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
NRAP	4892	broad.mit.edu	37	10	115370307	115370307	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:115370307C>A	uc001lal.3	-	c.3514G>T	c.(3514-3516)GAC>TAC	p.D1172Y	NRAP_uc009xyb.2_Intron|NRAP_uc001laj.2_Missense_Mutation_p.D1172Y|NRAP_uc001lak.2_Missense_Mutation_p.D1137Y	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	1172	Nebulin 30.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)	9		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)										0.116279	4.941508	11.176059	5	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115370307	115370307	11043	10	C	A	A	A	416	32	NRAP	2	2
DMBT1	1755	broad.mit.edu	37	10	124402655	124402655	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:124402655C>A	uc001lgk.1	+	c.6983C>A	c.(6982-6984)ACC>AAC	p.T2328N	DMBT1_uc001lgl.1_Missense_Mutation_p.T2318N|DMBT1_uc001lgm.1_Missense_Mutation_p.T1700N|DMBT1_uc009xzz.1_Missense_Mutation_p.T2327N|DMBT1_uc010qtx.1_Missense_Mutation_p.T1048N|DMBT1_uc009yab.1_Missense_Mutation_p.T1031N|DMBT1_uc009yac.1_Missense_Mutation_p.T622N	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	2328	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				Ovarian(182;93 2026 18125 22222 38972)								0.080645	-1.40969	9.717786	5	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124402655	124402655	4757	10	C	A	A	A	234	18	DMBT1	2	2
ZNF33A	7581	broad.mit.edu	37	10	38343848	38343848	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:38343848C>G	uc010qev.1	+	c.814C>G	c.(814-816)CAG>GAG	p.Q272E	ZNF33A_uc001izg.2_Missense_Mutation_p.Q266E|ZNF33A_uc001izh.2_Missense_Mutation_p.Q265E|ZNF33A_uc001izi.1_Intron	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	zinc finger protein 33A isoform b	265					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3														0.088889	3.468632	11.147855	4	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38343848	38343848	18446	10	C	G	G	G	377	29	ZNF33A	3	3
ARID5B	84159	broad.mit.edu	37	10	63851672	63851672	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:63851672G>T	uc001jlt.1	+	c.2450G>T	c.(2449-2451)AGG>ATG	p.R817M		NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	817					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription repressor activity			ovary(2)|kidney(1)	3	Prostate(12;0.016)|all_hematologic(501;0.215)													0.167785	39.667241	55.215509	25	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63851672	63851672	937	10	G	T	T	T	455	35	ARID5B	2	2
DDX50	79009	broad.mit.edu	37	10	70694586	70694586	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:70694586G>T	uc001jou.2	+	c.1433G>T	c.(1432-1434)CGC>CTC	p.R478L	DDX50_uc010qjc.1_Missense_Mutation_p.R478L	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	nucleolar protein GU2	478	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1														0.09375	7.966375	23.832457	9	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70694586	70694586	4539	10	G	T	T	T	494	38	DDX50	1	1
SH2D4B	387694	broad.mit.edu	37	10	82363385	82363385	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:82363385G>T	uc001kck.1	+	c.694G>T	c.(694-696)GCC>TCC	p.A232S	SH2D4B_uc001kcl.1_Missense_Mutation_p.A183S|SH2D4B_uc001kcm.1_5'UTR	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B isoform 1	231											0			Colorectal(32;0.229)											0.2	7.318185	8.572334	3	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82363385	82363385	14727	10	G	T	T	T	494	38	SH2D4B	1	1
CNTN5	53942	broad.mit.edu	37	11	100169930	100169930	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:100169930G>T	uc001pga.2	+	c.2422G>T	c.(2422-2424)GGC>TGC	p.G808C	CNTN5_uc001pfz.2_Missense_Mutation_p.G808C|CNTN5_uc001pgb.2_Missense_Mutation_p.G734C|CNTN5_uc010ruk.1_Missense_Mutation_p.G79C	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	808	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)						1117				0.103448	2.803881	7.344	3	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100169930	100169930	3782	11	G	T	T	T	507	39	CNTN5	1	1
EXPH5	23086	broad.mit.edu	37	11	108382260	108382260	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:108382260G>C	uc001pkk.2	-	c.3974C>G	c.(3973-3975)ACC>AGC	p.T1325S	EXPH5_uc010rvy.1_Missense_Mutation_p.T1137S|EXPH5_uc010rvz.1_Missense_Mutation_p.T1169S|EXPH5_uc010rwa.1_Missense_Mutation_p.T1249S	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5 isoform a	1325					intracellular protein transport		Rab GTPase binding			ovary(2)	2		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)										0.117647	10.612922	17.941114	6	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108382260	108382260	5516	11	G	C	C	C	572	44	EXPH5	3	3
TTC12	54970	broad.mit.edu	37	11	113222827	113222827	+	Silent	SNP	G	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:113222827G>T	uc001pnv.2	+	c.1362G>T	c.(1360-1362)CTG>CTT	p.L454L	TTC12_uc001pnu.2_Silent_p.L448L|TTC12_uc001pnw.2_Non-coding_Transcript|TTC12_uc001pnx.2_Silent_p.L298L	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	448							binding			pancreas(2)|central_nervous_system(1)	3		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)										0.076923	-1.175625	8.294596	4	48	KEEP	---	---	---	---	capture		Silent	SNP	113222827	113222827	17233	11	G	T	T	T	613	48	TTC12	2	2
ARHGEF12	23365	broad.mit.edu	37	11	120322257	120322257	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:120322257C>G	uc001pxl.1	+	c.1880C>G	c.(1879-1881)CCT>CGT	p.P627R	ARHGEF12_uc009zat.2_Missense_Mutation_p.P608R|ARHGEF12_uc010rzn.1_Missense_Mutation_p.P524R|ARHGEF12_uc009zau.1_Missense_Mutation_p.P524R	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	627					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)						1000				0.090909	2.379187	11.620865	5	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120322257	120322257	911	11	C	G	G	G	312	24	ARHGEF12	3	3
TECTA	7007	broad.mit.edu	37	11	120983865	120983865	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:120983865G>A	uc010rzo.1	+	c.571G>A	c.(571-573)GGG>AGG	p.G191R		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	191	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)	8	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)								OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.2	8.888426	10.562712	4	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120983865	120983865	16274	11	G	A	A	A	559	43	TECTA	2	2
UBASH3B	84959	broad.mit.edu	37	11	122667742	122667742	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:122667742G>T	uc001pyi.3	+	c.1357_splice	c.e9+1	p.G453_splice		NM_032873	NP_116262			ubiquitin associated and SH3 domain containing,							cytoplasm|nucleus	protein tyrosine phosphatase activity			central_nervous_system(1)	1		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)										0.065217	-1.812326	7.216978	3	43	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	122667742	122667742	17397	11	G	T	T	T	572	44	UBASH3B	5	2
SLC37A2	219855	broad.mit.edu	37	11	124949019	124949019	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124949019G>A	uc010sau.1	+	c.326G>A	c.(325-327)GGG>GAG	p.G109E	SLC37A2_uc001qbn.2_Missense_Mutation_p.G109E	NM_198277	NP_938018	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glycerol-3-phosphate	109					carbohydrate transport|transmembrane transport	integral to membrane				ovary(2)	2	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		Melanoma(11;373 620 21213 26083 47768)								0.05298	-17.307288	14.55943	8	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124949019	124949019	15095	11	G	A	A	A	559	43	SLC37A2	2	2
CALCB	797	broad.mit.edu	37	11	15098928	15098928	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:15098928C>A	uc001mlx.1	+	c.321C>A	c.(319-321)AAC>AAA	p.N107K	CALCB_uc009ygr.1_Missense_Mutation_p.N107K	NM_000728	NP_000719	P10092	CALCB_HUMAN	calcitonin-related polypeptide, beta precursor	107					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity				0														0.123077	10.552492	19.590422	8	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15098928	15098928	2692	11	C	A	A	A	259	20	CALCB	2	2
SLC1A2	6506	broad.mit.edu	37	11	35308396	35308396	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:35308396C>A	uc001mwd.2	-	c.1194G>T	c.(1192-1194)ATG>ATT	p.M398I	SLC1A2_uc001mwe.2_Missense_Mutation_p.M389I|SLC1A2_uc010rev.1_Missense_Mutation_p.M398I	NM_004171	NP_004162	P43004	EAA2_HUMAN	excitatory amino acid transporter 2	398					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			ovary(2)|central_nervous_system(1)	3	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)								0.072289	-5.229144	26.02819	12	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35308396	35308396	14928	11	C	A	A	A	273	21	SLC1A2	2	2
PAMR1	25891	broad.mit.edu	37	11	35454045	35454045	+	Silent	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:35454045C>A	uc001mwf.2	-	c.2073G>T	c.(2071-2073)CCG>CCT	p.P691P	PAMR1_uc001mwg.2_Silent_p.P674P|PAMR1_uc010rew.1_Silent_p.P563P|PAMR1_uc010rex.1_Silent_p.P634P	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	regeneration associated muscle protease isoform	674	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2														0.105263	6.968455	21.644638	10	85	KEEP	---	---	---	---	capture		Silent	SNP	35454045	35454045	11830	11	C	A	A	A	288	23	PAMR1	1	1
OR4S1	256148	broad.mit.edu	37	11	48328542	48328542	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:48328542C>A	uc010rhu.1	+	c.768C>A	c.(766-768)TAC>TAA	p.Y256*		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S,	256	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.093168	9.197553	36.004064	15	146	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	48328542	48328542	11492	11	C	A	A	A	220	17	OR4S1	5	2
OR4A16	81327	broad.mit.edu	37	11	55111202	55111202	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55111202G>T	uc010rie.1	+	c.526G>T	c.(526-528)GTC>TTC	p.V176F		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A,	176	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(2)|pancreas(1)	3														0.044776	-25.965222	18.547354	9	192	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55111202	55111202	11447	11	G	T	T	T	624	48	OR4A16	2	2
OR4C6	219432	broad.mit.edu	37	11	55433272	55433272	+	Silent	SNP	T	C	C			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55433272T>C	uc001nht.3	+	c.630T>C	c.(628-630)CTT>CTC	p.L210L	OR4C6_uc010rik.1_Silent_p.L210L	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	210	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.060241	-8.067138	25.475111	10	156	KEEP	---	---	---	---	capture		Silent	SNP	55433272	55433272	11459	11	T	C	C	C	782	61	OR4C6	4	4
OR5T3	390154	broad.mit.edu	37	11	56020000	56020000	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56020000C>A	uc010rjd.1	+	c.325C>A	c.(325-327)CCA>ACA	p.P109T		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	109	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)													0.074627	-6.911277	18.210135	10	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56020000	56020000	11593	11	C	A	A	A	390	30	OR5T3	2	2
HRASLS5	117245	broad.mit.edu	37	11	63233599	63233599	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:63233599C>T	uc001nwy.2	-	c.730G>A	c.(730-732)GTA>ATA	p.V244I	HRASLS5_uc001nwz.2_Missense_Mutation_p.V234I|HRASLS5_uc010rmq.1_Intron|HRASLS5_uc009yos.2_Non-coding_Transcript	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5 isoform 1	244										ovary(1)	1														0.073171	-2.594309	12.751698	6	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63233599	63233599	7643	11	C	T	T	T	247	19	HRASLS5	1	1
NRXN2	9379	broad.mit.edu	37	11	64434817	64434817	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:64434817T>A	uc001oar.2	-	c.1703A>T	c.(1702-1704)GAC>GTC	p.D568V	NRXN2_uc001oas.2_Missense_Mutation_p.D537V|NRXN2_uc001oaq.2_Missense_Mutation_p.D235V	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	159	Extracellular (Potential).|Laminin G-like.				cell adhesion	integral to membrane				ovary(2)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	6														0.117117	7.258904	23.256388	13	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64434817	64434817	11071	11	T	A	A	A	754	58	NRXN2	3	3
NRXN2	9379	broad.mit.edu	37	11	64434819	64434819	+	Silent	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:64434819C>A	uc001oar.2	-	c.1701G>T	c.(1699-1701)CTG>CTT	p.L567L	NRXN2_uc001oas.2_Silent_p.L536L|NRXN2_uc001oaq.2_Silent_p.L234L	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	158	Extracellular (Potential).|Laminin G-like.				cell adhesion	integral to membrane				ovary(2)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	6														0.115044	9.447818	26.172793	13	100	KEEP	---	---	---	---	capture		Silent	SNP	64434819	64434819	11071	11	C	A	A	A	262	21	NRXN2	2	2
