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
SEC31B	25956	broad.mit.edu	37	10	102256930	102256931	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:102256930_102256931CC>AA	uc001krc.1	-	c.2097_2098GG>TT	c.(2095-2100)TGGGCA>TGTTCA	p.699_700WA>CS	SEC31B_uc010qpo.1_Missense_Mutation_p.698_699WA>CS|SEC31B_uc001krd.1_Missense_Mutation_p.236_237WA>CS|SEC31B_uc001krf.1_Missense_Mutation_p.236_237WA>CS|SEC31B_uc001kre.1_Missense_Mutation_p.236_237WA>CS|SEC31B_uc001krg.1_Missense_Mutation_p.268_269WA>CS	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	699_700	WD 7.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)										0.414634	49.466952	49.72782	17	24	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	102256930	102256931	14485	10	CC	AA	AA	AA	338	26	SEC31B	2	2
WDR11	55717	broad.mit.edu	37	10	122630692	122630692	+	Silent	SNP	A	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:122630692A>T	uc010qtf.1	+	c.1305A>T	c.(1303-1305)GCA>GCT	p.A435A	WDR11_uc010qte.1_Intron|WDR11_uc001lfd.1_5'UTR	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	bromodomain and WD repeat domain containing 2	435						integral to membrane					0														0.2	15.442873	17.946216	6	24	KEEP	---	---	---	---	capture		Silent	SNP	122630692	122630692	17846	10	A	T	T	T	54	5	WDR11	3	3
OLAH	55301	broad.mit.edu	37	10	15103815	15103815	+	Missense_Mutation	SNP	C	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:15103815C>G	uc001int.2	+	c.415C>G	c.(415-417)CTG>GTG	p.L139V	ACBD7_uc010qby.1_Intron|OLAH_uc001inu.2_Missense_Mutation_p.L86V	NM_018324	NP_060794	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase isoform 1	86					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity				0														0.195804	73.932717	86.253757	28	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15103815	15103815	11256	10	C	G	G	G	415	32	OLAH	3	3
THNSL1	79896	broad.mit.edu	37	10	25312405	25312405	+	Missense_Mutation	SNP	G	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:25312405G>C	uc001isi.3	+	c.253G>C	c.(253-255)GAT>CAT	p.D85H	ENKUR_uc001ish.1_Intron	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1	85					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			pancreas(1)	1					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)									0.255319	63.992077	69.157794	24	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25312405	25312405	16390	10	G	C	C	C	429	33	THNSL1	3	3
LYZL1	84569	broad.mit.edu	37	10	29599112	29599112	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:29599112C>A	uc001iul.2	+	c.510C>A	c.(508-510)AAC>AAA	p.N170K		NM_032517	NP_115906	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	124					cell wall macromolecule catabolic process	extracellular region	lysozyme activity				0		Breast(68;0.203)												0.5	80.841444	80.841444	27	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29599112	29599112	9508	10	C	A	A	A	259	20	LYZL1	2	2
RET	5979	broad.mit.edu	37	10	43601846	43601846	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:43601846G>T	uc001jal.2	+	c.890G>T	c.(889-891)CGT>CTT	p.R297L	RET_uc001jak.1_Missense_Mutation_p.R297L|RET_uc010qez.1_Missense_Mutation_p.R43L	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	297	Extracellular (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development|protein phosphorylation	integral to membrane	ATP binding|calcium ion binding|transcription activator activity|transmembrane receptor protein tyrosine kinase activity			thyroid(381)|adrenal_gland(20)|lung(6)|large_intestine(5)|ovary(4)|central_nervous_system(3)|urinary_tract(1)	420		Ovarian(717;0.0423)			Sunitinib(DB01268)	Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		1		536				0.16129	10.557624	13.938958	5	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43601846	43601846	13705	10	G	T	T	T	520	40	RET	1	1
POLR3A	11128	broad.mit.edu	37	10	79777351	79777351	+	Missense_Mutation	SNP	C	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:79777351C>G	uc001jzn.2	-	c.1413G>C	c.(1411-1413)TTG>TTC	p.L471F		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	471					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)											0.264151	40.932569	43.594113	14	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79777351	79777351	12656	10	C	G	G	G	376	29	POLR3A	3	3
TUBB8	347688	broad.mit.edu	37	10	94648	94648	+	Missense_Mutation	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:94648G>A	uc001ifi.2	-	c.184C>T	c.(184-186)CGC>TGC	p.R62C	TUBB8_uc009xhe.2_Intron|TUBB8_uc010pzs.1_5'UTR	NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 isoform 1	62					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		Pancreas(192;2041 3010 9013 18103)								0.309524	37.760781	39.117702	13	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94648	94648	17316	10	G	A	A	A	507	39	TUBB8	1	1
MYOF	26509	broad.mit.edu	37	10	95116584	95116584	+	Nonsense_Mutation	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:95116584G>A	uc001kin.2	-	c.3142C>T	c.(3142-3144)CAA>TAA	p.Q1048*	MYOF_uc001kio.2_Nonsense_Mutation_p.Q1035*|MYOF_uc009xue.2_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1048	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4														0.394737	49.020304	49.387714	15	23	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	95116584	95116584	10484	10	G	A	A	A	611	47	MYOF	5	2
SLIT1	6585	broad.mit.edu	37	10	98762557	98762557	+	Missense_Mutation	SNP	T	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:98762557T>A	uc001kmw.2	-	c.4058A>T	c.(4057-4059)CAG>CTG	p.Q1353L		NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	1353	EGF-like 7.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			ovary(4)	4		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)										0.367347	55.339653	56.096692	18	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98762557	98762557	15237	10	T	A	A	A	715	55	SLIT1	3	3
GALNTL4	374378	broad.mit.edu	37	11	11314662	11314662	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:11314662G>T	uc001mjo.2	-	c.1591C>A	c.(1591-1593)CTG>ATG	p.L531M		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	531	Lumenal (Potential).|Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0				all cancers(16;3.67e-05)|Epithelial(150;0.000184)										0.235294	17.778956	19.962387	8	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11314662	11314662	6487	11	G	T	T	T	451	35	GALNTL4	2	2
MICAL2	9645	broad.mit.edu	37	11	12247751	12247751	+	Silent	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:12247751G>T	uc001mjz.2	+	c.1722G>T	c.(1720-1722)GTG>GTT	p.V574V	MICAL2_uc010rch.1_Silent_p.V574V|MICAL2_uc001mka.2_Silent_p.V574V|MICAL2_uc010rci.1_Silent_p.V574V|MICAL2_uc001mkb.2_Silent_p.V574V|MICAL2_uc001mkc.2_Silent_p.V574V|MICAL2_uc001mkd.2_Silent_p.V403V|MICAL2_uc010rcj.1_5'UTR	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	574	CH.				oxidation-reduction process	cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0				Epithelial(150;0.00552)										0.1875	18.143108	22.536285	9	39	KEEP	---	---	---	---	capture		Silent	SNP	12247751	12247751	9960	11	G	T	T	T	600	47	MICAL2	2	2
NFRKB	4798	broad.mit.edu	37	11	129751624	129751624	+	Missense_Mutation	SNP	C	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:129751624C>G	uc001qfg.2	-	c.1391G>C	c.(1390-1392)CGA>CCA	p.R464P	NFRKB_uc001qfi.2_Missense_Mutation_p.R439P|NFRKB_uc001qfh.2_Missense_Mutation_p.R462P|NFRKB_uc010sbw.1_Missense_Mutation_p.R451P	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	439					inflammatory response|transcription from RNA polymerase II promoter	nucleus	DNA binding|protease binding|specific RNA polymerase II transcription factor activity			ovary(3)	3	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)								OREG0021512	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.6	32.878317	33.00955	9	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129751624	129751624	10784	11	C	G	G	G	403	31	NFRKB	3	3
INSC	387755	broad.mit.edu	37	11	15199882	15199882	+	Silent	SNP	T	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:15199882T>A	uc001mly.2	+	c.609T>A	c.(607-609)GTT>GTA	p.V203V	INSC_uc001mlz.2_Silent_p.V156V|INSC_uc001mma.2_Silent_p.V156V|INSC_uc010rcs.1_Silent_p.V156V|INSC_uc001mmb.2_Silent_p.V156V|INSC_uc001mmc.2_Silent_p.V156V	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN	inscuteable isoform a	203					cell differentiation|nervous system development	cytoplasm	binding			ovary(2)|central_nervous_system(1)	3														0.258065	18.216336	19.84129	8	23	KEEP	---	---	---	---	capture		Silent	SNP	15199882	15199882	8065	11	T	A	A	A	808	63	INSC	3	3
KRTAP5-1	387264	broad.mit.edu	37	11	1605902	1605902	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1605902G>T	uc001ltu.1	-	c.578C>A	c.(577-579)TCC>TAC	p.S193Y	LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron	NM_001005922	NP_001005922	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	193	8 X 4 AA repeats of C-C-X-P.					keratin filament					0		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)										0.375	23.169187	23.498103	9	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1605902	1605902	8880	11	G	T	T	T	533	41	KRTAP5-1	2	2
TNNT3	7140	broad.mit.edu	37	11	1955021	1955021	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1955021C>A	uc001luu.3	+	c.242C>A	c.(241-243)GCC>GAC	p.A81D	TNNT3_uc001lun.2_Intron|TNNT3_uc001luw.3_Missense_Mutation_p.A73D|TNNT3_uc001luo.3_Missense_Mutation_p.A73D|TNNT3_uc001lup.3_Missense_Mutation_p.A79D|TNNT3_uc001luq.3_Missense_Mutation_p.A73D|TNNT3_uc001lur.2_Missense_Mutation_p.A73D|TNNT3_uc010qxf.1_Missense_Mutation_p.A79D|TNNT3_uc010qxg.1_Missense_Mutation_p.A13D	NM_006757	NP_006748	P45378	TNNT3_HUMAN	troponin T3, skeletal, fast isoform 1	92					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding				0		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;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)										0.447368	49.871847	49.963	17	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1955021	1955021	16873	11	C	A	A	A	338	26	TNNT3	2	2
CCDC73	493860	broad.mit.edu	37	11	32657332	32657332	+	Missense_Mutation	SNP	T	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:32657332T>A	uc001mtv.2	-	c.1095A>T	c.(1093-1095)TTA>TTT	p.L365F	CCDC73_uc001mtw.1_Missense_Mutation_p.L355F	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	sarcoma antigen NY-SAR-79	365	Potential.									ovary(1)	1	Breast(20;0.112)													0.357143	31.906929	32.382189	10	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32657332	32657332	2969	11	T	A	A	A	634	49	CCDC73	3	3
QSER1	79832	broad.mit.edu	37	11	32956717	32956717	+	Missense_Mutation	SNP	A	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:32956717A>T	uc001mty.2	+	c.3526A>T	c.(3526-3528)ACT>TCT	p.T1176S	QSER1_uc001mtz.1_Missense_Mutation_p.T937S|QSER1_uc001mua.2_Missense_Mutation_p.T681S	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1176										ovary(3)|central_nervous_system(2)	5	Breast(20;0.158)													0.438596	69.360191	69.548278	25	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32956717	32956717	13340	11	A	T	T	T	130	10	QSER1	3	3
C11orf41	25758	broad.mit.edu	37	11	33564735	33564735	+	Silent	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:33564735C>A	uc001mup.3	+	c.735C>A	c.(733-735)CTC>CTA	p.L245L	C11orf41_uc001mun.1_Silent_p.L245L	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	245						integral to membrane				ovary(2)	2												OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.491525	78.833093	78.837437	29	30	KEEP	---	---	---	---	capture		Silent	SNP	33564735	33564735	1679	11	C	A	A	A	379	30	C11orf41	2	2
OR4X1	390113	broad.mit.edu	37	11	48286048	48286048	+	Silent	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:48286048G>A	uc010rht.1	+	c.636G>A	c.(634-636)CTG>CTA	p.L212L		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X,	212	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2														0.323529	27.912391	28.852832	11	23	KEEP	---	---	---	---	capture		Silent	SNP	48286048	48286048	11494	11	G	A	A	A	574	45	OR4X1	2	2
OR51G2	81282	broad.mit.edu	37	11	4936466	4936466	+	Missense_Mutation	SNP	T	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4936466T>A	uc001lzr.1	-	c.428A>T	c.(427-429)AAC>ATC	p.N143I		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G,	143	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.217391	11.062489	12.756797	5	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4936466	4936466	11509	11	T	A	A	A	780	60	OR51G2	3	3
OR51A4	401666	broad.mit.edu	37	11	4967877	4967877	+	Missense_Mutation	SNP	A	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4967877A>T	uc010qys.1	-	c.454T>A	c.(454-456)TTT>ATT	p.F152I		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A,	152	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.290503	134.324823	141.442649	52	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4967877	4967877	11497	11	A	T	T	T	39	3	OR51A4	3	3
OR4A15	81328	broad.mit.edu	37	11	55135422	55135422	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55135422C>A	uc010rif.1	+	c.63C>A	c.(61-63)CAC>CAA	p.H21Q		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	21	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.243243	20.040793	22.281005	9	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55135422	55135422	11446	11	C	A	A	A	233	18	OR4A15	2	2
OR5D16	390144	broad.mit.edu	37	11	55607017	55607017	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55607017C>A	uc010rio.1	+	c.790C>A	c.(790-792)CCC>ACC	p.P264T		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D,	264	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3		all_epithelial(135;0.208)												0.265823	56.950253	60.857695	21	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55607017	55607017	11566	11	C	A	A	A	234	18	OR5D16	2	2
OR8K5	219453	broad.mit.edu	37	11	55927735	55927735	+	Missense_Mutation	SNP	C	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55927735C>G	uc010rja.1	-	c.59G>C	c.(58-60)CGG>CCG	p.R20P		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)												0.212766	41.832743	49.036837	20	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55927735	55927735	11656	11	C	G	G	G	299	23	OR8K5	3	3
OR5T3	390154	broad.mit.edu	37	11	56019896	56019896	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56019896G>T	uc010rjd.1	+	c.221G>T	c.(220-222)GGG>GTG	p.G74V		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	74	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)													0.258427	59.816325	64.501218	23	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56019896	56019896	11593	11	G	T	T	T	559	43	OR5T3	2	2
OR52B6	340980	broad.mit.edu	37	11	5602527	5602527	+	Missense_Mutation	SNP	C	A	A	rs114791744	by1000genomes	TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5602527C>A	uc010qzi.1	+	c.421C>A	c.(421-423)CGC>AGC	p.R141S	HBG2_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B,	141	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.226415	29.347935	32.937165	12	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5602527	5602527	11523	11	C	A	A	A	299	23	OR52B6	1	1
OR8J1	219477	broad.mit.edu	37	11	56128532	56128532	+	Silent	SNP	T	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56128532T>A	uc010rjh.1	+	c.810T>A	c.(808-810)ACT>ACA	p.T270T		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J,	270	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)													0.201389	70.425186	82.33458	29	115	KEEP	---	---	---	---	capture		Silent	SNP	56128532	56128532	11652	11	T	A	A	A	704	55	OR8J1	3	3
OR10Q1	219960	broad.mit.edu	37	11	57996273	57996273	+	Silent	SNP	A	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57996273A>G	uc010rkd.1	-	c.75T>C	c.(73-75)ACT>ACC	p.T25T		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q,	25	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(21;0.0589)												0.238095	63.319838	69.901048	25	80	KEEP	---	---	---	---	capture		Silent	SNP	57996273	57996273	11322	11	A	G	G	G	80	7	OR10Q1	4	4
OR52E4	390081	broad.mit.edu	37	11	5906247	5906247	+	Missense_Mutation	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5906247G>A	uc010qzs.1	+	c.725G>A	c.(724-726)TGT>TAT	p.C242Y	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E,	242	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.320388	85.062742	88.05938	33	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5906247	5906247	11526	11	G	A	A	A	624	48	OR52E4	2	2
ASRGL1	80150	broad.mit.edu	37	11	62159033	62159033	+	Missense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62159033C>T	uc001nte.3	+	c.650C>T	c.(649-651)TCA>TTA	p.S217L	ASRGL1_uc001ntf.3_Missense_Mutation_p.S217L|ASRGL1_uc001ntg.3_Missense_Mutation_p.S89L	NM_025080	NP_079356	Q7L266	ASGL1_HUMAN	asparaginase-like 1	217					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity				0					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)							OREG0021023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.3	22.760297	23.83444	9	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62159033	62159033	1079	11	C	T	T	T	377	29	ASRGL1	2	2
AHNAK	79026	broad.mit.edu	37	11	62293042	62293042	+	Silent	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62293042G>T	uc001ntl.2	-	c.8847C>A	c.(8845-8847)CCC>CCA	p.P2949P	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	2949					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)	14		Melanoma(852;0.155)												0.197309	97.905677	116.913167	44	179	KEEP	---	---	---	---	capture		Silent	SNP	62293042	62293042	417	11	G	T	T	T	600	47	AHNAK	2	2
BSCL2	26580	broad.mit.edu	37	11	62459865	62459865	+	Silent	SNP	C	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62459865C>G	uc001nut.3	-	c.846G>C	c.(844-846)GCG>GCC	p.A282A	LRRN4CL_uc001nun.2_5'Flank|BSCL2_uc001nuo.1_Silent_p.A218A|BSCL2_uc009yoc.1_Silent_p.A218A|BSCL2_uc001nup.2_Silent_p.A218A|BSCL2_uc001nuq.1_Silent_p.A218A|BSCL2_uc001nur.3_Silent_p.A282A|BSCL2_uc009yod.2_Silent_p.A282A|HNRNPUL2_uc001nuu.1_Non-coding_Transcript	NM_001130702	NP_001124174	Q96G97	BSCL2_HUMAN	seipin isoform 1	218	Lumenal (Potential).				cell death	integral to endoplasmic reticulum membrane					0														0.153846	12.259112	16.699023	6	33	KEEP	---	---	---	---	capture		Silent	SNP	62459865	62459865	1558	11	C	G	G	G	340	27	BSCL2	3	3
CNGA4	1262	broad.mit.edu	37	11	6265580	6265580	+	Nonsense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6265580G>T	uc001mco.2	+	c.1669G>T	c.(1669-1671)GGA>TGA	p.G557*	CNGA4_uc010raa.1_3'UTR|CNGA4_uc001mcn.2_3'UTR	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	557	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell		cAMP binding				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.384615	14.671628	14.823464	5	8	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	6265580	6265580	3737	11	G	T	T	T	559	43	CNGA4	5	2
SLC22A6	9356	broad.mit.edu	37	11	62747367	62747367	+	Missense_Mutation	SNP	C	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62747367C>G	uc001nwk.2	-	c.1091G>C	c.(1090-1092)GGA>GCA	p.G364A	SLC22A6_uc001nwl.2_Missense_Mutation_p.G364A|SLC22A6_uc001nwj.2_Missense_Mutation_p.G364A|SLC22A6_uc001nwm.2_Missense_Mutation_p.G364A	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	solute carrier family 22 member 6 isoform a	364	Extracellular (Potential).				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding				0														0.253731	50.143462	53.831177	17	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62747367	62747367	14955	11	C	G	G	G	390	30	SLC22A6	3	3
CCKBR	887	broad.mit.edu	37	11	6292013	6292013	+	Missense_Mutation	SNP	G	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6292013G>C	uc001mcs.2	+	c.791G>C	c.(790-792)CGA>CCA	p.R264P	CCKBR_uc001mcp.2_Missense_Mutation_p.R264P|CCKBR_uc001mcq.2_Missense_Mutation_p.R192P|CCKBR_uc001mcr.2_Missense_Mutation_p.R264P|CCKBR_uc001mct.1_Non-coding_Transcript	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	215	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception	integral to plasma membrane	1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			ovary(2)	2		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)									0.517241	51.028115	51.035782	15	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6292013	6292013	3006	11	G	C	C	C	481	37	CCKBR	3	3
NRXN2	9379	broad.mit.edu	37	11	64415750	64415750	+	Nonsense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:64415750C>T	uc001oar.2	-	c.3344G>A	c.(3343-3345)TGG>TAG	p.W1115*	NRXN2_uc001oas.2_Nonsense_Mutation_p.W1075*|NRXN2_uc001oaq.2_Nonsense_Mutation_p.W782*	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:Variant_position_missing_in_P58401_after_alignment					cell adhesion	integral to membrane				ovary(2)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	6														0.433333	152.152197	152.638124	52	68	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	64415750	64415750	11071	11	C	T	T	T	273	21	NRXN2	5	2
NAALADL1	10004	broad.mit.edu	37	11	64815849	64815849	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:64815849G>T	uc001ocn.2	-	c.1207C>A	c.(1207-1209)CGT>AGT	p.R403S	NAALADL1_uc010rnw.1_5'UTR|NAALADL1_uc009ypz.2_Non-coding_Transcript	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic	403	NAALADase.|Extracellular (Potential).				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity				0														0.148649	15.941945	24.790759	11	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64815849	64815849	10524	11	G	T	T	T	494	38	NAALADL1	1	1
SSH3	54961	broad.mit.edu	37	11	67077349	67077349	+	Missense_Mutation	SNP	T	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:67077349T>A	uc001okj.2	+	c.1319T>A	c.(1318-1320)CTG>CAG	p.L440Q	SSH3_uc001okk.2_Non-coding_Transcript|SSH3_uc001okl.2_Missense_Mutation_p.L294Q	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	slingshot homolog 3	440	Tyrosine-protein phosphatase.				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)											0.404959	146.850514	147.805065	49	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67077349	67077349	15702	11	T	A	A	A	715	55	SSH3	3	3
OR2D3	120775	broad.mit.edu	37	11	6943214	6943214	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6943214C>A	uc010rav.1	+	c.982C>A	c.(982-984)CAT>AAT	p.H328N		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D,	328	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)										0.368421	42.165916	42.733649	14	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6943214	6943214	11401	11	C	A	A	A	377	29	OR2D3	2	2
NLRP14	338323	broad.mit.edu	37	11	7059877	7059877	+	Silent	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7059877G>A	uc001mfb.1	+	c.60G>A	c.(58-60)GAG>GAA	p.E20E		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	20	DAPIN.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|lung(1)|pancreas(1)	7				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)										0.348485	72.527651	73.854488	23	43	KEEP	---	---	---	---	capture		Silent	SNP	7059877	7059877	10879	11	G	A	A	A	451	35	NLRP14	2	2
NLRP14	338323	broad.mit.edu	37	11	7083652	7083652	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7083652G>T	uc001mfb.1	+	c.2893G>T	c.(2893-2895)GGG>TGG	p.G965W		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	965	LRR 9.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|lung(1)|pancreas(1)	7				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)										0.223684	39.028389	44.370311	17	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7083652	7083652	10879	11	G	T	T	T	611	47	NLRP14	2	2
C2CD3	26005	broad.mit.edu	37	11	73748715	73748715	+	Nonsense_Mutation	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:73748715G>A	uc001ouu.2	-	c.5689C>T	c.(5689-5691)CAG>TAG	p.Q1897*	C2CD3_uc001out.2_Intron	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1897										ovary(3)|pancreas(2)	5	Breast(11;4.16e-06)													0.22	27.903053	31.509124	11	39	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	73748715	73748715	2237	11	G	A	A	A	585	45	C2CD3	5	2
SLCO2B1	11309	broad.mit.edu	37	11	74911421	74911421	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:74911421G>T	uc001owb.2	+	c.1752G>T	c.(1750-1752)ATG>ATT	p.M584I	SLCO2B1_uc010rrq.1_Missense_Mutation_p.M329I|SLCO2B1_uc010rrr.1_Missense_Mutation_p.M440I|SLCO2B1_uc010rrs.1_Missense_Mutation_p.M468I|SLCO2B1_uc001owc.2_Missense_Mutation_p.M357I|SLCO2B1_uc001owd.2_Missense_Mutation_p.M562I	NM_007256	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family,	584	Helical; Name=10; (Potential).				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			ovary(1)|breast(1)	2					Ergoloid mesylate(DB01049)									0.202899	65.252848	76.541879	28	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74911421	74911421	15224	11	G	T	T	T	598	46	SLCO2B1	2	2
LRRC32	2615	broad.mit.edu	37	11	76372429	76372429	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:76372429C>A	uc001oxq.3	-	c.208G>T	c.(208-210)GGC>TGC	p.G70C	LRRC32_uc001oxr.3_Missense_Mutation_p.G70C|LRRC32_uc010rsf.1_Missense_Mutation_p.G70C	NM_005512	NP_005503	Q14392	LRC32_HUMAN	leucine rich repeat containing 32 precursor	70	LRR 1.|Extracellular (Potential).					integral to plasma membrane					0														0.225806	31.954402	36.21173	14	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76372429	76372429	9362	11	C	A	A	A	286	22	LRRC32	2	2
PICALM	8301	broad.mit.edu	37	11	85722153	85722153	+	Nonsense_Mutation	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:85722153G>A	uc001pbm.2	-	c.685C>T	c.(685-687)CAA>TAA	p.Q229*	PICALM_uc001pbl.2_Nonsense_Mutation_p.Q229*|PICALM_uc001pbn.2_Nonsense_Mutation_p.Q229*|PICALM_uc010rtl.1_Nonsense_Mutation_p.Q178*	NM_007166	NP_009097	Q13492	PICAL_HUMAN	phosphatidylinositol-binding clathrin assembly	229					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			urinary_tract(1)|ovary(1)	2		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)								415				0.148936	12.997556	18.553182	7	40	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	85722153	85722153	12304	11	G	A	A	A	611	47	PICALM	5	2
PICALM	8301	broad.mit.edu	37	11	85722156	85722156	+	Missense_Mutation	SNP	T	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:85722156T>C	uc001pbm.2	-	c.682A>G	c.(682-684)AAC>GAC	p.N228D	PICALM_uc001pbl.2_Missense_Mutation_p.N228D|PICALM_uc001pbn.2_Missense_Mutation_p.N228D|PICALM_uc010rtl.1_Missense_Mutation_p.N177D	NM_007166	NP_009097	Q13492	PICAL_HUMAN	phosphatidylinositol-binding clathrin assembly	228					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			urinary_tract(1)|ovary(1)	2		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)								415				0.159091	15.317171	20.172676	7	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85722156	85722156	12304	11	T	C	C	C	806	62	PICALM	4	4
PRDM4	11108	broad.mit.edu	37	12	108145425	108145425	+	Missense_Mutation	SNP	G	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:108145425G>C	uc001tmp.2	-	c.893C>G	c.(892-894)TCT>TGT	p.S298C	PRDM4_uc001tmq.2_Non-coding_Transcript	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	298					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|RNA polymerase II transcription factor activity|zinc ion binding			breast(1)	1														0.26087	33.863847	36.258227	12	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108145425	108145425	12901	12	G	C	C	C	429	33	PRDM4	3	3
TBX5	6910	broad.mit.edu	37	12	114836423	114836423	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:114836423G>T	uc001tvo.2	-	c.465C>A	c.(463-465)TTC>TTA	p.F155L	TBX5_uc001tvp.2_Missense_Mutation_p.F155L|TBX5_uc001tvq.2_Missense_Mutation_p.F105L|TBX5_uc010syv.1_Missense_Mutation_p.F155L	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	155	T-box.				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)	7	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		NSCLC(152;1358 1980 4050 23898 40356)								0.642857	28.577922	28.829372	9	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114836423	114836423	16187	12	G	T	T	T	529	41	TBX5	2	2
CHFR	55743	broad.mit.edu	37	12	133434066	133434066	+	Missense_Mutation	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:133434066G>A	uc001ulf.2	-	c.1027C>T	c.(1027-1029)CGC>TGC	p.R343C	CHFR_uc001ulc.1_Non-coding_Transcript|CHFR_uc001ule.2_Missense_Mutation_p.R331C|CHFR_uc010tbs.1_Missense_Mutation_p.R343C|CHFR_uc001uld.2_Missense_Mutation_p.R302C|CHFR_uc010tbt.1_Missense_Mutation_p.R251C	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains	343	RING-type.				cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)										0.829268	117.273311	121.507792	34	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133434066	133434066	3471	12	G	A	A	A	507	39	CHFR	1	1
ITPR2	3709	broad.mit.edu	37	12	26636704	26636704	+	Missense_Mutation	SNP	T	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:26636704T>C	uc001rhg.2	-	c.5939A>G	c.(5938-5940)AAG>AGG	p.K1980R	ITPR2_uc009zjg.1_Missense_Mutation_p.K131R	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1980	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	13	Colorectal(261;0.0847)									1600				0.251462	126.644271	136.238363	43	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26636704	26636704	8225	12	T	C	C	C	728	56	ITPR2	4	4
ITPR2	3709	broad.mit.edu	37	12	26809337	26809337	+	Nonsense_Mutation	SNP	A	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:26809337A>T	uc001rhg.2	-	c.2337T>A	c.(2335-2337)TGT>TGA	p.C779*		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	779	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	13	Colorectal(261;0.0847)									1600				0.164179	20.112007	27.264994	11	56	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	26809337	26809337	8225	12	A	T	T	T	128	10	ITPR2	5	3
CCDC91	55297	broad.mit.edu	37	12	28603339	28603339	+	Silent	SNP	A	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:28603339A>T	uc001riq.2	+	c.912A>T	c.(910-912)GTA>GTT	p.V304V	CCDC91_uc001rio.2_Silent_p.V274V|CCDC91_uc009zjk.2_Non-coding_Transcript|CCDC91_uc001rip.1_Silent_p.V304V|CCDC91_uc001rir.2_Silent_p.V142V|CCDC91_uc009zjl.2_Silent_p.V106V	NM_018318	NP_060788	Q7Z6B0	CCD91_HUMAN	GGA binding partner	304	Potential.|Homodimerization.				protein transport	Golgi apparatus|membrane				central_nervous_system(1)	1	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)													0.389313	165.710445	167.111259	51	80	KEEP	---	---	---	---	capture		Silent	SNP	28603339	28603339	2995	12	A	T	T	T	197	16	CCDC91	3	3
OVCH1	341350	broad.mit.edu	37	12	29614942	29614942	+	Splice_Site_SNP	SNP	C	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:29614942C>G	uc001rix.1	-	c.2126_splice	c.e19-1	p.D709_splice		NM_183378	NP_899234			ovochymase 1 precursor						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)													0.407895	200.321047	201.445816	62	90	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	29614942	29614942	11736	12	C	G	G	G	416	32	OVCH1	5	3
ALG10	84920	broad.mit.edu	37	12	34179132	34179132	+	Missense_Mutation	SNP	A	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:34179132A>T	uc001rlm.2	+	c.704A>T	c.(703-705)CAG>CTG	p.Q235L		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	asparagine-linked glycosylation 10 homolog	235	Cytoplasmic (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity				0	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)												0.255208	137.587453	148.02165	49	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34179132	34179132	514	12	A	T	T	T	91	7	ALG10	3	3
KDM5A	5927	broad.mit.edu	37	12	427541	427541	+	Missense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:427541C>T	uc001qif.1	-	c.2628G>A	c.(2626-2628)ATG>ATA	p.M876I	KDM5A_uc001qie.1_Missense_Mutation_p.M876I|KDM5A_uc010sdn.1_Missense_Mutation_p.M835I	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	876					chromatin modification|multicellular organismal development|oxidation-reduction process|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|transcription activator activity|zinc ion binding			skin(2)|ovary(1)	3										958				0.308411	87.329901	90.833758	33	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	427541	427541	8439	12	C	T	T	T	221	17	KDM5A	2	2
DDX23	9416	broad.mit.edu	37	12	49231325	49231325	+	Silent	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49231325C>T	uc001rsm.2	-	c.735G>A	c.(733-735)AAG>AAA	p.K245K		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	245					cis assembly of pre-catalytic spliceosome	catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			kidney(3)|ovary(1)|lung(1)	5														0.346535	105.997653	108.096234	35	66	KEEP	---	---	---	---	capture		Silent	SNP	49231325	49231325	4521	12	C	T	T	T	311	24	DDX23	2	2
ANKRD33	341405	broad.mit.edu	37	12	52282534	52282534	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52282534C>A	uc001rzd.2	+	c.328C>A	c.(328-330)CAG>AAG	p.Q110K	ANKRD33_uc001rzh.3_Missense_Mutation_p.Q110K|ANKRD33_uc001rzf.3_5'UTR|ANKRD33_uc001rze.2_5'UTR|ANKRD33_uc001rzg.3_5'UTR|ANKRD33_uc001rzi.3_5'UTR	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33 isoform 2	Error:Variant_position_missing_in_Q7Z3H0_after_alignment											0				BRCA - Breast invasive adenocarcinoma(357;0.0969)										0.651163	86.948231	87.799202	28	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52282534	52282534	667	12	C	A	A	A	273	21	ANKRD33	2	2
OR9K2	441639	broad.mit.edu	37	12	55523903	55523903	+	Silent	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55523903C>A	uc010spe.1	+	c.351C>A	c.(349-351)ATC>ATA	p.I117I		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K,	117	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2														0.640777	195.335743	197.099203	66	37	KEEP	---	---	---	---	capture		Silent	SNP	55523903	55523903	11665	12	C	A	A	A	408	32	OR9K2	2	2
ERBB3	2065	broad.mit.edu	37	12	56487890	56487890	+	Nonsense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:56487890C>T	uc001sjh.2	+	c.1621C>T	c.(1621-1623)CGA>TGA	p.R541*	ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Nonsense_Mutation_p.R482*|ERBB3_uc009zok.2_5'UTR|ERBB3_uc001sjk.2_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	541	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|protein phosphorylation|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)							322				0.272727	32.383795	34.430381	12	32	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	56487890	56487890	5401	12	C	T	T	T	399	31	ERBB3	5	1
ANO2	57101	broad.mit.edu	37	12	5672696	5672696	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:5672696C>A	uc001qnm.2	-	c.2766G>T	c.(2764-2766)ATG>ATT	p.M922I		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	927	Helical; (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7														0.604167	93.082824	93.538224	29	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5672696	5672696	705	12	C	A	A	A	377	29	ANO2	2	2
