation	SNP	C	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:154862701C>G	uc003wlu.1	+	c.92C>G	c.(91-93)CCC>CGC	p.P31R		NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	31	Extracellular (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)										0.166667	45.291503	59.920252	23	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154862701	154862701	7750	7	C	G	G	G	286	22	HTR5A	3	3
PTPRN2	5799	broad.mit.edu	37	7	157997861	157997861	+	Splice_Site_SNP	SNP	A	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:157997861A>C	uc011kwa.1	-	c.449_splice	c.e4+1	p.R150_splice	PTPRN2_uc003wno.2_Splice_Site_SNP_p.R127_splice|PTPRN2_uc003wnp.2_Splice_Site_SNP_p.R110_splice|PTPRN2_uc003wnq.2_Splice_Site_SNP_p.R127_splice|PTPRN2_uc003wnr.2_Splice_Site_SNP_p.R89_splice	NM_002847	NP_002838			protein tyrosine phosphatase, receptor type, N							integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)	6	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)										0.25	57.944003	62.710272	21	63	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	157997861	157997861	13265	7	A	C	C	C	182	14	PTPRN2	5	4
AHR	196	broad.mit.edu	37	7	17375399	17375399	+	Missense_Mutation	SNP	G	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:17375399G>C	uc011jxz.1	+	c.1149G>C	c.(1147-1149)CAG>CAC	p.Q383H	AHR_uc003stt.3_Non-coding_Transcript	NM_001621	NP_001612	P35869	AHR_HUMAN	aryl hydrocarbon receptor precursor	383	PAC.				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|promoter binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulator activity			urinary_tract(1)|kidney(1)|pancreas(1)	3	Lung NSC(10;0.0392)|all_lung(11;0.0754)													0.068493	-0.886077	13.170319	5	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17375399	17375399	419	7	G	C	C	C	425	33	AHR	3	3
PDE1C	5137	broad.mit.edu	37	7	32209435	32209435	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:32209435C>A	uc003tco.1	-	c.270G>T	c.(268-270)CAG>CAT	p.Q90H		NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	Error:Variant_position_missing_in_Q14123_after_alignment					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			central_nervous_system(1)	1			GBM - Glioblastoma multiforme(11;0.216)											0.297872	72.757739	76.194337	28	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32209435	32209435	12056	7	C	A	A	A	352	28	PDE1C	2	2
NPSR1	387129	broad.mit.edu	37	7	34867133	34867133	+	Missense_Mutation	SNP	T	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:34867133T>A	uc003teh.1	+	c.599T>A	c.(598-600)CTG>CAG	p.L200Q	AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.L200Q|NPSR1_uc010kwt.1_Missense_Mutation_p.L47Q|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.L134Q|NPSR1_uc003tei.1_Missense_Mutation_p.L200Q|NPSR1_uc010kww.1_Missense_Mutation_p.L189Q|NPSR1_uc011kar.1_Missense_Mutation_p.L134Q|AAA1_uc010kwy.2_Intron|AAA1_uc003tek.3_Intron	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	G protein-coupled receptor for asthma	200	Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			pancreas(1)|skin(1)	2					Halothane(DB01159)									0.117647	31.528436	65.738454	28	210	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34867133	34867133	11005	7	T	A	A	A	715	55	NPSR1	3	3
GLI3	2737	broad.mit.edu	37	7	42005727	42005727	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:42005727C>A	uc011kbh.1	-	c.2944G>T	c.(2944-2946)GGG>TGG	p.G982W	GLI3_uc011kbg.1_Missense_Mutation_p.G923W	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	982					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity|zinc ion binding			large_intestine(2)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)|pancreas(1)	8										806				0.333333	15.443197	15.88641	6	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42005727	42005727	6707	7	C	A	A	A	299	23	GLI3	1	1
HECW1	23072	broad.mit.edu	37	7	43447290	43447290	+	Missense_Mutation	SNP	A	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:43447290A>T	uc003tid.1	+	c.761A>T	c.(760-762)AAG>ATG	p.K254M	HECW1_uc011kbi.1_Missense_Mutation_p.K254M|HECW1_uc003tie.1_Missense_Mutation_p.K286M	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	254	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(7)|breast(2)|skin(2)|pancreas(1)|lung(1)	13										944				0.466102	161.608815	161.727298	55	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43447290	43447290	7325	7	A	T	T	T	39	3	HECW1	3	3
ABCA13	154664	broad.mit.edu	37	7	48318349	48318349	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:48318349G>T	uc003toq.2	+	c.7558G>T	c.(7558-7560)GAC>TAC	p.D2520Y	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2520					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10														0.446301	533.856989	534.911132	187	232	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48318349	48318349	32	7	G	T	T	T	533	41	ABCA13	2	2
ABCA13	154664	broad.mit.edu	37	7	48550739	48550739	+	Silent	SNP	A	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:48550739A>T	uc003toq.2	+	c.13584A>T	c.(13582-13584)ACA>ACT	p.T4528T	ABCA13_uc010kys.1_Silent_p.T1603T|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Silent_p.T258T	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	4528					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10														0.25	74.639754	81.216469	29	87	KEEP	---	---	---	---	capture		Silent	SNP	48550739	48550739	32	7	A	T	T	T	80	7	ABCA13	3	3