WDR66	144406	broad.mit.edu	37	12	122361785	122361785	+	Silent	SNP	G	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:122361785G>A	uc009zxk.2	+	c.636G>A	c.(634-636)AGG>AGA	p.R212R		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	212							calcium ion binding			ovary(1)	1	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		Esophageal Squamous(85;849 1794 49757 52143)								0.04	-28.561997	11.30856	7	168	KEEP	---	---	---	---	capture		Silent	SNP	122361785	122361785	17890	12	G	A	A	A	529	41	WDR66	2	2
RIMBP2	23504	broad.mit.edu	37	12	130926460	130926460	+	Silent	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:130926460C>A	uc001uil.2	-	c.1386G>T	c.(1384-1386)CCG>CCT	p.P462P	RIMBP2_uc001uim.2_Silent_p.P370P|RIMBP2_uc001uin.1_Silent_p.P121P	NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	462	Fibronectin type-III 2.					cell junction|synapse				ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	8	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)										0.16	7.883404	10.635636	4	21	KEEP	---	---	---	---	capture		Silent	SNP	130926460	130926460	13838	12	C	A	A	A	236	19	RIMBP2	1	1
SSPN	8082	broad.mit.edu	37	12	26383940	26383940	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:26383940C>A	uc001rhe.2	+	c.663C>A	c.(661-663)TAC>TAA	p.Y221*	SSPN_uc001rhd.2_Nonsense_Mutation_p.Y118*|SSPN_uc009zjf.2_Intron|SSPN_uc001rhf.3_Intron	NM_005086	NP_005077	Q14714	SSPN_HUMAN	sarcospan isoform 1	221	Cytoplasmic (Potential).				cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle					0	Colorectal(261;0.0847)													0.079365	-1.076108	10.310141	5	58	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	26383940	26383940	15704	12	C	A	A	A	233	18	SSPN	5	2
PDZRN4	29951	broad.mit.edu	37	12	41967375	41967375	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:41967375A>G	uc010skn.1	+	c.2197A>G	c.(2197-2199)ATG>GTG	p.M733V	PDZRN4_uc001rmq.3_Missense_Mutation_p.M674V|PDZRN4_uc009zjz.2_Missense_Mutation_p.M672V|PDZRN4_uc001rmr.2_Missense_Mutation_p.M559V	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	932							ubiquitin-protein ligase activity|zinc ion binding			lung(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	8	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)								467				0.147059	35.220249	51.492235	20	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41967375	41967375	12131	12	A	G	G	G	104	8	PDZRN4	4	4
KRT73	319101	broad.mit.edu	37	12	53012018	53012018	+	Silent	SNP	C	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53012018C>T	uc001sas.2	-	c.291G>A	c.(289-291)TCG>TCA	p.S97S		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	97	Head.|Gly-rich.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)	4				BRCA - Breast invasive adenocarcinoma(357;0.189)										0.079646	-2.686708	17.583732	9	104	KEEP	---	---	---	---	capture		Silent	SNP	53012018	53012018	8801	12	C	T	T	T	236	19	KRT73	1	1
TAC3	6866	broad.mit.edu	37	12	57409555	57409555	+	Silent	SNP	G	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57409555G>A	uc001smp.2	-	c.27C>T	c.(25-27)GCC>GCT	p.A9A	TAC3_uc001smr.2_Non-coding_Transcript|TAC3_uc001smq.2_Non-coding_Transcript|TAC3_uc001smt.2_Non-coding_Transcript|TAC3_uc001sms.2_Non-coding_Transcript|TAC3_uc010sqy.1_Non-coding_Transcript|TAC3_uc001smu.2_Non-coding_Transcript|TAC3_uc001smv.2_Non-coding_Transcript|TAC3_uc001smo.2_Silent_p.A9A	NM_013251	NP_037383	Q9UHF0	TKNK_HUMAN	tachykinin 3 precursor	9					female pregnancy|neuropeptide signaling pathway|tachykinin receptor signaling pathway	extracellular space|soluble fraction	receptor binding			ovary(1)	1														0.094118	5.03365	19.105748	8	77	KEEP	---	---	---	---	capture		Silent	SNP	57409555	57409555	16020	12	G	A	A	A	600	47	TAC3	2	2
ZFC3H1	196441	broad.mit.edu	37	12	72056938	72056938	+	Silent	SNP	G	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:72056938G>A	uc001swo.2	-	c.453C>T	c.(451-453)TAC>TAT	p.Y151Y	ZFC3H1_uc010sts.1_Silent_p.Y151Y|ZFC3H1_uc001swp.2_Silent_p.Y151Y|THAP2_uc001swq.2_5'Flank	NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	151					RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)	4														0.358779	130.49484	132.792128	47	84	KEEP	---	---	---	---	capture		Silent	SNP	72056938	72056938	18221	12	G	A	A	A	568	44	ZFC3H1	2	2
BBS10	79738	broad.mit.edu	37	12	76740088	76740088	+	Silent	SNP	G	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:76740088G>A	uc001syd.1	-	c.1677C>T	c.(1675-1677)TAC>TAT	p.Y559Y		NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	559					cellular protein metabolic process|photoreceptor cell maintenance|response to stimulus|retina homeostasis|sensory cilium assembly	cilium	ATP binding			ovary(1)	1														0.073394	-1.283755	19.103649	8	101	KEEP	---	---	---	---	capture		Silent	SNP	76740088	76740088	1357	12	G	A	A	A	516	40	BBS10	1	1
ZIC2	7546	broad.mit.edu	37	13	100635355	100635355	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:100635355G>T	uc001von.2	+	c.1037G>T	c.(1036-1038)CGC>CTC	p.R346L		NM_007129	NP_009060	O95409	ZIC2_HUMAN	zinc finger protein of the cerebellum 2	346	C2H2-type 3.				brain development|positive regulation of sequence-specific DNA binding transcription factor activity|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity|zinc ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					Pancreas(97;119 1522 31925 44771 48764)								0.16	7.032126	9.745872	4	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100635355	100635355	18270	13	G	T	T	T	494	38	ZIC2	1	1
NALCN	259232	broad.mit.edu	37	13	101726976	101726976	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:101726976C>T	uc001vox.1	-	c.3992G>A	c.(3991-3993)AGC>AAC	p.S1331N		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1331	Cytoplasmic (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)													0.146067	21.215079	31.935216	13	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101726976	101726976	10544	13	C	T	T	T	364	28	NALCN	2	2
ATP12A	479	broad.mit.edu	37	13	25272964	25272964	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:25272964G>T	uc010aaa.2	+	c.1699G>T	c.(1699-1701)GGC>TGC	p.G567C	ATP12A_uc001upp.2_Missense_Mutation_p.G561C	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	561	Cytoplasmic (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	Pancreas(156;1582 1935 18898 22665 26498)								0.074468	-2.803831	14.633287	7	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25272964	25272964	1141	13	G	T	T	T	559	43	ATP12A	2	2
CENPJ	55835	broad.mit.edu	37	13	25480126	25480126	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:25480126C>G	uc001upt.3	-	c.2050G>C	c.(2050-2052)GAA>CAA	p.E684Q	CENPJ_uc010tdf.1_Non-coding_Transcript|CENPJ_uc010aae.2_Non-coding_Transcript|CENPJ_uc010aaf.2_Non-coding_Transcript|CENPJ_uc001upu.2_5'Flank	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	684					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			ovary(2)	2		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)										0.140351	16.259339	23.380225	8	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25480126	25480126	3367	13	C	G	G	G	377	29	CENPJ	3	3
C13orf30	144809	broad.mit.edu	37	13	43362849	43362849	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:43362849A>G	uc010tfk.1	+	c.343A>G	c.(343-345)AGA>GGA	p.R115G	C13orf30_uc010tfl.1_Missense_Mutation_p.R115G	NM_182508	NP_872314	Q8N7L0	CM030_HUMAN	hypothetical protein LOC144809	115											0		Lung NSC(96;0.000369)|Prostate(109;0.0305)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.000512)|OV - Ovarian serous cystadenocarcinoma(117;0.000563)|BRCA - Breast invasive adenocarcinoma(63;0.0677)										0.142857	12.990613	19.01458	7	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43362849	43362849	1772	13	A	G	G	G	36	3	C13orf30	4	4
PCDH20	64881	broad.mit.edu	37	13	61987324	61987324	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:61987324C>A	uc001vid.3	-	c.908G>T	c.(907-909)AGT>ATT	p.S303I	PCDH20_uc010thj.1_Missense_Mutation_p.S303I	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	276	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)										0.102564	8.048088	20.319121	8	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61987324	61987324	11935	13	C	A	A	A	260	20	PCDH20	2	2
DIO3	1735	broad.mit.edu	37	14	102027994	102027994	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:102027994G>A	uc010txq.1	+	c.83G>A	c.(82-84)GGC>GAC	p.G28D	DIO3OS_uc001ykd.1_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	28	Helical; Signal-anchor for type II membrane protein; (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|oxidation-reduction process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			ovary(1)|central_nervous_system(1)	2		all_neural(303;0.185)												0.081081	-0.205367	6.412584	3	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102027994	102027994	4705	14	G	A	A	A	546	42	DIO3	2	2
OR4Q3	441669	broad.mit.edu	37	14	20216282	20216282	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20216282G>T	uc010tkt.1	+	c.696G>T	c.(694-696)CAG>CAT	p.Q232H		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q,	232	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)										0.118182	12.087773	27.858974	13	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20216282	20216282	11491	14	G	T	T	T	451	35	OR4Q3	2	2
OR4L1	122742	broad.mit.edu	37	14	20528810	20528810	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20528810A>T	uc001vwn.1	+	c.607A>T	c.(607-609)AGC>TGC	p.S203C		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L,	203	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)										0.125874	26.767182	46.294881	18	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20528810	20528810	11484	14	A	T	T	T	91	7	OR4L1	3	3
NYNRIN	57523	broad.mit.edu	37	14	24878354	24878354	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24878354A>G	uc001wpf.3	+	c.1354A>G	c.(1354-1356)ATT>GTT	p.I452V		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	452					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3										473				0.076923	0.6061	7.74028	3	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24878354	24878354	11201	14	A	G	G	G	156	12	NYNRIN	4	4
BMP4	652	broad.mit.edu	37	14	54416809	54416809	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:54416809C>A	uc001xal.3	-	c.1168G>T	c.(1168-1170)GAT>TAT	p.D390Y	BMP4_uc010aoh.2_Missense_Mutation_p.D390Y|BMP4_uc001xao.3_Missense_Mutation_p.D390Y|BMP4_uc001xan.3_Missense_Mutation_p.D390Y	NM_130851	NP_570912	P12644	BMP4_HUMAN	bone morphogenetic protein 4 preproprotein	390					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity|transcription activator activity|transcription repressor activity				0										68				0.1	8.174183	33.764409	16	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54416809	54416809	1487	14	C	A	A	A	377	29	BMP4	2	2
DLGAP5	9787	broad.mit.edu	37	14	55643890	55643890	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:55643890C>A	uc001xbs.2	-	c.939G>T	c.(937-939)ATG>ATT	p.M313I	DLGAP5_uc001xbt.2_Missense_Mutation_p.M313I	NM_014750	NP_055565	Q15398	DLGP5_HUMAN	discs large homolog 7 isoform a	313					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			ovary(1)	1														0.069767	-1.447704	6.713322	3	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55643890	55643890	4743	14	C	A	A	A	221	17	DLGAP5	2	2
ZFYVE26	23503	broad.mit.edu	37	14	68222808	68222808	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:68222808C>A	uc001xka.2	-	c.6643G>T	c.(6643-6645)GGG>TGG	p.G2215W	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkb.2_Missense_Mutation_p.G61W	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2215					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	phosphatidylinositol-3-phosphate binding|protein binding|zinc ion binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)										0.041344	-110.923293	64.234526	32	742	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68222808	68222808	18258	14	C	A	A	A	273	21	ZFYVE26	2	2
SLC8A3	6547	broad.mit.edu	37	14	70518747	70518747	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:70518747G>C	uc001xly.2	-	c.1991C>G	c.(1990-1992)CCC>CGC	p.P664R	SLC8A3_uc001xlu.2_Missense_Mutation_p.P21R|SLC8A3_uc001xlv.2_Missense_Mutation_p.P35R|SLC8A3_uc001xlw.2_Missense_Mutation_p.P661R|SLC8A3_uc001xlx.2_Missense_Mutation_p.P662R|SLC8A3_uc001xlz.2_Missense_Mutation_p.P658R|SLC8A3_uc010ara.2_Non-coding_Transcript|SLC8A3_uc001xma.2_Missense_Mutation_p.P21R	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	664	Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			ovary(2)|breast(2)	4				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)										0.072289	-1.68317	13.92706	6	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70518747	70518747	15205	14	G	C	C	C	559	43	SLC8A3	3	3
ACOT1	641371	broad.mit.edu	37	14	74004293	74004293	+	Silent	SNP	C	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:74004293C>T	uc001xol.1	+	c.168C>T	c.(166-168)ACC>ACT	p.T56T	HEATR4_uc010tua.1_Intron|ACOT1_uc010tuc.1_Silent_p.T56T	NM_001037161	NP_001032238	Q86TX2	ACOT1_HUMAN	acyl-CoA thioesterase 1	56					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	cytosol	carboxylesterase activity|palmitoyl-CoA hydrolase activity				0				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)										0.073171	-0.506889	7.17231	3	38	KEEP	---	---	---	---	capture		Silent	SNP	74004293	74004293	149	14	C	T	T	T	275	22	ACOT1	2	2