LRP1	4035	broad.mit.edu	37	12	57569264	57569264	+	Missense_Mutation	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57569264G>A	uc001snd.2	+	c.3569G>A	c.(3568-3570)GGT>GAT	p.G1190D		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1190	EGF-like 5.|Extracellular (Potential).				apoptotic cell clearance|multicellular organismal development|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein particle receptor binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(7)|large_intestine(2)|pancreas(2)|skin(1)|central_nervous_system(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)					1456		OREG0021937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.697674	90.318831	91.806282	30	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57569264	57569264	9324	12	G	A	A	A	572	44	LRP1	2	2
LRRC10	376132	broad.mit.edu	37	12	70004114	70004114	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:70004114G>T	uc001svc.2	-	c.505C>A	c.(505-507)CTG>ATG	p.L169M		NM_201550	NP_963844	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	169	LRR 6.					nucleus					0	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)											0.55102	85.946297	86.061426	27	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70004114	70004114	9340	12	G	T	T	T	438	34	LRRC10	2	2
PTPRB	5787	broad.mit.edu	37	12	70933485	70933485	+	Missense_Mutation	SNP	G	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:70933485G>C	uc001swc.3	-	c.5698C>G	c.(5698-5700)CCA>GCA	p.P1900A	PTPRB_uc001swb.3_Missense_Mutation_p.P1682A|PTPRB_uc010sto.1_Missense_Mutation_p.P1592A|PTPRB_uc010stp.1_Missense_Mutation_p.P1592A|PTPRB_uc001swa.3_Missense_Mutation_p.P1812A	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1682	Cytoplasmic (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)											0.333333	16.370416	16.739217	5	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70933485	70933485	13253	12	G	C	C	C	533	41	PTPRB	3	3
TRHDE	29953	broad.mit.edu	37	12	73046138	73046138	+	Silent	SNP	A	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:73046138A>T	uc001sxa.2	+	c.2577A>T	c.(2575-2577)ACA>ACT	p.T859T		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	859	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)	2														0.575758	124.742404	125.070898	38	28	KEEP	---	---	---	---	capture		Silent	SNP	73046138	73046138	17023	12	A	T	T	T	80	7	TRHDE	3	3
E2F7	144455	broad.mit.edu	37	12	77423929	77423929	+	Silent	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:77423929C>T	uc001sym.3	-	c.1566G>A	c.(1564-1566)GTG>GTA	p.V522V	E2F7_uc009zse.2_Silent_p.V9V	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	522					cell cycle|regulation of transcription, DNA-dependent	transcription factor complex	DNA binding|identical protein binding			ovary(1)|kidney(1)	2														0.727273	183.384885	186.958345	56	21	KEEP	---	---	---	---	capture		Silent	SNP	77423929	77423929	5058	12	C	T	T	T	262	21	E2F7	2	2
NAV3	89795	broad.mit.edu	37	12	78574754	78574754	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:78574754C>A	uc001syp.2	+	c.5621C>A	c.(5620-5622)TCC>TAC	p.S1874Y	NAV3_uc001syo.2_Missense_Mutation_p.S1852Y|NAV3_uc010sub.1_Missense_Mutation_p.S1331Y|NAV3_uc009zsf.2_Missense_Mutation_p.S683Y	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1874	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16										1091				0.764706	153.154659	157.48335	52	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78574754	78574754	10581	12	C	A	A	A	390	30	NAV3	2	2
NALCN	259232	broad.mit.edu	37	13	101728270	101728270	+	Missense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:101728270C>T	uc001vox.1	-	c.3908G>A	c.(3907-3909)GGC>GAC	p.G1303D		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1303	Helical; Voltage-sensor; Name=S4 of repeat IV; (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)													0.535211	119.757762	119.835175	38	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101728270	101728270	10544	13	C	T	T	T	338	26	NALCN	2	2
IRS2	8660	broad.mit.edu	37	13	110438032	110438032	+	Silent	SNP	G	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:110438032G>C	uc001vqv.2	-	c.369C>G	c.(367-369)GCC>GCG	p.A123A		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	123	PH.				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	5	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			Melanoma(100;613 2409 40847)				156				0.5	7.150091	7.15009	2	2	KEEP	---	---	---	---	capture		Silent	SNP	110438032	110438032	8145	13	G	C	C	C	496	39	IRS2	3	3
GSX1	219409	broad.mit.edu	37	13	28368064	28368064	+	Silent	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:28368064G>T	uc001urr.1	+	c.774G>T	c.(772-774)CGG>CGT	p.R258R		NM_145657	NP_663632	Q9H4S2	GSX1_HUMAN	GS homeobox 1	258					positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)										0.636364	43.354252	43.71467	14	8	KEEP	---	---	---	---	capture		Silent	SNP	28368064	28368064	7129	13	G	T	T	T	548	43	GSX1	2	2
HSPH1	10808	broad.mit.edu	37	13	31725161	31725161	+	Missense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:31725161C>T	uc001utl.2	-	c.837G>A	c.(835-837)ATG>ATA	p.M279I	HSPH1_uc001utj.2_Missense_Mutation_p.M277I|HSPH1_uc001utk.2_Missense_Mutation_p.M277I|HSPH1_uc010aaw.2_Missense_Mutation_p.M236I|HSPH1_uc010tds.1_Missense_Mutation_p.M201I|HSPH1_uc010tdt.1_Non-coding_Transcript	NM_006644	NP_006635	Q92598	HS105_HUMAN	heat shock 105kD	277					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding				0		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)										0.440678	78.541789	78.722662	26	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31725161	31725161	7731	13	C	T	T	T	377	29	HSPH1	2	2
SLC25A15	10166	broad.mit.edu	37	13	41373228	41373228	+	Missense_Mutation	SNP	G	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:41373228G>C	uc001uxn.2	+	c.91G>C	c.(91-93)GAC>CAC	p.D31H	SUGT1L1_uc001uxp.1_Non-coding_Transcript|SLC25A15_uc010tfb.1_5'UTR|SUGT1L1_uc001uxo.1_Non-coding_Transcript	NM_014252	NP_055067	Q9Y619	ORNT1_HUMAN	mitochondrial ornithine transporter 1	31	Solcar 1.				cellular amino acid metabolic process|mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity				0		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	L-Ornithine(DB00129)									0.37931	70.902118	71.654314	22	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41373228	41373228	14974	13	G	C	C	C	585	45	SLC25A15	3	3
ENOX1	55068	broad.mit.edu	37	13	43839584	43839584	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:43839584C>A	uc001uza.3	-	c.1561G>T	c.(1561-1563)GGT>TGT	p.G521C	ENOX1_uc001uzb.3_Missense_Mutation_p.G521C|ENOX1_uc001uzc.3_Missense_Mutation_p.G521C|ENOX1_uc001uyz.3_Missense_Mutation_p.G130C	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	521	Potential.				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			pancreas(1)	1		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)										0.692308	265.127015	269.017352	81	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43839584	43839584	5319	13	C	A	A	A	312	24	ENOX1	2	2
PCDH8	5100	broad.mit.edu	37	13	53418996	53418996	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:53418996C>A	uc001vhi.2	-	c.2912G>T	c.(2911-2913)GGG>GTG	p.G971V	PCDH8_uc001vhj.2_Missense_Mutation_p.G874V	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	971	Cytoplasmic (Potential).				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GBM(36;25 841 9273 49207)								0.8125	407.767805	422.382369	130	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53418996	53418996	11937	13	C	A	A	A	286	22	PCDH8	2	2
PCDH9	5101	broad.mit.edu	37	13	67802318	67802318	+	Silent	SNP	A	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:67802318A>T	uc001vik.2	-	c.255T>A	c.(253-255)ATT>ATA	p.I85I	PCDH9_uc001vil.2_Silent_p.I85I|PCDH9_uc010thl.1_Silent_p.I85I|PCDH9_uc001vin.3_Silent_p.I85I	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	85	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)										0.25641	19.947057	22.1264	10	29	KEEP	---	---	---	---	capture		Silent	SNP	67802318	67802318	11938	13	A	T	T	T	8	1	PCDH9	3	3
DIS3	22894	broad.mit.edu	37	13	73348154	73348154	+	Missense_Mutation	SNP	C	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:73348154C>G	uc001vix.3	-	c.1031G>C	c.(1030-1032)AGA>ACA	p.R344T	DIS3_uc001viy.3_Missense_Mutation_p.R314T|DIS3_uc001viz.2_Non-coding_Transcript	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control isoform a	344					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding				0		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)							Multiple Myeloma(4;0.011)			0.263158	58.766008	62.62084	20	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73348154	73348154	4714	13	C	G	G	G	416	32	DIS3	3	3
SLITRK6	84189	broad.mit.edu	37	13	86369467	86369467	+	Missense_Mutation	SNP	G	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:86369467G>C	uc001vll.1	-	c.1177C>G	c.(1177-1179)CAC>GAC	p.H393D	SLITRK6_uc010afe.1_Intron	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	393	Extracellular (Potential).|LRR 7.					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)										0.479167	77.59595	77.614915	23	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86369467	86369467	15245	13	G	C	C	C	585	45	SLITRK6	3	3
GPC6	10082	broad.mit.edu	37	13	94482724	94482724	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:94482724C>A	uc001vlt.2	+	c.637C>A	c.(637-639)CGC>AGC	p.R213S	GPC6_uc010tig.1_Missense_Mutation_p.R213S|GPC6_uc001vlu.1_Missense_Mutation_p.R143S	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	glypican 6 precursor	213						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)												0.6875	73.138415	74.13379	22	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94482724	94482724	6876	13	C	A	A	A	299	23	GPC6	1	1
WDR25	79446	broad.mit.edu	37	14	100847475	100847475	+	Missense_Mutation	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:100847475G>A	uc010avx.2	+	c.214G>A	c.(214-216)GAC>AAC	p.D72N	WDR25_uc001yhm.2_Missense_Mutation_p.D64N|WDR25_uc001yhn.2_Missense_Mutation_p.D72N|WDR25_uc010avy.2_Non-coding_Transcript|WDR25_uc001yho.2_5'Flank	NM_001161476	NP_001154948	Q64LD2	WDR25_HUMAN	WD repeat domain 25	72											0		Melanoma(154;0.212)												0.485714	111.766242	111.777619	34	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100847475	100847475	17855	14	G	A	A	A	429	33	WDR25	2	2
WDR25	79446	broad.mit.edu	37	14	100996231	100996231	+	Silent	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:100996231G>T	uc010avx.2	+	c.1488G>T	c.(1486-1488)CGG>CGT	p.R496R	WDR25_uc001yhm.2_Silent_p.R488R|WDR25_uc001yhn.2_Silent_p.R496R|WDR25_uc010avy.2_Non-coding_Transcript|WDR25_uc001yho.2_Silent_p.R239R	NM_001161476	NP_001154948	Q64LD2	WDR25_HUMAN	WD repeat domain 25	496	WD 6.										0		Melanoma(154;0.212)												0.280702	40.207417	42.652833	16	41	KEEP	---	---	---	---	capture		Silent	SNP	100996231	100996231	17855	14	G	T	T	T	548	43	WDR25	2	2
OR4M1	441670	broad.mit.edu	37	14	20248812	20248812	+	Missense_Mutation	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20248812G>A	uc010tku.1	+	c.331G>A	c.(331-333)GAG>AAG	p.E111K		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	111	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)										0.115489	89.391003	196.829412	85	651	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20248812	20248812	11485	14	G	A	A	A	533	41	OR4M1	2	2
OR4K17	390436	broad.mit.edu	37	14	20585717	20585717	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20585717C>A	uc001vwo.1	+	c.152C>A	c.(151-153)TCC>TAC	p.S51Y		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K,	23	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)										0.39939	355.546257	358.444108	131	197	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20585717	20585717	11481	14	C	A	A	A	390	30	OR4K17	2	2
PRMT5	10419	broad.mit.edu	37	14	23397745	23397745	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23397745C>A	uc001whm.1	-	c.190G>T	c.(190-192)GGT>TGT	p.G64C	PRMT5_uc001whl.1_Missense_Mutation_p.G47C|PRMT5_uc010akd.1_Non-coding_Transcript|PRMT5_uc010tnf.1_Intron|PRMT5_uc010tng.1_Missense_Mutation_p.G47C|PRMT5_uc010tnh.1_Missense_Mutation_p.G64C|PRMT5_uc001whn.1_Missense_Mutation_p.G47C	NM_006109	NP_006100	O14744	ANM5_HUMAN	protein arginine methyltransferase 5 isoform a	64					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			ovary(1)	1	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)										0.349515	104.6835	106.73459	36	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23397745	23397745	12982	14	C	A	A	A	299	23	PRMT5	1	1
MYH7	4625	broad.mit.edu	37	14	23885271	23885271	+	Missense_Mutation	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23885271G>A	uc001wjx.2	-	c.4895C>T	c.(4894-4896)GCC>GTC	p.A1632V		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1632	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)	3	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)										0.428571	116.7952	117.236676	42	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23885271	23885271	10434	14	G	A	A	A	546	42	MYH7	2	2
ARHGAP5	394	broad.mit.edu	37	14	32563472	32563472	+	Silent	SNP	A	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:32563472A>T	uc001wrl.2	+	c.3597A>T	c.(3595-3597)CCA>CCT	p.P1199P	ARHGAP5_uc001wrm.2_Silent_p.P1199P|ARHGAP5_uc001wrn.2_Silent_p.P1199P|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	1199					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(3)|central_nervous_system(1)	4	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		NSCLC(9;77 350 3443 29227 41353)								0.398437	162.0196	163.16771	51	77	KEEP	---	---	---	---	capture		Silent	SNP	32563472	32563472	900	14	A	T	T	T	67	6	ARHGAP5	3	3
AKAP6	9472	broad.mit.edu	37	14	33015819	33015819	+	Silent	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:33015819C>T	uc001wrq.2	+	c.1960C>T	c.(1960-1962)CTG>TTG	p.L654L	AKAP6_uc010aml.2_Silent_p.L651L	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	654					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|large_intestine(2)|lung(2)|pancreas(1)	16	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		Melanoma(49;821 1200 7288 13647 42351)				483				0.265625	48.05372	51.225359	17	47	KEEP	---	---	---	---	capture		Silent	SNP	33015819	33015819	458	14	C	T	T	T	415	32	AKAP6	2	2
MIA2	117153	broad.mit.edu	37	14	39717036	39717036	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:39717036G>T	uc001wux.2	+	c.1258G>T	c.(1258-1260)GAC>TAC	p.D420Y	MIA2_uc010amy.1_Missense_Mutation_p.D351Y	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	420						extracellular region				ovary(1)|breast(1)	2	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)										0.397059	72.576743	73.215999	27	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39717036	39717036	9954	14	G	T	T	T	429	33	MIA2	2	2
SAV1	60485	broad.mit.edu	37	14	51111641	51111641	+	Missense_Mutation	SNP	C	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:51111641C>G	uc001wyg.1	-	c.627G>C	c.(625-627)TGG>TGC	p.W209C	SAV1_uc001wyh.1_Missense_Mutation_p.W209C	NM_021818	NP_068590	Q9H4B6	SAV1_HUMAN	WW45 protein	209	WW 1.				hippo signaling cascade	cytoplasm|nucleus	identical protein binding				0	all_epithelial(31;0.000611)|Breast(41;0.0333)													0.144444	27.477764	38.375225	13	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51111641	51111641	14337	14	C	G	G	G	390	30	SAV1	3	3
PYGL	5836	broad.mit.edu	37	14	51378535	51378535	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:51378535C>A	uc001wyu.2	-	c.1882G>T	c.(1882-1884)GCA>TCA	p.A628S	PYGL_uc010tqq.1_Missense_Mutation_p.A594S|PYGL_uc001wyv.2_Missense_Mutation_p.A302S	NM_002863	NP_002854	P06737	PYGL_HUMAN	liver glycogen phosphorylase isoform 1	628					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding				0	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)									0.314286	93.130414	96.357331	33	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51378535	51378535	13319	14	C	A	A	A	338	26	PYGL	2	2
PTGDR	5729	broad.mit.edu	37	14	52735003	52735003	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:52735003C>A	uc001wzq.2	+	c.471C>A	c.(469-471)AGC>AGA	p.S157R		NM_000953	NP_000944	Q13258	PD2R_HUMAN	prostaglandin D2 receptor	157	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)									0.4125	199.747625	200.807529	66	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52735003	52735003	13195	14	C	A	A	A	350	27	PTGDR	1	1
C14orf135	64430	broad.mit.edu	37	14	60591648	60591648	+	Missense_Mutation	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:60591648G>A	uc001xer.3	+	c.2057G>A	c.(2056-2058)TGT>TAT	p.C686Y	C14orf135_uc001xeq.2_Missense_Mutation_p.C686Y|C14orf135_uc010apm.2_Non-coding_Transcript	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	hepatitis C virus F protein-binding protein 2	920						integral to membrane				ovary(2)	2		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)										0.196581	45.982506	56.011206	23	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60591648	60591648	1793	14	G	A	A	A	624	48	C14orf135	2	2
SIX6	4990	broad.mit.edu	37	14	60976401	60976401	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:60976401C>A	uc001xfa.3	+	c.285C>A	c.(283-285)CAC>CAA	p.H95Q		NM_007374	NP_031400	O95475	SIX6_HUMAN	SIX homeobox 6	95					organ morphogenesis|regulation of transcription, DNA-dependent|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.088)										0.357143	29.642767	30.145845	10	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60976401	60976401	14846	14	C	A	A	A	259	20	SIX6	2	2
SIX4	51804	broad.mit.edu	37	14	61180536	61180536	+	Silent	SNP	T	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:61180536T>A	uc001xfc.2	-	c.1935A>T	c.(1933-1935)GCA>GCT	p.A645A		NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	sine oculis homeobox homolog 4	645						nucleus	transcription regulator activity			breast(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0275)						127				0.487805	60.75706	60.763282	20	21	KEEP	---	---	---	---	capture		Silent	SNP	61180536	61180536	14844	14	T	A	A	A	756	59	SIX4	3	3
C14orf50	145376	broad.mit.edu	37	14	65054946	65054946	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:65054946G>T	uc001xhl.1	+	c.1015G>T	c.(1015-1017)GTA>TTA	p.V339L	C14orf50_uc001xhm.1_Missense_Mutation_p.V69L	NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	hypothetical protein LOC145376	339											0				OV - Ovarian serous cystadenocarcinoma(108;0.00382)|all cancers(60;0.00427)|BRCA - Breast invasive adenocarcinoma(234;0.0488)										0.346154	107.585895	109.751114	36	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65054946	65054946	1827	14	G	T	T	T	468	36	C14orf50	2	2
GALC	2581	broad.mit.edu	37	14	88406293	88406293	+	Nonsense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:88406293C>A	uc001xvt.2	-	c.1867G>T	c.(1867-1869)GAA>TAA	p.E623*	GALC_uc010tvw.1_Non-coding_Transcript|GALC_uc010tvx.1_Nonsense_Mutation_p.E597*|GALC_uc010tvy.1_Nonsense_Mutation_p.E600*|GALC_uc010tvz.1_Nonsense_Mutation_p.E567*	NM_000153	NP_000144	P54803	GALC_HUMAN	galactosylceramidase isoform a precursor	623					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity				0														0.150442	57.004219	83.482933	34	192	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	88406293	88406293	6465	14	C	A	A	A	377	29	GALC	5	2
TDP1	55775	broad.mit.edu	37	14	90455297	90455297	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:90455297G>T	uc001xxy.2	+	c.1180G>T	c.(1180-1182)GTC>TTC	p.V394F	TDP1_uc010atm.2_Non-coding_Transcript|TDP1_uc001xxz.2_Missense_Mutation_p.V394F|TDP1_uc010atn.2_Missense_Mutation_p.V394F|TDP1_uc001xya.2_Missense_Mutation_p.V155F|TDP1_uc001xyb.2_Non-coding_Transcript|TDP1_uc010ato.2_Missense_Mutation_p.V394F|TDP1_uc001xyd.1_Missense_Mutation_p.V9F	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	394					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)										0.288889	35.95535	37.75412	13	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90455297	90455297	16254	14	G	T	T	T	624	48	TDP1	2	2
CPSF2	53981	broad.mit.edu	37	14	92600598	92600598	+	Missense_Mutation	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:92600598G>A	uc001yah.1	+	c.314G>A	c.(313-315)CGA>CAA	p.R105Q		NM_017437	NP_059133	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2	105					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			ovary(2)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		Ovarian(78;28 1788 18702 44111)								0.351852	58.014804	59.057435	19	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92600598	92600598	3963	14	G	A	A	A	481	37	CPSF2	1	1
KIAA1409	57578	broad.mit.edu	37	14	93962804	93962804	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:93962804G>T	uc001ybv.1	+	c.229G>T	c.(229-231)GTC>TTC	p.V77F	KIAA1409_uc001ybs.1_Missense_Mutation_p.V77F|KIAA1409_uc001ybu.1_Intron	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	254						integral to membrane				ovary(10)|large_intestine(3)	13		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)						1186				0.369565	107.434536	108.80674	34	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93962804	93962804	8539	14	G	T	T	T	468	36	KIAA1409	2	2
SERPINA3	12	broad.mit.edu	37	14	95081191	95081191	+	Missense_Mutation	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:95081191G>A	uc001ydo.3	+	c.488G>A	c.(487-489)GGA>GAA	p.G163E	SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.2_Non-coding_Transcript|SERPINA3_uc001ydq.2_Missense_Mutation_p.G138E|SERPINA3_uc001ydp.2_Missense_Mutation_p.G138E|SERPINA3_uc001yds.2_Missense_Mutation_p.G138E|SERPINA3_uc010avg.2_Missense_Mutation_p.G138E	NM_001085	NP_001076	P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A, member 3	138					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)|large_intestine(1)	5		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)										0.22	26.498202	30.109322	11	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95081191	95081191	14578	14	G	A	A	A	533	41	SERPINA3	2	2
C14orf49	161176	broad.mit.edu	37	14	95932316	95932316	+	Silent	SNP	G	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:95932316G>C	uc001yei.3	-	c.579C>G	c.(577-579)GCC>GCG	p.A193A	C14orf49_uc010avi.2_Silent_p.A193A|C14orf49_uc001yej.1_Silent_p.A193A	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	nesprin-3	193	Cytoplasmic (Potential).				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			central_nervous_system(1)	1		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)										0.184615	26.880244	32.934186	12	53	KEEP	---	---	---	---	capture		Silent	SNP	95932316	95932316	1826	14	G	C	C	C	548	43	C14orf49	3	3
ADAMTS17	170691	broad.mit.edu	37	15	100636612	100636612	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:100636612C>A	uc002bvv.1	-	c.2086G>T	c.(2086-2088)GGC>TGC	p.G696C	ADAMTS17_uc002bvx.1_Missense_Mutation_p.G453C	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	696	Cys-rich.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)										0.65873	270.603192	273.46181	83	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100636612	100636612	263	15	C	A	A	A	299	23	ADAMTS17	1	1
LRRK1	79705	broad.mit.edu	37	15	101597147	101597147	+	Silent	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:101597147C>A	uc002bwr.2	+	c.4419C>A	c.(4417-4419)GCC>GCA	p.A1473A	LRRK1_uc010usb.1_Non-coding_Transcript|LRRK1_uc010usc.1_Non-coding_Transcript|LRRK1_uc002bws.2_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1473	Protein kinase.				protein phosphorylation|small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)							1100				0.316456	65.089337	67.489839	25	54	KEEP	---	---	---	---	capture		Silent	SNP	101597147	101597147	9408	15	C	A	A	A	262	21	LRRK1	2	2
TJP1	7082	broad.mit.edu	37	15	30008950	30008950	+	Missense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:30008950C>T	uc010azl.2	-	c.4031G>A	c.(4030-4032)CGA>CAA	p.R1344Q	TJP1_uc001zcq.2_Missense_Mutation_p.R1280Q|TJP1_uc001zcr.2_Missense_Mutation_p.R1356Q|TJP1_uc001zcs.2_Missense_Mutation_p.R1276Q	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	1356					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|pancreas(1)	5		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		Melanoma(77;681 1843 6309 6570)								0.654545	118.822052	119.991533	36	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30008950	30008950	16458	15	C	T	T	T	403	31	TJP1	1	1
OTUD7A	161725	broad.mit.edu	37	15	31796019	31796019	+	Missense_Mutation	SNP	A	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:31796019A>T	uc001zfr.2	-	c.896T>A	c.(895-897)GTG>GAG	p.V299E	OTUD7A_uc001zfq.2_Missense_Mutation_p.V292E	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	292	OTU.|Catalytic (By similarity).|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)	1		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)										0.365385	53.512889	54.340442	19	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31796019	31796019	11731	15	A	T	T	T	78	6	OTUD7A	3	3
CHRNA7	1139	broad.mit.edu	37	15	32460267	32460267	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:32460267G>T	uc001zft.2	+	c.1117G>T	c.(1117-1119)GCC>TCC	p.A373S	CHRNA7_uc010baf.2_Missense_Mutation_p.A192S|CHRNA7_uc010bak.2_Missense_Mutation_p.A288S	NM_000746	NP_000737	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7	373	Cytoplasmic (Potential).				activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			ovary(1)	1		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	Esophageal Squamous(193;529 2900 40232 43193)								0.264151	30.578608	33.288534	14	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32460267	32460267	3522	15	G	T	T	T	494	38	CHRNA7	1	1
BUB1B	701	broad.mit.edu	37	15	40512823	40512823	+	Missense_Mutation	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:40512823G>A	uc001zkx.3	+	c.3016G>A	c.(3016-3018)GAG>AAG	p.E1006K	PAK6_uc010bbl.2_Intron|PAK6_uc010bbm.2_Intron	NM_001211	NP_001202	O60566	BUB1B_HUMAN	budding uninhibited by benzimidazoles 1 beta	1006	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|protein phosphorylation|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|kidney(1)	2		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)						298				0.315315	96.385723	99.753384	35	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40512823	40512823	1605	15	G	A	A	A	585	45	BUB1B	2	2
IVD	3712	broad.mit.edu	37	15	40707610	40707610	+	Missense_Mutation	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:40707610G>A	uc001zls.3	+	c.898G>A	c.(898-900)GCG>ACG	p.A300T	IVD_uc001zlq.2_Missense_Mutation_p.A270T|IVD_uc001zlr.2_Missense_Mutation_p.A3T	NM_002225	NP_002216	P26440	IVD_HUMAN	isovaleryl Coenzyme A dehydrogenase isoform 1	297					leucine catabolic process|oxidation-reduction process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			ovary(1)	1		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		GBM(31;293 617 7486 32527 34655)								0.30303	29.157551	30.289058	10	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40707610	40707610	8232	15	G	A	A	A	442	34	IVD	2	2
SLC24A5	283652	broad.mit.edu	37	15	48414089	48414089	+	Missense_Mutation	SNP	G	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:48414089G>C	uc001zwe.2	+	c.157G>C	c.(157-159)GAG>CAG	p.E53Q	SLC24A5_uc001zwd.2_Missense_Mutation_p.E53Q|SLC24A5_uc010bel.2_Intron	NM_205850	NP_995322	Q71RS6	NCKX5_HUMAN	solute carrier family 24, member 5 precursor	53	Extracellular (Potential).				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity				0		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)										0.278481	67.317326	70.803517	22	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48414089	48414089	14966	15	G	C	C	C	533	41	SLC24A5	3	3
TLN2	83660	broad.mit.edu	37	15	63073381	63073381	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:63073381G>T	uc002alb.3	+	c.5557G>T	c.(5557-5559)GAC>TAC	p.D1853Y	TLN2_uc002alc.3_Missense_Mutation_p.D246Y|TLN2_uc002ald.2_Missense_Mutation_p.D246Y	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1853					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cell-cell junction|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(4)|breast(2)	6														0.285714	28.836948	30.278224	10	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63073381	63073381	16478	15	G	T	T	T	481	37	TLN2	1	1
ISLR2	57611	broad.mit.edu	37	15	74426316	74426316	+	Missense_Mutation	SNP	C	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:74426316C>G	uc002axd.2	+	c.1221C>G	c.(1219-1221)AGC>AGG	p.S407R	ISLR2_uc002axe.2_Missense_Mutation_p.S407R|ISLR2_uc010bjg.2_Missense_Mutation_p.S407R|ISLR2_uc010bjf.2_Missense_Mutation_p.S407R	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	407	Extracellular (Potential).				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0														0.777778	24.229341	24.86792	7	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74426316	74426316	8163	15	C	G	G	G	350	27	ISLR2	3	3
TEKT5	146279	broad.mit.edu	37	16	10721632	10721632	+	Silent	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:10721632G>A	uc002czz.1	-	c.1266C>T	c.(1264-1266)ATC>ATT	p.I422I		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	tektin 5	422	Potential.				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2														0.315789	17.050491	17.620029	6	13	KEEP	---	---	---	---	capture		Silent	SNP	10721632	10721632	16283	16	G	A	A	A	473	37	TEKT5	1	1
CRAMP1L	57585	broad.mit.edu	37	16	1709952	1709952	+	Silent	SNP	G	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1709952G>C	uc010uvh.1	+	c.2301G>C	c.(2299-2301)ACG>ACC	p.T767T	CRAMP1L_uc002cmf.2_Non-coding_Transcript	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Crm, cramped-like	767						nucleus	DNA binding				0														0.617647	61.245118	61.650805	21	13	KEEP	---	---	---	---	capture		Silent	SNP	1709952	1709952	3985	16	G	C	C	C	483	38	CRAMP1L	3	3
ARL6IP1	23204	broad.mit.edu	37	16	18806799	18806799	+	Missense_Mutation	SNP	T	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:18806799T>C	uc002dfl.1	-	c.395A>G	c.(394-396)GAA>GGA	p.E132G	ARL6IP1_uc010van.1_Missense_Mutation_p.E103G|ARL6IP1_uc010bvz.1_Intron	NM_015161	NP_055976	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting	132						integral to membrane	protein binding				0														0.142857	15.155913	21.124766	7	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18806799	18806799	960	16	T	C	C	C	806	62	ARL6IP1	4	4
NOXO1	124056	broad.mit.edu	37	16	2030675	2030675	+	Missense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2030675C>T	uc002cnx.2	-	c.205G>A	c.(205-207)GTT>ATT	p.V69I	NOXO1_uc002cnz.2_Missense_Mutation_p.V68I|NOXO1_uc002coa.2_Missense_Mutation_p.V68I|NOXO1_uc002cny.2_Missense_Mutation_p.V69I	NM_172168	NP_751908	Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1 isoform c	69	PX.				cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst	NADPH oxidase complex	enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity				0						Pancreas(104;2811 2841 4129)|Esophageal Squamous(25;910 1225 43728)								0.666667	17.455698	17.682248	6	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2030675	2030675	10965	16	C	T	T	T	247	19	NOXO1	1	1
PRKCB	5579	broad.mit.edu	37	16	24202429	24202429	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:24202429G>T	uc002dme.2	+	c.1741G>T	c.(1741-1743)GGC>TGC	p.G581C	PRKCB_uc002dmd.2_Missense_Mutation_p.G581C	NM_002738	NP_002729	P05771	KPCB_HUMAN	protein kinase C, beta isoform 2	581	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9					Vitamin E(DB00163)					395				0.583333	90.799839	91.089579	28	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24202429	24202429	12951	16	G	T	T	T	455	35	PRKCB	2	2
ABCC11	85320	broad.mit.edu	37	16	48249115	48249115	+	Silent	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:48249115G>A	uc002eff.1	-	c.1092C>T	c.(1090-1092)ATC>ATT	p.I364I	ABCC11_uc002efg.1_Silent_p.I364I|ABCC11_uc002efh.1_Silent_p.I364I|ABCC11_uc010vgk.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	364	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|central_nervous_system(1)	4		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)												0.204082	44.900512	52.824872	20	78	KEEP	---	---	---	---	capture		Silent	SNP	48249115	48249115	52	16	G	A	A	A	577	45	ABCC11	2	2
NUP93	9688	broad.mit.edu	37	16	56855440	56855440	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:56855440G>T	uc002eka.2	+	c.589G>T	c.(589-591)GTA>TTA	p.V197L	NUP93_uc002ekb.2_Missense_Mutation_p.V74L|NUP93_uc010vhi.1_Missense_Mutation_p.V74L	NM_014669	NP_055484	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	197					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(1)|lung(1)	2						Colon(33;610 796 1305 1705 38917)								0.25	50.316247	54.405756	18	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56855440	56855440	11177	16	G	T	T	T	624	48	NUP93	2	2
CCDC102A	92922	broad.mit.edu	37	16	57562734	57562734	+	Missense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:57562734C>T	uc002elw.2	-	c.356G>A	c.(355-357)CGC>CAC	p.R119H		NM_033212	NP_149989	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	119	Potential.									ovary(1)	1														0.454545	11.567741	11.588006	5	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57562734	57562734	2856	16	C	T	T	T	351	27	CCDC102A	1	1
CDH11	1009	broad.mit.edu	37	16	65026828	65026828	+	Silent	SNP	T	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:65026828T>C	uc002eoi.2	-	c.633A>G	c.(631-633)GAA>GAG	p.E211E	CDH11_uc010cdn.2_Non-coding_Transcript|CDH11_uc002eoj.2_Silent_p.E211E|CDH11_uc010vin.1_Silent_p.E85E	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	211	Cadherin 2.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(7)|ovary(2)	9		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)						239	TSP Lung(24;0.17)			0.148148	8.803678	11.994023	4	23	KEEP	---	---	---	---	capture		Silent	SNP	65026828	65026828	3226	16	T	C	C	C	725	56	CDH11	4	4
GFOD2	81577	broad.mit.edu	37	16	67709851	67709851	+	Missense_Mutation	SNP	T	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67709851T>A	uc002eub.2	-	c.365A>T	c.(364-366)AAC>ATC	p.N122I	GFOD2_uc002eua.1_Non-coding_Transcript|GFOD2_uc002euc.2_Missense_Mutation_p.N17I	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain	122					oxidation-reduction process	proteinaceous extracellular matrix	binding|oxidoreductase activity			ovary(2)	2		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)										0.150943	10.474703	16.663842	8	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67709851	67709851	6612	16	T	A	A	A	780	60	GFOD2	3	3
RANBP10	57610	broad.mit.edu	37	16	67761665	67761665	+	Missense_Mutation	SNP	C	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67761665C>G	uc002eud.2	-	c.1609G>C	c.(1609-1611)GAG>CAG	p.E537Q	RANBP10_uc010ceo.2_Missense_Mutation_p.E308Q|RANBP10_uc010vju.1_Missense_Mutation_p.E511Q|RANBP10_uc010vjv.1_Missense_Mutation_p.E450Q|RANBP10_uc010vjw.1_Missense_Mutation_p.E228Q	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	RAN binding protein 10	537										ovary(1)	1		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)										0.282609	33.724712	35.701434	13	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67761665	67761665	13486	16	C	G	G	G	416	32	RANBP10	3	3