RBAK	57786	broad.mit.edu	37	7	5103997	5103997	+	Missense_Mutation	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:5103997C>T	uc010kss.1	+	c.910C>T	c.(910-912)CTC>TTC	p.L304F	LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.L304F	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN	RB-associated KRAB repressor	304	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription repressor activity|zinc ion binding			ovary(3)|kidney(1)|skin(1)	5		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)										0.198413	58.8978	69.569215	25	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5103997	5103997	13561	7	C	T	T	T	312	24	RBAK	2	2
SEPT14	346288	broad.mit.edu	37	7	55912411	55912411	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:55912411C>A	uc003tqz.2	-	c.176G>T	c.(175-177)GGG>GTG	p.G59V		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	septin 14	59	GTP (By similarity).				cell cycle|cell division	septin complex	GTP binding|protein binding				0	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)											0.106383	3.539607	10.772365	5	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55912411	55912411	14549	7	C	A	A	A	286	22	SEPT14	2	2
HGF	3082	broad.mit.edu	37	7	81331986	81331986	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:81331986G>T	uc003uhl.2	-	c.2098C>A	c.(2098-2100)CCA>ACA	p.P700T	HGF_uc003uhm.2_Missense_Mutation_p.P695T	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	700	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4										800				0.5	171.813464	171.813464	59	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81331986	81331986	7369	7	G	T	T	T	533	41	HGF	2	2
TFPI2	7980	broad.mit.edu	37	7	93518469	93518469	+	Missense_Mutation	SNP	T	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:93518469T>C	uc003unb.1	-	c.338A>G	c.(337-339)TAT>TGT	p.Y113C	GNGT1_uc003umx.1_Intron|TFPI2_uc003umy.1_Missense_Mutation_p.Y113C|TFPI2_uc003umz.1_Missense_Mutation_p.Y113C|TFPI2_uc003una.1_Missense_Mutation_p.Y102C|TFPI2_uc010lfg.1_Intron	NM_006528	NP_006519	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2 precursor	113	BPTI/Kunitz inhibitor 2.				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			pancreas(1)	1	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)											0.21519	138.91536	156.642864	51	186	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93518469	93518469	16337	7	T	C	C	C	637	49	TFPI2	4	4
RGS22	26166	broad.mit.edu	37	8	101075826	101075826	+	Missense_Mutation	SNP	C	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:101075826C>G	uc003yjb.1	-	c.1170G>C	c.(1168-1170)GAG>GAC	p.E390D	RGS22_uc003yja.1_Missense_Mutation_p.E209D|RGS22_uc003yjc.1_Missense_Mutation_p.E378D|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	390					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|breast(1)|central_nervous_system(1)	5			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)						p.E378E(BT474-Tumor)	790				0.114286	30.266055	55.93652	20	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101075826	101075826	13779	8	C	G	G	G	415	32	RGS22	3	3
RP1L1	94137	broad.mit.edu	37	8	10468146	10468146	+	Silent	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10468146C>A	uc003wtc.2	-	c.3462G>T	c.(3460-3462)TCG>TCT	p.S1154S		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1154					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)										0.30303	79.009487	82.439723	30	69	KEEP	---	---	---	---	capture		Silent	SNP	10468146	10468146	14012	8	C	A	A	A	392	31	RP1L1	1	1
AMAC1L2	83650	broad.mit.edu	37	8	11188891	11188891	+	Silent	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:11188891C>T	uc003wtp.1	+	c.276C>T	c.(274-276)GAC>GAT	p.D92D		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	acyl-malonyl condensing enzyme	92	DUF6 1.					integral to membrane					0			STAD - Stomach adenocarcinoma(15;0.00676)	COAD - Colon adenocarcinoma(149;0.0563)										0.183616	124.922966	158.140207	65	289	KEEP	---	---	---	---	capture		Silent	SNP	11188891	11188891	563	8	C	T	T	T	233	18	AMAC1L2	2	2
CSMD3	114788	broad.mit.edu	37	8	113421167	113421167	+	Silent	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113421167G>T	uc003ynu.2	-	c.5490C>A	c.(5488-5490)TCC>TCA	p.S1830S	CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Silent_p.S1790S|CSMD3_uc011lhx.1_Silent_p.S1726S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1830	Extracellular (Potential).|CUB 10.					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.210526	82.500135	97.230379	40	150	KEEP	---	---	---	---	capture		Silent	SNP	113421167	113421167	4087	8	G	T	T	T	548	43	CSMD3	2	2
CSMD3	114788	broad.mit.edu	37	8	113657364	113657364	+	Nonsense_Mutation	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113657364C>T	uc003ynu.2	-	c.3284G>A	c.(3283-3285)TGG>TAG	p.W1095*	CSMD3_uc003yns.2_Nonsense_Mutation_p.W367*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.W1055*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.W991*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1095	Extracellular (Potential).|CUB 6.					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.324675	70.232416	72.341525	25	52	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	113657364	113657364	4087	8	C	T	T	T	273	21	CSMD3	5	2