ESRRB	2103	broad.mit.edu	37	14	76906060	76906060	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:76906060G>T	uc001xsr.2	+	c.364G>T	c.(364-366)GCT>TCT	p.A122S	ESRRB_uc001xso.2_Non-coding_Transcript|ESRRB_uc001xsq.1_Missense_Mutation_p.A122S	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	122					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0213)										0.076923	-1.542409	7.989235	4	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76906060	76906060	5454	14	G	T	T	T	546	42	ESRRB	2	2
SLC24A4	123041	broad.mit.edu	37	14	92909097	92909097	+	Silent	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:92909097C>A	uc001yak.2	+	c.468C>A	c.(466-468)ATC>ATA	p.I156I	SLC24A4_uc001yai.2_Silent_p.I109I|SLC24A4_uc010twm.1_Silent_p.I173I|SLC24A4_uc001yaj.2_Silent_p.I156I|SLC24A4_uc010auj.2_Silent_p.I64I|SLC24A4_uc010twn.1_5'Flank	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	solute carrier family 24 member 4 isoform 1	156	Alpha-1.|Helical; (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(2)|ovary(1)	3		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		NSCLC(10;315 435 10383 28450 38798)								0.051546	-11.340617	9.248612	5	92	KEEP	---	---	---	---	capture		Silent	SNP	92909097	92909097	14965	14	C	A	A	A	395	31	SLC24A4	1	1
GJD2	57369	broad.mit.edu	37	15	35045114	35045114	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:35045114G>T	uc001zis.1	-	c.531C>A	c.(529-531)CAC>CAA	p.H177Q		NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	177	Cytoplasmic (Potential).				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)										0.067797	-5.598565	17.221476	8	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35045114	35045114	6685	15	G	T	T	T	568	44	GJD2	2	2
LYSMD2	256586	broad.mit.edu	37	15	52017211	52017211	+	Silent	SNP	T	C	C			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:52017211T>C	uc002abi.2	-	c.381A>G	c.(379-381)GGA>GGG	p.G127G	LYSMD2_uc002abj.2_Silent_p.G36G	NM_153374	NP_699205	Q8IV50	LYSM2_HUMAN	LysM, putative peptidoglycan-binding, domain	127					cell wall macromolecule catabolic process						0				all cancers(107;0.00258)										0.051282	-9.62347	15.289108	6	111	KEEP	---	---	---	---	capture		Silent	SNP	52017211	52017211	9502	15	T	C	C	C	743	58	LYSMD2	4	4
FAM92B	339145	broad.mit.edu	37	16	85144051	85144051	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:85144051C>A	uc010vok.1	-	c.36G>T	c.(34-36)AGG>AGT	p.R12S		NM_198491	NP_940893	Q6ZTR7	FA92B_HUMAN	hypothetical protein LOC339145	12										central_nervous_system(1)	1														0.130435	3.431035	6.46987	3	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85144051	85144051	5889	16	C	A	A	A	285	22	FAM92B	2	2
MYH1	4619	broad.mit.edu	37	17	10399401	10399401	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10399401C>A	uc002gmo.2	-	c.5035G>T	c.(5035-5037)GAG>TAG	p.E1679*		NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1679	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				0.192308	25.552453	32.492521	15	63	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	10399401	10399401	10424	17	C	A	A	A	390	30	MYH1	5	2
RAI1	10743	broad.mit.edu	37	17	17698662	17698662	+	Silent	SNP	G	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:17698662G>T	uc002grm.2	+	c.2400G>T	c.(2398-2400)GGG>GGT	p.G800G	RAI1_uc002grn.1_Silent_p.G800G	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	800						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(1115;0.0276)										0.166667	7.883921	10.413056	4	20	KEEP	---	---	---	---	capture		Silent	SNP	17698662	17698662	13467	17	G	T	T	T	548	43	RAI1	2	2
KRT9	3857	broad.mit.edu	37	17	39727998	39727998	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39727998C>A	uc002hxe.3	-	c.247G>T	c.(247-249)GCC>TCC	p.A83S	JUP_uc010wfs.1_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	keratin 9	83	Head.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Breast(137;0.000307)												0.130435	3.910941	6.965377	3	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39727998	39727998	8816	17	C	A	A	A	325	25	KRT9	2	2
CNP	1267	broad.mit.edu	37	17	40125779	40125779	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40125779G>T	uc002hyl.1	+	c.1103G>T	c.(1102-1104)AGC>ATC	p.S368I	CNP_uc010wfz.1_Missense_Mutation_p.S245I|CNP_uc002hym.1_Missense_Mutation_p.S348I|CNP_uc010wga.1_Missense_Mutation_p.S133I|CNP_uc002hyn.1_Missense_Mutation_p.S133I	NM_033133	NP_149124	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	368					cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding				0		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)										0.088235	0.943968	6.731405	3	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40125779	40125779	3764	17	G	T	T	T	442	34	CNP	2	2
CACNA1G	8913	broad.mit.edu	37	17	48650200	48650200	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:48650200G>T	uc002irk.1	+	c.1032G>T	c.(1030-1032)TGG>TGT	p.W344C	CACNA1G_uc002iri.1_Missense_Mutation_p.W344C|CACNA1G_uc002irj.1_Missense_Mutation_p.W344C|CACNA1G_uc002irl.1_Missense_Mutation_p.W344C|CACNA1G_uc002irm.1_Missense_Mutation_p.W344C|CACNA1G_uc002irn.1_Missense_Mutation_p.W344C|CACNA1G_uc002iro.1_Missense_Mutation_p.W344C|CACNA1G_uc002irp.1_Missense_Mutation_p.W344C|CACNA1G_uc002irq.1_Missense_Mutation_p.W344C|CACNA1G_uc002irr.1_Missense_Mutation_p.W344C|CACNA1G_uc002irs.1_Missense_Mutation_p.W344C|CACNA1G_uc002irt.1_Missense_Mutation_p.W344C|CACNA1G_uc002irv.1_Missense_Mutation_p.W344C|CACNA1G_uc002irw.1_Missense_Mutation_p.W344C|CACNA1G_uc002iru.1_Missense_Mutation_p.W344C|CACNA1G_uc002irx.1_Missense_Mutation_p.W257C|CACNA1G_uc002iry.1_Missense_Mutation_p.W257C|CACNA1G_uc002irz.1_Missense_Mutation_p.W257C|CACNA1G_uc002isa.1_Missense_Mutation_p.W257C|CACNA1G_uc002isb.1_Missense_Mutation_p.W257C|CACNA1G_uc002isc.1_Missense_Mutation_p.W257C|CACNA1G_uc002isd.1_Missense_Mutation_p.W257C|CACNA1G_uc002ise.1_Missense_Mutation_p.W257C|CACNA1G_uc002isf.1_Missense_Mutation_p.W257C|CACNA1G_uc002isg.1_Missense_Mutation_p.W257C|CACNA1G_uc002ish.1_Missense_Mutation_p.W257C|CACNA1G_uc002isi.1_Missense_Mutation_p.W257C	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	344	Extracellular (Potential).|I.				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)									0.117647	5.731529	13.049786	6	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48650200	48650200	2660	17	G	T	T	T	533	41	CACNA1G	2	2
TP53	7157	broad.mit.edu	37	17	7577570	7577570	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7577570C>G	uc002gim.2	-	c.711G>C	c.(709-711)ATG>ATC	p.M237I	TP53_uc002gig.1_Missense_Mutation_p.M237I|TP53_uc002gih.2_Missense_Mutation_p.M237I|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.M105I|TP53_uc010cng.1_Missense_Mutation_p.M105I|TP53_uc002gii.1_Missense_Mutation_p.M105I|TP53_uc010cnh.1_Missense_Mutation_p.M237I|TP53_uc010cni.1_Missense_Mutation_p.M237I|TP53_uc002gij.2_Missense_Mutation_p.M237I|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.M144I|TP53_uc002gio.2_Missense_Mutation_p.M105I	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	237	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		M -> L (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (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.M237I(92)|p.0?(6)|p.Y236_M237delYM(1)|p.M237_N239delMCN(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(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.M237I(NCIH1869-Tumor)|p.M237I(CALU3-Tumor)|p.M237I(LC1F-Tumor)|p.M237I(T98G-Tumor)|p.M237I(LC1SQSF-Tumor)|p.M237I(PK1-Tumor)|p.M237I(TE8-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.142857	32.052153	44.959391	15	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7577570	7577570	16923	17	C	G	G	G	221	17	TP53	3	3
GNAL	2774	broad.mit.edu	37	18	11752922	11752922	+	Silent	SNP	C	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:11752922C>T	uc002kqc.2	+	c.447C>T	c.(445-447)CCC>CCT	p.P149P	GNAL_uc010dkz.2_Silent_p.P72P|GNAL_uc002kqd.2_Silent_p.P72P	NM_182978	NP_892023	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein),	72					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1														0.102564	3.17277	9.310815	4	35	KEEP	---	---	---	---	capture		Silent	SNP	11752922	11752922	6776	18	C	T	T	T	288	23	GNAL	1	1
SOCS6	9306	broad.mit.edu	37	18	67992312	67992312	+	Silent	SNP	G	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:67992312G>T	uc002lkr.1	+	c.408G>T	c.(406-408)CCG>CCT	p.P136P	SOCS6_uc010dqq.2_Silent_p.P136P	NM_004232	NP_004223	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	136					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				large_intestine(1)	1		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				Melanoma(84;1024 1361 24382 36583 42651)								0.088235	1.653127	7.431541	3	31	KEEP	---	---	---	---	capture		Silent	SNP	67992312	67992312	15418	18	G	T	T	T	509	40	SOCS6	1	1
TSHZ1	10194	broad.mit.edu	37	18	72998360	72998360	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:72998360A>T	uc002lly.2	+	c.863A>T	c.(862-864)CAG>CTG	p.Q288L		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	333					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)										0.079545	-1.547167	14.347023	7	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72998360	72998360	17174	18	A	T	T	T	91	7	TSHZ1	3	3
C19orf57	79173	broad.mit.edu	37	19	14015675	14015675	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:14015675C>A	uc002mxl.1	-	c.31G>T	c.(31-33)GGA>TGA	p.G11*	CC2D1A_uc002mxn.2_5'Flank|CC2D1A_uc002mxo.2_5'Flank|CC2D1A_uc002mxp.2_5'Flank|C19orf57_uc002mxm.1_Nonsense_Mutation_p.G11*	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	hypothetical protein LOC79173	11					multicellular organismal development		protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(19;2e-21)											0.09434	-0.76826	8.330575	5	48	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	14015675	14015675	2003	19	C	A	A	A	312	24	C19orf57	5	2
GRAMD1A	57655	broad.mit.edu	37	19	35501038	35501038	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:35501038G>A	uc010xsf.1	+	c.383G>A	c.(382-384)CGC>CAC	p.R128H	GRAMD1A_uc002nxi.1_Missense_Mutation_p.R210H|GRAMD1A_uc010xse.1_Missense_Mutation_p.R123H|GRAMD1A_uc002nxk.2_Missense_Mutation_p.R116H|GRAMD1A_uc002nxl.2_5'UTR	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A isoform 1	123	GRAM.					integral to membrane					0	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)											0.076471	-4.819267	26.410285	13	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35501038	35501038	7023	19	G	A	A	A	494	38	GRAMD1A	1	1
MYADM	91663	broad.mit.edu	37	19	54377404	54377404	+	Silent	SNP	G	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54377404G>T	uc002qcl.2	+	c.621G>T	c.(619-621)GTG>GTT	p.V207V	MYADM_uc002qcm.2_Silent_p.V207V|MYADM_uc002qcn.2_Silent_p.V207V|MYADM_uc002qco.2_Silent_p.V207V|MYADM_uc002qcp.2_Silent_p.V207V	NM_001020820	NP_001018656	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	207	MARVEL 2.|Helical; (Potential).					integral to membrane				ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)										0.057018	-21.425753	25.635992	13	215	KEEP	---	---	---	---	capture		Silent	SNP	54377404	54377404	10400	19	G	T	T	T	600	47	MYADM	2	2
ZNRF4	148066	broad.mit.edu	37	19	5455970	5455970	+	Silent	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:5455970C>A	uc002mca.3	+	c.468C>A	c.(466-468)GGC>GGA	p.G156G		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4 precursor	156	Extracellular (Potential).|PA.					integral to membrane	zinc ion binding			large_intestine(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)										0.111111	2.412077	6.44651	3	24	KEEP	---	---	---	---	capture		Silent	SNP	5455970	5455970	18818	19	C	A	A	A	340	27	ZNRF4	1	1
LILRA4	23547	broad.mit.edu	37	19	54848136	54848136	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54848136C>T	uc002qfj.2	-	c.1231G>A	c.(1231-1233)GAG>AAG	p.E411K	LILRA4_uc002qfi.2_Missense_Mutation_p.E345K	NM_012276	NP_036408	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor subfamily	411	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane	receptor activity			central_nervous_system(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)										0.083333	-0.842193	7.639104	4	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54848136	54848136	9113	19	C	T	T	T	377	29	LILRA4	2	2
ZNF552	79818	broad.mit.edu	37	19	58319635	58319635	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58319635A>G	uc002qqg.2	-	c.997T>C	c.(997-999)TTT>CTT	p.F333L	ZNF587_uc002qqb.2_Intron|ZNF552_uc010yhg.1_Missense_Mutation_p.F329L	NM_024762	NP_079038	Q9H707	ZN552_HUMAN	zinc finger protein 552	333	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)										0.092105	6.371938	19.097292	7	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58319635	58319635	18579	19	A	G	G	G	52	4	ZNF552	4	4