SLC12A4	6560	broad.mit.edu	37	16	68002416	68002416	+	Missense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:68002416C>T	uc010vkj.1	-	c.142G>A	c.(142-144)GCG>ACG	p.A48T	SLC12A4_uc010vkh.1_5'Flank|SLC12A4_uc002euz.2_Missense_Mutation_p.R14H|SLC12A4_uc010vki.1_Missense_Mutation_p.R14H|SLC12A4_uc002eva.2_Missense_Mutation_p.R14H|SLC12A4_uc010cew.1_Intron	NM_001145962	NP_001139434	Q9UP95	S12A4_HUMAN	solute carrier family 12, member 4 isoform c	Error:Variant_position_missing_in_Q9UP95_after_alignment					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)									0.52	39.073383	39.082018	13	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68002416	68002416	14880	16	C	T	T	T	351	27	SLC12A4	1	1
DPEP3	64180	broad.mit.edu	37	16	68014020	68014020	+	Missense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:68014020C>T	uc002evc.3	-	c.339G>A	c.(337-339)ATG>ATA	p.M113I	DPEP3_uc010cex.2_Missense_Mutation_p.M113I	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	dipeptidase 3 isoform a	88					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(3)	3		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)										0.653846	53.179855	53.722546	17	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68014020	68014020	4899	16	C	T	T	T	325	25	DPEP3	2	2
DPEP3	64180	broad.mit.edu	37	16	68014111	68014111	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:68014111G>T	uc002evc.3	-	c.248C>A	c.(247-249)CCG>CAG	p.P83Q	DPEP3_uc010cex.2_Missense_Mutation_p.P83Q	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	dipeptidase 3 isoform a	58					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(3)	3		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)										0.428571	29.473756	29.566743	9	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68014111	68014111	4899	16	G	T	T	T	507	39	DPEP3	1	1
DPEP2	64174	broad.mit.edu	37	16	68026050	68026050	+	Missense_Mutation	SNP	A	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:68026050A>G	uc002evd.3	-	c.437T>C	c.(436-438)CTG>CCG	p.L146P	DPEP2_uc010cey.2_Missense_Mutation_p.L146P|DPEP2_uc002eve.2_Missense_Mutation_p.L146P|DPEP2_uc002evf.2_Non-coding_Transcript|DPEP2_uc002evg.2_Missense_Mutation_p.C104R	NM_022355	NP_071750	Q9H4A9	DPEP2_HUMAN	dipeptidase 2 precursor	146					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			skin(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)										0.162162	21.747917	29.792507	12	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68026050	68026050	4898	16	A	G	G	G	91	7	DPEP2	4	4
CALB2	794	broad.mit.edu	37	16	71417337	71417337	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:71417337C>A	uc002faa.3	+	c.467C>A	c.(466-468)ACC>AAC	p.T156N	CALB2_uc010vme.1_Non-coding_Transcript|CALB2_uc002fac.3_Missense_Mutation_p.T156N	NM_001740	NP_001731	P22676	CALB2_HUMAN	calbindin 2 isoform 1	156	EF-hand 4.						calcium ion binding				0		Ovarian(137;0.125)												0.48	33.179588	33.189088	12	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71417337	71417337	2690	16	C	A	A	A	234	18	CALB2	2	2
WDR59	79726	broad.mit.edu	37	16	74982429	74982429	+	Silent	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:74982429G>A	uc002fdh.1	-	c.433C>T	c.(433-435)CTG>TTG	p.L145L	WDR59_uc002fdi.2_Silent_p.L145L|WDR59_uc002fdj.2_Silent_p.L145L	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	145										ovary(1)|breast(1)	2														0.23913	144.03433	158.309575	55	175	KEEP	---	---	---	---	capture		Silent	SNP	74982429	74982429	17881	16	G	A	A	A	464	36	WDR59	2	2
MYH1	4619	broad.mit.edu	37	17	10398275	10398275	+	Silent	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10398275C>T	uc002gmo.2	-	c.5439G>A	c.(5437-5439)AAG>AAA	p.K1813K		NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1813	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				0.285714	68.594714	72.038352	24	60	KEEP	---	---	---	---	capture		Silent	SNP	10398275	10398275	10424	17	C	T	T	T	415	32	MYH1	2	2
MYH1	4619	broad.mit.edu	37	17	10409210	10409210	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10409210C>A	uc002gmo.2	-	c.2093G>T	c.(2092-2094)AGG>ATG	p.R698M		NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	698	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|breast(3)|kidney(1)|skin(1)	15										585				0.775	104.244707	107.023892	31	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10409210	10409210	10424	17	C	A	A	A	312	24	MYH1	2	2
KCNJ12	3768	broad.mit.edu	37	17	21319542	21319542	+	Silent	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:21319542G>T	uc002gyv.1	+	c.888G>T	c.(886-888)GTG>GTT	p.V296V		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	296	Cytoplasmic (By similarity).				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)	3				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)						Prostate(3;0.18)			0.20339	26.50439	31.296463	12	47	KEEP	---	---	---	---	capture		Silent	SNP	21319542	21319542	8351	17	G	T	T	T	600	47	KCNJ12	2	2
MYO18A	399687	broad.mit.edu	37	17	27493223	27493223	+	Missense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:27493223C>T	uc002hdt.1	-	c.736G>A	c.(736-738)GAG>AAG	p.E246K	MYO18A_uc010csa.1_Missense_Mutation_p.E246K|MYO18A_uc002hdu.1_Missense_Mutation_p.E246K	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	246	PDZ.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			Esophageal Squamous(182;472 2015 7001 15270 22562)								0.31068	84.871452	88.154917	32	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27493223	27493223	10460	17	C	T	T	T	403	31	MYO18A	1	1
TMIGD1	388364	broad.mit.edu	37	17	28651849	28651849	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:28651849G>T	uc002hfa.1	-	c.625C>A	c.(625-627)CAC>AAC	p.H209N	TMIGD1_uc010csh.1_Missense_Mutation_p.H209N	NM_206832	NP_996663	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain	209	Extracellular (Potential).					integral to membrane					0														0.375	155.850383	157.693033	51	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28651849	28651849	16770	17	G	T	T	T	585	45	TMIGD1	2	2
ZNF207	7756	broad.mit.edu	37	17	30696361	30696361	+	Silent	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:30696361G>T	uc002hhj.3	+	c.1212G>T	c.(1210-1212)CGG>CGT	p.R404R	ZNF207_uc002hhh.3_Silent_p.R388R|ZNF207_uc002hhi.3_Silent_p.R373R|ZNF207_uc010csz.2_Silent_p.R407R|ZNF207_uc002hhk.1_Silent_p.R404R|ZNF207_uc002hhl.1_Non-coding_Transcript	NM_001098507	NP_001091977	O43670	ZN207_HUMAN	zinc finger protein 207 isoform c	388					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)											0.4875	118.719164	118.730037	39	41	KEEP	---	---	---	---	capture		Silent	SNP	30696361	30696361	18356	17	G	T	T	T	535	42	ZNF207	2	2
PLXDC1	57125	broad.mit.edu	37	17	37226180	37226180	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:37226180C>A	uc002hrg.2	-	c.1312G>T	c.(1312-1314)GCG>TCG	p.A438S	PLXDC1_uc010cvr.1_Missense_Mutation_p.A134S|PLXDC1_uc002hrh.2_Non-coding_Transcript|PLXDC1_uc002hri.2_Non-coding_Transcript|PLXDC1_uc002hrj.1_Non-coding_Transcript|PLXDC1_uc002hrk.1_Non-coding_Transcript	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1 precursor	438	Helical; (Potential).				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				ovary(1)|kidney(1)	2												OREG0024368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.394366	81.6747	82.370745	28	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37226180	37226180	12543	17	C	A	A	A	338	26	PLXDC1	2	2
ATP6V0A1	535	broad.mit.edu	37	17	40666370	40666370	+	Missense_Mutation	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40666370G>A	uc002hzs.2	+	c.2315G>A	c.(2314-2316)GGA>GAA	p.G772E	ATP6V0A1_uc002hzr.2_Missense_Mutation_p.G771E|ATP6V0A1_uc002hzq.2_Missense_Mutation_p.G765E|ATP6V0A1_uc010wgj.1_Missense_Mutation_p.G728E|ATP6V0A1_uc010wgk.1_Missense_Mutation_p.G722E|ATP6V0A1_uc010cyg.2_Missense_Mutation_p.G417E|ATP6V0A1_uc010wgl.1_Missense_Mutation_p.G630E|ATP6V0A1_uc002hzt.2_Missense_Mutation_p.G55E	NM_001130020	NP_001123492	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	771	Lumenal (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)										0.346939	191.506119	195.575159	68	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40666370	40666370	1187	17	G	A	A	A	533	41	ATP6V0A1	2	2
TUBG2	27175	broad.mit.edu	37	17	40818413	40818413	+	Nonsense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40818413C>T	uc010wgr.1	+	c.1069C>T	c.(1069-1071)CAG>TAG	p.Q357*	TUBG2_uc002iaq.2_Nonsense_Mutation_p.Q199*|TUBG2_uc002iar.2_Nonsense_Mutation_p.Q204*|TUBG2_uc002ias.2_Nonsense_Mutation_p.Q199*|TUBG2_uc002iap.2_Nonsense_Mutation_p.Q204*	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	357					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)										0.12	14.834839	29.003568	12	88	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	40818413	40818413	17320	17	C	T	T	T	273	21	TUBG2	5	2
RUNDC1	146923	broad.mit.edu	37	17	41142924	41142924	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:41142924G>T	uc002ici.1	+	c.1033G>T	c.(1033-1035)GCG>TCG	p.A345S	RUNDC1_uc010whi.1_Missense_Mutation_p.A115S	NM_173079	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	345											0		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)										0.393258	106.61162	107.497363	35	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41142924	41142924	14222	17	G	T	T	T	442	34	RUNDC1	2	2
CA10	56934	broad.mit.edu	37	17	49713356	49713356	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:49713356G>T	uc002itv.3	-	c.667C>A	c.(667-669)CTA>ATA	p.L223I	CA10_uc002itu.3_Missense_Mutation_p.L146I|CA10_uc002itw.3_Missense_Mutation_p.L217I|CA10_uc002itx.3_Missense_Mutation_p.L217I|CA10_uc002ity.3_Missense_Mutation_p.L217I|CA10_uc002itz.2_Missense_Mutation_p.L217I	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	217					brain development					ovary(1)	1			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)											0.381443	110.725777	111.929244	37	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49713356	49713356	2627	17	G	T	T	T	464	36	CA10	2	2
KIF2B	84643	broad.mit.edu	37	17	51900706	51900706	+	Silent	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:51900706G>T	uc002iua.2	+	c.312G>T	c.(310-312)TCG>TCT	p.S104S		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	104					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)	5														0.430769	173.480607	174.023367	56	74	KEEP	---	---	---	---	capture		Silent	SNP	51900706	51900706	8609	17	G	T	T	T	496	39	KIF2B	1	1
DYNLL2	140735	broad.mit.edu	37	17	56164475	56164475	+	Silent	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56164475C>T	uc010wnn.1	+	c.24C>T	c.(22-24)ATC>ATT	p.I8I		NM_080677	NP_542408	Q96FJ2	DYL2_HUMAN	dynein, light chain, LC8-type 2	8					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|microtubule-based process|transport	cytosol|dynein complex|microtubule|myosin complex|plasma membrane	motor activity				0														0.477273	64.27103	64.29089	21	23	KEEP	---	---	---	---	capture		Silent	SNP	56164475	56164475	5035	17	C	T	T	T	369	29	DYNLL2	2	2
WIPI1	55062	broad.mit.edu	37	17	66425071	66425071	+	Missense_Mutation	SNP	C	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:66425071C>G	uc010dey.2	-	c.972G>C	c.(970-972)CAG>CAC	p.Q324H	WIPI1_uc002jhd.3_Non-coding_Transcript|WIPI1_uc010wqo.1_Missense_Mutation_p.Q242H|WIPI1_uc002jhe.3_Non-coding_Transcript	NM_017983	NP_060453	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting	324	WD 3.				macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding				0														0.333333	42.956718	43.979704	14	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66425071	66425071	17944	17	C	G	G	G	415	32	WIPI1	3	3
TSPAN10	83882	broad.mit.edu	37	17	79612618	79612619	+	Missense_Mutation	DNP	TG	CT	CT			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:79612618_79612619TG>CT	uc010die.2	+	c.637_638TG>CT	c.(637-639)TGC>CTC	p.C213L	TSPAN10_uc002kaw.1_Missense_Mutation_p.C213L|TSPAN10_uc010did.1_Non-coding_Transcript	NM_031945	NP_114151	Q9H1Z9	TSN10_HUMAN	tetraspanin 10	213						integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)											0.4	19.947296	20.07838	6	9	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	79612618	79612619	17185	17	TG	CT	CT	CT	715	55	TSPAN10	4	4
ANKRD29	147463	broad.mit.edu	37	18	21229076	21229076	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:21229076C>A	uc002kun.2	-	c.103G>T	c.(103-105)GGC>TGC	p.G35C	ANKRD29_uc002kuo.2_Missense_Mutation_p.G35C	NM_173505	NP_775776	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	35	ANK 1.									ovary(3)|breast(1)	4	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)													0.326531	47.385884	48.69243	16	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21229076	21229076	662	18	C	A	A	A	299	23	ANKRD29	1	1
ZNF521	25925	broad.mit.edu	37	18	22806774	22806774	+	Missense_Mutation	SNP	T	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:22806774T>A	uc002kvk.2	-	c.1108A>T	c.(1108-1110)ATG>TTG	p.M370L	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.M370L|ZNF521_uc002kvl.2_Missense_Mutation_p.M150L	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	370					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)									266				0.490196	85.773569	85.777828	25	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22806774	22806774	18559	18	T	A	A	A	663	51	ZNF521	3	3
DSC1	1823	broad.mit.edu	37	18	28711632	28711632	+	Silent	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:28711632C>T	uc002kwn.2	-	c.2412G>A	c.(2410-2412)AAG>AAA	p.K804K	DSC1_uc002kwm.2_Silent_p.K804K	NM_024421	NP_077739	Q08554	DSC1_HUMAN	desmocollin 1 isoform Dsc1a preproprotein	804	Cytoplasmic (Potential).				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			ovary(3)	3			OV - Ovarian serous cystadenocarcinoma(10;0.00778)											0.493333	125.332422	125.3359	37	38	KEEP	---	---	---	---	capture		Silent	SNP	28711632	28711632	4949	18	C	T	T	T	311	24	DSC1	2	2
DSG1	1828	broad.mit.edu	37	18	28934526	28934526	+	Silent	SNP	A	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:28934526A>T	uc002kwp.2	+	c.2367A>T	c.(2365-2367)ACA>ACT	p.T789T	DSG1_uc010xbp.1_Silent_p.T148T	NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	789	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			ovary(2)|central_nervous_system(2)	4			OV - Ovarian serous cystadenocarcinoma(10;0.00559)											0.426829	110.48987	110.876663	35	47	KEEP	---	---	---	---	capture		Silent	SNP	28934526	28934526	4960	18	A	T	T	T	80	7	DSG1	3	3
C18orf34	374864	broad.mit.edu	37	18	30803087	30803087	+	Missense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:30803087C>T	uc010xbr.1	-	c.1915G>A	c.(1915-1917)GCA>ACA	p.A639T	C18orf34_uc010dme.1_Missense_Mutation_p.A153T|C18orf34_uc002kxn.2_Missense_Mutation_p.A639T|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Intron|C18orf34_uc002kxp.2_Missense_Mutation_p.A639T	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	639										ovary(1)	1														0.170732	12.997168	17.204091	7	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30803087	30803087	1963	18	C	T	T	T	325	25	C18orf34	2	2
SLC14A2	8170	broad.mit.edu	37	18	43221223	43221223	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:43221223C>A	uc010dnj.2	+	c.1041C>A	c.(1039-1041)AGC>AGA	p.S347R	SLC14A2_uc002lbb.2_Missense_Mutation_p.S347R|SLC14A2_uc002lbe.2_Missense_Mutation_p.S347R	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	347	Helical; (Potential).					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2														0.297297	29.243575	30.584252	11	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43221223	43221223	14892	18	C	A	A	A	363	28	SLC14A2	2	2
MBD1	4152	broad.mit.edu	37	18	47802296	47802296	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:47802296C>A	uc010xdi.1	-	c.650G>T	c.(649-651)TGC>TTC	p.C217F	MBD1_uc002lef.2_Intron|MBD1_uc002leg.2_Intron|MBD1_uc010dow.1_Missense_Mutation_p.C191F|MBD1_uc002leh.3_Missense_Mutation_p.C191F|MBD1_uc002len.2_Missense_Mutation_p.C191F|MBD1_uc002lei.3_Missense_Mutation_p.C191F|MBD1_uc002lej.3_Missense_Mutation_p.C191F|MBD1_uc002lek.3_Intron|MBD1_uc002lel.3_Missense_Mutation_p.C191F|MBD1_uc002lem.3_Missense_Mutation_p.C191F|MBD1_uc010xdj.1_Missense_Mutation_p.C191F|MBD1_uc010xdk.1_Missense_Mutation_p.C191F|MBD1_uc010dox.1_Missense_Mutation_p.C191F|MBD1_uc002leo.2_Missense_Mutation_p.C191F	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1 isoform 1	191	CXXC-type 1.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription repressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2														0.529412	57.281834	57.311266	18	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47802296	47802296	9726	18	C	A	A	A	325	25	MBD1	2	2
CDH7	1005	broad.mit.edu	37	18	63548088	63548088	+	Silent	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:63548088C>A	uc002ljz.2	+	c.2316C>A	c.(2314-2316)CTC>CTA	p.L772L	CDH7_uc002lkb.2_Silent_p.L772L	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	772	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)												0.30137	63.44541	66.005599	22	51	KEEP	---	---	---	---	capture		Silent	SNP	63548088	63548088	3244	18	C	A	A	A	392	31	CDH7	1	1
LAMA1	284217	broad.mit.edu	37	18	6973142	6973142	+	Missense_Mutation	SNP	T	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:6973142T>C	uc002knm.2	-	c.6688A>G	c.(6688-6690)ACA>GCA	p.T2230A	LAMA1_uc010wzj.1_Missense_Mutation_p.T1706A	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2230	Laminin G-like 1.				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				0.643836	170.776032	172.131548	47	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6973142	6973142	8928	18	T	C	C	C	780	60	LAMA1	4	4
GRIN3B	116444	broad.mit.edu	37	19	1004961	1004961	+	Silent	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:1004961G>A	uc002lqo.1	+	c.1461G>A	c.(1459-1461)CTG>CTA	p.L487L		NM_138690	NP_619635	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic,	487	Extracellular (Potential).				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity				0		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)									0.695652	56.708878	57.494414	16	7	KEEP	---	---	---	---	capture		Silent	SNP	1004961	1004961	7063	19	G	A	A	A	600	47	GRIN3B	2	2
KEAP1	9817	broad.mit.edu	37	19	10600330	10600330	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10600330C>A	uc002moq.1	-	c.1525G>T	c.(1525-1527)GGG>TGG	p.G509W	KEAP1_uc002mop.1_Missense_Mutation_p.G227W|KEAP1_uc002mor.1_Missense_Mutation_p.G509W	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	509	Kelch 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(2)|ovary(1)|pancreas(1)	4			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)											0.666667	87.261216	88.220033	26	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10600330	10600330	8447	19	C	A	A	A	299	23	KEAP1	1	1
CACNA1A	773	broad.mit.edu	37	19	13365936	13365936	+	Silent	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:13365936G>A	uc002mwy.3	-	c.4728C>T	c.(4726-4728)GCC>GCT	p.A1576A	CACNA1A_uc010xnd.1_Silent_p.A282A|CACNA1A_uc002mwx.3_Silent_p.A282A|CACNA1A_uc010dzc.2_Silent_p.A1102A|CACNA1A_uc010dze.2_Silent_p.A1577A|CACNA1A_uc010xne.1_Silent_p.A1105A|CACNA1A_uc002mwv.3_Silent_p.A93A	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 4	1577	Helical; Name=S1 of repeat IV; (Potential).|IV.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)									0.181818	11.628216	14.769772	6	27	KEEP	---	---	---	---	capture		Silent	SNP	13365936	13365936	2654	19	G	A	A	A	548	43	CACNA1A	2	2
OR10H5	284433	broad.mit.edu	37	19	15905665	15905665	+	Silent	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15905665G>T	uc010xos.1	+	c.807G>T	c.(805-807)CCG>CCT	p.P269P		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H,	269	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.634146	85.650319	86.29799	26	15	KEEP	---	---	---	---	capture		Silent	SNP	15905665	15905665	11315	19	G	T	T	T	496	39	OR10H5	1	1
ZNF676	163223	broad.mit.edu	37	19	22362793	22362793	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22362793C>A	uc002nqs.1	-	c.1726G>T	c.(1726-1728)GTT>TTT	p.V576F		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	576	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)												0.512195	68.098441	68.104912	21	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22362793	22362793	18678	19	C	A	A	A	221	17	ZNF676	2	2
LMNB2	84823	broad.mit.edu	37	19	2434013	2434013	+	Silent	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:2434013C>A	uc002lwa.1	-	c.1293G>T	c.(1291-1293)CTG>CTT	p.L431L	LMNB2_uc002lvy.2_Silent_p.L411L	NM_032737	NP_116126	Q03252	LMNB2_HUMAN	lamin B2	411	Tail.					nuclear inner membrane	structural molecule activity			large_intestine(1)|ovary(1)	2		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)						1275				0.7	22.539817	22.912544	7	3	KEEP	---	---	---	---	capture		Silent	SNP	2434013	2434013	9179	19	C	A	A	A	262	21	LMNB2	2	2
TSHZ3	57616	broad.mit.edu	37	19	31768533	31768533	+	Missense_Mutation	SNP	C	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31768533C>G	uc002nsy.3	-	c.2166G>C	c.(2164-2166)TTG>TTC	p.L722F		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	722					regulation of respiratory gaseous exchange by neurological system process|regulation of transcription, DNA-dependent	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|skin(1)	7	Esophageal squamous(110;0.226)													0.282609	39.055819	41.008425	13	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31768533	31768533	17176	19	C	G	G	G	376	29	TSHZ3	3	3
RYR1	6261	broad.mit.edu	37	19	38995479	38995479	+	Nonsense_Mutation	SNP	C	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38995479C>G	uc002oit.2	+	c.8159C>G	c.(8158-8160)TCA>TGA	p.S2720*	RYR1_uc002oiu.2_Nonsense_Mutation_p.S2720*|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2720	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)	10	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)									0.4	46.334957	46.643101	14	21	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	38995479	38995479	14248	19	C	G	G	G	377	29	RYR1	5	3
IGFL1	374918	broad.mit.edu	37	19	46733709	46733709	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:46733709C>A	uc002pee.2	+	c.258C>A	c.(256-258)TTC>TTA	p.F86L		NM_198541	NP_940943	Q6UW32	IGFL1_HUMAN	IGF-like family member 1 precursor	86						extracellular space					0		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201)										0.692308	234.329147	237.758085	72	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46733709	46733709	7887	19	C	A	A	A	376	29	IGFL1	2	2
KDM4B	23030	broad.mit.edu	37	19	5032934	5032934	+	Silent	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:5032934C>T	uc010xim.1	+	c.33C>T	c.(31-33)CCC>CCT	p.P11P	KDM4B_uc010xil.1_Silent_p.P11P|KDM4B_uc002mbq.3_Silent_p.P11P	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	11					chromatin modification|oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			lung(1)	1														0.712329	358.360264	364.270544	104	42	KEEP	---	---	---	---	capture		Silent	SNP	5032934	5032934	8435	19	C	T	T	T	262	21	KDM4B	2	2
KLK10	5655	broad.mit.edu	37	19	51522352	51522352	+	Missense_Mutation	SNP	G	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51522352G>C	uc002puy.2	-	c.35C>G	c.(34-36)TCT>TGT	p.S12C	KLK10_uc002puz.2_Missense_Mutation_p.S12C|KLK10_uc002pva.2_Missense_Mutation_p.S12C	NM_145888	NP_665895	O43240	KLK10_HUMAN	kallikrein-related peptidase 10 preproprotein	12					cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity			lung(2)	2		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)										0.818182	29.67922	30.724244	9	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51522352	51522352	8712	19	G	C	C	C	429	33	KLK10	3	3
KLK13	26085	broad.mit.edu	37	19	51561823	51561823	+	Missense_Mutation	SNP	G	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51561823G>C	uc002pvn.2	-	c.617C>G	c.(616-618)ACA>AGA	p.T206R	KLK13_uc002pvl.2_Non-coding_Transcript|KLK13_uc002pvm.2_Non-coding_Transcript|KLK13_uc002pvo.2_Non-coding_Transcript|KLK13_uc002pvp.2_Non-coding_Transcript|KLK13_uc010eon.2_Missense_Mutation_p.T133R|KLK13_uc002pvq.2_Non-coding_Transcript|KLK13_uc010eoo.2_Missense_Mutation_p.T54R	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN	kallikrein 13 precursor	206	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)										0.347518	158.037237	160.92874	49	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51561823	51561823	8715	19	G	C	C	C	624	48	KLK13	3	3
ELANE	1991	broad.mit.edu	37	19	855664	855664	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:855664G>T	uc002lqb.2	+	c.467G>T	c.(466-468)TGG>TTG	p.W156L		NM_001972	NP_001963	P08246	ELNE_HUMAN	neutrophil elastase preproprotein	156	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			pancreas(1)	1					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)									0.777778	186.315605	191.417723	56	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	855664	855664	5239	19	G	T	T	T	611	47	ELANE	2	2
CASZ1	54897	broad.mit.edu	37	1	10714191	10714191	+	Silent	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:10714191G>A	uc001aro.2	-	c.1923C>T	c.(1921-1923)GCC>GCT	p.A641A	CASZ1_uc001arp.1_Silent_p.A641A|CASZ1_uc009vmx.2_Silent_p.A665A	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	641					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)										0.641791	132.233165	133.422369	43	24	KEEP	---	---	---	---	capture		Silent	SNP	10714191	10714191	2804	1	G	A	A	A	600	47	CASZ1	2	2
NTNG1	22854	broad.mit.edu	37	1	107691419	107691420	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:107691419_107691420GG>TT	uc001dvh.3	+	c.204_205GG>TT	c.(202-207)CCGGAT>CCTTAT	p.D69Y	NTNG1_uc001dvf.3_Missense_Mutation_p.D69Y|NTNG1_uc010out.1_Missense_Mutation_p.D69Y|NTNG1_uc001dvc.3_Missense_Mutation_p.D69Y|NTNG1_uc001dvd.1_Missense_Mutation_p.D69Y	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	69	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)	4		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)										0.273684	75.733734	80.101863	26	69	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	107691419	107691420	11109	1	GG	TT	TT	TT	496	39	NTNG1	1	1
C1orf59	113802	broad.mit.edu	37	1	109200156	109200156	+	Missense_Mutation	SNP	T	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:109200156T>C	uc001dvt.3	-	c.67A>G	c.(67-69)ACG>GCG	p.T23A	C1orf59_uc001dvu.3_Missense_Mutation_p.T23A|C1orf59_uc009wer.2_Missense_Mutation_p.T23A	NM_001102592	NP_001096062	Q5T8I9	HENMT_HUMAN	hypothetical protein LOC113802	23					gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity				0		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0152)|Lung(183;0.0895)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.163)										0.297872	40.752848	42.457558	14	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109200156	109200156	2125	1	T	C	C	C	754	58	C1orf59	4	4
KCNC4	3749	broad.mit.edu	37	1	110765692	110765692	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:110765692G>T	uc009wfr.2	+	c.785G>T	c.(784-786)CGC>CTC	p.R262L	KCNC4_uc001dzf.2_Missense_Mutation_p.R262L|KCNC4_uc001dzg.2_Missense_Mutation_p.R262L|KCNC4_uc001dzh.2_Missense_Mutation_p.R262L|KCNC4_uc001dzi.2_Non-coding_Transcript	NM_001039574	NP_001034663	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	262					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)										0.353659	89.927055	91.441938	29	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110765692	110765692	8322	1	G	T	T	T	494	38	KCNC4	1	1
AADACL4	343066	broad.mit.edu	37	1	12726347	12726347	+	Silent	SNP	A	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:12726347A>G	uc001auf.2	+	c.825A>G	c.(823-825)CCA>CCG	p.P275P		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	275	Lumenal (Potential).					integral to membrane	carboxylesterase activity				0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)										0.327434	107.64073	110.622777	37	76	KEEP	---	---	---	---	capture		Silent	SNP	12726347	12726347	14	1	A	G	G	G	80	7	AADACL4	4	4
GJA5	2702	broad.mit.edu	37	1	147231223	147231223	+	Missense_Mutation	SNP	C	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:147231223C>G	uc001eps.1	-	c.124G>C	c.(124-126)GAG>CAG	p.E42Q	GJA5_uc001ept.1_Missense_Mutation_p.E42Q	NM_181703	NP_859054	P36382	CXA5_HUMAN	connexin 40	42	Extracellular (Potential).				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				ovary(1)	1	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)											0.291667	65.745694	68.544662	21	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147231223	147231223	6672	1	C	G	G	G	377	29	GJA5	3	3
FLG	2312	broad.mit.edu	37	1	152276642	152276642	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152276642C>A	uc001ezu.1	-	c.10720G>T	c.(10720-10722)GGC>TGC	p.G3574C		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3574	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)	9	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.207921	198.679137	230.476931	84	320	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152276642	152276642	6160	1	C	A	A	A	273	21	FLG	2	2
FLG	2312	broad.mit.edu	37	1	152284648	152284648	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152284648C>A	uc001ezu.1	-	c.2714G>T	c.(2713-2715)GGC>GTC	p.G905V		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	905	Ser-rich.|Filaggrin 5.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)	9	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.392354	556.731577	561.759683	195	302	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152284648	152284648	6160	1	C	A	A	A	338	26	FLG	2	2
FLG	2312	broad.mit.edu	37	1	152284712	152284712	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152284712G>T	uc001ezu.1	-	c.2650C>A	c.(2650-2652)CGT>AGT	p.R884S		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	884	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)	9	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.375899	653.584605	661.043482	209	347	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152284712	152284712	6160	1	G	T	T	T	507	39	FLG	1	1
FLG2	388698	broad.mit.edu	37	1	152331282	152331282	+	Missense_Mutation	SNP	T	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152331282T>G	uc001ezw.3	-	c.79A>C	c.(79-81)ACA>CCA	p.T27P		NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	27	S-100-like (By similarity).|EF-hand 1.						calcium ion binding|structural molecule activity			ovary(9)|breast(1)	10	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.409938	210.11149	211.224366	66	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152331282	152331282	6161	1	T	G	G	G	767	59	FLG2	4	4
YY1AP1	55249	broad.mit.edu	37	1	155642500	155642500	+	Missense_Mutation	SNP	T	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155642500T>C	uc010pgi.1	-	c.848A>G	c.(847-849)CAA>CGA	p.Q283R	YY1AP1_uc001flg.2_5'Flank|YY1AP1_uc010pgg.1_Missense_Mutation_p.Q50R|YY1AP1_uc010pgh.1_Missense_Mutation_p.Q134R|YY1AP1_uc001flh.2_Missense_Mutation_p.Q283R|YY1AP1_uc009wqt.2_Missense_Mutation_p.Q134R|YY1AP1_uc001flk.2_Missense_Mutation_p.Q134R|YY1AP1_uc001fll.2_Missense_Mutation_p.Q145R|YY1AP1_uc009wqv.2_5'UTR|YY1AP1_uc001flm.2_Missense_Mutation_p.Q134R|YY1AP1_uc001fli.2_Missense_Mutation_p.Q145R|YY1AP1_uc009wqu.2_5'UTR|YY1AP1_uc001flj.2_Missense_Mutation_p.Q145R|YY1AP1_uc009wqw.2_Missense_Mutation_p.Q134R|YY1AP1_uc001flo.2_Missense_Mutation_p.Q79R|YY1AP1_uc001flp.2_Missense_Mutation_p.Q145R|YY1AP1_uc001fln.2_Missense_Mutation_p.Q211R|YY1AP1_uc010pgj.1_Missense_Mutation_p.Q211R|YY1AP1_uc009wqx.2_Missense_Mutation_p.Q283R|YY1AP1_uc010pgk.1_Missense_Mutation_p.Q283R	NM_139119	NP_620830	Q9H869	YYAP1_HUMAN	YY1-associated protein isoform 3	211					regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			ovary(2)	2	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)													0.210526	28.266761	32.686965	12	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155642500	155642500	18091	1	T	C	C	C	819	63	YY1AP1	4	4
INSRR	3645	broad.mit.edu	37	1	156811945	156811945	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156811945C>A	uc010pht.1	-	c.3356G>T	c.(3355-3357)CGC>CTC	p.R1119L	NTRK1_uc001fqf.1_Silent_p.R28R|NTRK1_uc009wsi.1_5'UTR	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	1119	Cytoplasmic (Potential).|Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(7)|ovary(4)|kidney(1)|central_nervous_system(1)|skin(1)	14	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)									299				0.347826	23.794442	24.263903	8	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156811945	156811945	8075	1	C	A	A	A	351	27	INSRR	1	1
DARC	2532	broad.mit.edu	37	1	159176146	159176146	+	Missense_Mutation	SNP	T	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159176146T>A	uc001ftp.3	+	c.923T>A	c.(922-924)CTA>CAA	p.L308Q	DARC_uc001fto.2_Missense_Mutation_p.L306Q	NM_001122951	NP_001116423	Q16570	DUFFY_HUMAN	Duffy blood group antigen isoform a	306	Helical; Name=7; (Potential).				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			ovary(1)|lung(1)	2	all_hematologic(112;0.0429)													0.387097	419.452101	423.590495	144	228	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159176146	159176146	4407	1	T	A	A	A	689	53	DARC	3	3
OR10J1	26476	broad.mit.edu	37	1	159409741	159409741	+	Missense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159409741C>T	uc010piv.1	+	c.193C>T	c.(193-195)CAT>TAT	p.H65Y		NM_012351	NP_036483	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J,	65	Cytoplasmic (Potential).				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0429)													0.195804	57.842326	70.160782	28	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159409741	159409741	11316	1	C	T	T	T	377	29	OR10J1	2	2
FBLIM1	54751	broad.mit.edu	37	1	16091649	16091649	+	Silent	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:16091649G>A	uc001axg.1	+	c.171G>A	c.(169-171)GCG>GCA	p.A57A	FBLIM1_uc001axd.1_Silent_p.A57A|FBLIM1_uc001axe.1_Silent_p.A57A|FBLIM1_uc001axf.2_Non-coding_Transcript|FBLIM1_uc001axh.1_Silent_p.A57A|FBLIM1_uc001axi.1_Silent_p.A57A	NM_001024215	NP_001019386	Q8WUP2	FBLI1_HUMAN	filamin-binding LIM protein-1 isoform b	57	Filamin-binding.|Pro-rich.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding				0		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)										0.388889	41.842219	42.231283	14	22	KEEP	---	---	---	---	capture		Silent	SNP	16091649	16091649	5933	1	G	A	A	A	496	39	FBLIM1	1	1
GLT25D2	23127	broad.mit.edu	37	1	183920145	183920145	+	Nonsense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:183920145C>A	uc001gqr.2	-	c.1132G>T	c.(1132-1134)GGA>TGA	p.G378*	GLT25D2_uc010poj.1_Nonsense_Mutation_p.G378*|GLT25D2_uc001gqq.2_Nonsense_Mutation_p.G115*|GLT25D2_uc001gqs.2_Nonsense_Mutation_p.G258*	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	glycosyltransferase 25 domain containing 2	378					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			ovary(1)|breast(1)	2						Esophageal Squamous(10;42 606 18489 38825)								0.25	130.933797	142.523408	51	153	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	183920145	183920145	6735	1	C	A	A	A	273	21	GLT25D2	5	2