TRPS1	7227	broad.mit.edu	37	8	116430678	116430678	+	Silent	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:116430678C>T	uc003yny.2	-	c.2703G>A	c.(2701-2703)AGG>AGA	p.R901R	TRPS1_uc011lhy.1_Silent_p.R892R|TRPS1_uc010mcy.2_Silent_p.R888R|TRPS1_uc003ynz.2_Silent_p.R888R	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	888					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)							312				0.25	86.36595	94.314459	35	105	KEEP	---	---	---	---	capture		Silent	SNP	116430678	116430678	17144	8	C	T	T	T	337	26	TRPS1	2	2
TRPS1	7227	broad.mit.edu	37	8	116631413	116631413	+	Silent	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:116631413C>A	uc003yny.2	-	c.912G>T	c.(910-912)CTG>CTT	p.L304L	TRPS1_uc011lhy.1_Silent_p.L295L|TRPS1_uc010mcy.2_Silent_p.L291L|TRPS1_uc003ynz.2_Silent_p.L291L	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	291					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)						p.L304L(SNU245-Tumor)	312				0.296296	64.064897	67.073014	24	57	KEEP	---	---	---	---	capture		Silent	SNP	116631413	116631413	17144	8	C	A	A	A	314	25	TRPS1	2	2
COL14A1	7373	broad.mit.edu	37	8	121170441	121170441	+	Missense_Mutation	SNP	G	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:121170441G>C	uc003yox.2	+	c.161G>C	c.(160-162)AGA>ACA	p.R54T		NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	54	Fibronectin type-III 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)							1131				0.265823	61.038404	64.953157	21	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121170441	121170441	3809	8	G	C	C	C	429	33	COL14A1	3	3
COL22A1	169044	broad.mit.edu	37	8	139890364	139890364	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139890364C>A	uc003yvd.2	-	c.287G>T	c.(286-288)GGC>GTC	p.G96V		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	96	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(10)|pancreas(1)	11	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)											0.136364	4.409035	7.226857	3	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139890364	139890364	3819	8	C	A	A	A	338	26	COL22A1	2	2
ZFP41	286128	broad.mit.edu	37	8	144332252	144332252	+	Missense_Mutation	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:144332252C>T	uc003yxw.2	+	c.239C>T	c.(238-240)CCT>CTT	p.P80L	ZFP41_uc003yxv.2_Non-coding_Transcript	NM_173832	NP_776193	Q8N8Y5	ZFP41_HUMAN	zinc finger protein 41 homolog	80					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)											0.297521	104.990481	109.404042	36	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144332252	144332252	18237	8	C	T	T	T	312	24	ZFP41	2	2
FAM83H	286077	broad.mit.edu	37	8	144808840	144808840	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:144808840G>T	uc003yzk.2	-	c.2791C>A	c.(2791-2793)CCG>ACG	p.P931T	FAM83H_uc010mfk.1_Non-coding_Transcript	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	931					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)											0.25	10.166174	11.303034	5	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144808840	144808840	5866	8	G	T	T	T	546	42	FAM83H	2	2
SCRIB	23513	broad.mit.edu	37	8	144886067	144886067	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:144886067C>A	uc003yzo.1	-	c.3164G>T	c.(3163-3165)GGG>GTG	p.G1055V	SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzp.1_Missense_Mutation_p.G1055V	NM_182706	NP_874365	Q14160	SCRIB_HUMAN	scribble isoform a	1055	Interaction with ARHGEF7.|PDZ 3.				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				0.5	32.122966	32.122966	11	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144886067	144886067	14419	8	C	A	A	A	286	22	SCRIB	2	2
PLEC	5339	broad.mit.edu	37	8	144998070	144998070	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:144998070C>A	uc003zaf.1	-	c.6438G>T	c.(6436-6438)GAG>GAT	p.E2146D	PLEC_uc003zab.1_Missense_Mutation_p.E2009D|PLEC_uc003zac.1_Missense_Mutation_p.E2013D|PLEC_uc003zad.2_Missense_Mutation_p.E2009D|PLEC_uc003zae.1_Missense_Mutation_p.E1977D|PLEC_uc003zag.1_Missense_Mutation_p.E1987D|PLEC_uc003zah.2_Missense_Mutation_p.E1995D|PLEC_uc003zaj.2_Missense_Mutation_p.E2036D	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2146	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|central_nervous_system(1)	7														0.307692	10.495381	10.923833	4	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144998070	144998070	12478	8	C	A	A	A	311	24	PLEC	2	2
MAF1	84232	broad.mit.edu	37	8	145160669	145160669	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:145160669G>T	uc003zbc.1	+	c.83G>T	c.(82-84)AGG>ATG	p.R28M	SHARPIN_uc003zba.2_5'Flank|SHARPIN_uc003zbb.2_5'Flank|KIAA1875_uc003zbd.3_5'Flank	NM_032272	NP_115648	Q9H063	MAF1_HUMAN	MAF1 protein	28					negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulator activity				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)											0.328767	63.771097	65.670825	24	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145160669	145160669	9533	8	G	T	T	T	455	35	MAF1	2	2
DLGAP2	9228	broad.mit.edu	37	8	1581027	1581027	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:1581027C>A	uc003wpl.2	+	c.1385C>A	c.(1384-1386)TCC>TAC	p.S462Y	DLGAP2_uc003wpm.2_Missense_Mutation_p.S462Y	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	541					nerve-nerve synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)										0.275862	18.585164	19.898682	8	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1581027	1581027	4740	8	C	A	A	A	390	30	DLGAP2	2	2
HR	55806	broad.mit.edu	37	8	21976735	21976735	+	Silent	SNP	C	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:21976735C>G	uc003xas.2	-	c.3039G>C	c.(3037-3039)CTG>CTC	p.L1013L	HR_uc003xat.2_Silent_p.L1013L	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	1013	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)										0.186047	34.849865	42.793732	16	70	KEEP	---	---	---	---	capture		Silent	SNP	21976735	21976735	7639	8	C	G	G	G	262	21	HR	3	3