MUC16	94025	broad.mit.edu	37	19	9003351	9003351	+	Silent	SNP	A	G	G			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9003351A>G	uc002mkp.2	-	c.40084T>C	c.(40084-40086)TTG>CTG	p.L13362L	MUC16_uc010dwi.2_Non-coding_Transcript|MUC16_uc010dwj.2_Silent_p.L179L|MUC16_uc010xki.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13364	Extracellular (Potential).|SEA 9.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.078125	1.649688	24.939893	10	118	KEEP	---	---	---	---	capture		Silent	SNP	9003351	9003351	10367	19	A	G	G	G	37	3	MUC16	4	4
COL11A1	1301	broad.mit.edu	37	1	103400033	103400033	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:103400033G>T	uc001dum.2	-	c.3608C>A	c.(3607-3609)CCT>CAT	p.P1203H	COL11A1_uc001duk.2_Missense_Mutation_p.P387H|COL11A1_uc001dul.2_Missense_Mutation_p.P1191H|COL11A1_uc001dun.2_Missense_Mutation_p.P1152H|COL11A1_uc009weh.2_Missense_Mutation_p.P1075H	NM_080629	NP_542196	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform B	1191	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|central_nervous_system(1)|pancreas(1)	11		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)										0.098765	5.442029	18.482281	8	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103400033	103400033	3805	1	G	T	T	T	455	35	COL11A1	2	2
PGD	5226	broad.mit.edu	37	1	10477108	10477108	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:10477108G>C	uc001arc.2	+	c.909G>C	c.(907-909)AAG>AAC	p.K303N	PGD_uc001ard.2_Missense_Mutation_p.K223N|PGD_uc010oak.1_Missense_Mutation_p.K281N|PGD_uc010oal.1_Missense_Mutation_p.K290N	NM_002631	NP_002622	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	303					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			ovary(1)	1	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)										0.157895	30.769981	41.368515	15	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10477108	10477108	12210	1	G	C	C	C	438	34	PGD	3	3
AADACL4	343066	broad.mit.edu	37	1	12726397	12726397	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:12726397A>T	uc001auf.2	+	c.875A>T	c.(874-876)AAG>ATG	p.K292M		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	292	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)										0.108108	8.246364	19.513617	8	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12726397	12726397	14	1	A	T	T	T	39	3	AADACL4	3	3
SSU72	29101	broad.mit.edu	37	1	1479315	1479315	+	Silent	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:1479315C>A	uc001agd.2	-	c.417G>T	c.(415-417)GTG>GTT	p.V139V	SSU72_uc009vkg.1_Silent_p.V139V	NM_014188	NP_054907	Q9NP77	SSU72_HUMAN	Ssu72 RNA polymerase II CTD phosphatase homolog	139					mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity				0	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)						170				0.157895	5.716439	7.833751	3	16	KEEP	---	---	---	---	capture		Silent	SNP	1479315	1479315	15718	1	C	A	A	A	262	21	SSU72	2	2
FLG2	388698	broad.mit.edu	37	1	152327663	152327663	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152327663G>C	uc001ezw.3	-	c.2599C>G	c.(2599-2601)CAG>GAG	p.Q867E		NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	867	Ser-rich.						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)											0.032738	-54.889714	25.131744	11	325	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152327663	152327663	6161	1	G	C	C	C	624	48	FLG2	3	3
NPR1	4881	broad.mit.edu	37	1	153659682	153659682	+	Silent	SNP	C	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:153659682C>T	uc001fcs.3	+	c.1942C>T	c.(1942-1944)CTG>TTG	p.L648L	NPR1_uc010pdz.1_Silent_p.L394L|NPR1_uc010pea.1_Silent_p.L126L	NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1 precursor	648	Cytoplasmic (Potential).|Protein kinase.				diuresis|intracellular signal transduction|natriuresis|negative regulation of angiogenesis|negative regulation of cell growth|protein phosphorylation|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	integral to plasma membrane	ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			ovary(3)|lung(2)|breast(1)	6	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	Pancreas(141;1349 1870 15144 15830 40702)				382				0.157895	28.359086	38.964808	15	80	KEEP	---	---	---	---	capture		Silent	SNP	153659682	153659682	10999	1	C	T	T	T	363	28	NPR1	2	2
FCRL3	115352	broad.mit.edu	37	1	157666025	157666025	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157666025G>A	uc001fqz.3	-	c.937C>T	c.(937-939)CAG>TAG	p.Q313*	FCRL3_uc001fqx.3_Non-coding_Transcript|FCRL3_uc001fqy.3_Non-coding_Transcript|FCRL3_uc009wsn.2_Non-coding_Transcript|FCRL3_uc009wso.2_Non-coding_Transcript|FCRL3_uc001fra.2_Nonsense_Mutation_p.Q39*|FCRL3_uc001frb.2_Nonsense_Mutation_p.Q313*|FCRL3_uc001frc.1_Nonsense_Mutation_p.Q313*	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	313	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)													0.136905	35.803901	57.250901	23	145	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	157666025	157666025	6033	1	G	A	A	A	611	47	FCRL3	5	2
SPTA1	6708	broad.mit.edu	37	1	158583600	158583601	+	Missense_Mutation	DNP	CA	TG	TG			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158583600_158583601CA>TG	uc001fst.1	-	c.6899_6900TG>CA	c.(6898-6900)CTG>CCA	p.L2300P		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2300	EF-hand 1.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|breast(1)	5	all_hematologic(112;0.0378)													0.075472	-0.143377	9.651821	4	49	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	158583600	158583601	15630	1	CA	TG	TG	TG	366	29	SPTA1	2	2
MNDA	4332	broad.mit.edu	37	1	158815774	158815774	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158815774G>T	uc001fsz.1	+	c.968G>T	c.(967-969)GGG>GTG	p.G323V		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	323	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(2)	2	all_hematologic(112;0.0378)													0.104167	9.675309	24.644443	10	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158815774	158815774	10067	1	G	T	T	T	559	43	MNDA	2	2
PYHIN1	149628	broad.mit.edu	37	1	158912098	158912098	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158912098T>G	uc001ftb.2	+	c.911T>G	c.(910-912)ATC>AGC	p.I304S	PYHIN1_uc001ftc.2_Missense_Mutation_p.I295S|PYHIN1_uc001ftd.2_Missense_Mutation_p.I304S|PYHIN1_uc001fte.2_Missense_Mutation_p.I295S	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1 alpha 1	304	HIN-200.				cell cycle	nuclear speck				ovary(3)|pancreas(1)	4	all_hematologic(112;0.0378)													0.111111	5.579052	10.956464	4	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158912098	158912098	13323	1	T	G	G	G	650	50	PYHIN1	4	4
APCS	325	broad.mit.edu	37	1	159558117	159558117	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159558117C>G	uc001ftv.2	+	c.291C>G	c.(289-291)CAC>CAG	p.H97Q		NM_001639	NP_001630	P02743	SAMP_HUMAN	serum amyloid P component precursor	97	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			ovary(1)|breast(1)	2	all_hematologic(112;0.0429)													0.092437	11.534882	31.426339	11	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159558117	159558117	777	1	C	G	G	G	220	17	APCS	3	3
RCSD1	92241	broad.mit.edu	37	1	167666491	167666491	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:167666491G>T	uc001gem.2	+	c.630G>T	c.(628-630)AAG>AAT	p.K210N	RCSD1_uc010pli.1_Missense_Mutation_p.K180N	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	210										ovary(2)|central_nervous_system(2)|skin(1)	5	all_hematologic(923;0.215)													0.08871	2.769907	23.933883	11	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167666491	167666491	13654	1	G	T	T	T	425	33	RCSD1	2	2
PAPPA2	60676	broad.mit.edu	37	1	176525752	176525752	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176525752C>A	uc001gkz.2	+	c.294C>A	c.(292-294)GAC>GAA	p.D98E	PAPPA2_uc001gky.1_Missense_Mutation_p.D98E|PAPPA2_uc009www.2_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	98					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|lung(1)|breast(1)	14														0.096085	38.224754	130.174215	54	508	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176525752	176525752	11850	1	C	A	A	A	220	17	PAPPA2	2	2
ASTN1	460	broad.mit.edu	37	1	176983941	176983941	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176983941C>A	uc001glc.2	-	c.1509G>T	c.(1507-1509)TGG>TGT	p.W503C	ASTN1_uc001glb.1_Missense_Mutation_p.W503C|ASTN1_uc001gld.1_Missense_Mutation_p.W503C|ASTN1_uc009wwx.1_Missense_Mutation_p.W503C|ASTN1_uc001gle.3_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	511					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	11										849				0.048309	-106.194802	73.509105	40	788	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176983941	176983941	1083	1	C	A	A	A	286	22	ASTN1	2	2
ASTN1	460	broad.mit.edu	37	1	177001736	177001736	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:177001736C>T	uc001glc.2	-	c.721G>A	c.(721-723)GGC>AGC	p.G241S	ASTN1_uc001glb.1_Missense_Mutation_p.G241S|ASTN1_uc001gld.1_Missense_Mutation_p.G241S|ASTN1_uc009wwx.1_Missense_Mutation_p.G241S|ASTN1_uc001gle.3_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	241					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	11										849				0.077586	0.197273	21.355854	9	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	177001736	177001736	1083	1	C	T	T	T	299	23	ASTN1	1	1
KIF21B	23046	broad.mit.edu	37	1	200960257	200960257	+	Silent	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:200960257C>A	uc001gvs.1	-	c.2475G>T	c.(2473-2475)CTG>CTT	p.L825L	KIF21B_uc001gvr.1_Silent_p.L825L|KIF21B_uc009wzl.1_Silent_p.L825L|KIF21B_uc010ppn.1_Silent_p.L825L	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	825					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3														0.133333	5.579308	9.494201	4	26	KEEP	---	---	---	---	capture		Silent	SNP	200960257	200960257	8600	1	C	A	A	A	262	21	KIF21B	2	2
NFASC	23114	broad.mit.edu	37	1	204939793	204939793	+	Silent	SNP	C	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:204939793C>T	uc001hbj.2	+	c.1053C>T	c.(1051-1053)GGC>GGT	p.G351G	NFASC_uc001hbh.2_Silent_p.G351G|NFASC_uc010pqz.1_Silent_p.G345G|NFASC_uc010pra.1_Silent_p.G362G|NFASC_uc001hbi.2_Silent_p.G362G|NFASC_uc009xbg.1_Silent_p.G435G|NFASC_uc010prb.1_Silent_p.G362G|NFASC_uc010prc.1_5'UTR|NFASC_uc001hbk.1_Silent_p.G172G	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	351	Extracellular (Potential).|Ig-like C2-type 4.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)	4	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)											0.142857	5.949778	10.255677	5	30	KEEP	---	---	---	---	capture		Silent	SNP	204939793	204939793	10759	1	C	T	T	T	340	27	NFASC	1	1
LEMD1	93273	broad.mit.edu	37	1	205389589	205389589	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:205389589T>C	uc001hci.1	-	c.76A>G	c.(76-78)ATA>GTA	p.I26V	LEMD1_uc001hcj.1_Missense_Mutation_p.I26V|LEMD1_uc001hck.1_Non-coding_Transcript|LEMD1_uc001hcl.1_Missense_Mutation_p.I26V|LEMD1_uc001hcm.1_Non-coding_Transcript|LEMD1_uc001hcn.1_Non-coding_Transcript	NM_001001552	NP_001001552	Q68G75	LEMD1_HUMAN	LEM domain containing 1	26	LEM.					integral to membrane|nuclear envelope					0	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)							107				0.12	14.616331	25.259699	9	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	205389589	205389589	9043	1	T	C	C	C	676	52	LEMD1	4	4
TRAF3IP3	80342	broad.mit.edu	37	1	209955490	209955490	+	Silent	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:209955490C>A	uc001hho.2	+	c.1653C>A	c.(1651-1653)ATC>ATA	p.I551I	TRAF3IP3_uc001hhn.2_Silent_p.I531I|TRAF3IP3_uc009xcr.2_Silent_p.I551I	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	TRAF3-interacting JNK-activating modulator	551	Extracellular (Potential).					integral to membrane	protein binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.045)										0.075	-4.228425	18.032178	9	111	KEEP	---	---	---	---	capture		Silent	SNP	209955490	209955490	16986	1	C	A	A	A	408	32	TRAF3IP3	2	2
SLC30A10	55532	broad.mit.edu	37	1	220101687	220101687	+	Silent	SNP	G	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:220101687G>T	uc001hlw.2	-	c.96C>A	c.(94-96)GGC>GGA	p.G32G	SLC30A10_uc001hlu.1_Intron|SLC30A10_uc001hlx.2_5'UTR	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN	solute carrier family 30 (zinc transporter),	32	Extracellular (Potential).				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		Colon(76;360 1614 43677 51136)								0.16	6.987808	9.737143	4	21	KEEP	---	---	---	---	capture		Silent	SNP	220101687	220101687	15051	1	G	T	T	T	587	46	SLC30A10	2	2
TRIM17	51127	broad.mit.edu	37	1	228596269	228596269	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:228596269C>T	uc001hsu.2	-	c.1067G>A	c.(1066-1068)GGC>GAC	p.G356D	TRIM11_uc001hss.2_5'Flank|TRIM11_uc010pvx.1_5'Flank|TRIM11_uc001hst.1_5'Flank|TRIM17_uc001hsv.2_Missense_Mutation_p.G356D|TRIM17_uc001hsw.2_Missense_Mutation_p.G329D	NM_016102	NP_057186	Q9Y577	TRI17_HUMAN	tripartite motif-containing 17 isoform 1	356	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Prostate(94;0.0724)												0.083333	0.810701	7.1498	3	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	228596269	228596269	17037	1	C	T	T	T	338	26	TRIM17	2	2