RGS13	6003	broad.mit.edu	37	1	192613467	192613467	+	Missense_Mutation	SNP	G	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:192613467G>C	uc001gsj.2	+	c.3G>C	c.(1-3)ATG>ATC	p.M1I	RGS13_uc001gsk.2_Missense_Mutation_p.M1I	NM_002927	NP_002918	O14921	RGS13_HUMAN	regulator of G-protein signalling 13	1						plasma membrane	GTPase activator activity|signal transducer activity				0														0.215686	59.808691	67.408263	22	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	192613467	192613467	13770	1	G	C	C	C	585	45	RGS13	3	3
CFHR1	3078	broad.mit.edu	37	1	196794686	196794686	+	Silent	SNP	T	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196794686T>C	uc001gtn.2	+	c.138T>C	c.(136-138)CCT>CCC	p.P46P	CFHR1_uc001gtm.2_Intron	NM_002113	NP_002104	Q03591	FHR1_HUMAN	complement factor H-related 1 precursor	46	Sushi 1.				complement activation	extracellular space					0														0.172414	24.816202	30.693573	10	48	KEEP	---	---	---	---	capture		Silent	SNP	196794686	196794686	3417	1	T	C	C	C	678	53	CFHR1	4	4
CFHR5	81494	broad.mit.edu	37	1	196953241	196953241	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196953241C>A	uc001gts.3	+	c.404C>A	c.(403-405)TCC>TAC	p.S135Y		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	complement factor H-related 5 precursor	135	Sushi 2.				complement activation, alternative pathway	extracellular region				breast(1)	1														0.233333	16.709624	18.662454	7	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196953241	196953241	3421	1	C	A	A	A	390	30	CFHR5	2	2
ASPM	259266	broad.mit.edu	37	1	197070516	197070516	+	Missense_Mutation	SNP	T	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197070516T>A	uc001gtu.2	-	c.7865A>T	c.(7864-7866)CAG>CTG	p.Q2622L	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.Q470L	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2622					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6														0.395349	48.542949	48.96129	17	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197070516	197070516	1075	1	T	A	A	A	715	55	ASPM	3	3
ASPM	259266	broad.mit.edu	37	1	197111524	197111524	+	Missense_Mutation	SNP	C	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197111524C>G	uc001gtu.2	-	c.1858G>C	c.(1858-1860)GTG>CTG	p.V620L	ASPM_uc001gtv.2_Missense_Mutation_p.V620L|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	620					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6														0.23348	142.385921	157.143541	53	174	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197111524	197111524	1075	1	C	G	G	G	221	17	ASPM	3	3
IGFN1	91156	broad.mit.edu	37	1	201185815	201185815	+	Missense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:201185815C>T	uc001gwc.2	+	c.1009C>T	c.(1009-1011)CGG>TGG	p.R337W	IGFN1_uc001gwb.2_Non-coding_Transcript	NM_178275	NP_840059			RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;											ovary(2)|pancreas(1)	3														0.481481	77.254539	77.269979	26	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	201185815	201185815	7891	1	C	T	T	T	347	27	IGFN1	1	1
LMOD1	25802	broad.mit.edu	37	1	201869186	201869186	+	Missense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:201869186C>T	uc001gxb.2	-	c.955G>A	c.(955-957)GAT>AAT	p.D319N	LMOD1_uc010ppu.1_Missense_Mutation_p.D268N	NM_012134	NP_036266	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	319					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			ovary(1)|pancreas(1)|skin(1)	3														0.21875	15.509662	17.841253	7	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	201869186	201869186	9185	1	C	T	T	T	377	29	LMOD1	2	2
PRKCZ	5590	broad.mit.edu	37	1	2077475	2077475	+	Missense_Mutation	SNP	A	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:2077475A>G	uc001aiq.2	+	c.562A>G	c.(562-564)ATG>GTG	p.M188V	PRKCZ_uc001air.2_Missense_Mutation_p.M5V|PRKCZ_uc010nyw.1_Missense_Mutation_p.M84V|PRKCZ_uc001ais.2_Missense_Mutation_p.M5V|PRKCZ_uc009vla.2_Missense_Mutation_p.M12V|PRKCZ_uc010nyx.1_Non-coding_Transcript|PRKCZ_uc009vlb.2_Missense_Mutation_p.M1V	NM_002744	NP_002735	Q05513	KPCZ_HUMAN	protein kinase C, zeta isoform 1	188					anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|insulin receptor substrate binding|protein kinase C activity|zinc ion binding			central_nervous_system(4)|large_intestine(2)	6	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)						2432				0.253968	37.971541	41.432406	16	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2077475	2077475	12960	1	A	G	G	G	104	8	PRKCZ	4	4
USH2A	7399	broad.mit.edu	37	1	216138678	216138679	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216138678_216138679CC>AA	uc001hku.1	-	c.7100_7101GG>TT	c.(7099-7101)GGG>GTT	p.G2367V		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2367	Extracellular (Potential).|Fibronectin type-III 10.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.236641	73.974319	82.269089	31	100	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	216138678	216138679	17598	1	CC	AA	AA	AA	379	30	USH2A	2	2
MIA3	375056	broad.mit.edu	37	1	222801057	222801057	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:222801057G>T	uc001hnl.2	+	c.495G>T	c.(493-495)ATG>ATT	p.M165I	MIA3_uc009xea.1_Missense_Mutation_p.M1I	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	165	Extracellular (Potential).				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)										0.428571	93.838899	94.150374	30	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	222801057	222801057	9955	1	G	T	T	T	611	47	MIA3	2	2
MIA3	375056	broad.mit.edu	37	1	222833533	222833533	+	Missense_Mutation	SNP	A	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:222833533A>T	uc001hnl.2	+	c.4990A>T	c.(4990-4992)AAT>TAT	p.N1664Y	MIA3_uc001hnm.2_Missense_Mutation_p.N542Y	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1664	Pro-rich.|Cytoplasmic (Potential).				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)										0.666667	119.5542	120.952477	38	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	222833533	222833533	9955	1	A	T	T	T	117	9	MIA3	3	3
LEFTY1	10637	broad.mit.edu	37	1	226075725	226075725	+	Silent	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:226075725G>T	uc001hpo.2	-	c.258C>A	c.(256-258)GCC>GCA	p.A86A	LEFTY1_uc010pvj.1_Silent_p.R195R|LEFTY1_uc009xej.1_Silent_p.A86A	NM_020997	NP_066277	O75610	LFTY1_HUMAN	left-right determination, factor B	86					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding				0	Breast(184;0.197)													0.304348	20.718978	21.503014	7	16	KEEP	---	---	---	---	capture		Silent	SNP	226075725	226075725	9039	1	G	T	T	T	496	39	LEFTY1	1	1
SIPA1L2	57568	broad.mit.edu	37	1	232600588	232600588	+	Missense_Mutation	SNP	C	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:232600588C>G	uc001hvg.2	-	c.2818G>C	c.(2818-2820)GTA>CTA	p.V940L	SIPA1L2_uc001hvf.2_5'Flank	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	940					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)												0.211538	28.496458	32.496832	11	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	232600588	232600588	14825	1	C	G	G	G	260	20	SIPA1L2	3	3
SIPA1L2	57568	broad.mit.edu	37	1	232600610	232600610	+	Silent	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:232600610G>A	uc001hvg.2	-	c.2796C>T	c.(2794-2796)ATC>ATT	p.I932I	SIPA1L2_uc001hvf.2_5'Flank	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	932					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)												0.166667	22.085361	29.03683	11	55	KEEP	---	---	---	---	capture		Silent	SNP	232600610	232600610	14825	1	G	A	A	A	577	45	SIPA1L2	2	2
HEATR1	55127	broad.mit.edu	37	1	236760239	236760239	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236760239C>A	uc001hyd.1	-	c.641G>T	c.(640-642)AGG>ATG	p.R214M		NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	214					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)	2	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)											0.488636	132.118608	132.128584	43	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	236760239	236760239	7310	1	C	A	A	A	312	24	HEATR1	2	2
RYR2	6262	broad.mit.edu	37	1	237948014	237948014	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237948014G>T	uc001hyl.1	+	c.13002G>T	c.(13000-13002)ATG>ATT	p.M4334I	RYR2_uc010pya.1_Missense_Mutation_p.M749I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4334					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.333333	41.707787	42.815925	15	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237948014	237948014	14249	1	G	T	T	T	598	46	RYR2	2	2
ZP4	57829	broad.mit.edu	37	1	238048073	238048073	+	Silent	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:238048073G>A	uc001hym.2	-	c.1386C>T	c.(1384-1386)CTC>CTT	p.L462L	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	462	ZP.|Extracellular (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(1)	1	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			NSCLC(166;160 2029 11600 18754 19936)								0.222222	18.411875	20.945593	8	28	KEEP	---	---	---	---	capture		Silent	SNP	238048073	238048073	18822	1	G	A	A	A	574	45	ZP4	2	2
RGS7	6000	broad.mit.edu	37	1	241094038	241094038	+	Nonsense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:241094038C>A	uc001hyv.2	-	c.364G>T	c.(364-366)GAG>TAG	p.E122*	RGS7_uc010pyh.1_Nonsense_Mutation_p.E96*|RGS7_uc010pyj.1_Nonsense_Mutation_p.E38*|RGS7_uc001hyu.2_Nonsense_Mutation_p.E122*|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Nonsense_Mutation_p.E122*	NM_002924	NP_002915	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	122					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			ovary(4)|kidney(1)	5		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)											0.516129	228.828851	228.858431	80	75	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	241094038	241094038	13784	1	C	A	A	A	390	30	RGS7	5	2
EXO1	9156	broad.mit.edu	37	1	242030245	242030245	+	Silent	SNP	A	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:242030245A>T	uc001hzh.2	+	c.1155A>T	c.(1153-1155)TCA>TCT	p.S385S	EXO1_uc001hzi.2_Silent_p.S385S|EXO1_uc001hzj.2_Silent_p.S385S|EXO1_uc009xgq.2_Silent_p.S385S	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	385	Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)											0.539683	112.252516	112.338596	34	29	KEEP	---	---	---	---	capture		Silent	SNP	242030245	242030245	5493	1	A	T	T	T	80	7	EXO1	3	3
KIF26B	55083	broad.mit.edu	37	1	245848894	245848895	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:245848894_245848895CC>AA	uc001ibf.1	+	c.2609_2610CC>AA	c.(2608-2610)CCC>CAA	p.P870Q	KIF26B_uc001ibg.1_Missense_Mutation_p.P488Q|KIF26B_uc001ibh.1_Missense_Mutation_p.P112Q	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	870					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)											0.588235	30.022258	30.132977	10	7	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	245848894	245848895	8606	1	CC	AA	AA	AA	286	22	KIF26B	2	2
CNST	163882	broad.mit.edu	37	1	246811078	246811078	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:246811078G>T	uc001ibp.2	+	c.1575G>T	c.(1573-1575)GAG>GAT	p.E525D	CNST_uc001ibo.3_Missense_Mutation_p.E525D	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1	525					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0														0.48	146.486287	146.521423	48	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	246811078	246811078	3772	1	G	T	T	T	451	35	CNST	2	2
NLRP3	114548	broad.mit.edu	37	1	247587935	247587935	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247587935G>T	uc001icr.2	+	c.1190G>T	c.(1189-1191)AGT>ATT	p.S397I	NLRP3_uc001ics.2_Missense_Mutation_p.S397I|NLRP3_uc001icu.2_Missense_Mutation_p.S397I|NLRP3_uc001icw.2_Missense_Mutation_p.S397I|NLRP3_uc001icv.2_Missense_Mutation_p.S397I|NLRP3_uc010pyw.1_Missense_Mutation_p.S395I|NLRP3_uc001ict.1_Missense_Mutation_p.S395I	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	397	NACHT.				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				0.508475	95.540941	95.544732	30	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247587935	247587935	10881	1	G	T	T	T	468	36	NLRP3	2	2
OR1C1	26188	broad.mit.edu	37	1	247921054	247921054	+	Nonsense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247921054C>A	uc010pza.1	-	c.655G>T	c.(655-657)GGA>TGA	p.G219*		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C,	219	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)											0.285714	22.610682	23.751098	8	20	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	247921054	247921054	11358	1	C	A	A	A	273	21	OR1C1	5	2
OR2T3	343173	broad.mit.edu	37	1	248636689	248636689	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248636689C>A	uc001iel.1	+	c.38C>A	c.(37-39)GCA>GAA	p.A13E		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T,	13	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.318182	81.767026	84.353807	28	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248636689	248636689	11429	1	C	A	A	A	325	25	OR2T3	2	2
MMEL1	79258	broad.mit.edu	37	1	2530196	2530196	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:2530196G>T	uc001ajy.2	-	c.1075C>A	c.(1075-1077)CTA>ATA	p.L359I	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	359	Lumenal (Potential).				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity				0	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)										0.405405	45.718604	46.007758	15	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2530196	2530196	10036	1	G	T	T	T	438	34	MMEL1	2	2
MMEL1	79258	broad.mit.edu	37	1	2538455	2538455	+	Missense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:2538455C>T	uc001ajy.2	-	c.589G>A	c.(589-591)GGA>AGA	p.G197R	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	197	Lumenal (Potential).				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity				0	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)										0.461538	93.943029	94.026728	30	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2538455	2538455	10036	1	C	T	T	T	286	22	MMEL1	2	2
PRDM16	63976	broad.mit.edu	37	1	3103017	3103017	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:3103017G>T	uc001akf.2	+	c.366G>T	c.(364-366)AAG>AAT	p.K122N	PRDM16_uc001akc.2_Missense_Mutation_p.K122N|PRDM16_uc001akd.2_Missense_Mutation_p.K122N|PRDM16_uc001ake.2_Missense_Mutation_p.K122N|PRDM16_uc009vlh.2_De_novo_Start_InFrame	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	122	SET.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription activator activity|transcription coactivator activity|transcription repressor activity|zinc ion binding			ovary(1)|lung(1)|central_nervous_system(1)	3	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)						1161				0.368421	19.719544	20.008874	7	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3103017	3103017	12899	1	G	T	T	T	451	35	PRDM16	2	2
MEGF6	1953	broad.mit.edu	37	1	3519121	3519121	+	Missense_Mutation	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:3519121G>A	uc001akl.2	-	c.175C>T	c.(175-177)CGC>TGC	p.R59C		NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	59	EMI.					extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		Ovarian(73;978 3658)								0.617647	72.190228	72.607723	21	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3519121	3519121	9851	1	G	A	A	A	507	39	MEGF6	1	1
HIVEP3	59269	broad.mit.edu	37	1	42046279	42046279	+	Missense_Mutation	SNP	C	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:42046279C>G	uc001cgz.3	-	c.4190G>C	c.(4189-4191)AGA>ACA	p.R1397T	HIVEP3_uc001cha.3_Missense_Mutation_p.R1397T|HIVEP3_uc001cgy.2_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1397					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription activator activity|zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)												0.325581	89.982633	92.297593	28	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42046279	42046279	7479	1	C	G	G	G	416	32	HIVEP3	3	3
TESK2	10420	broad.mit.edu	37	1	45923457	45923457	+	Missense_Mutation	SNP	T	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:45923457T>C	uc001cns.1	-	c.1A>G	c.(1-3)ATG>GTG	p.M1V	TESK2_uc009vxr.1_Missense_Mutation_p.M1V|TESK2_uc010olo.1_Intron|TESK2_uc009vxs.1_5'UTR|TESK2_uc010olp.1_Missense_Mutation_p.M1V	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	testis-specific protein kinase 2	1					actin cytoskeleton organization|focal adhesion assembly|protein phosphorylation|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(2)|pancreas(1)	5	Acute lymphoblastic leukemia(166;0.155)									192				0.243243	27.56136	29.78112	9	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45923457	45923457	16295	1	T	C	C	C	637	49	TESK2	4	4
MKNK1	8569	broad.mit.edu	37	1	47024441	47024441	+	Missense_Mutation	SNP	C	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:47024441C>G	uc001cqb.2	-	c.1204G>C	c.(1204-1206)GCA>CCA	p.A402P	MKNK1_uc010omd.1_Missense_Mutation_p.A266P|MKNK1_uc001cqc.2_Missense_Mutation_p.A361P|MKNK1_uc009vyi.2_Missense_Mutation_p.R346P|MKNK1_uc010ome.1_Missense_Mutation_p.R251P	NM_003684	NP_003675	Q9BUB5	MKNK1_HUMAN	MAP kinase-interacting serine/threonine kinase 1	402					intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)	2	Acute lymphoblastic leukemia(166;0.155)									255				0.326087	47.245088	48.461022	15	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47024441	47024441	9994	1	C	G	G	G	351	27	MKNK1	3	3
RNF207	388591	broad.mit.edu	37	1	6266722	6266722	+	Missense_Mutation	SNP	G	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:6266722G>C	uc001amg.2	+	c.127G>C	c.(127-129)GAC>CAC	p.D43H	RNF207_uc001amf.1_Missense_Mutation_p.D43H|RNF207_uc001amh.2_5'Flank|RNF207_uc010nzp.1_5'Flank	NM_207396	NP_997279	Q6ZRF8	RN207_HUMAN	ring finger protein 207	43	RING-type.					intracellular	zinc ion binding				0	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)										0.488889	69.948562	69.953373	22	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6266722	6266722	13952	1	G	C	C	C	481	37	RNF207	3	3
SGIP1	84251	broad.mit.edu	37	1	67147825	67147825	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:67147825C>A	uc001dcr.2	+	c.1088C>A	c.(1087-1089)CCT>CAT	p.P363H	SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|SGIP1_uc009wat.2_Missense_Mutation_p.P130H	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	363	Pro-rich.				intracellular protein transport|positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess|vesicle-mediated transport	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3														0.622642	199.04162	200.440715	66	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67147825	67147825	14697	1	C	A	A	A	312	24	SGIP1	2	2
SGIP1	84251	broad.mit.edu	37	1	67185020	67185020	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:67185020C>A	uc001dcr.2	+	c.1674C>A	c.(1672-1674)GAC>GAA	p.D558E	SGIP1_uc010opd.1_Missense_Mutation_p.D158E|SGIP1_uc001dcs.2_Missense_Mutation_p.D158E|SGIP1_uc001dct.2_Missense_Mutation_p.D160E|SGIP1_uc009wat.2_Missense_Mutation_p.D352E|SGIP1_uc001dcu.2_Missense_Mutation_p.D63E	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	558					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														0.384615	15.172992	15.324332	5	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67185020	67185020	14697	1	C	A	A	A	220	17	SGIP1	2	2
COL24A1	255631	broad.mit.edu	37	1	86524848	86524848	+	Missense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:86524848C>T	uc001dlj.2	-	c.1762G>A	c.(1762-1764)GGA>AGA	p.G588R	COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_Non-coding_Transcript|COL24A1_uc010ose.1_Non-coding_Transcript|COL24A1_uc010osf.1_Non-coding_Transcript|COL24A1_uc009wcq.2_Missense_Mutation_p.G588R	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	588	Collagen-like 2.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)	4				all cancers(265;0.0627)|Epithelial(280;0.0689)										0.257143	24.659065	26.529928	9	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86524848	86524848	3821	1	C	T	T	T	312	24	COL24A1	2	2
BRDT	676	broad.mit.edu	37	1	92442839	92442839	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:92442839G>T	uc010osz.1	+	c.870G>T	c.(868-870)AAG>AAT	p.K290N	BRDT_uc001dok.3_Missense_Mutation_p.K286N|BRDT_uc001dol.3_Missense_Mutation_p.K286N|BRDT_uc009wdf.2_Missense_Mutation_p.K213N|BRDT_uc010ota.1_Missense_Mutation_p.K240N|BRDT_uc010otb.1_Missense_Mutation_p.K240N|BRDT_uc001dom.3_Missense_Mutation_p.K286N	NM_207189	NP_997072	Q58F21	BRDT_HUMAN	testis-specific bromodomain protein	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(1)|ovary(1)|lung(1)	3		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)						576				0.494253	128.703069	128.705594	43	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92442839	92442839	1539	1	G	T	T	T	425	33	BRDT	2	2
PTBP2	58155	broad.mit.edu	37	1	97236293	97236293	+	Silent	SNP	A	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:97236293A>G	uc010otz.1	+	c.351A>G	c.(349-351)GCA>GCG	p.A117A	PTBP2_uc001drn.2_Silent_p.A106A|PTBP2_uc001dro.2_Silent_p.A106A|PTBP2_uc001drp.2_Non-coding_Transcript|PTBP2_uc009wdw.2_Silent_p.A54A|PTBP2_uc001drq.2_Silent_p.A106A|PTBP2_uc001drr.2_Silent_p.A106A|PTBP2_uc010oua.1_Silent_p.A114A|PTBP2_uc001dru.2_Non-coding_Transcript|PTBP2_uc001drm.2_Silent_p.A106A	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	106	RRM 1.						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)										0.608696	168.797442	169.74595	56	36	KEEP	---	---	---	---	capture		Silent	SNP	97236293	97236293	13180	1	A	G	G	G	80	7	PTBP2	4	4
XRN2	22803	broad.mit.edu	37	20	21329033	21329033	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:21329033C>A	uc002wsf.1	+	c.1828C>A	c.(1828-1830)CTA>ATA	p.L610I	XRN2_uc002wsg.1_Missense_Mutation_p.L534I|XRN2_uc010zsk.1_Missense_Mutation_p.L556I	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	610					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding				0														0.404494	204.749036	206.170903	72	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21329033	21329033	18043	20	C	A	A	A	415	32	XRN2	2	2
CST11	140880	broad.mit.edu	37	20	23433431	23433432	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:23433431_23433432CC>AA	uc002wtf.1	-	c.17_18GG>TT	c.(16-18)TGG>TTT	p.W6F	CST11_uc002wtg.1_Missense_Mutation_p.W6F	NM_130794	NP_570612	Q9H112	CST11_HUMAN	cystatin 11 isoform 1 precursor	6					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)													0.371429	39.46586	39.974242	13	22	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	23433431	23433432	4112	20	CC	AA	AA	AA	338	26	CST11	2	2
CST2	1470	broad.mit.edu	37	20	23807252	23807252	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:23807252C>A	uc002wtq.1	-	c.46G>T	c.(46-48)GCT>TCT	p.A16S		NM_001322	NP_001313	P09228	CYTT_HUMAN	cystatin SA precursor	16						extracellular region	cysteine-type endopeptidase inhibitor activity				0						Pancreas(193;496 3017 22514 29918)								0.566667	50.275992	50.392071	17	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23807252	23807252	4113	20	C	A	A	A	338	26	CST2	2	2
NOP56	10528	broad.mit.edu	37	20	2636664	2636664	+	Missense_Mutation	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:2636664G>A	uc002wgh.2	+	c.994G>A	c.(994-996)GAA>AAA	p.E332K	NOP56_uc010zpy.1_Non-coding_Transcript|NOP56_uc002wgi.2_Missense_Mutation_p.E166K|NOP56_uc002wgm.1_Missense_Mutation_p.E79K|SNORD86_uc010gaq.1_5'Flank|SNORD56_uc010gar.2_5'Flank|SNORD57_uc002wgo.1_5'Flank	NM_006392	NP_006383	O00567	NOP56_HUMAN	nucleolar protein 5A	332	Nop.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			ovary(1)|pancreas(1)	2														0.428571	90.852092	91.160228	30	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2636664	2636664	10942	20	G	A	A	A	585	45	NOP56	2	2
C20orf160	140706	broad.mit.edu	37	20	30602724	30602724	+	Silent	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:30602724C>A	uc002wxf.2	+	c.48C>A	c.(46-48)ATC>ATA	p.I16I		NM_080625	NP_542192	Q9NUG4	CT160_HUMAN	hypothetical protein LOC140706	16										central_nervous_system(3)|ovary(1)	4														0.280702	117.352218	124.733376	48	123	KEEP	---	---	---	---	capture		Silent	SNP	30602724	30602724	2170	20	C	A	A	A	382	30	C20orf160	2	2
HCK	3055	broad.mit.edu	37	20	30686834	30686834	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:30686834C>A	uc002wxh.2	+	c.1274C>A	c.(1273-1275)GCT>GAT	p.A425D	HCK_uc010gdy.2_Missense_Mutation_p.A404D|HCK_uc002wxi.2_Missense_Mutation_p.A403D	NM_002110	NP_002101	P08631	HCK_HUMAN	hemopoietic cell kinase isoform p61HCK	425	Protein kinase.				interspecies interaction between organisms|mesoderm development|protein phosphorylation|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)							262				0.214286	73.413153	85.010436	33	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30686834	30686834	7276	20	C	A	A	A	364	28	HCK	2	2
MYH7B	57644	broad.mit.edu	37	20	33582124	33582124	+	Missense_Mutation	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:33582124G>A	uc002xbi.1	+	c.2746G>A	c.(2746-2748)GAG>AAG	p.E916K		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	874	Potential.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)											0.228571	39.061165	43.794504	16	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33582124	33582124	10435	20	G	A	A	A	481	37	MYH7B	1	1
ADAM33	80332	broad.mit.edu	37	20	3652068	3652068	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:3652068C>A	uc002wit.2	-	c.1981G>T	c.(1981-1983)GGG>TGG	p.G661W	ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Missense_Mutation_p.G661W|ADAM33_uc002wis.2_Intron|ADAM33_uc002wiu.2_Intron|ADAM33_uc002wiw.1_Non-coding_Transcript|ADAM33_uc010gba.1_Intron	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33 isoform alpha	661	Extracellular (Potential).|EGF-like.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|ovary(1)|skin(1)	4														0.374046	153.271997	155.08501	49	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3652068	3652068	251	20	C	A	A	A	299	23	ADAM33	1	1
CHD6	84181	broad.mit.edu	37	20	40081486	40081486	+	Missense_Mutation	SNP	T	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:40081486T>A	uc002xka.1	-	c.3217A>T	c.(3217-3219)AGC>TGC	p.S1073C		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1073					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)												0.239437	44.539701	48.940944	17	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40081486	40081486	3463	20	T	A	A	A	715	55	CHD6	3	3
SGK2	10110	broad.mit.edu	37	20	42213633	42213633	+	Missense_Mutation	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:42213633G>A	uc002xkv.2	+	c.1261G>A	c.(1261-1263)GAT>AAT	p.D421N	SGK2_uc002xkt.2_Non-coding_Transcript|SGK2_uc002xkr.2_Missense_Mutation_p.D361N|SGK2_uc010ggm.2_3'UTR|SGK2_uc002xks.2_Missense_Mutation_p.D360N|SGK2_uc002xku.2_Missense_Mutation_p.D361N	NM_016276	NP_057360	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2 isoform	421	AGC-kinase C-terminal.				intracellular protein kinase cascade|protein phosphorylation|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			lung(2)|breast(1)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)							234				0.478723	145.889964	145.925349	45	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42213633	42213633	14700	20	G	A	A	A	533	41	SGK2	2	2
GDAP1L1	78997	broad.mit.edu	37	20	42907638	42907638	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:42907638C>A	uc010zwl.1	+	c.859C>A	c.(859-861)CTC>ATC	p.L287I	GDAP1L1_uc002xlq.2_Missense_Mutation_p.L268I|GDAP1L1_uc010zwm.1_Missense_Mutation_p.L210I|GDAP1L1_uc010zwn.1_Missense_Mutation_p.L76I	NM_024034	NP_076939	Q96MZ0	GD1L1_HUMAN	ganglioside-induced differentiation-associated	268	GST C-terminal.									large_intestine(1)	1		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)											0.224719	48.257845	54.451863	20	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42907638	42907638	6575	20	C	A	A	A	312	24	GDAP1L1	2	2
RIMS4	140730	broad.mit.edu	37	20	43399960	43399960	+	Silent	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:43399960G>A	uc010ggu.2	-	c.195C>T	c.(193-195)CAC>CAT	p.H65H	RIMS4_uc002xms.2_Silent_p.H64H	NM_182970	NP_892015	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	64					exocytosis|neurotransmitter transport	cell junction|synapse				ovary(4)|central_nervous_system(1)	5		Myeloproliferative disorder(115;0.0122)												0.481481	121.225481	121.249259	39	42	KEEP	---	---	---	---	capture		Silent	SNP	43399960	43399960	13847	20	G	A	A	A	516	40	RIMS4	1	1
ZNF334	55713	broad.mit.edu	37	20	45131272	45131272	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:45131272G>T	uc002xsc.2	-	c.706C>A	c.(706-708)CCA>ACA	p.P236T	ZNF334_uc002xsa.2_Missense_Mutation_p.P259T|ZNF334_uc002xsb.2_Missense_Mutation_p.P198T|ZNF334_uc002xsd.2_Missense_Mutation_p.P198T|ZNF334_uc010ghl.2_Missense_Mutation_p.P235T	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)												0.254098	78.890794	85.578446	31	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45131272	45131272	18443	20	G	T	T	T	572	44	ZNF334	2	2
SLC2A10	81031	broad.mit.edu	37	20	45353979	45353979	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:45353979G>T	uc002xsl.2	+	c.304G>T	c.(304-306)GTC>TTC	p.V102F		NM_030777	NP_110404	O95528	GTR10_HUMAN	solute carrier family 2 member 10	102	Extracellular (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)												0.217391	35.903626	40.973288	15	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45353979	45353979	15036	20	G	T	T	T	572	44	SLC2A10	2	2
ZMYND8	23613	broad.mit.edu	37	20	45905074	45905074	+	Silent	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:45905074G>A	uc010zxy.1	-	c.1485C>T	c.(1483-1485)TTC>TTT	p.F495F	ZMYND8_uc010ghq.1_Silent_p.F145F|ZMYND8_uc010ghr.1_Silent_p.F443F|ZMYND8_uc002xst.1_Silent_p.F443F|ZMYND8_uc002xsu.1_Silent_p.F468F|ZMYND8_uc002xsv.1_Silent_p.F443F|ZMYND8_uc002xsw.1_Silent_p.F220F|ZMYND8_uc002xsx.1_Silent_p.F220F|ZMYND8_uc002xsy.1_Silent_p.F443F|ZMYND8_uc002xsz.1_Silent_p.F405F|ZMYND8_uc002xta.1_Silent_p.F468F|ZMYND8_uc002xtb.1_Silent_p.F488F|ZMYND8_uc002xss.2_Silent_p.F468F|ZMYND8_uc010zxz.1_Silent_p.F463F|ZMYND8_uc002xtc.1_Silent_p.F488F|ZMYND8_uc002xtd.1_Silent_p.F463F|ZMYND8_uc002xte.1_Silent_p.F468F|ZMYND8_uc010zya.1_Silent_p.F468F|ZMYND8_uc002xtf.1_Silent_p.F488F|ZMYND8_uc002xtg.2_Silent_p.F462F|ZMYND8_uc010ghs.1_Silent_p.F462F	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform a	468							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)											0.205882	16.518918	19.236589	7	27	KEEP	---	---	---	---	capture		Silent	SNP	45905074	45905074	18302	20	G	A	A	A	529	41	ZMYND8	2	2
RASSF2	9770	broad.mit.edu	37	20	4771142	4771142	+	Missense_Mutation	SNP	G	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:4771142G>C	uc002wld.2	-	c.492C>G	c.(490-492)ATC>ATG	p.I164M	RASSF2_uc002wlc.2_Non-coding_Transcript|RASSF2_uc002wle.2_Non-coding_Transcript|RASSF2_uc002wlf.2_Missense_Mutation_p.I164M	NM_170774	NP_739580	P50749	RASF2_HUMAN	Ras association domain family 2	164					cell cycle|signal transduction	nucleus	protein binding			ovary(3)|lung(2)|large_intestine(1)	6						Melanoma(158;1891 3343 50738)								0.2	23.783079	28.404452	11	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4771142	4771142	13547	20	G	C	C	C	577	45	RASSF2	3	3
TSHZ2	128553	broad.mit.edu	37	20	51872436	51872436	+	Silent	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:51872436C>T	uc002xwo.2	+	c.2439C>T	c.(2437-2439)TCC>TCT	p.S813S		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	813					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4			STAD - Stomach adenocarcinoma(23;0.1)											0.263158	51.535441	55.419295	20	56	KEEP	---	---	---	---	capture		Silent	SNP	51872436	51872436	17175	20	C	T	T	T	301	24	TSHZ2	2	2
APCDD1L	164284	broad.mit.edu	37	20	57042210	57042210	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57042210C>A	uc010zzp.1	-	c.726G>T	c.(724-726)AGG>AGT	p.R242S	APCDD1L_uc002xze.1_Missense_Mutation_p.R231S	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated	231						integral to membrane				ovary(1)	1	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)											0.438596	69.550174	69.739779	25	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57042210	57042210	776	20	C	A	A	A	337	26	APCDD1L	2	2
SLC17A9	63910	broad.mit.edu	37	20	61594722	61594722	+	Splice_Site_SNP	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:61594722G>A	uc002yea.3	+	c.725_splice	c.e6+1	p.W242_splice	SLC17A9_uc002ydz.3_Splice_Site_SNP_p.W236_splice|SLC17A9_uc011aap.1_Splice_Site_SNP_p.W262_splice	NM_022082	NP_071365			vesicular nucleotide transporter SLC17A9						exocytosis|transmembrane transport	integral to membrane	transporter activity			ovary(1)	1														0.323529	30.112816	31.052928	11	23	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	61594722	61594722	14920	20	G	A	A	A	572	44	SLC17A9	5	2
CXADR	1525	broad.mit.edu	37	21	18919473	18919473	+	Silent	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:18919473C>T	uc002yki.2	+	c.172C>T	c.(172-174)CTG>TTG	p.L58L	CXADR_uc002ykh.1_Silent_p.L58L|CXADR_uc010gld.1_Silent_p.L58L|CXADR_uc010gle.1_Silent_p.L58L|CXADR_uc002ykj.1_Silent_p.L31L	NM_001338	NP_001329	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	58	Extracellular (Potential).|Ig-like C2-type 1.				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			ovary(1)	1				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)										0.326531	46.067806	47.384773	16	33	KEEP	---	---	---	---	capture		Silent	SNP	18919473	18919473	4236	21	C	T	T	T	363	28	CXADR	2	2
KRTAP10-4	386672	broad.mit.edu	37	21	45994266	45994266	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:45994266C>A	uc002zfk.1	+	c.631C>A	c.(631-633)CAG>AAG	p.Q211K	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	keratin associated protein 10-4	211	36 X 5 AA repeats of C-C-X(3).|18.					keratin filament					0														0.30137	60.01785	62.592595	22	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45994266	45994266	8826	21	C	A	A	A	325	25	KRTAP10-4	2	2
DIP2A	23181	broad.mit.edu	37	21	47957423	47957423	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:47957423C>A	uc002zjo.2	+	c.1772C>A	c.(1771-1773)TCC>TAC	p.S591Y	DIP2A_uc011afy.1_Missense_Mutation_p.S527Y|DIP2A_uc011afz.1_Missense_Mutation_p.S587Y|DIP2A_uc002zjl.2_Missense_Mutation_p.S591Y|DIP2A_uc002zjm.2_Missense_Mutation_p.S591Y|DIP2A_uc010gql.2_Missense_Mutation_p.S548Y|DIP2A_uc002zjn.2_Missense_Mutation_p.S591Y|DIP2A_uc002zjp.1_Missense_Mutation_p.S336Y|DIP2A_uc002zjq.2_5'Flank	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	591					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)										0.28169	46.656134	49.707462	20	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47957423	47957423	4706	21	C	A	A	A	390	30	DIP2A	2	2