HR	55806	broad.mit.edu	37	8	21977932	21977932	+	Missense_Mutation	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:21977932G>A	uc003xas.2	-	c.2699C>T	c.(2698-2700)GCG>GTG	p.A900V	HR_uc003xat.2_Missense_Mutation_p.A900V	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	900							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)										0.252809	107.999429	117.870415	45	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21977932	21977932	7639	8	G	A	A	A	494	38	HR	1	1
PIWIL2	55124	broad.mit.edu	37	8	22175745	22175745	+	Missense_Mutation	SNP	G	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:22175745G>C	uc003xbn.2	+	c.2360G>C	c.(2359-2361)AGC>ACC	p.S787T	PIWIL2_uc011kzf.1_Missense_Mutation_p.S787T|PIWIL2_uc010ltv.2_Missense_Mutation_p.S787T	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	piwi-like 2	787	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding				0				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)										0.247191	61.105399	66.282575	22	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22175745	22175745	12382	8	G	C	C	C	442	34	PIWIL2	3	3
BIN3	55909	broad.mit.edu	37	8	22487494	22487494	+	Silent	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:22487494C>A	uc003xcl.2	-	c.321G>T	c.(319-321)GTG>GTT	p.V107V	BIN3_uc003xck.2_Silent_p.V59V|BIN3_uc010ltw.2_Silent_p.V53V	NM_018688	NP_061158	Q9NQY0	BIN3_HUMAN	bridging integrator 3	107	BAR.				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity				0		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)										0.2	6.515667	7.771907	3	12	KEEP	---	---	---	---	capture		Silent	SNP	22487494	22487494	1459	8	C	A	A	A	366	29	BIN3	2	2
RHOBTB2	23221	broad.mit.edu	37	8	22863618	22863618	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:22863618G>T	uc003xcp.2	+	c.508G>T	c.(508-510)GAC>TAC	p.D170Y	RHOBTB2_uc011kzp.1_Missense_Mutation_p.D155Y|RHOBTB2_uc003xcq.2_Missense_Mutation_p.D148Y	NM_001160036	NP_001153508	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 1	148	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)										0.246951	181.99097	201.127274	81	247	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22863618	22863618	13809	8	G	T	T	T	585	45	RHOBTB2	2	2
FBXO16	157574	broad.mit.edu	37	8	28309761	28309761	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:28309761C>A	uc003xgw.2	-	c.701G>T	c.(700-702)GGA>GTA	p.G234V	ZNF395_uc003xgt.2_5'UTR|FBXO16_uc003xgu.2_Missense_Mutation_p.G247V|FBXO16_uc003xgv.2_Missense_Mutation_p.G234V	NM_172366	NP_758954	Q8IX29	FBX16_HUMAN	F-box only protein 16	247										ovary(1)	1		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)										0.238095	36.691962	40.640424	15	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28309761	28309761	5966	8	C	A	A	A	286	22	FBXO16	2	2
TMEM66	51669	broad.mit.edu	37	8	29924385	29924385	+	Silent	SNP	A	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:29924385A>G	uc003xhs.2	-	c.750T>C	c.(748-750)TTT>TTC	p.F250F	TMEM66_uc003xht.2_Silent_p.F250F|TMEM66_uc003xhu.2_Silent_p.F214F|TMEM66_uc003xhv.2_Silent_p.F78F	NM_016127	NP_057211	Q96BY9	TMM66_HUMAN	transmembrane protein 66 precursor	250						integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)										0.257895	148.896095	158.980741	49	141	KEEP	---	---	---	---	capture		Silent	SNP	29924385	29924385	16734	8	A	G	G	G	167	13	TMEM66	4	4
NRG1	3084	broad.mit.edu	37	8	31498156	31498156	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:31498156C>A	uc003xip.2	+	c.656C>A	c.(655-657)GCG>GAG	p.A219E		NM_013962	NP_039256	Q02297	NRG1_HUMAN	neuregulin 1 isoform GGF2	602	Cytoplasmic (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)										0.3	15.542251	16.25705	6	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31498156	31498156	11052	8	C	A	A	A	351	27	NRG1	1	1
CSMD1	64478	broad.mit.edu	37	8	3432521	3432521	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:3432521C>A	uc011kwk.1	-	c.1293G>T	c.(1291-1293)CAG>CAT	p.Q431H		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	431	CUB 3.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)										0.261538	84.485016	91.178555	34	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3432521	3432521	4085	8	C	A	A	A	259	20	CSMD1	2	2
UNC5D	137970	broad.mit.edu	37	8	35606200	35606200	+	Missense_Mutation	SNP	A	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:35606200A>C	uc003xjr.1	+	c.1922A>C	c.(1921-1923)CAG>CCG	p.Q641P	UNC5D_uc003xjs.1_Missense_Mutation_p.Q636P|UNC5D_uc003xju.1_Missense_Mutation_p.Q217P	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	641	ZU5.|Cytoplasmic (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			ovary(2)|pancreas(1)	3				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)										0.344262	116.009035	118.624306	42	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35606200	35606200	17553	8	A	C	C	C	91	7	UNC5D	4	4
KCNU1	157855	broad.mit.edu	37	8	36691143	36691143	+	Missense_Mutation	SNP	C	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:36691143C>G	uc010lvw.2	+	c.1178C>G	c.(1177-1179)TCT>TGT	p.S393C	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	393	RCK N-terminal.|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)										0.140845	18.799356	27.638776	10	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36691143	36691143	8398	8	C	G	G	G	416	32	KCNU1	3	3