RYR2	6262	broad.mit.edu	37	1	237774219	237774219	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237774219G>T	uc001hyl.1	+	c.4841G>T	c.(4840-4842)CGC>CTC	p.R1614L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1614	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.12	3.007141	6.549894	3	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237774219	237774219	14249	1	G	T	T	T	494	38	RYR2	1	1
ZNF669	79862	broad.mit.edu	37	1	247263803	247263803	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247263803C>A	uc001ice.2	-	c.1268G>T	c.(1267-1269)TGC>TTC	p.C423F	ZNF669_uc001icf.2_Missense_Mutation_p.C337F	NM_024804	NP_079080	Q96BR6	ZN669_HUMAN	zinc finger protein 669 isoform 1	423	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)											0.0875	0.485028	14.247826	7	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247263803	247263803	18671	1	C	A	A	A	325	25	ZNF669	2	2
OR2G2	81470	broad.mit.edu	37	1	247752435	247752435	+	Silent	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247752435C>A	uc010pyy.1	+	c.774C>A	c.(772-774)ATC>ATA	p.I258I		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	258	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)											0.109195	14.991261	41.322804	19	155	KEEP	---	---	---	---	capture		Silent	SNP	247752435	247752435	11404	1	C	A	A	A	369	29	OR2G2	2	2
OR2L3	391192	broad.mit.edu	37	1	248224651	248224651	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248224651C>A	uc001idx.1	+	c.668C>A	c.(667-669)GCT>GAT	p.A223D	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	223	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)											0.118421	19.30777	41.176228	18	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248224651	248224651	11414	1	C	A	A	A	364	28	OR2L3	2	2
OR2M2	391194	broad.mit.edu	37	1	248343878	248343878	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248343878G>T	uc010pzf.1	+	c.591G>T	c.(589-591)GAG>GAT	p.E197D		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M,	197	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)											0.146597	96.034344	141.899739	56	326	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248343878	248343878	11416	1	G	T	T	T	451	35	OR2M2	2	2
OR2T4	127074	broad.mit.edu	37	1	248524934	248524934	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248524934C>A	uc001ieh.1	+	c.52C>A	c.(52-54)CTG>ATG	p.L18M		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	18	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.1	3.231393	12.81949	6	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248524934	248524934	11433	1	C	A	A	A	311	24	OR2T4	2	2
OR14I1	401994	broad.mit.edu	37	1	248845405	248845405	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248845405C>A	uc001ieu.1	-	c.201G>T	c.(199-201)TTG>TTT	p.L67F		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I,	67	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.066667	-2.746734	11.813797	5	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248845405	248845405	11353	1	C	A	A	A	272	21	OR14I1	2	2
CSMD2	114784	broad.mit.edu	37	1	34037204	34037204	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:34037204T>C	uc001bxm.1	-	c.7885A>G	c.(7885-7887)ACT>GCT	p.T2629A	CSMD2_uc001bxn.1_Missense_Mutation_p.T2631A	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2631	Sushi 16.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(5)|pancreas(1)	6		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)												0.053333	-5.145955	10.628976	4	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34037204	34037204	4086	1	T	C	C	C	741	57	CSMD2	4	4
FAF1	11124	broad.mit.edu	37	1	51050411	51050411	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:51050411C>G	uc009vyx.1	-	c.913G>C	c.(913-915)GAT>CAT	p.D305H	FAF1_uc009vyw.1_Intron|FAF1_uc001cse.1_Missense_Mutation_p.D305H|FAF1_uc010onc.1_Missense_Mutation_p.D63H	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	FAS-associated factor 1	305					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)										0.064103	-2.99013	12.42631	5	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51050411	51050411	5566	1	C	G	G	G	390	30	FAF1	3	3
EFCAB7	84455	broad.mit.edu	37	1	63991278	63991278	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:63991278C>A	uc001dbf.2	+	c.35C>A	c.(34-36)TCC>TAC	p.S12Y	ITGB3BP_uc001dba.1_5'Flank|ITGB3BP_uc001dbb.1_5'Flank|ITGB3BP_uc001dbc.1_5'Flank|ITGB3BP_uc001dbd.1_5'Flank|ITGB3BP_uc009wak.1_5'Flank	NM_032437	NP_115813	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	12							calcium ion binding				0														0.076923	-0.408256	6.740253	3	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63991278	63991278	5127	1	C	A	A	A	390	30	EFCAB7	2	2
NCOA6	23054	broad.mit.edu	37	20	33330836	33330836	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:33330836C>A	uc002xav.2	-	c.3224G>T	c.(3223-3225)AGT>ATT	p.S1075I	NCOA6_uc002xaw.2_Missense_Mutation_p.S1075I	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1075	NCOA1-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding|transcription activator activity			ovary(3)|breast(3)|central_nervous_system(1)	7														0.069767	-4.47142	20.156276	9	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33330836	33330836	10632	20	C	A	A	A	260	20	NCOA6	2	2
SAMHD1	25939	broad.mit.edu	37	20	35563504	35563504	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:35563504T>A	uc002xgh.1	-	c.437A>T	c.(436-438)TAC>TTC	p.Y146F		NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	SAM domain- and HD domain-containing protein 1	146					defense response to virus|innate immune response|regulation of innate immune response	nucleus	hydrolase activity				0		Myeloproliferative disorder(115;0.00878)												0.15625	18.219065	25.429967	10	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35563504	35563504	14308	20	T	A	A	A	741	57	SAMHD1	3	3
CDH4	1002	broad.mit.edu	37	20	60503480	60503480	+	Silent	SNP	C	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:60503480C>T	uc002ybn.1	+	c.2004C>T	c.(2002-2004)AAC>AAT	p.N668N	CDH4_uc002ybp.1_Silent_p.N594N	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	668	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)	5			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)											0.142857	4.311615	6.893643	3	18	KEEP	---	---	---	---	capture		Silent	SNP	60503480	60503480	3241	20	C	T	T	T	246	19	CDH4	1	1
KRTAP10-11	386678	broad.mit.edu	37	21	46067104	46067104	+	Silent	SNP	C	A	A	rs75548048	by1000genomes	TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:46067104C>A	uc002zfr.3	+	c.729C>A	c.(727-729)CCC>CCA	p.P243P	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198692	NP_941965	P60412	KR10B_HUMAN	keratin associated protein 10-11	243	25 X 5 AA repeats of C-C-X(3).					keratin filament				ovary(1)	1														0.141732	27.549291	43.362326	18	109	KEEP	---	---	---	---	capture		Silent	SNP	46067104	46067104	8822	21	C	A	A	A	288	23	KRTAP10-11	1	1
CPT1B	1375	broad.mit.edu	37	22	51014749	51014749	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:51014749G>A	uc003bmk.3	-	c.577C>T	c.(577-579)CGC>TGC	p.R193C	CPT1B_uc003bml.2_Missense_Mutation_p.R193C|CPT1B_uc003bmm.2_Missense_Mutation_p.R193C|CPT1B_uc003bmo.2_Missense_Mutation_p.R193C|CPT1B_uc011asa.1_Missense_Mutation_p.R159C|CPT1B_uc003bmn.2_Missense_Mutation_p.R193C|CPT1B_uc011asb.1_Missense_Mutation_p.R193C|CHKB-CPT1B_uc003bmp.2_5'UTR	NM_001145137	NP_001138609	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B isoform a	193	Cytoplasmic (Potential).				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)	2		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		Esophageal Squamous(170;988 1933 25577 30295 48163)						OREG0026685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.136364	4.91277	7.727218	3	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51014749	51014749	3971	22	G	A	A	A	494	38	CPT1B	1	1
WDR33	55339	broad.mit.edu	37	2	128476971	128476971	+	Silent	SNP	G	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:128476971G>A	uc002tpg.1	-	c.2628C>T	c.(2626-2628)GGC>GGT	p.G876G		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	876					postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)										0.051546	-12.445668	8.157081	5	92	KEEP	---	---	---	---	capture		Silent	SNP	128476971	128476971	17860	2	G	A	A	A	587	46	WDR33	2	2
KCNJ3	3760	broad.mit.edu	37	2	155566147	155566147	+	Silent	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:155566147C>A	uc002tyv.1	+	c.735C>A	c.(733-735)CCC>CCA	p.P245P	KCNJ3_uc010zce.1_Intron	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	245	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			pancreas(1)	1					Halothane(DB01159)									0.123077	7.492334	16.503611	8	57	KEEP	---	---	---	---	capture		Silent	SNP	155566147	155566147	8357	2	C	A	A	A	275	22	KCNJ3	2	2
IFIH1	64135	broad.mit.edu	37	2	163133379	163133379	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:163133379T>C	uc002uce.2	-	c.2122A>G	c.(2122-2124)ATA>GTA	p.I708V		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	708	Helicase C-terminal.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|regulation of apoptosis|response to virus	cytosol|nucleus	ATP binding|DNA binding|helicase activity|protein binding|ribonucleoprotein binding|RNA binding|zinc ion binding			ovary(1)	1														0.063291	-8.379511	22.990788	10	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	163133379	163133379	7821	2	T	C	C	C	663	51	IFIH1	4	4
APOB	338	broad.mit.edu	37	2	21239330	21239330	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21239330C>A	uc002red.2	-	c.3313G>T	c.(3313-3315)GCC>TCC	p.A1105S		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1105					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus|very-low-density lipoprotein particle assembly	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|central_nervous_system(3)|large_intestine(2)|pancreas(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)									0.065217	-5.516237	12.550694	6	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21239330	21239330	796	2	C	A	A	A	351	27	APOB	1	1
CCDC108	255101	broad.mit.edu	37	2	219903754	219903754	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219903754C>G	uc002vjl.1	-	c.17G>C	c.(16-18)GGT>GCT	p.G6A	CCDC108_uc010zkp.1_Intron|CCDC108_uc010zkq.1_Intron|CCDC108_uc002vjn.2_Intron	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	6						integral to membrane	structural molecule activity			ovary(2)|pancreas(1)	3		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.064935	-1.966673	13.152065	5	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	219903754	219903754	2863	2	C	G	G	G	234	18	CCDC108	3	3
GALNT14	79623	broad.mit.edu	37	2	31168704	31168704	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:31168704A>T	uc002rns.2	-	c.702T>A	c.(700-702)GAT>GAA	p.D234E	GALNT14_uc002rnq.2_Missense_Mutation_p.D209E|GALNT14_uc002rnr.2_Missense_Mutation_p.D229E|GALNT14_uc010ymr.1_Missense_Mutation_p.D194E|GALNT14_uc010ezo.1_Missense_Mutation_p.D196E|GALNT14_uc010ezp.1_Intron	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN	N-acetylgalactosaminyltransferase 14	229	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	Acute lymphoblastic leukemia(172;0.155)													0.06	-8.405786	11.819357	6	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31168704	31168704	6476	2	A	T	T	T	206	16	GALNT14	3	3
ABCG8	64241	broad.mit.edu	37	2	44079539	44079539	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:44079539C>A	uc002rtq.2	+	c.608C>A	c.(607-609)ACC>AAC	p.T203N	ABCG8_uc010yoa.1_Missense_Mutation_p.T203N	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	ATP-binding cassette sub-family G member 8	203	ABC transporter.|Cytoplasmic (Potential).				cholesterol efflux|cholesterol homeostasis|excretion|intestinal cholesterol absorption|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)												0.071429	-1.62119	11.571399	5	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44079539	44079539	73	2	C	A	A	A	234	18	ABCG8	2	2
SMYD1	150572	broad.mit.edu	37	2	88405918	88405918	+	Silent	SNP	G	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:88405918G>T	uc002ssr.2	+	c.1056G>T	c.(1054-1056)CGG>CGT	p.R352R	SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_Silent_p.R48R	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3														0.053191	-9.796433	10.00974	5	89	KEEP	---	---	---	---	capture		Silent	SNP	88405918	88405918	15321	2	G	T	T	T	522	41	SMYD1	2	2
SLC6A11	6538	broad.mit.edu	37	3	10861183	10861183	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:10861183T>C	uc003bvz.2	+	c.290T>C	c.(289-291)ATT>ACT	p.I97T	SLC6A11_uc003bvy.1_Missense_Mutation_p.I97T	NM_014229	NP_055044	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter	97	Helical; Name=2; (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(96;0.229)										0.08	8.246397	44.227346	16	184	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10861183	10861183	15171	3	T	C	C	C	676	52	SLC6A11	4	4