DIP2A	23181	broad.mit.edu	37	21	47974083	47974083	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:47974083G>T	uc002zjo.2	+	c.3032G>T	c.(3031-3033)GGC>GTC	p.G1011V	DIP2A_uc011afy.1_Missense_Mutation_p.G947V|DIP2A_uc011afz.1_Missense_Mutation_p.G1007V|DIP2A_uc002zjr.2_5'UTR	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	1011					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)										0.7	41.521653	42.226224	14	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47974083	47974083	4706	21	G	T	T	T	546	42	DIP2A	2	2
CABIN1	23523	broad.mit.edu	37	22	24515486	24515486	+	Missense_Mutation	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:24515486G>A	uc002zzi.1	+	c.4453G>A	c.(4453-4455)GAC>AAC	p.D1485N	CABIN1_uc002zzj.1_Missense_Mutation_p.D1406N|CABIN1_uc002zzl.1_Missense_Mutation_p.D1485N	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1485					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.355556	43.252904	44.09424	16	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24515486	24515486	2644	22	G	A	A	A	533	41	CABIN1	2	2
C22orf31	25770	broad.mit.edu	37	22	29454768	29454768	+	Missense_Mutation	SNP	C	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:29454768C>G	uc003aej.1	-	c.835G>C	c.(835-837)GTA>CTA	p.V279L		NM_015370	NP_056185	O95567	CV031_HUMAN	hypothetical protein LOC25770	279											0														0.265957	68.849306	73.492383	25	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29454768	29454768	2224	22	C	G	G	G	221	17	C22orf31	3	3
MARCO	8685	broad.mit.edu	37	2	119739028	119739028	+	Missense_Mutation	SNP	G	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:119739028G>C	uc002tln.1	+	c.810G>C	c.(808-810)ATG>ATC	p.M270I	MARCO_uc010yyf.1_Missense_Mutation_p.M192I	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	270	Collagen-like.|Extracellular (Potential).				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			ovary(3)|central_nervous_system(1)	4						GBM(8;18 374 7467 11269 32796)								0.2	13.332763	15.844453	6	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119739028	119739028	9694	2	G	C	C	C	611	47	MARCO	3	3
THSD7B	80731	broad.mit.edu	37	2	138169178	138169178	+	Splice_Site_SNP	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:138169178G>T	uc002tva.1	+	c.2603_splice	c.e13-1	p.G868_splice	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Splice_Site_SNP_p.G758_splice	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)										0.298246	47.455904	49.527989	17	40	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	138169178	138169178	16408	2	G	T	T	T	455	35	THSD7B	5	2
LRP1B	53353	broad.mit.edu	37	2	141093288	141093288	+	Silent	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141093288C>T	uc002tvj.1	-	c.12012G>A	c.(12010-12012)CTG>CTA	p.L4004L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4004	Extracellular (Potential).|LDL-receptor class B 34.				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)			0.168	40.402204	53.450755	21	104	KEEP	---	---	---	---	capture		Silent	SNP	141093288	141093288	9328	2	C	T	T	T	366	29	LRP1B	2	2
KYNU	8942	broad.mit.edu	37	2	143743548	143743548	+	Missense_Mutation	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:143743548G>A	uc002tvl.2	+	c.860G>A	c.(859-861)GGT>GAT	p.G287D	KYNU_uc002tvk.2_Missense_Mutation_p.G287D|KYNU_uc010fnm.2_Missense_Mutation_p.G287D	NM_003937	NP_003928	Q16719	KYNU_HUMAN	kynureninase (L-kynurenine hydrolase) isoform a	287					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)									0.176471	13.077819	16.393681	6	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143743548	143743548	8910	2	G	A	A	A	572	44	KYNU	2	2
STAM2	10254	broad.mit.edu	37	2	152977303	152977303	+	Missense_Mutation	SNP	T	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:152977303T>C	uc002tyc.3	-	c.1363A>G	c.(1363-1365)ACT>GCT	p.T455A		NM_005843	NP_005834	O75886	STAM2_HUMAN	signal transducing adaptor molecule 2	455					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.22)										0.44186	102.705696	102.977845	38	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152977303	152977303	15768	2	T	C	C	C	767	59	STAM2	4	4
ERMN	57471	broad.mit.edu	37	2	158178194	158178194	+	Silent	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:158178194C>T	uc002tzi.2	-	c.483G>A	c.(481-483)AAG>AAA	p.K161K	ERMN_uc010zcj.1_Silent_p.K42K|ERMN_uc002tzh.2_Silent_p.K148K|ERMN_uc010zck.1_Silent_p.K128K	NM_001009959	NP_001009959	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein isoform a	148						cytoplasm|cytoskeleton				ovary(1)	1														0.432432	157.80388	158.241076	48	63	KEEP	---	---	---	---	capture		Silent	SNP	158178194	158178194	5428	2	C	T	T	T	415	32	ERMN	2	2
DPP4	1803	broad.mit.edu	37	2	162875299	162875299	+	Missense_Mutation	SNP	A	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:162875299A>T	uc002ubz.2	-	c.1360T>A	c.(1360-1362)TGT>AGT	p.C454S	DPP4_uc010fpb.2_Missense_Mutation_p.C130S	NM_001935	NP_001926	P27487	DPP4_HUMAN	dipeptidylpeptidase IV	454	Extracellular (Potential).				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			ovary(3)	3					Sitagliptin(DB01261)									0.268817	70.453322	74.927092	25	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	162875299	162875299	4913	2	A	T	T	T	78	6	DPP4	3	3
FAP	2191	broad.mit.edu	37	2	163051221	163051221	+	Silent	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:163051221G>T	uc002ucd.2	-	c.1440C>A	c.(1438-1440)CGC>CGA	p.R480R	FAP_uc010fpc.2_Silent_p.R29R|FAP_uc010zct.1_Silent_p.R455R|FAP_uc010fpd.2_5'UTR	NM_004460	NP_004451	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha subunit	480	Extracellular (Potential).				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			ovary(3)	3														0.32	47.984361	49.422602	16	34	KEEP	---	---	---	---	capture		Silent	SNP	163051221	163051221	5909	2	G	T	T	T	587	46	FAP	2	2
KCNH7	90134	broad.mit.edu	37	2	163693092	163693092	+	Missense_Mutation	SNP	C	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:163693092C>G	uc002uch.1	-	c.262G>C	c.(262-264)GGG>CGG	p.G88R	KCNH7_uc002uci.2_Missense_Mutation_p.G88R	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	88	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)	3					Ibutilide(DB00308)	GBM(196;1492 2208 17507 24132 45496)								0.169811	15.140633	20.613982	9	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	163693092	163693092	8342	2	C	G	G	G	286	22	KCNH7	3	3
SCN3A	6328	broad.mit.edu	37	2	165953895	165953895	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:165953895G>T	uc002ucx.2	-	c.4106C>A	c.(4105-4107)ACG>AAG	p.T1369K	SCN3A_uc002ucy.2_Missense_Mutation_p.T1320K|SCN3A_uc002ucz.2_Missense_Mutation_p.T1320K|SCN3A_uc002uda.1_Missense_Mutation_p.T1189K|SCN3A_uc002udb.1_Missense_Mutation_p.T1189K	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1369						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|central_nervous_system(1)	8					Lamotrigine(DB00555)									0.25	49.924708	54.008899	18	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165953895	165953895	14400	2	G	T	T	T	520	40	SCN3A	1	1
SCN3A	6328	broad.mit.edu	37	2	165984542	165984542	+	Missense_Mutation	SNP	C	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:165984542C>G	uc002ucx.2	-	c.2992G>C	c.(2992-2994)GAC>CAC	p.D998H	SCN3A_uc002ucy.2_Missense_Mutation_p.D949H|SCN3A_uc002ucz.2_Missense_Mutation_p.D949H|SCN3A_uc002uda.1_Missense_Mutation_p.D818H|SCN3A_uc002udb.1_Missense_Mutation_p.D818H	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	998						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|central_nervous_system(1)	8					Lamotrigine(DB00555)									0.258065	46.354345	49.658592	16	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165984542	165984542	14400	2	C	G	G	G	377	29	SCN3A	3	3
SCN2A	6326	broad.mit.edu	37	2	166245307	166245307	+	Missense_Mutation	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:166245307G>A	uc002udc.2	+	c.4991G>A	c.(4990-4992)GGC>GAC	p.G1664D	SCN2A_uc002udd.2_Missense_Mutation_p.G1664D|SCN2A_uc002ude.2_Missense_Mutation_p.G1664D	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1664	Helical; Name=S5 of repeat IV; (Potential).|IV.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)									0.202247	39.022817	46.338667	18	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166245307	166245307	14398	2	G	A	A	A	546	42	SCN2A	2	2
SCN1A	6323	broad.mit.edu	37	2	166848855	166848855	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:166848855C>A	uc010zcz.1	-	c.4897G>T	c.(4897-4899)GGC>TGC	p.G1633C		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1644	Helical; Voltage-sensor; Name=S4 of repeat IV; (By similarity).|IV.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|large_intestine(1)	7					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)									0.423529	113.727463	114.150391	36	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166848855	166848855	14396	2	C	A	A	A	273	21	SCN1A	2	2
XIRP2	129446	broad.mit.edu	37	2	168103300	168103300	+	Missense_Mutation	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168103300G>A	uc002udx.2	+	c.5398G>A	c.(5398-5400)GAA>AAA	p.E1800K	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E1625K|XIRP2_uc010fpq.2_Missense_Mutation_p.E1578K|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1625					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.257426	63.941722	69.304136	26	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168103300	168103300	18011	2	G	A	A	A	585	45	XIRP2	2	2
ABCB11	8647	broad.mit.edu	37	2	169869891	169869891	+	Missense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:169869891C>T	uc002ueo.1	-	c.280G>A	c.(280-282)GAC>AAC	p.D94N		NM_003742	NP_003733	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	94	ABC transmembrane type-1 1.|Extracellular (Potential).				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			ovary(2)|large_intestine(2)|breast(1)	5					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)									0.248705	120.921516	132.000481	48	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169869891	169869891	43	2	C	T	T	T	403	31	ABCB11	1	1
ABCB11	8647	broad.mit.edu	37	2	169869897	169869897	+	Missense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:169869897C>T	uc002ueo.1	-	c.274G>A	c.(274-276)GAC>AAC	p.D92N		NM_003742	NP_003733	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	92	ABC transmembrane type-1 1.|Extracellular (Potential).				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			ovary(2)|large_intestine(2)|breast(1)	5					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)									0.23913	102.871922	114.262945	44	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169869897	169869897	43	2	C	T	T	T	377	29	ABCB11	2	2
EVX2	344191	broad.mit.edu	37	2	176948269	176948269	+	Missense_Mutation	SNP	A	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:176948269A>G	uc010zeu.1	-	c.236T>C	c.(235-237)CTG>CCG	p.L79P		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	even-skipped homeobox 2	79					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)										0.204082	22.026333	26.006283	10	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176948269	176948269	5488	2	A	G	G	G	91	7	EVX2	4	4
TTN	7273	broad.mit.edu	37	2	179596608	179596608	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179596608G>T	uc010zfg.1	-	c.13262C>A	c.(13261-13263)CCC>CAC	p.P4421H	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P1082H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1414										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				0.169811	33.827333	44.730375	18	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179596608	179596608	17290	2	G	T	T	T	559	43	TTN	2	2
SDPR	8436	broad.mit.edu	37	2	192700754	192700754	+	Silent	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:192700754C>T	uc002utb.2	-	c.1173G>A	c.(1171-1173)CAG>CAA	p.Q391Q		NM_004657	NP_004648	O95810	SDPR_HUMAN	serum deprivation response protein	391						caveola|cytosol	phosphatidylserine binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)									0.219512	65.188038	74.193893	27	96	KEEP	---	---	---	---	capture		Silent	SNP	192700754	192700754	14456	2	C	T	T	T	415	32	SDPR	2	2
DNAH7	56171	broad.mit.edu	37	2	196749414	196749414	+	Silent	SNP	T	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:196749414T>A	uc002utj.3	-	c.5658A>T	c.(5656-5658)CGA>CGT	p.R1886R		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1886					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(2)	2														0.266667	39.573391	42.524261	16	44	KEEP	---	---	---	---	capture		Silent	SNP	196749414	196749414	4789	2	T	A	A	A	795	62	DNAH7	3	3
AOX1	316	broad.mit.edu	37	2	201523957	201523957	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:201523957C>A	uc002uvx.2	+	c.3241C>A	c.(3241-3243)CCT>ACT	p.P1081T	AOX1_uc010zhf.1_Missense_Mutation_p.P637T|AOX1_uc010fsu.2_Missense_Mutation_p.P447T	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	1081					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)									0.385714	78.326133	79.120941	27	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	201523957	201523957	739	2	C	A	A	A	286	22	AOX1	2	2
TNS1	7145	broad.mit.edu	37	2	218713187	218713187	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:218713187G>T	uc002vgt.2	-	c.1678C>A	c.(1678-1680)CCC>ACC	p.P560T	TNS1_uc002vgr.2_Missense_Mutation_p.P560T|TNS1_uc002vgs.2_Missense_Mutation_p.P560T|TNS1_uc010zjv.1_Missense_Mutation_p.P560T|TNS1_uc010fvj.1_Missense_Mutation_p.P628T|TNS1_uc010fvk.1_Missense_Mutation_p.P685T|TNS1_uc010fvi.1_Missense_Mutation_p.P247T	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	560						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)										0.183673	17.249491	21.849378	9	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	218713187	218713187	16884	2	G	T	T	T	559	43	TNS1	2	2
VIL1	7429	broad.mit.edu	37	2	219292707	219292707	+	Missense_Mutation	SNP	G	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219292707G>C	uc002via.2	+	c.367G>C	c.(367-369)GCT>CCT	p.A123P	VIL1_uc010zke.1_Intron|VIL1_uc002vib.2_Missense_Mutation_p.A123P|VIL1_uc002vic.1_Missense_Mutation_p.A123P	NM_007127	NP_009058	P09327	VILI_HUMAN	villin 1	123	Core.|Necessary for homodimerization.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.197452	78.48903	91.83364	31	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	219292707	219292707	17731	2	G	C	C	C	546	42	VIL1	3	3
CRYBA2	1412	broad.mit.edu	37	2	219856956	219856956	+	Silent	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219856956G>A	uc002vjj.1	-	c.171C>T	c.(169-171)GCC>GCT	p.A57A	CRYBA2_uc002vjk.1_Silent_p.A57A	NM_057094	NP_476435	P53672	CRBA2_HUMAN	crystallin, beta A2	57	Beta/gamma crystallin 'Greek key' 2.						structural constituent of eye lens				0		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)										0.568182	82.319007	82.489398	25	19	KEEP	---	---	---	---	capture		Silent	SNP	219856956	219856956	4047	2	G	A	A	A	444	35	CRYBA2	2	2
DNER	92737	broad.mit.edu	37	2	230456401	230456401	+	Silent	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:230456401C>T	uc002vpv.2	-	c.480G>A	c.(478-480)CAG>CAA	p.Q160Q		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	delta-notch-like EGF repeat-containing	160	Extracellular (Potential).				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			ovary(1)	1		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)										0.361702	51.76383	52.554276	17	30	KEEP	---	---	---	---	capture		Silent	SNP	230456401	230456401	4850	2	C	T	T	T	311	24	DNER	2	2
SP140L	93349	broad.mit.edu	37	2	231235658	231235658	+	Missense_Mutation	SNP	A	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:231235658A>T	uc010fxm.1	+	c.559A>T	c.(559-561)AGT>TGT	p.S187C	SP140L_uc010fxn.1_Missense_Mutation_p.S100C|SP140L_uc010fxo.1_De_novo_Start_OutOfFrame	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	187						nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1														0.44	34.233712	34.309568	11	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	231235658	231235658	15463	2	A	T	T	T	39	3	SP140L	3	3
HTR2B	3357	broad.mit.edu	37	2	231973592	231973592	+	Missense_Mutation	SNP	A	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:231973592A>T	uc002vro.2	-	c.1085T>A	c.(1084-1086)CTG>CAG	p.L362Q	PSMD1_uc002vrm.1_Intron|PSMD1_uc010fxu.1_Intron|PSMD1_uc002vrn.1_Intron|HTR2B_uc010fxv.2_Missense_Mutation_p.L295Q	NM_000867	NP_000858	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B	362	Helical; Name=7; (By similarity).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|serotonin receptor signaling pathway|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity				0		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	Ovarian(155;1331 1891 12853 14038 34991)								0.259259	58.251201	62.493915	21	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	231973592	231973592	7742	2	A	T	T	T	91	7	HTR2B	3	3
USP40	55230	broad.mit.edu	37	2	234436080	234436080	+	Silent	SNP	T	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:234436080T>C	uc010zmr.1	-	c.1731A>G	c.(1729-1731)TTA>TTG	p.L577L	USP40_uc010zmt.1_Silent_p.L221L	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	ubiquitin thioesterase 40	565					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)	1		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)										0.289474	29.105565	30.619288	11	27	KEEP	---	---	---	---	capture		Silent	SNP	234436080	234436080	17636	2	T	C	C	C	686	53	USP40	4	4
PASK	23178	broad.mit.edu	37	2	242065726	242065726	+	Silent	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:242065726G>A	uc010fzl.1	-	c.2604C>T	c.(2602-2604)AAC>AAT	p.N868N	PASK_uc010zol.1_Silent_p.N682N|PASK_uc002wao.1_Silent_p.N868N|PASK_uc010zom.1_Silent_p.N833N|PASK_uc010zon.1_Silent_p.N649N|PASK_uc002wap.2_Silent_p.N411N|PASK_uc002waq.2_Silent_p.N868N	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	868					protein phosphorylation|regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)						754				0.254386	73.533994	79.766432	29	85	KEEP	---	---	---	---	capture		Silent	SNP	242065726	242065726	11889	2	G	A	A	A	516	40	PASK	1	1
PLB1	151056	broad.mit.edu	37	2	28855876	28855876	+	Silent	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:28855876C>T	uc002rmb.1	+	c.4068C>T	c.(4066-4068)GCC>GCT	p.A1356A	PLB1_uc010ezj.1_Silent_p.A1345A|PLB1_uc002rme.1_Silent_p.A321A|PLB1_uc002rmf.1_Non-coding_Transcript	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	1356	4 X 308-326 AA approximate repeats.|Extracellular (Potential).|4.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|breast(1)	7	Acute lymphoblastic leukemia(172;0.155)													0.266667	42.381742	45.326901	16	44	KEEP	---	---	---	---	capture		Silent	SNP	28855876	28855876	12450	2	C	T	T	T	288	23	PLB1	1	1
DYNC2LI1	51626	broad.mit.edu	37	2	44021745	44021745	+	Missense_Mutation	SNP	G	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:44021745G>C	uc002rtl.2	+	c.470G>C	c.(469-471)AGA>ACA	p.R157T	DYNC2LI1_uc002rth.2_Missense_Mutation_p.R157T|DYNC2LI1_uc002rti.2_3'UTR|DYNC2LI1_uc002rtj.2_Missense_Mutation_p.R157T|DYNC2LI1_uc002rtk.2_Missense_Mutation_p.R157T|DYNC2LI1_uc010ynz.1_Missense_Mutation_p.R31T	NM_016008	NP_057092	Q8TCX1	DC2L1_HUMAN	dynein 2 light intermediate chain isoform 1	157						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)												0.28	58.041914	61.307145	21	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44021745	44021745	5033	2	G	C	C	C	429	33	DYNC2LI1	3	3
NRXN1	9378	broad.mit.edu	37	2	50280681	50280681	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:50280681C>A	uc010fbq.2	-	c.3976G>T	c.(3976-3978)GGG>TGG	p.G1326W	NRXN1_uc010fbp.2_Missense_Mutation_p.G221W|NRXN1_uc002rxb.3_Missense_Mutation_p.G958W|NRXN1_uc002rxe.3_Missense_Mutation_p.G1256W	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	221	Extracellular (Potential).|Laminin G-like.				neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)											0.2375	52.439603	57.438201	19	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50280681	50280681	11070	2	C	A	A	A	299	23	NRXN1	1	1
NRXN1	9378	broad.mit.edu	37	2	50463964	50463964	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:50463964C>A	uc010fbq.2	-	c.3629G>T	c.(3628-3630)AGT>ATT	p.S1210I	NRXN1_uc010fbp.2_Missense_Mutation_p.S135I|NRXN1_uc002rxb.3_Missense_Mutation_p.S842I|NRXN1_uc002rxe.3_Missense_Mutation_p.S1170I|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	135	Extracellular (Potential).|Laminin G-like.				neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)											0.302326	38.258333	39.758485	13	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50463964	50463964	11070	2	C	A	A	A	260	20	NRXN1	2	2
CCT4	10575	broad.mit.edu	37	2	62112193	62112193	+	Missense_Mutation	SNP	T	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:62112193T>C	uc002sbo.2	-	c.142A>G	c.(142-144)ATT>GTT	p.I48V	CCT4_uc010ypp.1_5'UTR|CCT4_uc010ypq.1_5'UTR|CCT4_uc010ypr.1_5'UTR|CCT4_uc010yps.1_Missense_Mutation_p.I48V	NM_006430	NP_006421	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	48					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding			ovary(2)	2	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)											0.253968	41.202901	44.648972	16	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62112193	62112193	3082	2	T	C	C	C	637	49	CCT4	4	4
ADD2	119	broad.mit.edu	37	2	70901905	70901905	+	Missense_Mutation	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:70901905G>A	uc002sgz.2	-	c.1646C>T	c.(1645-1647)TCA>TTA	p.S549L	ADD2_uc010fds.1_Non-coding_Transcript|ADD2_uc002sgy.2_Missense_Mutation_p.S549L|ADD2_uc002sha.2_Missense_Mutation_p.S243L|ADD2_uc002sgx.2_Missense_Mutation_p.S549L|ADD2_uc010fdt.1_Missense_Mutation_p.S549L	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	549					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			ovary(2)|pancreas(1)	3														0.43956	123.287397	123.576991	40	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70901905	70901905	306	2	G	A	A	A	585	45	ADD2	2	2
ANKRD53	79998	broad.mit.edu	37	2	71209077	71209077	+	Missense_Mutation	SNP	A	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:71209077A>G	uc002shl.3	+	c.629A>G	c.(628-630)AAC>AGC	p.N210S	ANKRD53_uc002shk.3_Missense_Mutation_p.N210S|ANKRD53_uc002shm.3_Intron	NM_001115116	NP_001108588	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53 isoform a	210	ANK 3.										0														0.287671	62.934793	65.894866	21	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71209077	71209077	687	2	A	G	G	G	26	2	ANKRD53	4	4
DYSF	8291	broad.mit.edu	37	2	71827870	71827870	+	Silent	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:71827870G>T	uc010fen.2	+	c.3795G>T	c.(3793-3795)CCG>CCT	p.P1265P	DYSF_uc010feg.2_Silent_p.P1278P|DYSF_uc010feh.2_Silent_p.P1233P|DYSF_uc002sig.3_Silent_p.P1233P|DYSF_uc010yqx.1_Non-coding_Transcript|DYSF_uc010fee.2_Silent_p.P1247P|DYSF_uc010fef.2_Silent_p.P1264P|DYSF_uc002sie.2_Silent_p.P1247P|DYSF_uc010fei.2_Silent_p.P1264P|DYSF_uc010fek.2_Silent_p.P1265P|DYSF_uc010fej.2_Silent_p.P1234P|DYSF_uc010fel.2_Silent_p.P1234P|DYSF_uc010feo.2_Silent_p.P1279P|DYSF_uc010fem.2_Silent_p.P1248P|DYSF_uc002sif.2_Silent_p.P1248P|DYSF_uc010yqy.1_Silent_p.P128P|DYSF_uc010yqz.1_5'Flank	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	dysferlin isoform 1	1247	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)	6														0.441379	200.254864	200.691045	64	81	KEEP	---	---	---	---	capture		Silent	SNP	71827870	71827870	5045	2	G	T	T	T	470	37	DYSF	1	1
REG3G	130120	broad.mit.edu	37	2	79253230	79253230	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:79253230C>A	uc002snw.2	+	c.11C>A	c.(10-12)CCC>CAC	p.P4H	REG3G_uc002snx.2_Missense_Mutation_p.P4H|REG3G_uc010ffu.2_Missense_Mutation_p.P4H	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma precursor	4					acute-phase response	extracellular region	sugar binding				0														0.545455	71.488747	71.566596	24	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79253230	79253230	13682	2	C	A	A	A	286	22	REG3G	2	2
REG3G	130120	broad.mit.edu	37	2	79255046	79255046	+	Silent	SNP	G	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:79255046G>C	uc002snw.2	+	c.447G>C	c.(445-447)CTG>CTC	p.L149L	REG3G_uc002snx.2_Silent_p.L149L|REG3G_uc010ffu.2_Silent_p.L103L	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma precursor	149	C-type lectin.				acute-phase response	extracellular region	sugar binding				0														0.469136	132.524111	132.582263	38	43	KEEP	---	---	---	---	capture		Silent	SNP	79255046	79255046	13682	2	G	C	C	C	613	48	REG3G	3	3
SH2D6	284948	broad.mit.edu	37	2	85662892	85662892	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:85662892G>T	uc002spq.2	+	c.356G>T	c.(355-357)CGG>CTG	p.R119L	SH2D6_uc002spo.2_Non-coding_Transcript|SH2D6_uc002spp.2_Non-coding_Transcript	NM_198482	NP_940884	Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	119	SH2.									central_nervous_system(1)	1														0.5	20.921372	20.921372	7	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85662892	85662892	14729	2	G	T	T	T	507	39	SH2D6	1	1
TMEM131	23505	broad.mit.edu	37	2	98408868	98408868	+	Silent	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:98408868C>A	uc002syh.3	-	c.4125G>T	c.(4123-4125)TCG>TCT	p.S1375S		NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	1375						integral to membrane				ovary(4)|central_nervous_system(2)	6														0.206897	13.535034	15.843198	6	23	KEEP	---	---	---	---	capture		Silent	SNP	98408868	98408868	16575	2	C	A	A	A	340	27	TMEM131	1	1
VWA3B	200403	broad.mit.edu	37	2	98907069	98907069	+	Missense_Mutation	SNP	T	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:98907069T>A	uc002syo.2	+	c.3141T>A	c.(3139-3141)AAT>AAA	p.N1047K	VWA3B_uc002sym.2_Missense_Mutation_p.N1047K|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.N704K|VWA3B_uc002syp.1_Missense_Mutation_p.N439K|VWA3B_uc002syq.1_Missense_Mutation_p.N323K|VWA3B_uc002syr.1_Missense_Mutation_p.N364K|VWA3B_uc002sys.2_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1047										ovary(3)|large_intestine(2)	5														0.470588	27.213705	27.224888	8	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98907069	98907069	17810	2	T	A	A	A	660	51	VWA3B	3	3
NPHP3	27031	broad.mit.edu	37	3	132423161	132423161	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:132423161C>A	uc003epe.1	-	c.1405G>T	c.(1405-1407)GAT>TAT	p.D469Y	NPHP3_uc003epf.1_Missense_Mutation_p.D224Y	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	469					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			ovary(1)	1														0.629442	375.595913	378.489224	124	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132423161	132423161	10984	3	C	A	A	A	390	30	NPHP3	2	2
EPHB1	2047	broad.mit.edu	37	3	134670814	134670814	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:134670814G>T	uc003eqt.2	+	c.725G>T	c.(724-726)GGG>GTG	p.G242V	EPHB1_uc010htz.1_Non-coding_Transcript|EPHB1_uc011bly.1_Intron	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	242	Extracellular (Potential).|Cys-rich.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(7)|ovary(4)|stomach(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	18										376				0.669811	220.88453	223.59233	71	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134670814	134670814	5367	3	G	T	T	T	559	43	EPHB1	2	2
PLCL2	23228	broad.mit.edu	37	3	17052138	17052138	+	Missense_Mutation	SNP	C	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:17052138C>G	uc011awc.1	+	c.1276C>G	c.(1276-1278)CAT>GAT	p.H426D	PLCL2_uc010het.1_Intron|PLCL2_uc011awd.1_Missense_Mutation_p.H308D	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2 isoform 1	434	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|lung(1)	2														0.229167	92.716972	102.392492	33	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17052138	17052138	12466	3	C	G	G	G	377	29	PLCL2	3	3
PARL	55486	broad.mit.edu	37	3	183547410	183547410	+	Silent	SNP	G	A	A	rs17849792		TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183547410G>A	uc003fmd.2	-	c.1116C>T	c.(1114-1116)CCC>CCT	p.P372P	PARL_uc003fme.2_Silent_p.P322P	NM_018622	NP_061092	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like isoform 1	372	Mitochondrial intermembrane (Potential).					integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity				0	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)											0.34	198.285001	202.78872	68	132	KEEP	---	---	---	---	capture		Silent	SNP	183547410	183547410	11868	3	G	A	A	A	600	47	PARL	2	2
MASP1	5648	broad.mit.edu	37	3	186974520	186974520	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:186974520G>T	uc003fri.2	-	c.676C>A	c.(676-678)CTG>ATG	p.L226M	MASP1_uc003frh.1_Missense_Mutation_p.L226M|MASP1_uc003frj.2_Missense_Mutation_p.L195M|MASP1_uc003frk.1_Missense_Mutation_p.L226M|MASP1_uc011bse.1_Missense_Mutation_p.L200M	NM_139125	NP_624302	P48740	MASP1_HUMAN	mannan-binding lectin serine protease 1 isoform	226	Interaction with FCN2.|CUB 2.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			ovary(2)|breast(1)|liver(1)	4	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)										0.641509	111.362135	112.296676	34	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186974520	186974520	9706	3	G	T	T	T	451	35	MASP1	2	2
SGOL1	151648	broad.mit.edu	37	3	20216036	20216036	+	Silent	SNP	G	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:20216036G>C	uc003cbs.2	-	c.987C>G	c.(985-987)GTC>GTG	p.V329V	SGOL1_uc003cbr.2_Intron|SGOL1_uc010hfa.2_Intron|SGOL1_uc003cbt.2_Intron|SGOL1_uc003cbu.2_Silent_p.V329V|SGOL1_uc003cbv.2_Intron|SGOL1_uc003cbw.2_Intron|SGOL1_uc003cbx.2_Intron|SGOL1_uc003cby.2_Intron|SGOL1_uc003cbz.2_Silent_p.V329V|SGOL1_uc003cca.2_Silent_p.V329V|SGOL1_uc003ccb.2_Intron|SGOL1_uc003ccc.2_Intron	NM_001012410	NP_001012410	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 isoform A2	329					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding				0														0.206897	29.465752	34.087393	12	46	KEEP	---	---	---	---	capture		Silent	SNP	20216036	20216036	14707	3	G	C	C	C	574	45	SGOL1	3	3
TMPPE	643853	broad.mit.edu	37	3	33135131	33135131	+	Missense_Mutation	SNP	T	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:33135131T>A	uc003cfk.2	-	c.557A>T	c.(556-558)CAG>CTG	p.Q186L	GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Missense_Mutation_p.Q49L	NM_001039770	NP_001034859	Q6ZT21	TMPPE_HUMAN	transmembrane protein with	186						integral to membrane	metal ion binding				0														0.568182	79.386696	79.567647	25	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33135131	33135131	16778	3	T	A	A	A	715	55	TMPPE	3	3
SCN5A	6331	broad.mit.edu	37	3	38592217	38592217	+	Silent	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38592217G>T	uc003cio.2	-	c.5646C>A	c.(5644-5646)GCC>GCA	p.A1882A	SCN5A_uc003cin.2_Silent_p.A1881A|SCN5A_uc003cil.3_Silent_p.A1882A|SCN5A_uc010hhi.2_Silent_p.A1864A|SCN5A_uc010hhk.2_Silent_p.A1849A|SCN5A_uc011ayr.1_Silent_p.A1828A	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1882					blood circulation|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|central_nervous_system(1)	7	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)									0.47191	126.528858	126.590726	42	47	KEEP	---	---	---	---	capture		Silent	SNP	38592217	38592217	14404	3	G	T	T	T	600	47	SCN5A	2	2
CHL1	10752	broad.mit.edu	37	3	419533	419533	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:419533C>A	uc003bot.2	+	c.1784C>A	c.(1783-1785)TCT>TAT	p.S595Y	CHL1_uc003bou.2_Missense_Mutation_p.S579Y|CHL1_uc003bow.1_Missense_Mutation_p.S579Y|CHL1_uc011asi.1_Missense_Mutation_p.S595Y	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	579	Ig-like C2-type 6.|Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				central_nervous_system(4)|large_intestine(2)|ovary(1)	7		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)					p.S595Y(JHUEM7-Tumor)	659				0.450549	121.964559	122.15808	41	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	419533	419533	3483	3	C	A	A	A	416	32	CHL1	2	2
KIF15	56992	broad.mit.edu	37	3	44835823	44835823	+	Missense_Mutation	SNP	G	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:44835823G>C	uc003cnx.3	+	c.754G>C	c.(754-756)GAG>CAG	p.E252Q	KIF15_uc010hiq.2_Missense_Mutation_p.E155Q	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	252	Kinesin-motor.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)										0.22807	35.85237	39.71512	13	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44835823	44835823	8588	3	G	C	C	C	585	45	KIF15	3	3
PFKFB4	5210	broad.mit.edu	37	3	48563078	48563078	+	Missense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48563078C>T	uc003ctv.2	-	c.1012G>A	c.(1012-1014)GAG>AAG	p.E338K	PFKFB4_uc003ctw.2_Missense_Mutation_p.E147K|PFKFB4_uc010hkc.2_Intron|PFKFB4_uc003ctx.2_Missense_Mutation_p.E295K|PFKFB4_uc010hkb.2_Missense_Mutation_p.E331K|PFKFB4_uc011bbm.1_Missense_Mutation_p.E327K|PFKFB4_uc011bbn.1_Non-coding_Transcript	NM_004567	NP_004558	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,	338	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)										0.315789	16.748006	17.318899	6	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48563078	48563078	12185	3	C	T	T	T	403	31	PFKFB4	1	1
RAD54L2	23132	broad.mit.edu	37	3	51679135	51679135	+	Missense_Mutation	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:51679135G>A	uc011bdt.1	+	c.2546G>A	c.(2545-2547)CGG>CAG	p.R849Q	RAD54L2_uc003dbh.2_Missense_Mutation_p.R438Q|RAD54L2_uc011bdu.1_Missense_Mutation_p.R543Q|RAD54L2_uc003dbj.2_Missense_Mutation_p.R175Q	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	849	Helicase C-terminal.					nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)										0.428571	38.195355	38.319991	12	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51679135	51679135	13454	3	G	A	A	A	507	39	RAD54L2	1	1
DNAH1	25981	broad.mit.edu	37	3	52416447	52416447	+	Silent	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52416447C>T	uc011bef.1	+	c.7917C>T	c.(7915-7917)ATC>ATT	p.I2639I	DNAH1_uc003ddv.2_5'Flank	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2639	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)										0.264706	66.072455	71.186256	27	75	KEEP	---	---	---	---	capture		Silent	SNP	52416447	52416447	4779	3	C	T	T	T	369	29	DNAH1	2	2
DNAH1	25981	broad.mit.edu	37	3	52416461	52416461	+	Missense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52416461C>T	uc011bef.1	+	c.7931C>T	c.(7930-7932)TCA>TTA	p.S2644L	DNAH1_uc003ddv.2_5'Flank	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2644	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)										0.298077	80.291282	84.078381	31	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52416461	52416461	4779	3	C	T	T	T	377	29	DNAH1	2	2