KCNU1	157855	broad.mit.edu	37	8	36694374	36694374	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:36694374G>T	uc010lvw.2	+	c.1429G>T	c.(1429-1431)GAA>TAA	p.E477*	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	477	RCK N-terminal.|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)										0.281081	133.812451	141.787026	52	133	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	36694374	36694374	8398	8	G	T	T	T	585	45	KCNU1	5	2
ADAM18	8749	broad.mit.edu	37	8	39581361	39581361	+	Silent	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:39581361C>A	uc003xni.2	+	c.2112C>A	c.(2110-2112)ACC>ACA	p.T704T	ADAM18_uc010lww.2_Non-coding_Transcript|ADAM18_uc010lwx.2_Silent_p.T680T	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	a disintegrin and metalloprotease domain 18	704	Helical; (Potential).				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|ovary(1)|kidney(1)|skin(1)	5		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)							493				0.239766	100.784715	111.35891	41	130	KEEP	---	---	---	---	capture		Silent	SNP	39581361	39581361	240	8	C	A	A	A	262	21	ADAM18	2	2
ANK1	286	broad.mit.edu	37	8	41551533	41551533	+	Missense_Mutation	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:41551533G>A	uc003xom.2	-	c.3538C>T	c.(3538-3540)CGG>TGG	p.R1180W	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.R455W|ANK1_uc003xoi.2_Missense_Mutation_p.R1139W|ANK1_uc003xoj.2_Missense_Mutation_p.R1139W|ANK1_uc003xok.2_Missense_Mutation_p.R1139W|ANK1_uc003xol.2_Missense_Mutation_p.R1139W	NM_001142446	NP_001135918	P16157	ANK1_HUMAN	ankyrin 1 isoform 9	1139					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)|breast(1)	8	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)											0.208333	34.014194	39.665996	15	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41551533	41551533	623	8	G	A	A	A	506	39	ANK1	1	1
ANK1	286	broad.mit.edu	37	8	41553923	41553923	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:41553923C>A	uc003xom.2	-	c.3041G>T	c.(3040-3042)AGC>ATC	p.S1014I	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.S289I|ANK1_uc003xoi.2_Missense_Mutation_p.S973I|ANK1_uc003xoj.2_Missense_Mutation_p.S973I|ANK1_uc003xok.2_Missense_Mutation_p.S973I|ANK1_uc003xol.2_Missense_Mutation_p.S973I	NM_001142446	NP_001135918	P16157	ANK1_HUMAN	ankyrin 1 isoform 9	973	ZU5.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)|breast(1)	8	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)											0.277778	77.011649	81.805661	30	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41553923	41553923	623	8	C	A	A	A	364	28	ANK1	2	2
ANK1	286	broad.mit.edu	37	8	41581079	41581079	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:41581079C>A	uc003xom.2	-	c.883G>T	c.(883-885)GGA>TGA	p.G295*	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Nonsense_Mutation_p.G262*|ANK1_uc003xoj.2_Nonsense_Mutation_p.G262*|ANK1_uc003xok.2_Nonsense_Mutation_p.G262*|ANK1_uc003xol.2_Nonsense_Mutation_p.G262*	NM_001142446	NP_001135918	P16157	ANK1_HUMAN	ankyrin 1 isoform 9	262	ANK 7.|89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)|breast(1)	8	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)											0.211538	48.18841	56.194394	22	82	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	41581079	41581079	623	8	C	A	A	A	286	22	ANK1	5	2
PRKDC	5591	broad.mit.edu	37	8	48775080	48775080	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:48775080C>A	uc003xqi.2	-	c.5773G>T	c.(5773-5775)GAG>TAG	p.E1925*	PRKDC_uc003xqj.2_Nonsense_Mutation_p.E1925*|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	1925					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of gene-specific transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				Esophageal Squamous(79;1091 1253 12329 31680 40677)				1566				0.333333	19.11716	19.634193	7	14	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	48775080	48775080	12964	8	C	A	A	A	416	32	PRKDC	5	2
TRPA1	8989	broad.mit.edu	37	8	72948572	72948572	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:72948572C>A	uc003xza.2	-	c.2506G>T	c.(2506-2508)GCA>TCA	p.A836S		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	836	Helical; Name=4; (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)									0.206897	39.854576	46.743077	18	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72948572	72948572	17128	8	C	A	A	A	364	28	TRPA1	2	2
ZFHX4	79776	broad.mit.edu	37	8	77766283	77766283	+	Missense_Mutation	SNP	G	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77766283G>C	uc003yav.2	+	c.6991G>C	c.(6991-6993)GCT>CCT	p.A2331P	ZFHX4_uc003yau.1_Missense_Mutation_p.A2376P|ZFHX4_uc003yaw.1_Missense_Mutation_p.A2331P	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2331					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)											0.277778	87.845083	92.6191	30	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77766283	77766283	18223	8	G	C	C	C	494	38	ZFHX4	3	3
ZFAND1	79752	broad.mit.edu	37	8	82615028	82615028	+	Nonsense_Mutation	SNP	T	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:82615028T>A	uc003ycj.1	-	c.709A>T	c.(709-711)AAG>TAG	p.K237*	ZFAND1_uc010lzx.1_Nonsense_Mutation_p.K230*|ZFAND1_uc003yck.1_Nonsense_Mutation_p.K130*	NM_024699	NP_078975	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	237							zinc ion binding			ovary(1)	1														0.257261	148.031263	160.910016	62	179	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	82615028	82615028	18214	8	T	A	A	A	793	61	ZFAND1	5	3