SEMA5B	54437	broad.mit.edu	37	3	122646700	122646700	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:122646700A>G	uc003efz.1	-	c.787T>C	c.(787-789)TAC>CAC	p.Y263H	SEMA5B_uc011bju.1_Missense_Mutation_p.Y205H|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.Y263H|SEMA5B_uc010hro.1_Missense_Mutation_p.Y205H|SEMA5B_uc010hrp.1_Non-coding_Transcript	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	263	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)						383				0.066667	-3.248819	8.431908	4	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122646700	122646700	14524	3	A	G	G	G	195	15	SEMA5B	4	4
TMEM43	79188	broad.mit.edu	37	3	14174425	14174425	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:14174425A>G	uc003byk.2	+	c.502A>G	c.(502-504)AAA>GAA	p.K168E	TMEM43_uc003byl.1_Missense_Mutation_p.K48E	NM_024334	NP_077310	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	168	Lumenal (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane				ovary(1)	1														0.113636	7.042321	13.52145	5	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14174425	14174425	16706	3	A	G	G	G	65	5	TMEM43	4	4
ZIC4	84107	broad.mit.edu	37	3	147114209	147114209	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:147114209G>T	uc011bno.1	-	c.268C>A	c.(268-270)CCC>ACC	p.P90T	ZIC4_uc003ewc.1_5'UTR|ZIC4_uc003ewd.1_Missense_Mutation_p.P40T	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	40						nucleus	DNA binding|zinc ion binding				0														0.118421	4.930207	15.933063	9	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147114209	147114209	18272	3	G	T	T	T	559	43	ZIC4	2	2
ZIC1	7545	broad.mit.edu	37	3	147128649	147128649	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:147128649C>A	uc003ewe.2	+	c.750C>A	c.(748-750)CAC>CAA	p.H250Q		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	250	C2H2-type 1; atypical.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|regulation of smoothened signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2														0.098039	5.536179	13.782511	5	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147128649	147128649	18269	3	C	A	A	A	246	19	ZIC1	1	1
COMMD2	51122	broad.mit.edu	37	3	149468638	149468639	+	Splice_Site_DNP	DNP	TC	CA	CA			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:149468638_149468639TC>CA	uc003exk.2	-	c.229_splice	c.e4-1	p.I77_splice		NM_016094	NP_057178			COMM domain containing 2								protein binding				0			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)											0.092105	8.271468	20.996133	7	69	KEEP	---	---	---	---	capture		Splice_Site_DNP	DNP	149468638	149468639	3854	3	TC	CA	CA	CA	650	50	COMMD2	5	4
ANO10	55129	broad.mit.edu	37	3	43641905	43641905	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:43641905C>T	uc003cmv.2	-	c.308G>A	c.(307-309)AGA>AAA	p.R103K	ANO10_uc011azs.1_Missense_Mutation_p.R103K|ANO10_uc003cmw.2_Intron|ANO10_uc010hil.2_Missense_Mutation_p.R103K|ANO10_uc011azt.1_Intron	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN	transmembrane protein 16K	103	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)	2														0.07243	-8.335857	72.20784	31	397	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43641905	43641905	704	3	C	T	T	T	416	32	ANO10	2	2
ZNF502	91392	broad.mit.edu	37	3	44762440	44762440	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:44762440G>T	uc011baa.1	+	c.131G>T	c.(130-132)AGG>ATG	p.R44M	ZNF502_uc003cns.2_Missense_Mutation_p.R44M|ZNF502_uc011bab.1_Missense_Mutation_p.R44M|ZNF502_uc003cnt.2_Missense_Mutation_p.R44M	NM_001134440	NP_001127912	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)										0.075472	-1.143133	8.653876	4	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44762440	44762440	18544	3	G	T	T	T	455	35	ZNF502	2	2
CAMP	820	broad.mit.edu	37	3	48266121	48266121	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48266121C>A	uc003csj.1	+	c.338C>A	c.(337-339)ACC>AAC	p.T113N		NM_004345	NP_004336	P49913	CAMP_HUMAN	cathelicidin antimicrobial peptide	113					killing by host of symbiont cells|negative regulation of growth of symbiont on or near host surface	extracellular region					0				BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)										0.080808	1.572223	19.257549	8	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48266121	48266121	2727	3	C	A	A	A	234	18	CAMP	2	2
SHQ1	55164	broad.mit.edu	37	3	72799500	72799500	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:72799500C>A	uc003dpf.2	-	c.1669G>T	c.(1669-1671)GGC>TGC	p.G557C	SHQ1_uc010hod.2_Missense_Mutation_p.G468C	NM_018130	NP_060600	Q6PI26	SHQ1_HUMAN	SHQ1 homolog	557					ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			ovary(2)|large_intestine(1)	3		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)										0.133333	13.026006	24.805187	12	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72799500	72799500	14787	3	C	A	A	A	286	22	SHQ1	2	2
NPY2R	4887	broad.mit.edu	37	4	156135901	156135901	+	Silent	SNP	G	C	C			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:156135901G>C	uc003ioq.2	+	c.810G>C	c.(808-810)CTG>CTC	p.L270L	NPY2R_uc003ior.2_Silent_p.L270L	NM_000910	NP_000901	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	270	Helical; Name=6; (Potential).				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)												0.115385	7.100276	14.708522	6	46	KEEP	---	---	---	---	capture		Silent	SNP	156135901	156135901	11014	4	G	C	C	C	600	47	NPY2R	3	3
GUCY1B3	2983	broad.mit.edu	37	4	156721098	156721098	+	Silent	SNP	G	T	T	rs17854507	byFrequency;by1000genomes	TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:156721098G>T	uc011cio.1	+	c.1113G>T	c.(1111-1113)ACG>ACT	p.T371T	GUCY1B3_uc003ipc.2_Silent_p.T349T|GUCY1B3_uc011cip.1_Silent_p.T329T|GUCY1B3_uc003ipd.2_Silent_p.T277T|GUCY1B3_uc010iqf.2_Silent_p.T349T|GUCY1B3_uc010iqg.2_Silent_p.T277T|GUCY1B3_uc011ciq.1_Silent_p.T277T	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	349					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)										0.134615	10.596428	17.323488	7	45	KEEP	---	---	---	---	capture		Silent	SNP	156721098	156721098	7175	4	G	T	T	T	483	38	GUCY1B3	1	1
GPR125	166647	broad.mit.edu	37	4	22394315	22394315	+	Splice_Site_SNP	SNP	T	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:22394315T>A	uc003gqm.1	-	c.2482_splice	c.e17-1	p.V828_splice	GPR125_uc010ieo.1_Splice_Site_SNP_p.V684_splice|GPR125_uc003gql.1_5'UTR	NM_145290	NP_660333			G protein-coupled receptor 125 precursor						neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity				0		Breast(46;0.198)												0.103448	5.610811	14.688268	6	52	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	22394315	22394315	6913	4	T	A	A	A	689	53	GPR125	5	3
HERC6	55008	broad.mit.edu	37	4	89326124	89326124	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:89326124A>G	uc011cdi.1	+	c.1189A>G	c.(1189-1191)AGT>GGT	p.S397G	HERC6_uc011cdj.1_Missense_Mutation_p.S397G|HERC6_uc011cdk.1_Intron|HERC6_uc011cdl.1_Intron	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	hect domain and RLD 6 isoform 1	397					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			lung(1)|kidney(1)	2		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)										0.04878	-8.165814	9.571878	4	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89326124	89326124	7345	4	A	G	G	G	39	3	HERC6	4	4
KCNN2	3781	broad.mit.edu	37	5	113740549	113740549	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:113740549G>A	uc003kqo.2	+	c.997G>A	c.(997-999)GAA>AAA	p.E333K		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	333						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)										0.047859	-47.725296	38.666738	19	378	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113740549	113740549	8384	5	G	A	A	A	585	45	KCNN2	2	2
AQPEP	206338	broad.mit.edu	37	5	115335601	115335601	+	Splice_Site_SNP	SNP	T	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:115335601T>A	uc003kro.2	+	c.1515_splice	c.e7+2	p.K505_splice	AQPEP_uc003krp.2_Splice_Site_SNP|AQPEP_uc003krq.2_Splice_Site_SNP|AQPEP_uc003krr.2_Splice_Site_SNP|AQPEP_uc003krs.2_Splice_Site_SNP	NM_173800	NP_776161			laeverin						proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0														0.047619	-9.768316	8.529034	4	80	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	115335601	115335601	845	5	T	A	A	A	741	57	AQPEP	5	3
FBN2	2201	broad.mit.edu	37	5	127624828	127624828	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:127624828G>A	uc003kuu.2	-	c.6628C>T	c.(6628-6630)CGC>TGC	p.R2210C		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2210	EGF-like 36; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|kidney(1)|pancreas(1)	14		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)						1552				0.072917	-1.149926	16.857427	7	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127624828	127624828	5939	5	G	A	A	A	520	40	FBN2	1	1
TGFBI	7045	broad.mit.edu	37	5	135383035	135383035	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:135383035G>A	uc003lbf.3	+	c.697G>A	c.(697-699)GAT>AAT	p.D233N	TGFBI_uc003lbg.3_5'UTR|TGFBI_uc003lbh.3_Missense_Mutation_p.D59N|TGFBI_uc011cyb.1_Missense_Mutation_p.D59N|TGFBI_uc010jed.2_5'Flank	NM_000358	NP_000349	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	233	FAS1 1.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(3)|ovary(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)											0.099138	17.484186	54.732259	23	209	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135383035	135383035	16348	5	G	A	A	A	481	37	TGFBI	1	1
SMAD5	4090	broad.mit.edu	37	5	135510103	135510103	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:135510103G>T	uc003lbj.1	+	c.1036G>T	c.(1036-1038)GAA>TAA	p.E346*	SMAD5_uc003lbk.1_Nonsense_Mutation_p.E346*|SMAD5_uc003lbl.1_Nonsense_Mutation_p.E346*	NM_001001419	NP_001001419	Q99717	SMAD5_HUMAN	SMAD family member 5	346	MH2.				BMP signaling pathway|embryonic pattern specification|regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|transcription factor complex	sequence-specific DNA binding transcription factor activity|transcription activator activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)											0.111111	5.376271	14.804229	7	56	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	135510103	135510103	15259	5	G	T	T	T	533	41	SMAD5	5	2
DNAH5	1767	broad.mit.edu	37	5	13727729	13727729	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:13727729C>A	uc003jfd.2	-	c.11920G>T	c.(11920-11922)GAT>TAT	p.D3974Y	DNAH5_uc003jfc.2_Missense_Mutation_p.D142Y	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3974					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)													0.111111	4.938974	11.671467	5	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13727729	13727729	4787	5	C	A	A	A	377	29	DNAH5	2	2
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139917753	139917753	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:139917753A>C	uc003lfs.1	+	c.7311A>C	c.(7309-7311)CAA>CAC	p.Q2437H	ANKHD1_uc003lfr.2_Missense_Mutation_p.Q2437H|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.Q1193H|ANKHD1_uc003lfw.2_Missense_Mutation_p.Q1092H|ANKHD1_uc010jfl.2_Missense_Mutation_p.Q813H|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.Q591H	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	2437						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.047393	-24.023048	22.012835	10	201	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139917753	139917753	632	5	A	C	C	C	24	2	ANKHD1-EIF4EBP3	4	4
PCDHA3	56145	broad.mit.edu	37	5	140181958	140181958	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140181958C>G	uc003lhf.2	+	c.1176C>G	c.(1174-1176)CAC>CAG	p.H392Q	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.H392Q	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	392	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(5)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.09589	7.38336	19.327532	7	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140181958	140181958	11945	5	C	G	G	G	246	19	PCDHA3	3	3
PCDHA7	56141	broad.mit.edu	37	5	140215067	140215067	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140215067A>G	uc003lhq.2	+	c.1099A>G	c.(1099-1101)ACC>GCC	p.T367A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.T367A	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	367	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			NSCLC(160;258 2013 5070 22440 28951)								0.075758	-0.642088	11.511601	5	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140215067	140215067	11949	5	A	G	G	G	182	14	PCDHA7	4	4
PCDHB3	56132	broad.mit.edu	37	5	140481287	140481287	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140481287G>C	uc003lio.2	+	c.1054G>C	c.(1054-1056)GTA>CTA	p.V352L		NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	352	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.130435	12.115908	18.227884	6	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140481287	140481287	11963	5	G	C	C	C	468	36	PCDHB3	3	3