FLNB	2317	broad.mit.edu	37	3	58135872	58135872	+	Silent	SNP	C	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:58135872C>G	uc010hne.2	+	c.6378C>G	c.(6376-6378)GTC>GTG	p.V2126V	FLNB_uc003djj.2_Silent_p.V2095V|FLNB_uc003djk.2_Silent_p.V2084V|FLNB_uc010hnf.2_Silent_p.V2071V|FLNB_uc003djl.2_Silent_p.V1915V|FLNB_uc003djm.2_Silent_p.V1902V|FLNB_uc010hng.1_Non-coding_Transcript	NM_001164317	NP_001157789	O75369	FLNB_HUMAN	filamin B isoform 1	2095	Filamin 20.|Interaction with FLNA 1.|Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(6)|ovary(3)	9				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)						676				0.290598	93.816664	98.405998	34	83	KEEP	---	---	---	---	capture		Silent	SNP	58135872	58135872	6176	3	C	G	G	G	366	29	FLNB	3	3
CNTN3	5067	broad.mit.edu	37	3	74413726	74413726	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:74413726C>A	uc003dpm.1	-	c.1105G>T	c.(1105-1107)GGT>TGT	p.G369C		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	369	Ig-like C2-type 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)	4		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)										0.297872	39.356294	41.058829	14	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74413726	74413726	3780	3	C	A	A	A	273	21	CNTN3	2	2
MINA	84864	broad.mit.edu	37	3	97686195	97686195	+	Silent	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:97686195G>A	uc003drz.1	-	c.243C>T	c.(241-243)TTC>TTT	p.F81F	MINA_uc003dsa.1_Silent_p.F81F|MINA_uc003dsb.1_Silent_p.F81F|MINA_uc003dsc.1_Silent_p.F81F|MINA_uc010hpa.1_Non-coding_Transcript|MINA_uc010hpb.1_Intron	NM_001042533	NP_001035998	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen isoform a	81					ribosome biogenesis	cytoplasm|nucleolus				ovary(1)	1														0.725275	448.728149	457.031778	132	50	KEEP	---	---	---	---	capture		Silent	SNP	97686195	97686195	9976	3	G	A	A	A	581	45	MINA	2	2
IL17RE	132014	broad.mit.edu	37	3	9956381	9956381	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:9956381G>T	uc003btu.2	+	c.1367G>T	c.(1366-1368)GGG>GTG	p.G456V	CIDEC_uc003bto.2_Intron|IL17RC_uc010hcr.2_5'Flank|IL17RC_uc011ato.1_5'Flank|IL17RC_uc010hcs.2_5'Flank|IL17RC_uc003btz.2_5'Flank|IL17RC_uc011atp.1_5'Flank|IL17RC_uc003bud.2_5'Flank|IL17RC_uc003bua.2_5'Flank|IL17RC_uc003bub.2_5'Flank|IL17RC_uc010hct.2_5'Flank|IL17RC_uc010hcu.2_5'Flank|IL17RC_uc010hcv.2_5'Flank|IL17RC_uc011atq.1_5'Flank|IL17RC_uc003buc.2_5'Flank|IL17RE_uc003btw.2_Missense_Mutation_p.G456V|IL17RE_uc003btx.2_Missense_Mutation_p.G340V|IL17RE_uc010hcq.2_Silent_p.G480G|IL17RE_uc003bty.2_Non-coding_Transcript	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E isoform 1	456	Helical; (Potential).					cytoplasm|extracellular region|integral to membrane	receptor activity			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)										0.514019	172.521011	172.539123	55	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9956381	9956381	7944	3	G	T	T	T	559	43	IL17RE	2	2
ADH1A	124	broad.mit.edu	37	4	100205962	100205962	+	Splice_Site_SNP	SNP	T	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:100205962T>A	uc003hur.1	-	c.260_splice	c.e4-1	p.G87_splice	ADH1A_uc011ceg.1_Splice_Site_SNP_p.G87_splice|ADH1A_uc010ilf.1_5'Flank|ADH1A_uc010ilg.1_Intron	NM_000667	NP_000658			class I alcohol dehydrogenase, alpha subunit						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|transcription regulator activity|zinc ion binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)									0.536585	74.545635	74.592976	22	19	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	100205962	100205962	308	4	T	A	A	A	715	55	ADH1A	5	3
ADH1C	126	broad.mit.edu	37	4	100264040	100264040	+	Missense_Mutation	SNP	T	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:100264040T>C	uc003huu.2	-	c.740A>G	c.(739-741)TAC>TGC	p.Y247C		NM_000669	NP_000660	P00326	ADH1G_HUMAN	class I alcohol dehydrogenase, gamma subunit	247					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)									0.207589	236.92772	272.468912	93	355	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100264040	100264040	310	4	T	C	C	C	741	57	ADH1C	4	4
NFKB1	4790	broad.mit.edu	37	4	103504055	103504055	+	Nonsense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:103504055G>T	uc011cep.1	+	c.868G>T	c.(868-870)GAA>TAA	p.E290*	NFKB1_uc011ceq.1_Nonsense_Mutation_p.E289*|NFKB1_uc011cer.1_Nonsense_Mutation_p.E109*	NM_003998	NP_003989	P19838	NFKB1_HUMAN	nuclear factor kappa-B, subunit 1 isoform 1	289	RHD.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cellular protein metabolic process|negative regulation of cholesterol transport|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of vitamin D biosynthetic process|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of lipid storage|positive regulation of macrophage derived foam cell differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	promoter binding|protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription activator activity			ovary(2)|breast(2)	4		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)					318				0.264151	35.840176	38.497233	14	39	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	103504055	103504055	10775	4	G	T	T	T	429	33	NFKB1	5	2
CLNK	116449	broad.mit.edu	37	4	10599628	10599628	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:10599628G>T	uc003gmo.3	-	c.57C>A	c.(55-57)TTC>TTA	p.F19L	CLNK_uc003gmp.2_5'UTR	NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN	mast cell immunoreceptor signal transducer	19					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			ovary(1)	1						GBM(87;402 1286 6949 13902 35851)								0.5	9.324703	9.324703	3	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10599628	10599628	3685	4	G	T	T	T	529	41	CLNK	2	2
NDST4	64579	broad.mit.edu	37	4	115997820	115997821	+	Missense_Mutation	DNP	TG	CT	CT			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:115997820_115997821TG>CT	uc003ibu.2	-	c.372_373CA>AG	c.(370-375)GGCAAA>GGAGAA	p.K125E	NDST4_uc010imw.2_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	125	Lumenal (Potential).|Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)										0.149254	17.406468	25.317602	10	57	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	115997820	115997821	10657	4	TG	CT	CT	CT	819	63	NDST4	4	4
KIAA1109	84162	broad.mit.edu	37	4	123255688	123255688	+	Missense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:123255688C>T	uc003ieh.2	+	c.11836C>T	c.(11836-11838)CCT>TCT	p.P3946S	KIAA1109_uc003iem.2_Intron	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	3946					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(7)|central_nervous_system(1)|pancreas(1)	9														0.236842	41.90747	46.721848	18	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123255688	123255688	8516	4	C	T	T	T	234	18	KIAA1109	2	2
FAT4	79633	broad.mit.edu	37	4	126328197	126328197	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:126328197G>T	uc003ifj.3	+	c.5470G>T	c.(5470-5472)GAT>TAT	p.D1824Y	FAT4_uc011cgp.1_Missense_Mutation_p.D122Y	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1824	Cadherin 17.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(8)|pancreas(2)	10														0.243243	82.762614	91.634808	36	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126328197	126328197	5928	4	G	T	T	T	533	41	FAT4	2	2
PCDH10	57575	broad.mit.edu	37	4	134072045	134072045	+	Silent	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:134072045C>T	uc003iha.2	+	c.750C>T	c.(748-750)TTC>TTT	p.F250F	PCDH10_uc003igz.2_Silent_p.F250F	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	250	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1				LUSC - Lung squamous cell carcinoma(193;0.227)										0.202899	32.622324	38.269843	14	55	KEEP	---	---	---	---	capture		Silent	SNP	134072045	134072045	11927	4	C	T	T	T	402	31	PCDH10	1	1
SLC10A7	84068	broad.mit.edu	37	4	147179844	147179844	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:147179844C>A	uc010ioz.2	-	c.993G>T	c.(991-993)AAG>AAT	p.K331N	SLC10A7_uc003ikr.2_Missense_Mutation_p.K331N|SLC10A7_uc010ipa.2_Missense_Mutation_p.K318N|SLC10A7_uc003iks.2_Non-coding_Transcript	NM_001029998	NP_001025169	Q0GE19	NTCP7_HUMAN	solute carrier family 10 (sodium/bile acid	331						integral to membrane	bile acid:sodium symporter activity				0	all_hematologic(180;0.151)													0.358974	77.734467	79.118017	28	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147179844	147179844	14874	4	C	A	A	A	311	24	SLC10A7	2	2
DCHS2	54798	broad.mit.edu	37	4	155157307	155157307	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:155157307C>A	uc003inw.2	-	c.7132G>T	c.(7132-7134)GAT>TAT	p.D2378Y		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2378	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)										0.929172	2430.599303	2575.451702	774	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155157307	155157307	4459	4	C	A	A	A	390	30	DCHS2	2	2
CD38	952	broad.mit.edu	37	4	15780139	15780139	+	Silent	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:15780139C>A	uc011bxc.1	+	c.102C>A	c.(100-102)ATC>ATA	p.I34I	CD38_uc003goj.1_Silent_p.I34I|CD38_uc003gol.1_Silent_p.I34I	NM_001775	NP_001766	P28907	CD38_HUMAN	CD38 antigen	34	Helical; Signal-anchor for type II membrane protein; (Potential).				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity|transcription activator activity|transcription repressor activity			ovary(2)	2														0.261194	76.142697	83.082884	35	99	KEEP	---	---	---	---	capture		Silent	SNP	15780139	15780139	3137	4	C	A	A	A	382	30	CD38	2	2
CD38	952	broad.mit.edu	37	4	15835864	15835864	+	Missense_Mutation	SNP	A	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:15835864A>G	uc011bxc.1	+	c.524A>G	c.(523-525)GAC>GGC	p.D175G	CD38_uc003gol.1_Missense_Mutation_p.D175G	NM_001775	NP_001766	P28907	CD38_HUMAN	CD38 antigen	175	Extracellular (Potential).				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity|transcription activator activity|transcription repressor activity			ovary(2)	2														0.3	64.648842	67.149818	21	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15835864	15835864	3137	4	A	G	G	G	130	10	CD38	4	4
PROM1	8842	broad.mit.edu	37	4	16014962	16014962	+	Splice_Site_SNP	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:16014962C>A	uc003goo.2	-	c.1078_splice	c.e10-1	p.G360_splice	PROM1_uc003gor.2_Splice_Site_SNP_p.G360_splice|PROM1_uc003gos.2_Splice_Site_SNP_p.G351_splice|PROM1_uc003got.2_Splice_Site_SNP_p.G360_splice|PROM1_uc003gou.2_Splice_Site_SNP_p.G351_splice|PROM1_uc003gop.2_Splice_Site_SNP_p.G351_splice|PROM1_uc003goq.3_Splice_Site_SNP_p.G351_splice|PROM1_uc010iec.1_Splice_Site_SNP_p.G238_splice	NM_006017	NP_006008			prominin 1 isoform 1						camera-type eye photoreceptor cell differentiation|response to stimulus|retina layer formation|visual perception	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment|plasma membrane				ovary(3)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	7														0.492308	99.195257	99.19866	32	33	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	16014962	16014962	12998	4	C	A	A	A	312	24	PROM1	5	2
FSTL5	56884	broad.mit.edu	37	4	162841740	162841740	+	Silent	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:162841740G>A	uc003iqh.2	-	c.225C>T	c.(223-225)CAC>CAT	p.H75H	FSTL5_uc003iqi.2_Silent_p.H74H|FSTL5_uc010iqv.2_Silent_p.H74H	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	75						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|large_intestine(1)|central_nervous_system(1)	6	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)										0.236842	23.154331	25.56056	9	29	KEEP	---	---	---	---	capture		Silent	SNP	162841740	162841740	6331	4	G	A	A	A	464	36	FSTL5	2	2
TLL1	7092	broad.mit.edu	37	4	166976321	166976321	+	Missense_Mutation	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:166976321G>A	uc011cjn.1	+	c.1687G>A	c.(1687-1689)GAC>AAC	p.D563N	TLL1_uc003irh.1_Missense_Mutation_p.D540N|TLL1_uc011cjo.1_Missense_Mutation_p.D364N	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	540	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)|breast(1)|central_nervous_system(1)	4	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)										0.239583	54.982477	60.934231	23	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166976321	166976321	16475	4	G	A	A	A	585	45	TLL1	2	2
NEK1	4750	broad.mit.edu	37	4	170347354	170347354	+	Missense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:170347354C>T	uc003isd.1	-	c.2917G>A	c.(2917-2919)GAA>AAA	p.E973K	NEK1_uc003isb.1_Missense_Mutation_p.E945K|NEK1_uc003isc.1_Missense_Mutation_p.E901K|NEK1_uc003ise.1_Missense_Mutation_p.E929K|NEK1_uc003isf.1_Missense_Mutation_p.E876K	NM_012224	NP_036356	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	945					cell division|cilium assembly|mitosis|protein phosphorylation	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(3)|ovary(2)|large_intestine(1)	6		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)						366				0.227273	11.762189	13.26528	5	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170347354	170347354	10720	4	C	T	T	T	377	29	NEK1	2	2
MORF4	10934	broad.mit.edu	37	4	174537540	174537540	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:174537540G>T	uc011cke.1	-	c.255C>A	c.(253-255)GAC>GAA	p.D85E		NM_006792	NP_006783			mortality factor 4												0		Prostate(90;0.00201)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0765)|all_hematologic(60;0.107)		all cancers(43;1.88e-18)|Epithelial(43;1.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)										0.169811	52.368263	68.787153	27	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	174537540	174537540	10096	4	G	T	T	T	464	36	MORF4	2	2
C4orf41	60684	broad.mit.edu	37	4	184626183	184626183	+	Silent	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:184626183G>T	uc003ivx.2	+	c.3015G>T	c.(3013-3015)CCG>CCT	p.P1005P	C4orf41_uc003ivw.2_Silent_p.P1005P|C4orf41_uc010isc.2_Silent_p.P349P|C4orf41_uc003ivy.2_Silent_p.P611P	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	hypothetical protein LOC60684 isoform a	1005											0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)										0.627451	215.570233	217.055708	64	38	KEEP	---	---	---	---	capture		Silent	SNP	184626183	184626183	2365	4	G	T	T	T	483	38	C4orf41	1	1
TUBB4Q	56604	broad.mit.edu	37	4	190904438	190904438	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:190904438G>T	uc011clg.1	-	c.542C>A	c.(541-543)CCC>CAC	p.P181H		NM_020040	NP_064424	Q99867	TBB4Q_HUMAN	tubulin, beta polypeptide 4, member Q	182					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)										0.592593	99.67497	100.07416	32	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	190904438	190904438	17314	4	G	T	T	T	559	43	TUBB4Q	2	2
DHX15	1665	broad.mit.edu	37	4	24531295	24531295	+	Nonsense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:24531295C>T	uc003gqx.2	-	c.2199G>A	c.(2197-2199)TGG>TGA	p.W733*	DHX15_uc003gqv.2_Nonsense_Mutation_p.W139*|DHX15_uc003gqw.2_Nonsense_Mutation_p.W156*	NM_001358	NP_001349	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 15	733					mRNA processing|RNA splicing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(1)	1		Breast(46;0.0503)												0.571429	124.21061	124.491274	36	27	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	24531295	24531295	4680	4	C	T	T	T	286	22	DHX15	5	2
LGI2	55203	broad.mit.edu	37	4	25014044	25014044	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:25014044C>A	uc003grf.2	-	c.733G>T	c.(733-735)GCC>TCC	p.A245S		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	245	EAR 1.					extracellular region					0		Breast(46;0.173)												0.27451	69.489253	74.084342	28	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25014044	25014044	9078	4	C	A	A	A	338	26	LGI2	2	2
ARAP2	116984	broad.mit.edu	37	4	36150074	36150074	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:36150074C>A	uc003gsq.1	-	c.2953G>T	c.(2953-2955)GCT>TCT	p.A985S		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	985	PH 3.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)	2														0.263158	25.146199	27.066248	10	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36150074	36150074	850	4	C	A	A	A	364	28	ARAP2	2	2
KIAA1211	57482	broad.mit.edu	37	4	57173832	57173832	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:57173832G>T	uc003hbk.2	+	c.252G>T	c.(250-252)CAG>CAT	p.Q84H	KIAA1211_uc010iha.2_Missense_Mutation_p.Q77H|KIAA1211_uc011bzz.1_5'Flank|KIAA1211_uc003hbl.2_5'Flank|KIAA1211_uc003hbm.1_5'Flank	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	84										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)													0.372549	54.812994	55.54004	19	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57173832	57173832	8523	4	G	T	T	T	438	34	KIAA1211	2	2
TMPRSS11A	339967	broad.mit.edu	37	4	68780441	68780441	+	Silent	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:68780441G>A	uc003hdr.1	-	c.969C>T	c.(967-969)TCC>TCT	p.S323S	LOC550112_uc003hdl.3_Intron|TMPRSS11A_uc003hds.1_Silent_p.S320S	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A isoform 1	323	Peptidase S1.|Extracellular (Potential).				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity				0						NSCLC(26;2 894 10941 14480 22546)								0.25	90.522643	98.014454	33	99	KEEP	---	---	---	---	capture		Silent	SNP	68780441	68780441	16779	4	G	A	A	A	548	43	TMPRSS11A	2	2
UGT2B7	7364	broad.mit.edu	37	4	69962880	69962880	+	Missense_Mutation	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:69962880G>A	uc003heg.3	+	c.642G>A	c.(640-642)ATG>ATA	p.M214I	UGT2B7_uc010ihq.2_Missense_Mutation_p.M214I	NM_001074	NP_001065	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2B7 precursor	214					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)	1														0.478723	136.682707	136.718137	45	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69962880	69962880	17520	4	G	A	A	A	585	45	UGT2B7	2	2
C4orf40	401137	broad.mit.edu	37	4	71024352	71024352	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:71024352C>A	uc003hfa.3	+	c.383C>A	c.(382-384)CCT>CAT	p.P128H	C4orf40_uc003hfb.3_Missense_Mutation_p.P128H	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN	hypothetical protein LOC401137 precursor	128	Ala-rich.					extracellular region					0														0.163121	37.259027	52.459301	23	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71024352	71024352	2364	4	C	A	A	A	312	24	C4orf40	2	2
MUC7	4589	broad.mit.edu	37	4	71347026	71347026	+	Missense_Mutation	SNP	A	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:71347026A>T	uc011cat.1	+	c.565A>T	c.(565-567)ACA>TCA	p.T189S	MUC7_uc011cau.1_Missense_Mutation_p.T189S|MUC7_uc003hfj.2_Missense_Mutation_p.T189S	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	mucin 7, secreted precursor	189	2.|Thr-rich.					extracellular region	protein binding			ovary(2)|central_nervous_system(1)	3			Lung(101;0.211)											0.209302	40.71361	47.435193	18	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71347026	71347026	10375	4	A	T	T	T	78	6	MUC7	3	3
ZNF595	152687	broad.mit.edu	37	4	87124	87124	+	Missense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:87124C>T	uc003fzv.1	+	c.1730C>T	c.(1729-1731)TCA>TTA	p.S577L	ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_Missense_Mutation_p.S345L|ZNF595_uc011but.1_Missense_Mutation_p.S345L	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN	zinc finger protein 595	577					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)										0.292683	30.880606	32.460447	12	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87124	87124	18620	4	C	T	T	T	377	29	ZNF595	2	2
SPARCL1	8404	broad.mit.edu	37	4	88416260	88416260	+	Missense_Mutation	SNP	G	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:88416260G>C	uc010ikm.2	-	c.74C>G	c.(73-75)TCT>TGT	p.S25C	SPARCL1_uc011cdc.1_Intron|SPARCL1_uc003hqs.3_Missense_Mutation_p.S25C|SPARCL1_uc011cdd.1_De_novo_Start_OutOfFrame|SPARCL1_uc003hqt.2_Missense_Mutation_p.S25C	NM_001128310	NP_001121782	Q14515	SPRL1_HUMAN	SPARC-like 1 precursor	25	O-glycosylated at two sites.				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding				0				OV - Ovarian serous cystadenocarcinoma(123;0.00118)										0.458333	193.396804	193.579764	55	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88416260	88416260	15504	4	G	C	C	C	429	33	SPARCL1	3	3
ADH5	128	broad.mit.edu	37	4	99996201	99996201	+	Splice_Site_SNP	SNP	C	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:99996201C>G	uc003hui.2	-	c.826_splice	c.e7-1	p.R276_splice	ADH5_uc003huj.2_Splice_Site_SNP_p.R154_splice	NM_000671	NP_000662			class III alcohol dehydrogenase, chi subunit						ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	NADH(DB00157)									0.421429	199.417637	200.167839	59	81	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	99996201	99996201	312	4	C	G	G	G	416	32	ADH5	5	3
DTWD2	285605	broad.mit.edu	37	5	118183794	118183794	+	Silent	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:118183794G>A	uc003ksa.2	-	c.717C>T	c.(715-717)TAC>TAT	p.Y239Y		NM_173666	NP_775937	Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	239											0		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)										0.344828	54.787966	56.018564	20	38	KEEP	---	---	---	---	capture		Silent	SNP	118183794	118183794	4977	5	G	A	A	A	620	48	DTWD2	2	2
MARCH3	115123	broad.mit.edu	37	5	126250695	126250695	+	Missense_Mutation	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:126250695G>A	uc003kuf.2	-	c.320C>T	c.(319-321)TCC>TTC	p.S107F	MARCH3_uc011cxc.1_Missense_Mutation_p.S107F	NM_178450	NP_848545	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3	107	RING-CH-type.				endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding				0		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)										0.657895	81.556443	82.390532	25	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126250695	126250695	9685	5	G	A	A	A	533	41	MARCH3	2	2
SLC27A6	28965	broad.mit.edu	37	5	128359320	128359320	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:128359320C>A	uc003kuy.2	+	c.1172C>A	c.(1171-1173)TCC>TAC	p.S391Y	SLC27A6_uc003kuz.2_Missense_Mutation_p.S391Y	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid	391					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding				0		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)										0.47619	28.346468	28.356949	10	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128359320	128359320	15027	5	C	A	A	A	390	30	SLC27A6	2	2
DNAH5	1767	broad.mit.edu	37	5	13766118	13766118	+	Silent	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:13766118C>T	uc003jfd.2	-	c.10068G>A	c.(10066-10068)TTG>TTA	p.L3356L	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3356	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|breast(1)|central_nervous_system(1)|pancreas(1)	17	Lung NSC(4;0.00476)													0.388571	201.714257	203.598299	68	107	KEEP	---	---	---	---	capture		Silent	SNP	13766118	13766118	4787	5	C	T	T	T	376	29	DNAH5	2	2
SLC4A9	83697	broad.mit.edu	37	5	139742515	139742515	+	Missense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:139742515C>T	uc003lfm.2	+	c.898C>T	c.(898-900)CGT>TGT	p.R300C	SLC4A9_uc003lfj.2_Missense_Mutation_p.R276C|SLC4A9_uc011czg.1_Missense_Mutation_p.R276C|SLC4A9_uc003lfl.2_Missense_Mutation_p.R276C|SLC4A9_uc003lfk.2_Missense_Mutation_p.R276C	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate	300	Cytoplasmic (Potential).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)									OREG0016461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.309859	64.792935	67.042651	22	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139742515	139742515	15157	5	C	T	T	T	403	31	SLC4A9	1	1
PCDHB10	56126	broad.mit.edu	37	5	140573673	140573673	+	Silent	SNP	C	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140573673C>G	uc003lix.2	+	c.1548C>G	c.(1546-1548)CTC>CTG	p.L516L		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	516	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.183168	83.289271	102.297677	37	165	KEEP	---	---	---	---	capture		Silent	SNP	140573673	140573673	11955	5	C	G	G	G	366	29	PCDHB10	3	3
PCDHGB2	56103	broad.mit.edu	37	5	140740006	140740006	+	Missense_Mutation	SNP	T	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140740006T>A	uc003ljs.1	+	c.304T>A	c.(304-306)TGT>AGT	p.C102S	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_uc011dar.1_Missense_Mutation_p.C102S	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	102	Extracellular (Potential).|Cadherin 1.				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)											0.617978	189.543537	190.630165	55	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140740006	140740006	11983	5	T	A	A	A	767	59	PCDHGB2	3	3
PCDHGA5	56110	broad.mit.edu	37	5	140746246	140746246	+	Missense_Mutation	SNP	G	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140746246G>C	uc003lju.1	+	c.2349G>C	c.(2347-2349)GAG>GAC	p.E783D	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_uc011das.1_Missense_Mutation_p.E783D	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	783	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.622642	226.998897	228.414797	66	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140746246	140746246	11977	5	G	C	C	C	425	33	PCDHGA5	3	3
FGF1	2246	broad.mit.edu	37	5	141993563	141993563	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:141993563C>A	uc003lmm.2	-	c.130G>T	c.(130-132)GGC>TGC	p.G44C	FGF1_uc011dbi.1_Missense_Mutation_p.G44C|FGF1_uc003lmn.3_Missense_Mutation_p.G44C|FGF1_uc003lmp.3_Missense_Mutation_p.G44C|FGF1_uc003lmq.2_Missense_Mutation_p.G44C|FGF1_uc010jgj.2_Missense_Mutation_p.G44C|FGF1_uc003lmr.2_Missense_Mutation_p.G44C|FGF1_uc003lms.3_Missense_Mutation_p.G44C	NM_001144892	NP_001138364	P05230	FGF1_HUMAN	fibroblast growth factor 1 (acidic) isoform 1	44					angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of intracellular protein kinase cascade	cell cortex|cytosol|extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|S100 alpha binding				0		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Pentosan Polysulfate(DB00686)					172				0.55102	85.229485	85.34088	27	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141993563	141993563	6075	5	C	A	A	A	273	21	FGF1	2	2
TRIO	7204	broad.mit.edu	37	5	14358319	14358319	+	Missense_Mutation	SNP	G	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:14358319G>C	uc003jff.2	+	c.2079G>C	c.(2077-2079)GAG>GAC	p.E693D	TRIO_uc003jfg.2_Non-coding_Transcript|TRIO_uc011cna.1_Missense_Mutation_p.E644D|TRIO_uc003jfh.1_Missense_Mutation_p.E342D	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	693					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				0.228571	15.558875	17.951468	8	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14358319	14358319	17102	5	G	C	C	C	438	34	TRIO	3	3
CLINT1	9685	broad.mit.edu	37	5	157218842	157218842	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:157218842C>A	uc011ddv.1	-	c.1249G>T	c.(1249-1251)GCC>TCC	p.A417S	CLINT1_uc003lxg.1_5'Flank|CLINT1_uc003lxh.1_5'UTR|CLINT1_uc003lxi.1_Missense_Mutation_p.A399S|CLINT1_uc003lxj.1_Missense_Mutation_p.A417S	NM_014666	NP_055481	Q14677	EPN4_HUMAN	epsin 4	417					endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			ovary(2)|pancreas(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			Colon(22;427 587 2170 6147 14291)								0.311111	35.94334	37.369231	14	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157218842	157218842	3669	5	C	A	A	A	325	25	CLINT1	2	2
FBXL7	23194	broad.mit.edu	37	5	15928376	15928376	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:15928376G>T	uc003jfn.1	+	c.505G>T	c.(505-507)GCC>TCC	p.A169S		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	169					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3														0.384615	15.374713	15.525428	5	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15928376	15928376	5961	5	G	T	T	T	494	38	FBXL7	1	1
FBXL7	23194	broad.mit.edu	37	5	15937076	15937076	+	Silent	SNP	C	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:15937076C>G	uc003jfn.1	+	c.1257C>G	c.(1255-1257)GGC>GGG	p.G419G		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	419	LRR 10.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3														0.26087	17.742149	18.930764	6	17	KEEP	---	---	---	---	capture		Silent	SNP	15937076	15937076	5961	5	C	G	G	G	327	26	FBXL7	3	3
N4BP3	23138	broad.mit.edu	37	5	177546877	177546877	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:177546877G>T	uc003mik.1	+	c.293G>T	c.(292-294)AGC>ATC	p.S98I	N4BP3_uc003mil.1_5'Flank	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Nedd4 binding protein 3	98						cytoplasmic vesicle membrane					0	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.581081	135.932966	136.357204	43	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	177546877	177546877	10508	5	G	T	T	T	442	34	N4BP3	2	2
CDH6	1004	broad.mit.edu	37	5	31294250	31294250	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:31294250G>T	uc003jhe.1	+	c.410G>T	c.(409-411)AGA>ATA	p.R137I	CDH6_uc003jhd.1_Missense_Mutation_p.R137I	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	137	Extracellular (Potential).|Cadherin 1.				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														0.189944	67.797673	83.853452	34	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31294250	31294250	3243	5	G	T	T	T	429	33	CDH6	2	2
CDH6	1004	broad.mit.edu	37	5	31299713	31299713	+	Silent	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:31299713C>T	uc003jhe.1	+	c.786C>T	c.(784-786)AAC>AAT	p.N262N	CDH6_uc003jhd.1_Silent_p.N262N	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	262	Extracellular (Potential).|Cadherin 2.				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														0.162791	25.561311	34.803922	14	72	KEEP	---	---	---	---	capture		Silent	SNP	31299713	31299713	3243	5	C	T	T	T	246	19	CDH6	1	1
CDH6	1004	broad.mit.edu	37	5	31323173	31323173	+	Missense_Mutation	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:31323173G>A	uc003jhe.1	+	c.2131G>A	c.(2131-2133)GAT>AAT	p.D711N		NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	711	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														0.225	22.059199	24.834677	9	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31323173	31323173	3243	5	G	A	A	A	481	37	CDH6	1	1
ADAMTS12	81792	broad.mit.edu	37	5	33588844	33588844	+	Silent	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33588844G>A	uc003jia.1	-	c.2725C>T	c.(2725-2727)CTG>TTG	p.L909L	ADAMTS12_uc010iuq.1_Silent_p.L824L	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	909	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|lung(1)|kidney(1)|skin(1)	7												OREG0016553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.354839	91.596698	93.302468	33	60	KEEP	---	---	---	---	capture		Silent	SNP	33588844	33588844	258	5	G	A	A	A	438	34	ADAMTS12	2	2
ADAMTS12	81792	broad.mit.edu	37	5	33658415	33658415	+	Missense_Mutation	SNP	T	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33658415T>A	uc003jia.1	-	c.1064A>T	c.(1063-1065)AAT>ATT	p.N355I	ADAMTS12_uc010iuq.1_Missense_Mutation_p.N355I	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	355	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|lung(1)|kidney(1)|skin(1)	7														0.357664	142.216151	144.668977	49	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33658415	33658415	258	5	T	A	A	A	676	52	ADAMTS12	3	3
SLC45A2	51151	broad.mit.edu	37	5	33982488	33982488	+	Missense_Mutation	SNP	C	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33982488C>G	uc003jid.2	-	c.415G>C	c.(415-417)GTT>CTT	p.V139L	SLC45A2_uc003jie.2_Missense_Mutation_p.V139L|SLC45A2_uc003jif.3_Missense_Mutation_p.V139L|SLC45A2_uc011coe.1_Missense_Mutation_p.V139L	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	membrane-associated transporter protein isoform	139	Helical; Name=4; (Potential).				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				ovary(2)	2						Ovarian(31;380 859 8490 22203 49048)								0.2	20.379793	23.72584	8	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33982488	33982488	15138	5	C	G	G	G	234	18	SLC45A2	3	3
C5orf33	133686	broad.mit.edu	37	5	36201245	36201245	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:36201245C>A	uc003jkf.3	-	c.975G>T	c.(973-975)AGG>AGT	p.R325S	C5orf33_uc003jke.3_Non-coding_Transcript|C5orf33_uc010iux.2_Missense_Mutation_p.R130S|C5orf33_uc003jkg.3_Missense_Mutation_p.R162S|C5orf33_uc011cov.1_Missense_Mutation_p.R184S	NM_001085411	NP_001078880	Q4G0N4	CE033_HUMAN	hypothetical protein LOC133686 isoform 1	325							NAD+ kinase activity			ovary(2)	2	all_lung(31;5.63e-05)		Epithelial(62;0.0254)|all cancers(62;0.0805)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)											0.144	29.128068	44.332634	18	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36201245	36201245	2390	5	C	A	A	A	285	22	C5orf33	2	2
CARD6	84674	broad.mit.edu	37	5	40853546	40853546	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:40853546G>T	uc003jmg.2	+	c.2112G>T	c.(2110-2112)GAG>GAT	p.E704D		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	704					apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5														0.325103	215.4315	222.034036	79	164	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40853546	40853546	2769	5	G	T	T	T	438	34	CARD6	2	2
HCN1	348980	broad.mit.edu	37	5	45262467	45262467	+	Silent	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:45262467C>T	uc003jok.2	-	c.2229G>A	c.(2227-2229)CCG>CCA	p.P743P		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	743	Gln-rich.|Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1														0.447368	52.998276	53.084651	17	21	KEEP	---	---	---	---	capture		Silent	SNP	45262467	45262467	7278	5	C	T	T	T	340	27	HCN1	1	1
HCN1	348980	broad.mit.edu	37	5	45262537	45262537	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:45262537G>T	uc003jok.2	-	c.2159C>A	c.(2158-2160)GCC>GAC	p.A720D		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	720	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1														0.388889	35.530031	35.922541	14	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45262537	45262537	7278	5	G	T	T	T	546	42	HCN1	2	2
ITGA2	3673	broad.mit.edu	37	5	52361674	52361674	+	Missense_Mutation	SNP	A	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:52361674A>C	uc003joy.2	+	c.1810A>C	c.(1810-1812)ATC>CTC	p.I604L	ITGA2_uc011cqa.1_Non-coding_Transcript|ITGA2_uc011cqb.1_Non-coding_Transcript|ITGA2_uc011cqc.1_Missense_Mutation_p.I528L|ITGA2_uc011cqd.1_Non-coding_Transcript|ITGA2_uc011cqe.1_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	604	FG-GAP 7.|Extracellular (Potential).				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)												0.316667	58.72659	60.507596	19	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52361674	52361674	8179	5	A	C	C	C	52	4	ITGA2	4	4