RNF20	56254	broad.mit.edu	37	9	104319803	104319803	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:104319803G>T	uc004bbn.2	+	c.2307G>T	c.(2305-2307)AAG>AAT	p.K769N		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	ring finger protein 20	769	Potential.				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|regulation of gene-specific transcription|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)	7		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)										0.306818	73.88941	76.819147	27	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104319803	104319803	13951	9	G	T	T	T	464	36	RNF20	2	2
OR13C4	138804	broad.mit.edu	37	9	107288801	107288801	+	Silent	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:107288801C>T	uc011lvn.1	-	c.690G>A	c.(688-690)TCG>TCA	p.S230S		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C,	230	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.290123	128.02628	134.381548	47	115	KEEP	---	---	---	---	capture		Silent	SNP	107288801	107288801	11342	9	C	T	T	T	288	23	OR13C4	1	1
SUSD1	64420	broad.mit.edu	37	9	114820914	114820914	+	Missense_Mutation	SNP	C	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:114820914C>T	uc004bfu.2	-	c.1903G>A	c.(1903-1905)GAT>AAT	p.D635N	SUSD1_uc010mui.2_Missense_Mutation_p.D635N|SUSD1_uc010muj.2_Missense_Mutation_p.D635N	NM_022486	NP_071931	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1 precursor	635	Extracellular (Potential).					integral to membrane	calcium ion binding				0														0.092715	3.52474	28.746658	14	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114820914	114820914	15927	9	C	T	T	T	377	29	SUSD1	2	2
PTGS1	5742	broad.mit.edu	37	9	125145835	125145835	+	Silent	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:125145835G>T	uc004bmg.1	+	c.810G>T	c.(808-810)GTG>GTT	p.V270V	PTGS1_uc011lys.1_Silent_p.V245V|PTGS1_uc010mwb.1_Silent_p.V161V|PTGS1_uc004bmf.1_Silent_p.V270V|PTGS1_uc004bmh.1_Silent_p.V161V|PTGS1_uc011lyt.1_Silent_p.V161V	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	270					cyclooxygenase pathway|hormone biosynthetic process|oxidation-reduction process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			ovary(1)	1					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)									0.275	57.433998	61.069977	22	58	KEEP	---	---	---	---	capture		Silent	SNP	125145835	125145835	13210	9	G	T	T	T	613	48	PTGS1	2	2
CAMSAP1	157922	broad.mit.edu	37	9	138713801	138713801	+	Silent	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:138713801C>A	uc004cgr.3	-	c.2706G>T	c.(2704-2706)CTG>CTT	p.L902L	CAMSAP1_uc004cgq.3_Silent_p.L792L|CAMSAP1_uc010nbg.2_Silent_p.L624L	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	902						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)										0.239521	97.69738	108.061899	40	127	KEEP	---	---	---	---	capture		Silent	SNP	138713801	138713801	2728	9	C	A	A	A	210	17	CAMSAP1	2	2
FBXW5	54461	broad.mit.edu	37	9	139836896	139836896	+	Missense_Mutation	SNP	T	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:139836896T>C	uc004cjx.2	-	c.698A>G	c.(697-699)AAC>AGC	p.N233S	FBXW5_uc010nbx.2_Non-coding_Transcript|FBXW5_uc004cjy.2_5'UTR|FBXW5_uc004cjz.2_5'UTR|C8G_uc004cka.2_5'Flank	NM_018998	NP_061871	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	233							catalytic activity|protein binding				0	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)										0.075	0.593152	15.410698	6	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139836896	139836896	6005	9	T	C	C	C	780	60	FBXW5	4	4
FREM1	158326	broad.mit.edu	37	9	14812842	14812842	+	Missense_Mutation	SNP	A	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:14812842A>T	uc003zlm.2	-	c.2861T>A	c.(2860-2862)GTT>GAT	p.V954D	FREM1_uc010mic.2_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	954	CSPG 6.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)										0.234432	150.860282	168.477339	64	209	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14812842	14812842	6291	9	A	T	T	T	26	2	FREM1	3	3
DDX58	23586	broad.mit.edu	37	9	32487951	32487951	+	Silent	SNP	G	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:32487951G>A	uc003zra.2	-	c.1204C>T	c.(1204-1206)CTG>TTG	p.L402L	DDX58_uc010mjj.2_Non-coding_Transcript|DDX58_uc010mjk.1_Silent_p.L357L|DDX58_uc011lnr.1_Silent_p.L199L|DDX58_uc010mji.2_Silent_p.L331L	NM_014314	NP_055129	O95786	DDX58_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	402	Helicase ATP-binding.				innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|response to virus	cytosol	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding			ovary(2)|liver(1)|pancreas(1)	4			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)										0.258741	95.8051	103.347767	37	106	KEEP	---	---	---	---	capture		Silent	SNP	32487951	32487951	4546	9	G	A	A	A	464	36	DDX58	2	2
SIT1	27240	broad.mit.edu	37	9	35650214	35650214	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35650214G>T	uc003zxe.1	-	c.324C>A	c.(322-324)GAC>GAA	p.D108E	SIT1_uc003zxf.1_Non-coding_Transcript	NM_014450	NP_055265	Q9Y3P8	SIT1_HUMAN	SHP2-interacting transmembrane adaptor protein	108	Cytoplasmic (Potential).				regulation of T cell activation|signal transduction	integral to plasma membrane	kinase binding|SH2 domain binding				0			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)											0.252632	61.353309	66.633076	24	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35650214	35650214	14839	9	G	T	T	T	568	44	SIT1	2	2