PCDHB12	56124	broad.mit.edu	37	5	140589053	140589053	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140589053C>A	uc003liz.2	+	c.574C>A	c.(574-576)CCT>ACT	p.P192T	PCDHB12_uc011dak.1_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	192	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.138889	3.67415	8.39494	5	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140589053	140589053	11957	5	C	A	A	A	286	22	PCDHB12	2	2
DIAPH1	1729	broad.mit.edu	37	5	140953389	140953389	+	Silent	SNP	G	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140953389G>T	uc003llb.3	-	c.2028C>A	c.(2026-2028)CCC>CCA	p.P676P	DIAPH1_uc003llc.3_Silent_p.P667P|DIAPH1_uc010jgc.1_Silent_p.P115P	NM_005219	NP_005210	O60610	DIAP1_HUMAN	diaphanous 1 isoform 1	676	FH1.				sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.142857	4.910513	7.492034	3	18	KEEP	---	---	---	---	capture		Silent	SNP	140953389	140953389	4697	5	G	T	T	T	548	43	DIAPH1	2	2
FBXL7	23194	broad.mit.edu	37	5	15937147	15937147	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:15937147G>T	uc003jfn.1	+	c.1328G>T	c.(1327-1329)GGC>GTC	p.G443V		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	443	LRR 11.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3														0.088235	0.82957	6.629999	3	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15937147	15937147	5961	5	G	T	T	T	546	42	FBXL7	2	2
MYO10	4651	broad.mit.edu	37	5	16681451	16681451	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:16681451C>A	uc003jft.3	-	c.4351G>T	c.(4351-4353)GTC>TTC	p.V1451F	MYO10_uc011cnb.1_Missense_Mutation_p.V80F|MYO10_uc011cnc.1_Missense_Mutation_p.V330F|MYO10_uc011cnd.1_Missense_Mutation_p.V808F|MYO10_uc011cne.1_Missense_Mutation_p.V808F|MYO10_uc010itx.2_Missense_Mutation_p.V1073F	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1451	PH 2.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3														0.152542	19.339514	26.152507	9	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16681451	16681451	10457	5	C	A	A	A	247	19	MYO10	1	1
SLC45A2	51151	broad.mit.edu	37	5	33944770	33944770	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33944770C>A	uc003jid.2	-	c.1576G>T	c.(1576-1578)GTT>TTT	p.V526F		NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	membrane-associated transporter protein isoform	526	Cytoplasmic (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)								0.136364	10.124086	15.754353	6	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33944770	33944770	15138	5	C	A	A	A	221	17	SLC45A2	2	2
MTRR	4552	broad.mit.edu	37	5	7900157	7900157	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:7900157G>A	uc003jed.2	+	c.2164G>A	c.(2164-2166)GAT>AAT	p.D722N	MTRR_uc003jee.3_Missense_Mutation_p.D695N|MTRR_uc003jef.3_Non-coding_Transcript|MTRR_uc003jeg.3_Non-coding_Transcript|MTRR_uc010ito.2_Non-coding_Transcript	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	methionine synthase reductase isoform 2	722					methionine biosynthetic process|oxidation-reduction process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			ovary(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)									0.315789	150.374999	155.544517	54	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7900157	7900157	10354	5	G	A	A	A	533	41	MTRR	2	2
C6orf170	221322	broad.mit.edu	37	6	121624901	121624901	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:121624901C>A	uc003pyo.1	-	c.942G>T	c.(940-942)ATG>ATT	p.M314I	C6orf170_uc003pyq.1_Non-coding_Transcript	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322	314					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)										0.102564	3.568519	9.709166	4	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121624901	121624901	2449	6	C	A	A	A	273	21	C6orf170	2	2
ALDH8A1	64577	broad.mit.edu	37	6	135271127	135271127	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:135271127C>A	uc003qew.2	-	c.65G>T	c.(64-66)AGC>ATC	p.S22I	ALDH8A1_uc003qex.2_Missense_Mutation_p.S22I|ALDH8A1_uc010kgh.2_5'UTR|ALDH8A1_uc011ecx.1_Missense_Mutation_p.S22I	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8A1 isoform 1	22					oxidation-reduction process|retinal metabolic process	cytoplasm	retinal dehydrogenase activity			ovary(2)|pancreas(1)	3	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)										0.115385	10.982925	26.255306	12	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135271127	135271127	508	6	C	A	A	A	364	28	ALDH8A1	2	2
NMBR	4829	broad.mit.edu	37	6	142397138	142397138	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:142397138A>G	uc003qiu.2	-	c.820T>C	c.(820-822)TGT>CGT	p.C274R		NM_002511	NP_002502	P28336	NMBR_HUMAN	neuromedin B receptor	274	Helical; Name=6; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			central_nervous_system(3)	3	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)										0.048387	-14.657236	12.238642	6	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142397138	142397138	10890	6	A	G	G	G	91	7	NMBR	4	4
NMBR	4829	broad.mit.edu	37	6	142399949	142399949	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:142399949C>A	uc003qiu.2	-	c.514G>T	c.(514-516)GTG>TTG	p.V172L		NM_002511	NP_002502	P28336	NMBR_HUMAN	neuromedin B receptor	172	Helical; Name=4; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			central_nervous_system(3)	3	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)										0.056818	-5.994847	12.152521	5	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142399949	142399949	10890	6	C	A	A	A	247	19	NMBR	1	1
TAB2	23118	broad.mit.edu	37	6	149700156	149700156	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:149700156A>G	uc003qmj.2	+	c.1105A>G	c.(1105-1107)ATA>GTA	p.I369V	TAB2_uc011eec.1_Missense_Mutation_p.I337V|TAB2_uc010kia.1_Missense_Mutation_p.I369V|TAB2_uc010kib.1_Missense_Mutation_p.I369V|TAB2_uc003qmk.3_Non-coding_Transcript	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	mitogen-activated protein kinase kinase kinase 7	369					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|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	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding				0										127				0.101449	2.160052	13.146491	7	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149700156	149700156	16017	6	A	G	G	G	104	8	TAB2	4	4
SYNE1	23345	broad.mit.edu	37	6	152722379	152722379	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:152722379T>C	uc010kiw.2	-	c.6923A>G	c.(6922-6924)CAA>CGA	p.Q2308R	SYNE1_uc003qot.3_Missense_Mutation_p.Q2315R|SYNE1_uc003qou.3_Missense_Mutation_p.Q2308R|SYNE1_uc010kjb.1_Missense_Mutation_p.Q2291R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2308	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|ovary(8)|large_intestine(5)|pancreas(2)	30		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)										0.085714	2.697747	14.874197	6	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152722379	152722379	15966	6	T	C	C	C	819	63	SYNE1	4	4
TDRD6	221400	broad.mit.edu	37	6	46661143	46661143	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:46661143A>T	uc003oyj.2	+	c.5278A>T	c.(5278-5280)ATT>TTT	p.I1760F	TDRD6_uc010jze.2_Missense_Mutation_p.I1754F	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1760					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)	5			Lung(136;0.192)											0.08642	2.760503	16.796396	7	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46661143	46661143	16261	6	A	T	T	T	104	8	TDRD6	3	3
PKHD1	5314	broad.mit.edu	37	6	51875202	51875202	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:51875202T>C	uc003pah.1	-	c.5656A>G	c.(5656-5658)ATG>GTG	p.M1886V	PKHD1_uc003pai.2_Missense_Mutation_p.M1886V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1886	Extracellular (Potential).				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				0.085271	2.225206	24.741274	11	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51875202	51875202	12396	6	T	C	C	C	663	51	PKHD1	4	4
PRSS35	167681	broad.mit.edu	37	6	84233303	84233303	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:84233303C>T	uc003pjz.2	+	c.143C>T	c.(142-144)CCC>CTC	p.P48L	PRSS35_uc010kbm.2_Missense_Mutation_p.P48L	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	protease, serine, 35 precursor	48					proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)										0.063636	-6.62827	15.136978	7	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84233303	84233303	13074	6	C	T	T	T	286	22	PRSS35	2	2
PRSS35	167681	broad.mit.edu	37	6	84233710	84233710	+	Silent	SNP	C	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:84233710C>T	uc003pjz.2	+	c.550C>T	c.(550-552)CTA>TTA	p.L184L	PRSS35_uc010kbm.2_Silent_p.L184L	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	protease, serine, 35 precursor	184	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)										0.139785	20.808739	32.467109	13	80	KEEP	---	---	---	---	capture		Silent	SNP	84233710	84233710	13074	6	C	T	T	T	363	28	PRSS35	2	2
LAMB1	3912	broad.mit.edu	37	7	107626734	107626734	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107626734G>T	uc003vev.2	-	c.570C>A	c.(568-570)TTC>TTA	p.F190L	LAMB1_uc003vew.2_Missense_Mutation_p.F166L|LAMB1_uc003vex.2_Missense_Mutation_p.F166L|LAMB1_uc010ljn.1_Missense_Mutation_p.F252L	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	166	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)	4					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.125	8.08372	15.79143	7	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107626734	107626734	8933	7	G	T	T	T	477	37	LAMB1	1	1
CPA5	93979	broad.mit.edu	37	7	130002835	130002835	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:130002835G>T	uc010lmd.1	+	c.747G>T	c.(745-747)ATG>ATT	p.M249I	CPA5_uc003vps.2_Missense_Mutation_p.M249I|CPA5_uc003vpt.2_Missense_Mutation_p.M249I|CPA5_uc010lme.1_Missense_Mutation_p.M249I|CPA5_uc003vpu.1_Missense_Mutation_p.M249I	NM_001127441	NP_001120913	Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5 isoform 1	249					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2	Melanoma(18;0.0435)													0.157895	5.912766	8.033003	3	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130002835	130002835	3931	7	G	T	T	T	611	47	CPA5	2	2
GALNT11	63917	broad.mit.edu	37	7	151814453	151814453	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:151814453G>T	uc010lqg.1	+	c.1445G>T	c.(1444-1446)CGT>CTT	p.R482L	GALNT11_uc011kvm.1_Missense_Mutation_p.R401L|GALNT11_uc003wku.2_Missense_Mutation_p.R482L|GALNT11_uc003wkw.1_Missense_Mutation_p.R230L	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	N-acetylgalactosaminyltransferase 11	482	Lumenal (Potential).|Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)										0.076087	-1.356574	15.62243	7	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151814453	151814453	6473	7	G	T	T	T	520	40	GALNT11	1	1
DNAH11	8701	broad.mit.edu	37	7	21901488	21901489	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:21901488_21901489CC>AA	uc003svc.2	+	c.11241_11242CC>AA	c.(11239-11244)TTCCAC>TTAAAC	p.3747_3748FH>LN		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3747_3748					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														0.05	-9.170656	8.016802	4	76	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	21901488	21901489	4781	7	CC	AA	AA	AA	389	30	DNAH11	2	2
WBSCR17	64409	broad.mit.edu	37	7	70880970	70880970	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:70880970G>T	uc003tvy.2	+	c.685G>T	c.(685-687)GCT>TCT	p.A229S	WBSCR17_uc003tvz.2_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	229	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)												0.075949	-1.607002	12.952088	6	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70880970	70880970	17836	7	G	T	T	T	494	38	WBSCR17	1	1
POM121C	100101267	broad.mit.edu	37	7	75070315	75070315	+	Silent	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:75070315C>A	uc003udk.3	-	c.144G>T	c.(142-144)CTG>CTT	p.L48L	POM121C_uc003udl.1_Non-coding_Transcript|POM121C_uc010lde.1_Silent_p.L290L	NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	POM121 membrane glycoprotein (rat)-like	290	Required for targeting to the nucleus and nuclear pore complex.|Pore side (Potential).				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding				0														0.040816	-14.462221	7.758336	4	94	KEEP	---	---	---	---	capture		Silent	SNP	75070315	75070315	12668	7	C	A	A	A	366	29	POM121C	2	2
PILRA	29992	broad.mit.edu	37	7	99987613	99987613	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:99987613G>T	uc003uuo.1	+	c.557G>T	c.(556-558)CGC>CTC	p.R186L	PILRA_uc011kjo.1_Intron|PILRA_uc003uup.1_Intron|PILRA_uc003uuq.1_Intron	NM_013439	NP_038467	Q9UKJ1	PILRA_HUMAN	paired immunoglobulin-like type 2 receptor alpha	186	Extracellular (Potential).				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)													0.087719	5.442707	24.968521	10	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99987613	99987613	12349	7	G	T	T	T	494	38	PILRA	1	1