CD180	4064	broad.mit.edu	37	5	66479106	66479106	+	Missense_Mutation	SNP	A	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:66479106A>C	uc003juy.2	-	c.1565T>G	c.(1564-1566)ATG>AGG	p.M522R		NM_005582	NP_005573	Q99467	CD180_HUMAN	CD180 molecule precursor	522	LRR 18.|Extracellular (Potential).				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			ovary(1)	1		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)										0.26087	18.160324	19.337268	6	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66479106	66479106	3099	5	A	C	C	C	104	8	CD180	4	4
VCAN	1462	broad.mit.edu	37	5	82837721	82837721	+	Nonsense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:82837721G>T	uc003kii.3	+	c.8899G>T	c.(8899-8901)GAA>TAA	p.E2967*	VCAN_uc003kij.3_Nonsense_Mutation_p.E1980*|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Nonsense_Mutation_p.E1631*	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2967	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(3)|lung(2)|central_nervous_system(1)	13		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)										0.6625	170.793882	172.661258	53	27	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	82837721	82837721	17703	5	G	T	T	T	585	45	VCAN	5	2
TAS2R1	50834	broad.mit.edu	37	5	9629772	9629772	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:9629772G>T	uc003jem.1	-	c.373C>A	c.(373-375)CTG>ATG	p.L125M		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	taste receptor T2R1	125	Helical; Name=4; (Potential).				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			ovary(3)	3														0.386364	48.290936	48.77888	17	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9629772	9629772	16087	5	G	T	T	T	438	34	TAS2R1	2	2
ELOVL2	54898	broad.mit.edu	37	6	11005668	11005668	+	Silent	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:11005668G>A	uc003mzp.3	-	c.192C>T	c.(190-192)CTC>CTT	p.L64L		NM_017770	NP_060240	Q9NXB9	ELOV2_HUMAN	elongation of very long chain fatty acids-like	64					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding				0	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)											0.295082	47.723346	50.016806	18	43	KEEP	---	---	---	---	capture		Silent	SNP	11005668	11005668	5266	6	G	A	A	A	574	45	ELOVL2	2	2
LAMA4	3910	broad.mit.edu	37	6	112499347	112499347	+	Missense_Mutation	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:112499347G>A	uc003pvu.2	-	c.1165C>T	c.(1165-1167)CAT>TAT	p.H389Y	LAMA4_uc003pvv.2_Missense_Mutation_p.H382Y|LAMA4_uc003pvt.2_Missense_Mutation_p.H382Y	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	389	Potential.|Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)										0.181818	29.721687	37.031222	14	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112499347	112499347	8931	6	G	A	A	A	611	47	LAMA4	2	2
DSE	29940	broad.mit.edu	37	6	116720740	116720740	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:116720740G>T	uc011ebg.1	+	c.384G>T	c.(382-384)TTG>TTT	p.L128F	DSE_uc011ebf.1_Missense_Mutation_p.L109F|DSE_uc003pwq.1_Missense_Mutation_p.L109F|DSE_uc003pws.2_Missense_Mutation_p.L109F|DSE_uc003pwt.2_Missense_Mutation_p.L109F	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	dermatan sulfate epimerase precursor	109					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			ovary(1)	1		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)										0.269841	44.36274	47.364244	17	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116720740	116720740	4958	6	G	T	T	T	607	47	DSE	2	2
SLC35F1	222553	broad.mit.edu	37	6	118635234	118635234	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:118635234G>T	uc003pxx.3	+	c.1046G>T	c.(1045-1047)GGG>GTG	p.G349V	SLC35F1_uc003pxy.1_Missense_Mutation_p.G154V	NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	349	Helical; (Potential).				transport	integral to membrane				breast(1)	1				GBM - Glioblastoma multiforme(226;0.217)										0.405941	119.272248	120.047635	41	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118635234	118635234	15085	6	G	T	T	T	559	43	SLC35F1	2	2
LAMA2	3908	broad.mit.edu	37	6	129465092	129465092	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:129465092C>A	uc003qbn.2	+	c.686C>A	c.(685-687)TCT>TAT	p.S229Y	LAMA2_uc003qbo.2_Missense_Mutation_p.S229Y	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	229	Laminin N-terminal.				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)										0.491525	87.371768	87.375453	29	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129465092	129465092	8929	6	C	A	A	A	416	32	LAMA2	2	2
TMEM200A	114801	broad.mit.edu	37	6	130761972	130761972	+	Silent	SNP	T	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:130761972T>A	uc003qca.2	+	c.405T>A	c.(403-405)ATT>ATA	p.I135I	TMEM200A_uc010kfh.2_Silent_p.I135I|TMEM200A_uc010kfi.2_Silent_p.I135I|TMEM200A_uc003qcb.2_Silent_p.I135I	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	135	Helical; (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)						66				0.261905	57.728798	62.026787	22	62	KEEP	---	---	---	---	capture		Silent	SNP	130761972	130761972	16658	6	T	A	A	A	809	63	TMEM200A	3	3
TAAR2	9287	broad.mit.edu	37	6	132938383	132938383	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:132938383C>A	uc003qdl.1	-	c.962G>T	c.(961-963)TGG>TTG	p.W321L	TAAR2_uc010kfr.1_Missense_Mutation_p.W276L	NM_001033080	NP_001028252	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2 isoform 1	321	Helical; Name=7; (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)										0.282051	29.60637	31.27253	11	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132938383	132938383	16011	6	C	A	A	A	273	21	TAAR2	2	2
IFNGR1	3459	broad.mit.edu	37	6	137519417	137519417	+	Silent	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:137519417G>A	uc003qho.2	-	c.1221C>T	c.(1219-1221)CAC>CAT	p.H407H	IFNGR1_uc011edm.1_Silent_p.H379H	NM_000416	NP_000407	P15260	INGR1_HUMAN	interferon gamma receptor 1 precursor	407	Cytoplasmic (Potential).				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)									0.269841	47.763235	50.763917	17	46	KEEP	---	---	---	---	capture		Silent	SNP	137519417	137519417	7850	6	G	A	A	A	464	36	IFNGR1	2	2
VTA1	51534	broad.mit.edu	37	6	142491482	142491483	+	Splice_Site_DNP	DNP	GA	TT	TT			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:142491482_142491483GA>TT	uc003qiw.2	+	c.336_splice	c.e4-1	p.K112_splice	VTA1_uc011edt.1_Splice_Site_DNP|VTA1_uc011edu.1_Splice_Site_DNP_p.K54_splice	NM_016485	NP_057569			Vps20-associated 1 homolog						cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding				0	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)										0.192053	66.801386	80.164712	29	122	KEEP	---	---	---	---	capture		Splice_Site_DNP	DNP	142491482	142491483	17802	6	GA	TT	TT	TT	429	33	VTA1	5	2
UTRN	7402	broad.mit.edu	37	6	144769762	144769762	+	Silent	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:144769762G>T	uc003qkt.2	+	c.1929G>T	c.(1927-1929)GGG>GGT	p.G643G	UTRN_uc010khq.1_Silent_p.G643G	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	643	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(3)|pancreas(1)	4		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)										0.19	37.378709	46.360403	19	81	KEEP	---	---	---	---	capture		Silent	SNP	144769762	144769762	17668	6	G	T	T	T	522	41	UTRN	2	2
UTRN	7402	broad.mit.edu	37	6	145124231	145124231	+	Missense_Mutation	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:145124231G>A	uc003qkt.2	+	c.9305G>A	c.(9304-9306)CGA>CAA	p.R3102Q		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	3102	Interaction with SYNM.|ZZ-type.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(3)|pancreas(1)	4		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)										0.506329	131.103062	131.105873	40	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145124231	145124231	17668	6	G	A	A	A	481	37	UTRN	1	1
GRM1	2911	broad.mit.edu	37	6	146720526	146720526	+	Missense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:146720526C>T	uc010khw.1	+	c.2351C>T	c.(2350-2352)GCC>GTC	p.A784V	GRM1_uc010khv.1_Missense_Mutation_p.A784V|GRM1_uc003qll.2_Missense_Mutation_p.A784V|GRM1_uc011edz.1_Missense_Mutation_p.A784V|GRM1_uc011eea.1_Missense_Mutation_p.A784V	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	784	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)									0.246914	47.795216	52.49718	20	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146720526	146720526	7075	6	C	T	T	T	338	26	GRM1	2	2
MYLIP	29116	broad.mit.edu	37	6	16130937	16130937	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:16130937G>T	uc003nbq.2	+	c.237G>T	c.(235-237)AAG>AAT	p.K79N	MYLIP_uc003nbr.2_Intron	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting	79	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			pancreas(1)	1	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)											0.191781	34.311373	40.786412	14	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16130937	16130937	10450	6	G	T	T	T	464	36	MYLIP	2	2
THBS2	7058	broad.mit.edu	37	6	169637775	169637775	+	Silent	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:169637775G>A	uc003qwt.2	-	c.1245C>T	c.(1243-1245)TGC>TGT	p.C415C		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	415	TSP type-1 1.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(4)	4		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		Esophageal Squamous(91;219 1934 18562 44706)								0.3	41.908232	43.693629	15	35	KEEP	---	---	---	---	capture		Silent	SNP	169637775	169637775	16382	6	G	A	A	A	438	34	THBS2	2	2
HIST1H1E	3008	broad.mit.edu	37	6	26156692	26156692	+	Missense_Mutation	SNP	G	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:26156692G>C	uc003ngq.2	+	c.74G>C	c.(73-75)CGC>CCC	p.R25P	HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank	NM_005321	NP_005312	P10412	H14_HUMAN	histone cluster 1, H1e	25					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			large_intestine(1)|ovary(1)	2														0.733333	188.937499	192.618868	55	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26156692	26156692	7411	6	G	C	C	C	494	38	HIST1H1E	3	3
OR12D3	81797	broad.mit.edu	37	6	29342926	29342926	+	Missense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29342926C>T	uc003nme.2	-	c.139G>A	c.(139-141)GTT>ATT	p.V47I		NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D,	47	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)	3														0.738095	100.089103	102.331368	31	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29342926	29342926	11338	6	C	T	T	T	234	18	OR12D3	2	2
ZFP57	346171	broad.mit.edu	37	6	29641443	29641443	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29641443C>A	uc011dlw.1	-	c.445G>T	c.(445-447)GGC>TGC	p.G149C	ZFP57_uc003nnl.3_Missense_Mutation_p.G129C	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	zinc finger protein 57 homolog	78	KRAB.				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			ovary(3)	3														0.72	242.918325	247.266507	72	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29641443	29641443	18239	6	C	A	A	A	299	23	ZFP57	1	1
SPDEF	25803	broad.mit.edu	37	6	34508806	34508806	+	Silent	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:34508806G>A	uc003ojq.1	-	c.589C>T	c.(589-591)CTG>TTG	p.L197L	SPDEF_uc011dsq.1_Silent_p.L197L	NM_012391	NP_036523	O95238	SPDEF_HUMAN	SAM pointed domain containing ets transcription	197	PNT.				negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of survival gene product expression	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(3)|ovary(1)|central_nervous_system(1)	5														0.214286	14.333428	16.445346	6	22	KEEP	---	---	---	---	capture		Silent	SNP	34508806	34508806	15536	6	G	A	A	A	451	35	SPDEF	2	2
CPNE5	57699	broad.mit.edu	37	6	36710126	36710126	+	Silent	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:36710126G>T	uc003omr.1	-	c.1701C>A	c.(1699-1701)CCC>CCA	p.P567P	CPNE5_uc003omp.1_Silent_p.P275P|CPNE5_uc010jwn.1_Silent_p.P217P|CPNE5_uc003omq.1_Silent_p.P217P	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	copine V	567										skin(1)	1										537				0.690141	130.153475	132.452871	49	22	KEEP	---	---	---	---	capture		Silent	SNP	36710126	36710126	3953	6	G	T	T	T	548	43	CPNE5	2	2
C6orf154	221424	broad.mit.edu	37	6	43477341	43477341	+	Silent	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:43477341G>T	uc003ovk.1	-	c.183C>A	c.(181-183)CTC>CTA	p.L61L	C6orf154_uc003ovj.1_5'Flank	NM_001012974	NP_001012992	Q5JTD7	CF154_HUMAN	hypothetical protein LOC221424	61	LRR 1.										0	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)											0.263158	12.36556	13.330037	5	14	KEEP	---	---	---	---	capture		Silent	SNP	43477341	43477341	2443	6	G	T	T	T	574	45	C6orf154	2	2
PKHD1	5314	broad.mit.edu	37	6	51890939	51890939	+	Missense_Mutation	SNP	C	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:51890939C>G	uc003pah.1	-	c.3669G>C	c.(3667-3669)AGG>AGC	p.R1223S	PKHD1_uc003pai.2_Missense_Mutation_p.R1223S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1223	Extracellular (Potential).|IPT/TIG 7.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			ovary(12)|large_intestine(5)|central_nervous_system(3)	20	Lung NSC(77;0.0605)									1537				0.8	158.418727	163.436295	48	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51890939	51890939	12396	6	C	G	G	G	285	22	PKHD1	3	3
RREB1	6239	broad.mit.edu	37	6	7230139	7230139	+	Nonsense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:7230139G>T	uc003mxb.2	+	c.1807G>T	c.(1807-1809)GAG>TAG	p.E603*	RREB1_uc003mxc.2_Nonsense_Mutation_p.E603*|RREB1_uc010jnx.2_Nonsense_Mutation_p.E603*	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	603					multicellular organismal development|Ras protein signal transduction|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|transcription activator activity|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|breast(1)	9	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)												0.21875	15.375183	17.751703	7	25	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	7230139	7230139	14159	6	G	T	T	T	481	37	RREB1	5	1
PGM3	5238	broad.mit.edu	37	6	83881763	83881763	+	Missense_Mutation	SNP	T	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:83881763T>C	uc011dyz.1	-	c.1342A>G	c.(1342-1344)ATT>GTT	p.I448V	PGM3_uc003pjv.2_Missense_Mutation_p.I420V|PGM3_uc003pjw.2_Missense_Mutation_p.I339V	NM_015599	NP_056414	O95394	AGM1_HUMAN	phosphoglucomutase 3	420					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity				0		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)										0.301587	58.603133	60.816893	19	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83881763	83881763	12223	6	T	C	C	C	637	49	PGM3	4	4
SLC26A5	375611	broad.mit.edu	37	7	103038452	103038452	+	Nonsense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:103038452C>A	uc003vbz.2	-	c.898G>T	c.(898-900)GGA>TGA	p.G300*	SLC26A5_uc003vbt.1_Nonsense_Mutation_p.G300*|SLC26A5_uc003vbu.1_Nonsense_Mutation_p.G300*|SLC26A5_uc003vbv.1_Nonsense_Mutation_p.G300*|SLC26A5_uc003vbw.2_Non-coding_Transcript|SLC26A5_uc003vbx.2_Nonsense_Mutation_p.G300*|SLC26A5_uc003vby.2_Non-coding_Transcript|SLC26A5_uc010liy.2_Non-coding_Transcript	NM_198999	NP_945350	P58743	S26A5_HUMAN	prestin isoform a	300	Helical; Name=7; (Potential).				regulation of cell shape|sensory perception of sound	integral to membrane	motor activity|secondary active sulfate transmembrane transporter activity			ovary(1)	1														0.271605	53.468735	57.247313	22	59	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	103038452	103038452	15017	7	C	A	A	A	286	22	SLC26A5	5	2
PTPRZ1	5803	broad.mit.edu	37	7	121674370	121674370	+	Missense_Mutation	SNP	C	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:121674370C>G	uc003vjy.2	+	c.5222C>G	c.(5221-5223)ACA>AGA	p.T1741R	PTPRZ1_uc003vjz.2_Missense_Mutation_p.T874R|PTPRZ1_uc011knt.1_Missense_Mutation_p.T331R	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1741	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9														0.306122	48.808111	50.449732	15	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121674370	121674370	13272	7	C	G	G	G	221	17	PTPRZ1	3	3
PAX4	5078	broad.mit.edu	37	7	127255536	127255536	+	Silent	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:127255536G>T	uc010lld.1	-	c.39C>A	c.(37-39)CCC>CCA	p.P13P	PAX4_uc003vmf.2_5'UTR|PAX4_uc003vmg.1_Silent_p.P13P|PAX4_uc003vmh.2_5'UTR	NM_006193	NP_006184	O43316	PAX4_HUMAN	paired box 4	21	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1						Ovarian(113;737 1605 7858 27720 34092)								0.360825	88.410403	90.099395	35	62	KEEP	---	---	---	---	capture		Silent	SNP	127255536	127255536	11901	7	G	T	T	T	548	43	PAX4	2	2
FAM71F1	84691	broad.mit.edu	37	7	128357051	128357051	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:128357051G>T	uc003vno.1	+	c.434G>T	c.(433-435)AGG>ATG	p.R145M	FAM71F1_uc010llo.1_Missense_Mutation_p.R46M|FAM71F1_uc011koq.1_Missense_Mutation_p.E69D|FAM71F1_uc003vnm.1_Non-coding_Transcript|FAM71F1_uc003vnn.1_Missense_Mutation_p.E66D|FAM71F1_uc010llp.1_Non-coding_Transcript|FAM71F1_uc003vnp.1_Missense_Mutation_p.R145M	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	testes development-related NYD-SP18	145											0														0.272727	14.737676	15.764125	6	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128357051	128357051	5836	7	G	T	T	T	455	35	FAM71F1	2	2
CPA4	51200	broad.mit.edu	37	7	129962387	129962387	+	Silent	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:129962387C>T	uc003vpr.2	+	c.1137C>T	c.(1135-1137)TTC>TTT	p.F379F	CPA4_uc011kpd.1_Silent_p.F346F|CPA4_uc011kpe.1_Silent_p.F275F	NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4 preproprotein	379					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)													0.183673	33.826244	43.148886	18	80	KEEP	---	---	---	---	capture		Silent	SNP	129962387	129962387	3930	7	C	T	T	T	376	29	CPA4	2	2
CPA1	1357	broad.mit.edu	37	7	130023266	130023266	+	Missense_Mutation	SNP	G	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:130023266G>C	uc003vpx.2	+	c.518G>C	c.(517-519)TGG>TCG	p.W173S	CPA1_uc011kpf.1_Missense_Mutation_p.W85S|CPA1_uc003vpw.2_Intron	NM_001868	NP_001859	P15085	CBPA1_HUMAN	carboxypeptidase A1 precursor	173					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)													0.30303	27.93615	29.079705	10	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130023266	130023266	3927	7	G	C	C	C	611	47	CPA1	3	3
DGKI	9162	broad.mit.edu	37	7	137150727	137150727	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:137150727G>T	uc003vtt.2	-	c.2563C>A	c.(2563-2565)CCA>ACA	p.P855T	DGKI_uc003vtu.2_Missense_Mutation_p.P565T	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	855					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2														0.123288	12.18563	22.267955	9	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137150727	137150727	4650	7	G	T	T	T	559	43	DGKI	2	2
DGKI	9162	broad.mit.edu	37	7	137255965	137255965	+	Missense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:137255965C>T	uc003vtt.2	-	c.1903G>A	c.(1903-1905)GAT>AAT	p.D635N	DGKI_uc003vtu.2_Missense_Mutation_p.D335N	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	635					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2														0.25641	24.856904	26.939068	10	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137255965	137255965	4650	7	C	T	T	T	377	29	DGKI	2	2
TBXAS1	6916	broad.mit.edu	37	7	139715629	139715629	+	Missense_Mutation	SNP	T	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:139715629T>A	uc011kqv.1	+	c.1474T>A	c.(1474-1476)TGG>AGG	p.W492R	TBXAS1_uc003vvh.2_Missense_Mutation_p.W446R|TBXAS1_uc010lne.2_Missense_Mutation_p.W378R|TBXAS1_uc011kqu.1_Missense_Mutation_p.W397R|TBXAS1_uc003vvi.2_Missense_Mutation_p.W446R|TBXAS1_uc003vvj.2_Missense_Mutation_p.W446R|TBXAS1_uc011kqw.1_Missense_Mutation_p.W426R	NM_001130966	NP_001124438	P24557	THAS_HUMAN	thromboxane A synthase 1, platelet isoform	445	Cytoplasmic (Potential).				hormone biosynthetic process|oxidation-reduction process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|thromboxane-A synthase activity			ovary(2)|breast(1)	3	Melanoma(164;0.0142)													0.245614	37.521816	40.880678	14	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139715629	139715629	16190	7	T	A	A	A	715	55	TBXAS1	3	3
DENND2A	27147	broad.mit.edu	37	7	140246656	140246656	+	Silent	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:140246656G>A	uc010lnj.2	-	c.2121C>T	c.(2119-2121)TTC>TTT	p.F707F	DENND2A_uc011kre.1_Non-coding_Transcript|DENND2A_uc010lnk.2_Silent_p.F707F|DENND2A_uc003vvw.2_Silent_p.F707F|DENND2A_uc003vvx.2_Silent_p.F707F	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	707	DENN.									ovary(3)|breast(1)	4	Melanoma(164;0.00956)													0.555556	48.230855	48.304267	15	12	KEEP	---	---	---	---	capture		Silent	SNP	140246656	140246656	4608	7	G	A	A	A	529	41	DENND2A	2	2
PRSS1	5644	broad.mit.edu	37	7	142459794	142459794	+	Missense_Mutation	SNP	T	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142459794T>A	uc003wak.2	+	c.370T>A	c.(370-372)TCC>ACC	p.S124T	TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Missense_Mutation_p.S64T	NM_002769	NP_002760	P07477	TRY1_HUMAN	protease, serine, 1 preproprotein	124	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)											0.516129	136.81525	136.839072	48	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142459794	142459794	13064	7	T	A	A	A	754	58	PRSS1	3	3
TRPV6	55503	broad.mit.edu	37	7	142569542	142569542	+	Missense_Mutation	SNP	C	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142569542C>G	uc003wbx.1	-	c.2096G>C	c.(2095-2097)CGG>CCG	p.R699P	TRPV6_uc003wbw.1_Missense_Mutation_p.R485P|TRPV6_uc010lou.1_Missense_Mutation_p.R570P	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	699	Interaction with calmodulin.|Cytoplasmic (Potential).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(1)	1	Melanoma(164;0.059)													0.145161	16.212717	23.657633	9	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142569542	142569542	17151	7	C	G	G	G	299	23	TRPV6	3	3
TRPV6	55503	broad.mit.edu	37	7	142573311	142573311	+	Silent	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142573311G>T	uc003wbx.1	-	c.1032C>A	c.(1030-1032)ACC>ACA	p.T344T	TRPV6_uc003wbw.1_Silent_p.T130T|TRPV6_uc010lou.1_Silent_p.T215T	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	344	Helical; (Potential).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(1)	1	Melanoma(164;0.059)													0.276423	90.598562	96.132374	34	89	KEEP	---	---	---	---	capture		Silent	SNP	142573311	142573311	17151	7	G	T	T	T	600	47	TRPV6	2	2
OR9A2	135924	broad.mit.edu	37	7	142723355	142723355	+	Missense_Mutation	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142723355G>A	uc003wcc.1	-	c.865C>T	c.(865-867)CGG>TGG	p.R289W		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A,	289	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.059)													0.21875	34.714435	39.379973	14	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142723355	142723355	11659	7	G	A	A	A	480	37	OR9A2	1	1
TAS2R41	259287	broad.mit.edu	37	7	143175820	143175820	+	Silent	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143175820C>T	uc003wdc.1	+	c.855C>T	c.(853-855)TTC>TTT	p.F285F		NM_176883	NP_795364	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	285	Helical; Name=7; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			pancreas(1)	1	Melanoma(164;0.15)													0.166667	14.469895	19.527812	8	40	KEEP	---	---	---	---	capture		Silent	SNP	143175820	143175820	16101	7	C	T	T	T	376	29	TAS2R41	2	2
OR2F2	135948	broad.mit.edu	37	7	143632996	143632997	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143632996_143632997CC>AA	uc011ktv.1	+	c.671_672CC>AA	c.(670-672)ACC>AAA	p.T224K		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F,	224	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Melanoma(164;0.0903)													0.490566	87.660073	87.663769	26	27	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	143632996	143632997	11403	7	CC	AA	AA	AA	234	18	OR2F2	2	2
OR2F1	26211	broad.mit.edu	37	7	143657299	143657299	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143657299C>A	uc003wds.1	+	c.236C>A	c.(235-237)CCT>CAT	p.P79H		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F,	79	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.0903)													0.25498	159.203617	172.867812	64	187	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143657299	143657299	11402	7	C	A	A	A	312	24	OR2F1	2	2
MEOX2	4223	broad.mit.edu	37	7	15652076	15652076	+	Missense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:15652076C>T	uc003stc.2	-	c.851G>A	c.(850-852)GGG>GAG	p.G284E	MEOX2_uc011jxw.1_Missense_Mutation_p.G284E	NM_005924	NP_005915	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	284					blood circulation|multicellular organismal development|regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		Esophageal Squamous(140;197 1769 16409 18257 29929)								0.223881	77.889361	87.281772	30	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15652076	15652076	9863	7	C	T	T	T	286	22	MEOX2	2	2
MPP6	51678	broad.mit.edu	37	7	24705690	24705690	+	Missense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:24705690C>T	uc003swx.2	+	c.934C>T	c.(934-936)CTC>TTC	p.L312F	MPP6_uc003swy.2_Missense_Mutation_p.L312F|MPP6_uc010kur.2_5'UTR	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6	312					protein complex assembly		protein binding				0														0.168889	81.508923	104.883799	38	187	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24705690	24705690	10130	7	C	T	T	T	416	32	MPP6	2	2
HOXA5	3202	broad.mit.edu	37	7	27182769	27182769	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:27182769G>T	uc003syn.1	-	c.458C>A	c.(457-459)GCC>GAC	p.A153D		NM_019102	NP_061975	P20719	HXA5_HUMAN	homeobox A5	153					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0						Colon(119;75 2200 7557 42868)								0.254902	88.104776	96.497446	39	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27182769	27182769	7587	7	G	T	T	T	546	42	HOXA5	2	2
CARD11	84433	broad.mit.edu	37	7	2972221	2972221	+	Splice_Site_SNP	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:2972221C>T	uc003smv.2	-	c.1519_splice	c.e11-1	p.L507_splice		NM_032415	NP_115791			caspase recruitment domain family, member 11						positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|central_nervous_system(1)	48		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)						1492				0.347826	23.791903	24.262528	8	15	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	2972221	2972221	2764	7	C	T	T	T	364	28	CARD11	5	2
NT5C3	51251	broad.mit.edu	37	7	33055308	33055308	+	Silent	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:33055308G>A	uc003tdk.2	-	c.883C>T	c.(883-885)CTG>TTG	p.L295L	AVL9_uc011kai.1_Intron|NT5C3_uc003tdi.2_Silent_p.L256L|NT5C3_uc003tdj.2_Silent_p.L256L	NM_001002010	NP_001002010	Q9H0P0	5NT3_HUMAN	5'-nucleotidase, cytosolic III isoform 1	295					nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol|endoplasmic reticulum	2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding			ovary(1)	1			GBM - Glioblastoma multiforme(11;0.0894)											0.277778	98.292308	103.88132	35	91	KEEP	---	---	---	---	capture		Silent	SNP	33055308	33055308	11093	7	G	A	A	A	425	33	NT5C3	2	2
BBS9	27241	broad.mit.edu	37	7	33427748	33427748	+	Missense_Mutation	SNP	T	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:33427748T>A	uc003tdn.1	+	c.2107T>A	c.(2107-2109)TAC>AAC	p.Y703N	BBS9_uc003tdo.1_Missense_Mutation_p.Y668N|BBS9_uc003tdp.1_Missense_Mutation_p.Y698N|BBS9_uc003tdq.1_Missense_Mutation_p.Y663N|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc003tdr.1_Missense_Mutation_p.Y227N|BBS9_uc003tds.1_Missense_Mutation_p.Y126N|BBS9_uc003tdt.2_Non-coding_Transcript	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	703					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|skin(1)	4			GBM - Glioblastoma multiforme(11;0.0894)											0.223881	106.744952	120.880685	45	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33427748	33427748	1363	7	T	A	A	A	689	53	BBS9	3	3
SDK1	221935	broad.mit.edu	37	7	4169711	4169711	+	Missense_Mutation	SNP	G	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:4169711G>C	uc003smx.2	+	c.4111G>C	c.(4111-4113)GAG>CAG	p.E1371Q	SDK1_uc010kso.2_Missense_Mutation_p.E647Q|SDK1_uc003smy.2_5'UTR	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1371	Fibronectin type-III 7.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)	5		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)										0.228916	50.594794	56.179654	19	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4169711	4169711	14454	7	G	C	C	C	533	41	SDK1	3	3
GLI3	2737	broad.mit.edu	37	7	42006172	42006172	+	Silent	SNP	G	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:42006172G>C	uc011kbh.1	-	c.2499C>G	c.(2497-2499)CTC>CTG	p.L833L	GLI3_uc011kbg.1_Silent_p.L774L	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	833					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				0.216561	90.594245	102.20604	34	123	KEEP	---	---	---	---	capture		Silent	SNP	42006172	42006172	6707	7	G	C	C	C	418	33	GLI3	3	3
ABCA13	154664	broad.mit.edu	37	7	48337962	48337962	+	Splice_Site_SNP	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:48337962G>T	uc003toq.2	+	c.9200_splice	c.e23-1	p.D3067_splice	ABCA13_uc010kys.1_Splice_Site_SNP_p.D141_splice	NM_152701	NP_689914			ATP binding cassette, sub-family A (ABC1),						transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10														0.291667	35.728592	37.596074	14	34	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	48337962	48337962	32	7	G	T	T	T	429	33	ABCA13	5	2
CACNA2D1	781	broad.mit.edu	37	7	81641520	81641520	+	Missense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:81641520C>T	uc003uhr.1	-	c.1312G>A	c.(1312-1314)GGA>AGA	p.G438R		NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	438	Extracellular (Potential).					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)									0.142857	15.962225	22.84416	8	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81641520	81641520	2664	7	C	T	T	T	312	24	CACNA2D1	2	2
CLDN12	9069	broad.mit.edu	37	7	90042182	90042182	+	Silent	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:90042182C>T	uc003ukp.2	+	c.192C>T	c.(190-192)AGC>AGT	p.S64S	CLDN12_uc003ukq.2_Silent_p.S64S|CLDN12_uc010leq.2_Silent_p.S64S|CLDN12_uc003ukr.2_Silent_p.S64S|CLDN12_uc003uks.2_Silent_p.S64S	NM_012129	NP_036261	P56749	CLD12_HUMAN	claudin 12	64	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0														0.528302	145.627996	145.698527	56	50	KEEP	---	---	---	---	capture		Silent	SNP	90042182	90042182	3610	7	C	T	T	T	324	25	CLDN12	2	2
PTCD1	26024	broad.mit.edu	37	7	99022675	99022675	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:99022675C>A	uc011kiw.1	-	c.1627G>T	c.(1627-1629)GCC>TCC	p.A543S	PTCD1_uc003uqh.2_Missense_Mutation_p.A494S	NM_015545	NP_056360	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	494										ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)											0.225806	46.621495	52.97991	21	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99022675	99022675	13181	7	C	A	A	A	338	26	PTCD1	2	2
CYP3A5	1577	broad.mit.edu	37	7	99261603	99261603	+	Silent	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:99261603G>A	uc003urq.2	-	c.786C>T	c.(784-786)AAC>AAT	p.N262N	ZNF498_uc003urn.2_Intron|CYP3A5_uc003urp.2_Silent_p.N82N|CYP3A5_uc003urr.2_Silent_p.N149N|CYP3A5_uc011kiy.1_Silent_p.N252N|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	NM_000777	NP_000768	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A,	262					alkaloid catabolic process|drug catabolic process|oxidative demethylation|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				Alfentanil(DB00802)|Clopidogrel(DB00758)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Indinavir(DB00224)|Irinotecan(DB00762)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Mephenytoin(DB00532)|Midazolam(DB00683)|Mifepristone(DB00834)|Phenytoin(DB00252)|Quinine(DB00468)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Troleandomycin(DB01361)|Verapamil(DB00661)|Vincristine(DB00541)									0.125	11.092614	19.853373	8	56	KEEP	---	---	---	---	capture		Silent	SNP	99261603	99261603	4345	7	G	A	A	A	516	40	CYP3A5	1	1
GPC2	221914	broad.mit.edu	37	7	99768065	99768065	+	Missense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:99768065C>T	uc003utv.2	-	c.1528G>A	c.(1528-1530)GAT>AAT	p.D510N	GAL3ST4_uc003utt.2_5'Flank|GAL3ST4_uc003utu.2_5'Flank|GAL3ST4_uc010lgq.2_5'Flank|GPC2_uc010lgr.2_Non-coding_Transcript	NM_152742	NP_689955	Q8N158	GPC2_HUMAN	glypican 2 precursor	510						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|pancreas(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)													0.5	43.877981	43.877981	13	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99768065	99768065	6872	7	C	T	T	T	416	32	GPC2	2	2
VPS13B	157680	broad.mit.edu	37	8	100865784	100865784	+	Silent	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:100865784C>T	uc003yiv.2	+	c.10242C>T	c.(10240-10242)CTC>CTT	p.L3414L	VPS13B_uc003yiw.2_Silent_p.L3389L	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3414					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			Colon(161;2205 2542 7338 31318)				1116				0.44	100.166867	100.401634	33	42	KEEP	---	---	---	---	capture		Silent	SNP	100865784	100865784	17757	8	C	T	T	T	366	29	VPS13B	2	2
RP1L1	94137	broad.mit.edu	37	8	10465293	10465293	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10465293C>A	uc003wtc.2	-	c.6315G>T	c.(6313-6315)GAG>GAT	p.E2105D		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2105					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)										0.315508	155.85397	161.519044	59	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10465293	10465293	14012	8	C	A	A	A	311	24	RP1L1	2	2
RIMS2	9699	broad.mit.edu	37	8	105105868	105105868	+	Missense_Mutation	SNP	T	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:105105868T>C	uc003yls.2	+	c.2891T>C	c.(2890-2892)ATC>ACC	p.I964T	RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.I1037T|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	410					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|zinc ion binding			ovary(6)|lung(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)							728				0.28	41.535389	43.707019	14	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105105868	105105868	13845	8	T	C	C	C	638	50	RIMS2	4	4
CSMD3	114788	broad.mit.edu	37	8	113237069	113237069	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113237069G>T	uc003ynu.2	-	c.11055C>A	c.(11053-11055)AAC>AAA	p.N3685K	CSMD3_uc003yns.2_Missense_Mutation_p.N2887K|CSMD3_uc003ynt.2_Missense_Mutation_p.N3645K|CSMD3_uc011lhx.1_Missense_Mutation_p.N3516K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3685	Cytoplasmic (Potential).					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)			0.442708	279.667231	280.212455	85	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113237069	113237069	4087	8	G	T	T	T	516	40	CSMD3	1	1