TLN1	7094	broad.mit.edu	37	9	35718871	35718871	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35718871C>A	uc003zxt.2	-	c.1933G>T	c.(1933-1935)GGC>TGC	p.G645C		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	645					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|cell-cell junction|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)							587				0.210526	16.578082	19.525269	8	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35718871	35718871	16477	9	C	A	A	A	286	22	TLN1	2	2
ALDH1B1	219	broad.mit.edu	37	9	38395968	38395969	+	Missense_Mutation	DNP	GA	TG	TG			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:38395968_38395969GA>TG	uc004aay.2	+	c.223_224GA>TG	c.(223-225)GAT>TGT	p.D75C		NM_000692	NP_000683	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1B1 precursor	75					carbohydrate metabolic process|oxidation-reduction process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity				0				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)									0.176829	55.268292	71.414036	29	135	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	38395968	38395969	496	9	GA	TG	TG	TG	585	45	ALDH1B1	2	2
KIAA1432	57589	broad.mit.edu	37	9	5762559	5762559	+	Missense_Mutation	SNP	A	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:5762559A>G	uc003zji.2	+	c.1774A>G	c.(1774-1776)ATT>GTT	p.I592V	KIAA1432_uc003zjh.2_Missense_Mutation_p.I592V|KIAA1432_uc003zjl.3_Missense_Mutation_p.I555V|KIAA1432_uc003zjj.1_Missense_Mutation_p.I134V	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN	connexin 43-interacting protein 150 isoform a	671						integral to membrane					0		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)										0.23301	60.749285	67.469465	24	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5762559	5762559	8542	9	A	G	G	G	104	8	KIAA1432	4	4
APBA1	320	broad.mit.edu	37	9	72082745	72082745	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:72082745C>A	uc004ahh.2	-	c.1476G>T	c.(1474-1476)AGG>AGT	p.R492S		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	492	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1														0.147059	30.103412	46.387077	20	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72082745	72082745	766	9	C	A	A	A	389	30	APBA1	2	2
TRPM3	80036	broad.mit.edu	37	9	73399169	73399169	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:73399169C>A	uc004aid.2	-	c.1000G>T	c.(1000-1002)GCA>TCA	p.A334S	TRPM3_uc004ahu.2_Missense_Mutation_p.A164S|TRPM3_uc004ahv.2_Missense_Mutation_p.A164S|TRPM3_uc004ahw.2_Missense_Mutation_p.A206S|TRPM3_uc004ahx.2_Missense_Mutation_p.A181S|TRPM3_uc004ahy.2_Missense_Mutation_p.A206S|TRPM3_uc004ahz.2_Missense_Mutation_p.A181S|TRPM3_uc004aia.2_Missense_Mutation_p.A181S|TRPM3_uc004aib.2_Missense_Mutation_p.A181S|TRPM3_uc004aic.2_Missense_Mutation_p.A334S|TRPM3_uc010mor.2_Missense_Mutation_p.A334S|TRPM3_uc004aie.2_Missense_Mutation_p.A181S|TRPM3_uc004aif.2_Missense_Mutation_p.A206S|TRPM3_uc004aig.2_Missense_Mutation_p.A181S	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	359	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(2)	7														0.347826	42.184673	43.125497	16	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73399169	73399169	17138	9	C	A	A	A	338	26	TRPM3	2	2
TMEM2	23670	broad.mit.edu	37	9	74300223	74300223	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:74300223C>A	uc011lsa.1	-	c.4042G>T	c.(4042-4044)GTG>TTG	p.V1348L	TMEM2_uc011lrz.1_Missense_Mutation_p.V341L|TMEM2_uc010mos.2_Missense_Mutation_p.V1285L|TMEM2_uc011lsb.1_Non-coding_Transcript|TMEM2_uc004aik.2_Missense_Mutation_p.V182L	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	1348						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)										0.3125	91.396258	94.895386	35	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74300223	74300223	16656	9	C	A	A	A	234	18	TMEM2	2	2
ODZ1	10178	broad.mit.edu	37	X	124097430	124097430	+	Missense_Mutation	SNP	T	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:124097430T>G	uc010nqy.2	-	c.173A>C	c.(172-174)AAT>ACT	p.N58T	ODZ1_uc011muj.1_Missense_Mutation_p.N58T|ODZ1_uc004euj.2_Missense_Mutation_p.N58T	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 1	58	Teneurin N-terminal.|Cytoplasmic (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	22										623				0.373938	432.698702	437.62862	132	221	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124097430	124097430	11239	23	T	G	G	G	676	52	ODZ1	4	4
FRMD7	90167	broad.mit.edu	37	X	131228118	131228118	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:131228118G>T	uc004ewn.2	-	c.334C>A	c.(334-336)CCA>ACA	p.P112T	FRMD7_uc011muy.1_Missense_Mutation_p.P97T	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	112	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding				0	Acute lymphoblastic leukemia(192;0.000127)													0.337349	146.735249	150.62603	56	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131228118	131228118	6305	23	G	T	T	T	533	41	FRMD7	2	2
MAGEA10	4109	broad.mit.edu	37	X	151303881	151303881	+	Missense_Mutation	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:151303881G>T	uc004ffk.2	-	c.212C>A	c.(211-213)CCA>CAA	p.P71Q	MAGEA10_uc004ffl.2_Missense_Mutation_p.P71Q	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	71											0	Acute lymphoblastic leukemia(192;6.56e-05)													0.32093	190.294376	196.421026	69	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151303881	151303881	9541	23	G	T	T	T	611	47	MAGEA10	2	2