CSMD3	114788	broad.mit.edu	37	8	113420573	113420573	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113420573G>T	uc003ynu.2	-	c.5579C>A	c.(5578-5580)GCT>GAT	p.A1860D	CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Missense_Mutation_p.A1820D|CSMD3_uc011lhx.1_Missense_Mutation_p.A1756D	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1860	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)			0.4	171.966916	173.192769	56	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113420573	113420573	4087	8	G	T	T	T	442	34	CSMD3	2	2
CSMD3	114788	broad.mit.edu	37	8	113504807	113504807	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113504807C>A	uc003ynu.2	-	c.5189G>T	c.(5188-5190)GGT>GTT	p.G1730V	CSMD3_uc003yns.2_Missense_Mutation_p.G1002V|CSMD3_uc003ynt.2_Missense_Mutation_p.G1690V|CSMD3_uc011lhx.1_Missense_Mutation_p.G1626V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1730	Extracellular (Potential).|Sushi 9.					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)			0.179687	45.645905	58.005925	23	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113504807	113504807	4087	8	C	A	A	A	234	18	CSMD3	2	2
CSMD3	114788	broad.mit.edu	37	8	113988360	113988360	+	Missense_Mutation	SNP	G	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113988360G>C	uc003ynu.2	-	c.1048C>G	c.(1048-1050)CAC>GAC	p.H350D	CSMD3_uc003ynt.2_Missense_Mutation_p.H310D|CSMD3_uc011lhx.1_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	350	Extracellular (Potential).					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)			0.25641	43.664039	47.958703	20	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113988360	113988360	4087	8	G	C	C	C	611	47	CSMD3	3	3
ADCY8	114	broad.mit.edu	37	8	131848553	131848553	+	Missense_Mutation	SNP	A	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:131848553A>G	uc003ytd.3	-	c.2645T>C	c.(2644-2646)CTG>CCG	p.L882P	ADCY8_uc010mds.2_Missense_Mutation_p.L751P	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	882					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			large_intestine(1)|central_nervous_system(1)	2	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)											0.30303	51.397411	53.670726	20	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131848553	131848553	301	8	A	G	G	G	91	7	ADCY8	4	4
FAM135B	51059	broad.mit.edu	37	8	139263227	139263227	+	Silent	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139263227G>T	uc003yuy.2	-	c.399C>A	c.(397-399)GTC>GTA	p.V133V	FAM135B_uc003yux.2_Silent_p.V34V|FAM135B_uc003yuz.2_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	133										ovary(7)	7	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)											0.142857	28.490877	46.554349	21	126	KEEP	---	---	---	---	capture		Silent	SNP	139263227	139263227	5646	8	G	T	T	T	574	45	FAM135B	2	2
FAM135B	51059	broad.mit.edu	37	8	139263230	139263230	+	Missense_Mutation	SNP	C	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139263230C>G	uc003yuy.2	-	c.396G>C	c.(394-396)ATG>ATC	p.M132I	FAM135B_uc003yux.2_Missense_Mutation_p.M33I|FAM135B_uc003yuz.2_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	132										ovary(7)	7	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)											0.135714	23.809056	41.8984	19	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139263230	139263230	5646	8	C	G	G	G	273	21	FAM135B	3	3
EBF2	64641	broad.mit.edu	37	8	25747273	25747273	+	Missense_Mutation	SNP	G	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:25747273G>C	uc003xes.1	-	c.746C>G	c.(745-747)TCG>TGG	p.S249W	PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_5'Flank	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	early B-cell factor 2	249					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|transcription regulator activity			ovary(3)	3		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)								0.698413	154.215425	156.395435	44	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25747273	25747273	5067	8	G	C	C	C	481	37	EBF2	3	3
UNC5D	137970	broad.mit.edu	37	8	35606136	35606136	+	Missense_Mutation	SNP	A	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:35606136A>T	uc003xjr.1	+	c.1858A>T	c.(1858-1860)ATC>TTC	p.I620F	UNC5D_uc003xjs.1_Missense_Mutation_p.I615F|UNC5D_uc003xju.1_Missense_Mutation_p.I196F	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	620	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)										0.596774	126.809731	127.329209	37	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35606136	35606136	17553	8	A	T	T	T	104	8	UNC5D	3	3
FBXO25	26260	broad.mit.edu	37	8	401310	401310	+	Missense_Mutation	SNP	C	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:401310C>G	uc003wox.2	+	c.517C>G	c.(517-519)CTG>GTG	p.L173V	FBXO25_uc003woy.2_Missense_Mutation_p.L173V|FBXO25_uc003woz.2_Missense_Mutation_p.L106V|FBXO25_uc003wpa.2_5'UTR	NM_183421	NP_904357	Q8TCJ0	FBX25_HUMAN	F-box only protein 25 isoform 1	173						nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity			lung(1)	1		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)										0.295082	56.733339	59.020621	18	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	401310	401310	5973	8	C	G	G	G	415	32	FBXO25	3	3
HOOK3	84376	broad.mit.edu	37	8	42863026	42863026	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:42863026G>T	uc003xpr.2	+	c.1692G>T	c.(1690-1692)AAG>AAT	p.K564N		NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	golgi-associated microtubule-binding protein	564	Potential.|Required for interaction with MSR1.|Required for association with Golgi.				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			ovary(1)|breast(1)	2	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)											0.119048	11.40927	23.363996	10	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42863026	42863026	7576	8	G	T	T	T	425	33	HOOK3	2	2
C8orf22	492307	broad.mit.edu	37	8	49986681	49986681	+	Missense_Mutation	SNP	A	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:49986681A>G	uc003xqq.3	+	c.119A>G	c.(118-120)GAC>GGC	p.D40G		NM_001007176	NP_001007177	Q8WWR9	PDPFL_HUMAN	hypothetical protein LOC492307	40											0		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)												0.225	25.656456	28.433418	9	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49986681	49986681	2528	8	A	G	G	G	130	10	C8orf22	4	4
CHD7	55636	broad.mit.edu	37	8	61654428	61654428	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:61654428G>T	uc003xue.2	+	c.437G>T	c.(436-438)GGC>GTC	p.G146V		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	146					central nervous system development|chromatin assembly or disassembly|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	chromatin|nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|lung(1)|breast(1)|pancreas(1)	8		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)											0.555556	27.945827	27.993546	10	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61654428	61654428	3464	8	G	T	T	T	546	42	CHD7	2	2
EYA1	2138	broad.mit.edu	37	8	72127688	72127688	+	Nonsense_Mutation	SNP	T	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:72127688T>A	uc003xys.3	-	c.1531A>T	c.(1531-1533)AAA>TAA	p.K511*	EYA1_uc003xyr.3_Nonsense_Mutation_p.K476*|EYA1_uc003xyt.3_Nonsense_Mutation_p.K478*|EYA1_uc010lzf.2_Nonsense_Mutation_p.K438*|EYA1_uc003xyu.2_Nonsense_Mutation_p.K511*|EYA1_uc011lfe.1_Nonsense_Mutation_p.K505*|EYA1_uc003xyv.2_Nonsense_Mutation_p.K389*	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	511					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)											0.220183	54.940908	62.800778	24	85	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	72127688	72127688	5522	8	T	A	A	A	806	62	EYA1	5	3
TRPA1	8989	broad.mit.edu	37	8	72946498	72946498	+	Silent	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:72946498G>T	uc003xza.2	-	c.2670C>A	c.(2668-2670)ATC>ATA	p.I890I		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	890	Helical; Name=5; (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)									0.236364	29.4536	32.945755	13	42	KEEP	---	---	---	---	capture		Silent	SNP	72946498	72946498	17128	8	G	T	T	T	525	41	TRPA1	2	2
ZFHX4	79776	broad.mit.edu	37	8	77618691	77618691	+	Nonsense_Mutation	SNP	A	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77618691A>T	uc003yav.2	+	c.2368A>T	c.(2368-2370)AAG>TAG	p.K790*	ZFHX4_uc003yat.1_Nonsense_Mutation_p.K790*|ZFHX4_uc003yau.1_Nonsense_Mutation_p.K790*|ZFHX4_uc003yaw.1_Nonsense_Mutation_p.K790*	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	790					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)											0.307692	17.06307	17.937374	8	18	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	77618691	77618691	18223	8	A	T	T	T	13	1	ZFHX4	5	3
PEX2	5828	broad.mit.edu	37	8	77896354	77896354	+	Missense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77896354C>T	uc003yax.2	-	c.61G>A	c.(61-63)GAT>AAT	p.D21N	PEX2_uc003yay.2_Missense_Mutation_p.D21N|PEX2_uc003yaz.2_Missense_Mutation_p.D21N	NM_000318	NP_000309	P28328	PEX2_HUMAN	peroxin 2	21					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			ovary(1)	1														0.356589	134.311839	136.649716	46	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77896354	77896354	12167	8	C	T	T	T	390	30	PEX2	2	2
CA3	761	broad.mit.edu	37	8	86354306	86354306	+	Silent	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:86354306G>A	uc003ydj.2	+	c.237G>A	c.(235-237)CTG>CTA	p.L79L	CA3_uc011lfv.1_Non-coding_Transcript	NM_005181	NP_005172	P07451	CAH3_HUMAN	carbonic anhydrase III	79					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding				0														0.168421	29.35076	39.23871	16	79	KEEP	---	---	---	---	capture		Silent	SNP	86354306	86354306	2633	8	G	A	A	A	574	45	CA3	2	2
RUNX1T1	862	broad.mit.edu	37	8	93003909	93003909	+	Missense_Mutation	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:93003909G>A	uc011lgi.1	-	c.982C>T	c.(982-984)CAC>TAC	p.H328Y	RUNX1T1_uc003yfc.1_Missense_Mutation_p.H290Y|RUNX1T1_uc003yfd.2_Missense_Mutation_p.H317Y|RUNX1T1_uc003yfe.1_Missense_Mutation_p.H280Y|RUNX1T1_uc010mao.2_Missense_Mutation_p.H290Y|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Missense_Mutation_p.H280Y	NM_175636	NP_783554	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	317					generation of precursor metabolites and energy|regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|central_nervous_system(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(11;0.0141)							213				0.357143	133.57492	136.10562	50	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93003909	93003909	14227	8	G	A	A	A	624	48	RUNX1T1	2	2
OR13C9	286362	broad.mit.edu	37	9	107379868	107379868	+	Silent	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:107379868G>A	uc011lvr.1	-	c.618C>T	c.(616-618)TTC>TTT	p.F206F		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C,	206	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.321429	50.737403	52.319701	18	38	KEEP	---	---	---	---	capture		Silent	SNP	107379868	107379868	11345	9	G	A	A	A	581	45	OR13C9	2	2
RGS3	5998	broad.mit.edu	37	9	116224430	116224430	+	Missense_Mutation	SNP	C	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:116224430C>G	uc004bhq.2	+	c.364C>G	c.(364-366)CAA>GAA	p.Q122E	RGS3_uc004bhr.2_5'Flank|RGS3_uc004bhs.2_5'Flank	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	122					inactivation of MAPK activity|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3														0.333333	43.152822	44.1777	14	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116224430	116224430	13780	9	C	G	G	G	377	29	RGS3	3	3
OR1N1	138883	broad.mit.edu	37	9	125288811	125288811	+	Silent	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:125288811G>A	uc004bmn.1	-	c.762C>T	c.(760-762)TTC>TTT	p.F254F		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N,	254	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1														0.48	38.298315	38.307051	12	13	KEEP	---	---	---	---	capture		Silent	SNP	125288811	125288811	11375	9	G	A	A	A	581	45	OR1N1	2	2
NTNG2	84628	broad.mit.edu	37	9	135114645	135114645	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:135114645G>T	uc004cbh.2	+	c.1209G>T	c.(1207-1209)GAG>GAT	p.E403D		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	403	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)										0.238095	23.948888	26.56707	10	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135114645	135114645	11110	9	G	T	T	T	425	33	NTNG2	2	2
CAMSAP1	157922	broad.mit.edu	37	9	138712840	138712840	+	Missense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:138712840C>T	uc004cgr.3	-	c.3667G>A	c.(3667-3669)GTG>ATG	p.V1223M	CAMSAP1_uc004cgq.3_Missense_Mutation_p.V1113M|CAMSAP1_uc010nbg.2_Missense_Mutation_p.V945M	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	1223						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)										0.542169	135.548497	135.67459	45	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138712840	138712840	2728	9	C	T	T	T	247	19	CAMSAP1	1	1
NFIB	4781	broad.mit.edu	37	9	14146719	14146719	+	Silent	SNP	A	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:14146719A>T	uc003zlf.2	-	c.894T>A	c.(892-894)GCT>GCA	p.A298A	NFIB_uc003zld.2_Silent_p.A46A|NFIB_uc003zle.2_Silent_p.A298A|NFIB_uc011lmo.1_Silent_p.A298A	NM_005596	NP_005587	O00712	NFIB_HUMAN	nuclear factor I/B	298					DNA replication	nucleolus	sequence-specific DNA binding transcription factor activity				0				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		Esophageal Squamous(132;921 1730 14828 40753 46471)								0.65625	143.072938	144.470952	42	22	KEEP	---	---	---	---	capture		Silent	SNP	14146719	14146719	10771	9	A	T	T	T	80	7	NFIB	3	3
C9orf93	203238	broad.mit.edu	37	9	15721814	15721814	+	Nonsense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:15721814G>T	uc011lmu.1	+	c.1366G>T	c.(1366-1368)GAG>TAG	p.E456*	C9orf93_uc010mih.1_Nonsense_Mutation_p.E456*|C9orf93_uc003zmd.2_Nonsense_Mutation_p.E456*|C9orf93_uc003zme.2_Nonsense_Mutation_p.E363*	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	456	Potential.										0				GBM - Glioblastoma multiforme(50;4.84e-07)										0.706522	217.001196	220.510361	65	27	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	15721814	15721814	2622	9	G	T	T	T	585	45	C9orf93	5	2
C9orf131	138724	broad.mit.edu	37	9	35045018	35045018	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35045018C>A	uc003zvw.2	+	c.2392C>A	c.(2392-2394)CCT>ACT	p.P798T	C9orf131_uc003zvu.2_Missense_Mutation_p.P750T|C9orf131_uc003zvv.2_Missense_Mutation_p.P725T|C9orf131_uc003zvx.2_Missense_Mutation_p.P763T	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	hypothetical protein LOC138724 isoform A	798											0	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)											0.722892	580.687385	591.831142	180	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35045018	35045018	2570	9	C	A	A	A	286	22	C9orf131	2	2
KIAA2026	158358	broad.mit.edu	37	9	5968771	5968771	+	Missense_Mutation	SNP	C	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:5968771C>G	uc003zjq.3	-	c.1460G>C	c.(1459-1461)AGA>ACA	p.R487T		NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	487										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)										0.192308	20.18862	24.835191	10	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5968771	5968771	8581	9	C	G	G	G	416	32	KIAA2026	3	3
GLDC	2731	broad.mit.edu	37	9	6602161	6602161	+	Missense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:6602161C>T	uc003zkc.2	-	c.1103G>A	c.(1102-1104)AGG>AAG	p.R368K		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	368					glycine catabolic process|oxidation-reduction process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)									0.736842	146.950379	149.832937	42	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6602161	6602161	6701	9	C	T	T	T	312	24	GLDC	2	2
PRUNE2	158471	broad.mit.edu	37	9	79325909	79325909	+	Missense_Mutation	SNP	G	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:79325909G>C	uc010mpk.2	-	c.1281C>G	c.(1279-1281)GAC>GAG	p.D427E		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	427					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0														0.347826	23.98855	24.46058	8	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79325909	79325909	13092	9	G	C	C	C	620	48	PRUNE2	3	3
VPS13A	23230	broad.mit.edu	37	9	79933380	79933380	+	Missense_Mutation	SNP	T	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:79933380T>G	uc004akr.2	+	c.5186T>G	c.(5185-5187)ATT>AGT	p.I1729S	VPS13A_uc004akp.3_Missense_Mutation_p.I1729S|VPS13A_uc004akq.3_Missense_Mutation_p.I1729S|VPS13A_uc004aks.2_Missense_Mutation_p.I1690S|VPS13A_uc004akt.2_Missense_Mutation_p.I69S|VPS13A_uc010mpo.1_Missense_Mutation_p.I325S	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	1729					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	7														0.352941	89.805046	91.434279	30	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79933380	79933380	17756	9	T	G	G	G	676	52	VPS13A	4	4
FAM120AOS	158293	broad.mit.edu	37	9	96214681	96214681	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:96214681G>T	uc004atu.3	-	c.311C>A	c.(310-312)CCC>CAC	p.P104H	FAM120AOS_uc004atm.2_5'Flank|FAM120AOS_uc004atn.3_5'Flank|FAM120AOS_uc004ato.3_5'Flank|FAM120AOS_uc004atp.3_5'Flank|FAM120AOS_uc004atq.3_5'Flank|FAM120AOS_uc004atr.3_5'Flank|FAM120AOS_uc004ats.3_Intron|FAM120AOS_uc004att.3_Intron|FAM120A_uc004atv.2_Intron|FAM120A_uc004atw.2_Intron	NM_198841	NP_942138	Q5T036	F120S_HUMAN	hypothetical protein LOC158293	104	Arg-rich.										0														0.692308	28.175976	28.60358	9	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96214681	96214681	5613	9	G	T	T	T	559	43	FAM120AOS	2	2
GLRA4	441509	broad.mit.edu	37	X	102974190	102974190	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:102974190G>T	uc011mse.1	-	c.728C>A	c.(727-729)ACC>AAC	p.T243N	GLRA4_uc010nou.2_Missense_Mutation_p.T243N	NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4 precursor	243	Extracellular (Potential).					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity				0														0.774194	167.528827	171.808276	48	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102974190	102974190	6725	23	G	T	T	T	572	44	GLRA4	2	2
COL4A5	1287	broad.mit.edu	37	X	107823933	107823933	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:107823933G>T	uc004enz.1	+	c.856G>T	c.(856-858)GGT>TGT	p.G286C	COL4A5_uc011mso.1_Missense_Mutation_p.G286C|COL4A5_uc004eob.1_5'Flank	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	286	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4														0.275	27.18866	29.027924	11	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107823933	107823933	3832	23	G	T	T	T	455	35	COL4A5	2	2
CAPN6	827	broad.mit.edu	37	X	110490676	110490676	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:110490676G>T	uc004epc.1	-	c.1663C>A	c.(1663-1665)CAG>AAG	p.Q555K	CAPN6_uc011msu.1_Missense_Mutation_p.Q300K	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	calpain 6	555	C2.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6														0.878788	296.279409	310.195427	87	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110490676	110490676	2748	23	G	T	T	T	611	47	CAPN6	2	2
ODZ1	10178	broad.mit.edu	37	X	123526090	123526090	+	Missense_Mutation	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:123526090C>T	uc010nqy.2	-	c.5500G>A	c.(5500-5502)GGG>AGG	p.G1834R	ODZ1_uc011muj.1_Missense_Mutation_p.G1833R|ODZ1_uc004euj.2_Missense_Mutation_p.G1827R	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 1	1827	Extracellular (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				0.442623	85.320416	85.494739	27	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123526090	123526090	11239	23	C	T	T	T	273	21	ODZ1	2	2
ARHGAP36	158763	broad.mit.edu	37	X	130218276	130218276	+	Missense_Mutation	SNP	A	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:130218276A>G	uc004evz.2	+	c.643A>G	c.(643-645)ATT>GTT	p.I215V	ARHGAP36_uc004ewa.2_Missense_Mutation_p.I203V|ARHGAP36_uc004ewb.2_Missense_Mutation_p.I184V|ARHGAP36_uc004ewc.2_Missense_Mutation_p.I79V	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	hypothetical protein LOC158763 precursor	215					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)	3														0.230769	17.237294	18.963549	6	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130218276	130218276	895	23	A	G	G	G	52	4	ARHGAP36	4	4
GPR112	139378	broad.mit.edu	37	X	135438316	135438316	+	Silent	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135438316C>A	uc004ezu.1	+	c.6919C>A	c.(6919-6921)CGA>AGA	p.R2307R	GPR112_uc010nsb.1_Silent_p.R2102R|GPR112_uc010nsc.1_Intron	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	2307	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	11	Acute lymphoblastic leukemia(192;0.000127)									487				0.733333	79.165274	80.64326	22	8	KEEP	---	---	---	---	capture		Silent	SNP	135438316	135438316	6903	23	C	A	A	A	399	31	GPR112	1	1
BRS3	680	broad.mit.edu	37	X	135570277	135570277	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135570277G>T	uc004ezv.1	+	c.4G>T	c.(4-6)GCT>TCT	p.A2S		NM_001727	NP_001718	P32247	BRS3_HUMAN	bombesin-like receptor 3	2	Extracellular (Potential).				adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)													0.807692	69.188701	71.487183	21	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135570277	135570277	1553	23	G	T	T	T	546	42	BRS3	2	2
SOX3	6658	broad.mit.edu	37	X	139586803	139586803	+	Silent	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:139586803C>A	uc004fbd.1	-	c.423G>T	c.(421-423)CGG>CGT	p.R141R		NM_005634	NP_005625	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	141	HMG box.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			pancreas(1)	1	Acute lymphoblastic leukemia(192;7.65e-05)													0.666667	57.88774	58.620616	20	10	KEEP	---	---	---	---	capture		Silent	SNP	139586803	139586803	15451	23	C	A	A	A	327	26	SOX3	2	2
MAGEC3	139081	broad.mit.edu	37	X	140969218	140969218	+	Missense_Mutation	SNP	A	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:140969218A>G	uc011mwp.1	+	c.545A>G	c.(544-546)TAT>TGT	p.Y182C		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	182										skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.402778	92.304941	92.913488	29	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140969218	140969218	9563	23	A	G	G	G	208	16	MAGEC3	4	4
SPANXN3	139067	broad.mit.edu	37	X	142605183	142605183	+	Missense_Mutation	SNP	T	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:142605183T>C	uc004fbw.2	-	c.37A>G	c.(37-39)ACG>GCG	p.T13A		NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN	SPANX-N3 protein	13										ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.157895	41.414065	56.237471	21	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142605183	142605183	15500	23	T	C	C	C	754	58	SPANXN3	4	4
CXorf22	170063	broad.mit.edu	37	X	35988934	35988934	+	Missense_Mutation	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:35988934G>T	uc004ddj.2	+	c.1864G>T	c.(1864-1866)GCA>TCA	p.A622S	CXorf22_uc010ngv.2_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	622										large_intestine(1)|lung(1)|ovary(1)	3														0.642857	31.581373	31.834911	9	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35988934	35988934	4262	23	G	T	T	T	598	46	CXorf22	2	2
SYTL5	94122	broad.mit.edu	37	X	37961594	37961594	+	Splice_Site_SNP	SNP	G	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:37961594G>T	uc004ddx.2	+	c.1063_splice	c.e9-1	p.D355_splice	SYTL5_uc004ddu.2_Splice_Site_SNP_p.D355_splice|SYTL5_uc004ddv.2_Splice_Site_SNP_p.D355_splice	NM_001163334	NP_001156806			synaptotagmin-like 5 isoform 2						intracellular protein transport	membrane	Rab GTPase binding|zinc ion binding				0														0.678571	60.903973	61.688388	19	9	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	37961594	37961594	16007	23	G	T	T	T	455	35	SYTL5	5	2
KDM6A	7403	broad.mit.edu	37	X	44928907	44928907	+	Silent	SNP	C	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:44928907C>T	uc011mkz.1	+	c.2163C>T	c.(2161-2163)CTC>CTT	p.L721L	KDM6A_uc010nhk.2_Silent_p.L635L|KDM6A_uc004dge.3_Silent_p.L669L|KDM6A_uc011mla.1_Silent_p.L624L|KDM6A_uc011mlb.1_Silent_p.L676L|KDM6A_uc011mlc.1_Silent_p.L373L|KDM6A_uc011mld.1_Silent_p.L308L	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	669					histone H3-K4 methylation|oxidation-reduction process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						Colon(129;1273 1667 15230 27352 52914)				372				0.833333	68.913626	71.442544	20	4	KEEP	---	---	---	---	capture		Silent	SNP	44928907	44928907	8443	23	C	T	T	T	379	30	KDM6A	2	2
CCNB3	85417	broad.mit.edu	37	X	50053312	50053312	+	Missense_Mutation	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:50053312G>A	uc004dox.3	+	c.2143G>A	c.(2143-2145)GAG>AAG	p.E715K	CCNB3_uc004doy.2_Missense_Mutation_p.E715K|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	715					cell division|meiosis	nucleus				ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)													0.888889	28.019868	29.351744	8	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50053312	50053312	3041	23	G	A	A	A	533	41	CCNB3	2	2
HUWE1	10075	broad.mit.edu	37	X	53563173	53563173	+	Missense_Mutation	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:53563173C>A	uc004dsp.2	-	c.12466G>T	c.(12466-12468)GGT>TGT	p.G4156C	HUWE1_uc004dsn.2_Missense_Mutation_p.G2964C	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	4156	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17														0.885714	105.732178	110.858687	31	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53563173	53563173	7761	23	C	A	A	A	312	24	HUWE1	2	2
TRO	7216	broad.mit.edu	37	X	54956525	54956525	+	Missense_Mutation	SNP	C	G	G			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:54956525C>G	uc004dtq.2	+	c.3368C>G	c.(3367-3369)CCC>CGC	p.P1123R	TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Missense_Mutation_p.P654R|TRO_uc004dtw.2_Missense_Mutation_p.P726R|TRO_uc004dtx.2_Missense_Mutation_p.P506R	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	1123	62 X 10 AA approximate tandem repeats.|32.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1														0.636364	81.074494	81.763211	28	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54956525	54956525	17125	23	C	G	G	G	286	22	TRO	3	3
ZC3H12B	340554	broad.mit.edu	37	X	64718908	64718908	+	Missense_Mutation	SNP	G	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:64718908G>A	uc010nko.2	+	c.745G>A	c.(745-747)GAA>AAA	p.E249K		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	249							endonuclease activity|nucleic acid binding|zinc ion binding			lung(1)|kidney(1)|pancreas(1)	3														0.815534	284.650197	294.265125	84	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64718908	64718908	18150	23	G	A	A	A	533	41	ZC3H12B	2	2
CDX4	1046	broad.mit.edu	37	X	72673394	72673394	+	Missense_Mutation	SNP	G	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:72673394G>C	uc011mqk.1	+	c.544G>C	c.(544-546)GAT>CAT	p.D182H		NM_005193	NP_005184	O14627	CDX4_HUMAN	caudal type homeobox 4	182	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0	Renal(35;0.156)													0.272727	17.740047	18.764376	6	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72673394	72673394	3313	23	G	C	C	C	585	45	CDX4	3	3
RPS6KA6	27330	broad.mit.edu	37	X	83390111	83390111	+	Splice_Site_SNP	SNP	C	A	A			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:83390111C>A	uc004eej.1	-	c.608_splice	c.e7+1	p.N203_splice	RPS6KA6_uc011mqt.1_Splice_Site_SNP_p.N203_splice|RPS6KA6_uc011mqu.1_Splice_Site_SNP_p.N100_splice|RPS6KA6_uc010nmo.1_Splice_Site_SNP	NM_014496	NP_055311			ribosomal protein S6 kinase polypeptide 6						axon guidance|central nervous system development|intracellular protein kinase cascade|protein phosphorylation|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(5)	5										287				0.294118	15.077865	15.717145	5	12	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	83390111	83390111	14135	23	C	A	A	A	260	20	RPS6KA6	5	2
PABPC5	140886	broad.mit.edu	37	X	90691644	90691644	+	Missense_Mutation	SNP	A	T	T			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:90691644A>T	uc004efg.2	+	c.1068A>T	c.(1066-1068)AAA>AAT	p.K356N	PABPC5_uc004eff.1_Missense_Mutation_p.K192N	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	356	RRM 4.					cytoplasm	nucleotide binding|RNA binding			ovary(1)|lung(1)|pancreas(1)	3														0.885714	101.211817	106.327897	31	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90691644	90691644	11783	23	A	T	T	T	37	3	PABPC5	3	3
PTPRO	5800	broad.mit.edu	37	12	15713185	15713185	+	Frame_Shift_Del	DEL	C	-	-			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:15713185_15713185delC	uc001rcv.1	+	c.2686_2686delC	c.(2686-2688)CTTfs	p.L896fs	PTPRO_uc001rcw.1_Intron|PTPRO_uc001rcx.1_Frame_Shift_Del_p.L85fs|PTPRO_uc001rcy.1_Frame_Shift_Del_p.L85fs|PTPRO_uc001rcz.1_Intron|PTPRO_uc001rda.1_Intron	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O	896	Cytoplasmic (Potential).			L -> P (in Ref. 1; CAA88425 and 2; AAA82892).		integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)	3		Hepatocellular(102;0.244)												0.56			55	44		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	15713185	15713185	13266	12	C	-	-	-	416	32	PTPRO	5	5
PRKD1	5587	broad.mit.edu	37	14	30396583	30396583	+	Frame_Shift_Del	DEL	C	-	-			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:30396583_30396583delC	uc001wqh.2	-	c.136_136delG	c.(136-138)GTCfs	p.V46fs		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	46					cell proliferation|intracellular signal transduction|protein phosphorylation|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)						428				0.52			11	10		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	30396583	30396583	12961	14	C	-	-	-	234	18	PRKD1	5	5
POLDIP2	26073	broad.mit.edu	37	17	26684394	26684395	+	Splice_Site_Ins	INS	-	G	G	rs113730440		TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:26684394_26684395insG	uc002haz.2	-	c.78_splice	c.e2+1	p.W26_splice	POLDIP2_uc010wag.1_Non-coding_Transcript|TMEM199_uc002hba.2_5'Flank|SARM1_uc010wah.1_5'Flank	NM_015584	NP_056399			DNA polymerase delta interacting protein 2							mitochondrial nucleoid|nucleus					0	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)										0.33			4	8		---	---	---	---	capture_indel		Splice_Site_Ins	INS	26684394	26684395	12622	17	-	G	G	G	819	63	POLDIP2	5	5
TP53	7157	broad.mit.edu	37	17	7578474	7578474	+	Frame_Shift_Del	DEL	C	-	-			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7578474_7578474delC	uc002gim.2	-	c.456_456delG	c.(454-456)CCGfs	p.P152fs	TP53_uc002gig.1_Frame_Shift_Del_p.P152fs|TP53_uc002gih.2_Frame_Shift_Del_p.P152fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.P20fs|TP53_uc010cng.1_Frame_Shift_Del_p.P20fs|TP53_uc002gii.1_Frame_Shift_Del_p.P20fs|TP53_uc010cnh.1_Frame_Shift_Del_p.P152fs|TP53_uc010cni.1_Frame_Shift_Del_p.P152fs|TP53_uc002gij.2_Frame_Shift_Del_p.P152fs|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Frame_Shift_Del_p.P59fs|TP53_uc002gio.2_Frame_Shift_Del_p.P20fs|TP53_uc010vug.1_Frame_Shift_Del_p.P113fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	152	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		P -> R (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.P153fs*28(8)|p.0?(6)|p.P152P(5)|p.P152fs*14(4)|p.T150fs*16(3)|p.D148_T155delDSTPPPGT(1)|p.Q144_G154del11(1)|p.T150_P153delTPPP(1)|p.G154fs*27(1)|p.P153fs*16(1)|p.P152_P153insXXX(1)|p.P151_V173del23(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.G154fs*16(1)|p.P153fs*20(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		Pancreas(47;798 1329 9957 10801)		111	p.P152P(LNCAPCLONEFGC-Tumor)|p.P152fs(RH41-Tumor)|p.P152fs(HGC27-Tumor)|p.P152fs(KP3-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.54			31	26		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	7578474	7578474	16923	17	C	-	-	-	340	27	TP53	5	5
ARID1A	8289	broad.mit.edu	37	1	27092956	27092957	+	Frame_Shift_Ins	INS	-	C	C			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:27092956_27092957insC	uc001bmv.1	+	c.2887_2888insC	c.(2887-2889)GCCfs	p.A963fs	ARID1A_uc001bmt.1_Frame_Shift_Ins_p.A963fs|ARID1A_uc001bmu.1_Frame_Shift_Ins_p.A963fs|ARID1A_uc001bmw.1_Frame_Shift_Ins_p.A580fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	963					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding|transcription activator activity			ovary(124)|endometrium(3)|kidney(3)|central_nervous_system(2)|pancreas(2)|lung(1)|skin(1)	136		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)						478				0.30			13	30		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	27092956	27092957	928	1	-	C	C	C	442	34	ARID1A	5	5
APC	324	broad.mit.edu	37	5	112173704	112173704	+	Frame_Shift_Del	DEL	C	-	-			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:112173704_112173704delC	uc010jby.2	+	c.2413_2413delC	c.(2413-2415)CGAfs	p.R805fs	APC_uc011cvt.1_Frame_Shift_Del_p.R787fs|APC_uc003kpz.3_Frame_Shift_Del_p.R805fs|APC_uc003kpy.3_Frame_Shift_Del_p.R805fs|APC_uc010jbz.2_Frame_Shift_Del_p.R522fs|APC_uc010jca.2_Frame_Shift_Del_p.R105fs	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	805	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of protein catabolic process|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.R805*(1)|p.?(1)		large_intestine(2012)|stomach(123)|soft_tissue(55)|small_intestine(34)|pancreas(25)|breast(23)|urinary_tract(20)|lung(18)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|upper_aerodigestive_tract(6)|adrenal_gland(6)|NS(5)|bone(5)|skin(4)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2396		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		12		629	TSP Lung(16;0.13)			0.64			49	28		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	112173704	112173704	773	5	C	-	-	-	399	31	APC	5	5
DND1	373863	broad.mit.edu	37	5	140052285	140052285	+	Frame_Shift_Del	DEL	T	-	-			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140052285_140052285delT	uc003lgt.2	-	c.349_349delA	c.(349-351)ACGfs	p.T117fs		NM_194249	NP_919225	Q8IYX4	DND1_HUMAN	dead end homolog 1	117	RRM 1.				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.38			5	8		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	140052285	140052285	4849	5	T	-	-	-	767	59	DND1	5	5
ENPP3	5169	broad.mit.edu	37	6	132061443	132061444	+	Frame_Shift_Del	DEL	CC	-	-			TCGA-55-5899-01	TCGA-55-5899-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:132061443_132061444delCC	uc003qcu.3	+	c.2380_2381delCC	c.(2380-2382)CCGfs	p.P794fs	ENPP3_uc010kfq.2_Non-coding_Transcript|ENPP3_uc003qcv.2_Frame_Shift_Del_p.P794fs	NM_005021	NP_005012	O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	794	Extracellular (Potential).|Nuclease.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			ovary(3)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)										0.47			40	45		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	132061443	132061444	5324	6	CC	-	-	-	234	18	ENPP3	5	5