L1CAM	3897	broad.mit.edu	37	X	153130579	153130579	+	Missense_Mutation	SNP	C	A	A			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153130579C>A	uc004fjb.2	-	c.2836G>T	c.(2836-2838)GGC>TGC	p.G946C	L1CAM_uc004fjc.2_Missense_Mutation_p.G946C|L1CAM_uc010nuo.2_Missense_Mutation_p.G941C	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	946	Extracellular (Potential).|Fibronectin type-III 4.		Missing (in HSAS).		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.380952	43.777978	44.303594	16	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153130579	153130579	8911	23	C	A	A	A	299	23	L1CAM	1	1
FLNA	2316	broad.mit.edu	37	X	153588257	153588257	+	Silent	SNP	G	C	C			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153588257G>C	uc004fkk.2	-	c.3822C>G	c.(3820-3822)GCC>GCG	p.A1274A	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Silent_p.A1274A	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	1274	Filamin 11.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	actin cytoskeleton|cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)									518				0.40566	125.178304	126.00889	43	63	KEEP	---	---	---	---	capture		Silent	SNP	153588257	153588257	6175	23	G	C	C	C	600	47	FLNA	3	3
CPXCR1	53336	broad.mit.edu	37	X	88008704	88008704	+	Missense_Mutation	SNP	C	G	G			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:88008704C>G	uc004efd.3	+	c.289C>G	c.(289-291)CCC>GCC	p.P97A	CPXCR1_uc004efc.3_Missense_Mutation_p.P97A	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	97						intracellular	zinc ion binding			ovary(3)	3														0.232558	29.327963	32.143589	10	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88008704	88008704	3975	23	C	G	G	G	390	30	CPXCR1	3	3
TGIF2LX	90316	broad.mit.edu	37	X	89177108	89177108	+	Silent	SNP	G	T	T			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:89177108G>T	uc004efe.2	+	c.24G>T	c.(22-24)CCG>CCT	p.P8P		NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	8					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.337349	73.212521	75.136162	28	55	KEEP	---	---	---	---	capture		Silent	SNP	89177108	89177108	16355	23	G	T	T	T	496	39	TGIF2LX	1	1
TSC2	7249	broad.mit.edu	37	16	2114374	2114374	+	Frame_Shift_Del	DEL	G	-	-			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2114374_2114374delG	uc002con.2	+	c.1545_1545delG	c.(1543-1545)CTGfs	p.L515fs	TSC2_uc010bsd.2_Frame_Shift_Del_p.L515fs|TSC2_uc002coo.2_Frame_Shift_Del_p.L515fs|TSC2_uc010uvv.1_Frame_Shift_Del_p.L478fs|TSC2_uc010uvw.1_Frame_Shift_Del_p.L466fs|TSC2_uc002cop.2_Frame_Shift_Del_p.L315fs	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	515					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)								1098				0.36			62	111		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	2114374	2114374	17157	16	G	-	-	-	600	47	TSC2	5	5
ZNF423	23090	broad.mit.edu	37	16	49672282	49672282	+	Frame_Shift_Del	DEL	C	-	-			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:49672282_49672282delC	uc002efs.2	-	c.781_781delG	c.(781-783)GACfs	p.D261fs	ZNF423_uc010vgn.1_Frame_Shift_Del_p.D144fs	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	261					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription activator activity|transcription repressor activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)								386				0.32			24	52		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	49672282	49672282	18491	16	C	-	-	-	390	30	ZNF423	5	5
ASTN1	460	broad.mit.edu	37	1	176927566	176927566	+	Frame_Shift_Del	DEL	C	-	-			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176927566_176927566delC	uc001glc.2	-	c.1651_1651delG	c.(1651-1653)GTGfs	p.V551fs	ASTN1_uc001glb.1_Frame_Shift_Del_p.V551fs|ASTN1_uc001gld.1_Frame_Shift_Del_p.V551fs|ASTN1_uc009wwx.1_Frame_Shift_Del_p.V551fs	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	559					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	11										849				0.32			23	50		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	176927566	176927566	1083	1	C	-	-	-	221	17	ASTN1	5	5
FTSJD2	23070	broad.mit.edu	37	6	37430722	37430722	+	Frame_Shift_Del	DEL	C	-	-			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:37430722_37430722delC	uc003ons.2	+	c.1443_1443delC	c.(1441-1443)GTCfs	p.V481fs		NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	FtsJ methyltransferase domain containing 2	481					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.30			71	162		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	37430722	37430722	6342	6	C	-	-	-	379	30	FTSJD2	5	5
NONO	4841	broad.mit.edu	37	X	70514295	70514295	+	Frame_Shift_Del	DEL	A	-	-			TCGA-44-4112-01	TCGA-44-4112-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:70514295_70514295delA	uc004dzo.2	+	c.567_567delA	c.(565-567)GGAfs	p.G189fs	BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.2_Frame_Shift_Del_p.G189fs|NONO_uc004dzp.2_Frame_Shift_Del_p.G189fs|NONO_uc011mpv.1_Frame_Shift_Del_p.G100fs|NONO_uc004dzq.2_Frame_Shift_Del_p.G58fs	NM_001145408	NP_001138880	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	189	RRM 2.|DBHS.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	ovary(2)|kidney(2)	4	Renal(35;0.156)									130				0.36			26	46		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	70514295	70514295	10937	23	A	-	-	-	106	9	NONO	5	5