FBXO43	286151	broad.mit.edu	37	8	101154315	101154315	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:101154315A>T	uc003yjd.2	-	c.167T>A	c.(166-168)ATT>AAT	p.I56N	FBXO43_uc003yje.2_Missense_Mutation_p.I22N|FBXO43_uc010mbp.1_Missense_Mutation_p.I56N	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	F-box protein 43 isoform b	56					meiosis		zinc ion binding			kidney(1)|skin(1)	2	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)							303				0.08642	0.158924	14.207317	7	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101154315	101154315	5989	8	A	T	T	T	52	4	FBXO43	3	3
RP1L1	94137	broad.mit.edu	37	8	10465305	10465305	+	Silent	SNP	T	C	C			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10465305T>C	uc003wtc.2	-	c.6303A>G	c.(6301-6303)GTA>GTG	p.V2101V		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2101					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)										0.079327	15.820009	90.905816	33	383	KEEP	---	---	---	---	capture		Silent	SNP	10465305	10465305	14012	8	T	C	C	C	678	53	RP1L1	4	4
XKR6	286046	broad.mit.edu	37	8	10782281	10782281	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10782281C>A	uc003wtk.1	-	c.824G>T	c.(823-825)CGC>CTC	p.R275L		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	275						integral to membrane				ovary(1)	1				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)										0.052632	-6.657942	9.405924	4	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10782281	10782281	18016	8	C	A	A	A	351	27	XKR6	1	1
COL14A1	7373	broad.mit.edu	37	8	121237374	121237374	+	Silent	SNP	T	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:121237374T>A	uc003yox.2	+	c.1785T>A	c.(1783-1785)CCT>CCA	p.P595P	COL14A1_uc003yoy.2_Silent_p.P273P	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	595	Fibronectin type-III 4.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)							1131				0.106918	13.266817	37.648065	17	142	KEEP	---	---	---	---	capture		Silent	SNP	121237374	121237374	3809	8	T	A	A	A	691	54	COL14A1	3	3
TG	7038	broad.mit.edu	37	8	133894758	133894758	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:133894758G>T	uc003ytw.2	+	c.790G>T	c.(790-792)GGC>TGC	p.G264C		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	264	Thyroglobulin type-1 3.				hormone biosynthetic process|regulation of synaptic transmission|signal transduction		carboxylesterase activity|hormone activity			ovary(8)|breast(4)|pancreas(1)	13	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)						1778				0.064356	-11.669176	28.172088	13	189	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133894758	133894758	16341	8	G	T	T	T	611	47	TG	2	2
BAI1	575	broad.mit.edu	37	8	143623464	143623464	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:143623464G>T	uc003ywm.2	+	c.3869G>T	c.(3868-3870)GGC>GTC	p.G1290V		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1290	Cytoplasmic (Potential).				axonogenesis|cell adhesion|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)									829				0.16	5.683092	8.437395	4	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143623464	143623464	1319	8	G	T	T	T	546	42	BAI1	2	2
EFHA2	286097	broad.mit.edu	37	8	16884850	16884850	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:16884850A>C	uc003wxd.2	+	c.62A>C	c.(61-63)CAC>CCC	p.H21P		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	EF-hand domain family, member A2	21						integral to membrane	calcium ion binding				0				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		Pancreas(177;1461 2846 10523 14242)|Colon(184;2703 2719 18484 23400)								0.307692	6.370351	6.814964	4	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16884850	16884850	5132	8	A	C	C	C	78	6	EFHA2	4	4
NEFL	4747	broad.mit.edu	37	8	24811811	24811811	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:24811811G>C	uc003xee.2	-	c.1053C>G	c.(1051-1053)ATC>ATG	p.I351M		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	351	Rod.|Coil 2B.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)										0.075269	2.14865	19.355453	7	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24811811	24811811	10714	8	G	C	C	C	577	45	NEFL	3	3
C8orf41	80185	broad.mit.edu	37	8	33369617	33369617	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:33369617G>A	uc003xjl.3	-	c.515C>T	c.(514-516)GCT>GTT	p.A172V	C8orf41_uc003xjk.3_Missense_Mutation_p.A172V|C8orf41_uc010lvv.2_Missense_Mutation_p.A172V|C8orf41_uc003xjm.3_Missense_Mutation_p.A172V|C8orf41_uc003xjn.1_Missense_Mutation_p.A172V	NM_025115	NP_079391	Q6NXR4	CH041_HUMAN	hypothetical protein LOC80185	172							binding				0				KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)										0.301136	140.500643	146.72121	53	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33369617	33369617	2537	8	G	A	A	A	442	34	C8orf41	2	2
ZFHX4	79776	broad.mit.edu	37	8	77767199	77767199	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77767199G>A	uc003yav.2	+	c.7907G>A	c.(7906-7908)CGA>CAA	p.R2636Q	ZFHX4_uc003yau.1_Missense_Mutation_p.R2681Q|ZFHX4_uc003yaw.1_Missense_Mutation_p.R2636Q	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2636	C2H2-type 17.				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)											0.075949	-2.364665	12.155247	6	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77767199	77767199	18223	8	G	A	A	A	481	37	ZFHX4	1	1
COL15A1	1306	broad.mit.edu	37	9	101797643	101797643	+	Silent	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:101797643C>A	uc004azb.1	+	c.2232C>A	c.(2230-2232)GGC>GGA	p.G744G		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	744	Nonhelical region 3 (NC3).				angiogenesis|cell adhesion|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding|extracellular matrix structural constituent			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)												0.088235	0.501028	12.174636	6	62	KEEP	---	---	---	---	capture		Silent	SNP	101797643	101797643	3810	9	C	A	A	A	353	28	COL15A1	2	2
RNF20	56254	broad.mit.edu	37	9	104314692	104314692	+	Silent	SNP	C	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:104314692C>T	uc004bbn.2	+	c.1558C>T	c.(1558-1560)CTG>TTG	p.L520L		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	ring finger protein 20	520	Potential.				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|regulation of gene-specific transcription|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)	7		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)										0.068729	-7.760754	48.123321	20	271	KEEP	---	---	---	---	capture		Silent	SNP	104314692	104314692	13951	9	C	T	T	T	311	24	RNF20	2	2
QSOX2	169714	broad.mit.edu	37	9	139100623	139100623	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:139100623C>A	uc010nbi.2	-	c.2048G>T	c.(2047-2049)CGG>CTG	p.R683L		NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2 precursor	683					cell redox homeostasis|oxidation-reduction process	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			ovary(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)										0.1	2.670749	9.064388	4	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139100623	139100623	13342	9	C	A	A	A	299	23	QSOX2	1	1
IFNA10	3446	broad.mit.edu	37	9	21206670	21206670	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:21206670C>G	uc003zoq.1	-	c.427G>C	c.(427-429)GTG>CTG	p.V143L	IFNA14_uc003zoo.1_Intron	NM_002171	NP_002162	P01566	IFN10_HUMAN	interferon, alpha 10 precursor	143					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding				0				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)										0.062706	-11.535771	48.842004	19	284	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21206670	21206670	7833	9	C	G	G	G	221	17	IFNA10	3	3
BTK	695	broad.mit.edu	37	X	100615129	100615129	+	Silent	SNP	G	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:100615129G>A	uc010nno.2	-	c.888C>T	c.(886-888)GGC>GGT	p.G296G	BTK_uc004ehf.2_5'Flank|BTK_uc010nnh.2_5'Flank|BTK_uc010nni.2_5'Flank|BTK_uc004ehe.2_5'Flank|BTK_uc010nnj.2_5'Flank|BTK_uc010nnk.2_5'Flank|BTK_uc010nnl.2_5'Flank|BTK_uc010nnm.2_5'Flank|BTK_uc004ehg.2_Silent_p.G262G|BTK_uc010nnn.2_Silent_p.G262G|BTK_uc004ehh.1_5'Flank|BTK_uc004ehi.2_Silent_p.G262G	NM_000061	NP_000052	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	262	SH3.		Missing (in XLA; severe).		calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			central_nervous_system(2)|ovary(1)|lung(1)	4										247				0.118644	6.487298	14.846617	7	52	KEEP	---	---	---	---	capture		Silent	SNP	100615129	100615129	1591	23	G	A	A	A	431	34	BTK	2	2
ODZ1	10178	broad.mit.edu	37	X	123525995	123525995	+	Silent	SNP	C	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:123525995C>T	uc010nqy.2	-	c.5595G>A	c.(5593-5595)ACG>ACA	p.T1865T	ODZ1_uc011muj.1_Silent_p.T1864T|ODZ1_uc004euj.2_Silent_p.T1858T	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 1	1858	Extracellular (Potential).|YD 6.				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				0.077778	-0.246677	16.162007	7	83	KEEP	---	---	---	---	capture		Silent	SNP	123525995	123525995	11239	23	C	T	T	T	236	19	ODZ1	1	1
FRMPD4	9758	broad.mit.edu	37	X	12734337	12734337	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:12734337A>T	uc004cuz.1	+	c.1759A>T	c.(1759-1761)ATG>TTG	p.M587L	FRMPD4_uc011mij.1_Missense_Mutation_p.M579L	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	587					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13														0.079545	2.22112	33.965652	14	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12734337	12734337	6309	23	A	T	T	T	104	8	FRMPD4	3	3
GPR112	139378	broad.mit.edu	37	X	135429050	135429050	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135429050C>A	uc004ezu.1	+	c.3185C>A	c.(3184-3186)GCA>GAA	p.A1062E	GPR112_uc010nsb.1_Missense_Mutation_p.A857E|GPR112_uc010nsc.1_Missense_Mutation_p.A829E	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1062	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				0.056416	-90.235467	96.943723	51	853	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135429050	135429050	6903	23	C	A	A	A	325	25	GPR112	2	2
CD40LG	959	broad.mit.edu	37	X	135730549	135730549	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135730549A>G	uc004faa.2	+	c.142A>G	c.(142-144)AGA>GGA	p.R48G	CD40LG_uc010nsd.2_Missense_Mutation_p.R48G|CD40LG_uc010nse.1_5'Flank	NM_000074	NP_000065	P29965	CD40L_HUMAN	CD40 ligand	48	Extracellular (Potential).				anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)					77				0.042654	-26.791586	20.557549	9	202	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135730549	135730549	3144	23	A	G	G	G	192	15	CD40LG	4	4
MAGEC3	139081	broad.mit.edu	37	X	140985530	140985530	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:140985530C>A	uc011mwp.1	+	c.1844C>A	c.(1843-1845)GCC>GAC	p.A615D	MAGEC3_uc004fbs.2_3'UTR|MAGEC3_uc010nsj.2_3'UTR	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	615	MAGE 2.									skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.067961	-7.212639	12.650035	7	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140985530	140985530	9563	23	C	A	A	A	338	26	MAGEC3	2	2
TKTL1	8277	broad.mit.edu	37	X	153556305	153556305	+	Splice_Site_SNP	SNP	G	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153556305G>A	uc004fkg.2	+	c.1618_splice	c.e12+1	p.G540_splice	TKTL1_uc011mzl.1_Splice_Site_SNP_p.G534_splice|TKTL1_uc011mzm.1_Splice_Site_SNP_p.G336_splice|TKTL1_uc004fkh.2_Splice_Site_SNP_p.G484_splice	NM_012253	NP_036385			transketolase-like 1 isoform a						glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)													0.041451	-29.669799	13.992078	8	185	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	153556305	153556305	16464	23	G	A	A	A	572	44	TKTL1	5	2
F8	2157	broad.mit.edu	37	X	154132272	154132272	+	Silent	SNP	A	G	G			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:154132272A>G	uc004fmt.2	-	c.5907T>C	c.(5905-5907)AAT>AAC	p.N1969N	F8_uc010nvi.1_Silent_p.N128N	NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	1969	F5/8 type A 3.|Plastocyanin-like 6.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|oxidation-reduction process|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)					359				0.063218	-11.66322	22.859211	11	163	KEEP	---	---	---	---	capture		Silent	SNP	154132272	154132272	5544	23	A	G	G	G	102	8	F8	4	4
NHS	4810	broad.mit.edu	37	X	17750408	17750408	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:17750408G>C	uc011mix.1	+	c.4780G>C	c.(4780-4782)GCC>CCC	p.A1594P	NHS_uc004cxx.2_Missense_Mutation_p.A1573P|NHS_uc004cxy.2_Missense_Mutation_p.A1417P|NHS_uc004cxz.2_Missense_Mutation_p.A1396P|NHS_uc004cya.2_Missense_Mutation_p.A1296P	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 2	1573						nucleus				ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6	Hepatocellular(33;0.183)													0.071429	0.940874	14.165999	5	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17750408	17750408	10811	23	G	C	C	C	598	46	NHS	3	3
CNKSR2	22866	broad.mit.edu	37	X	21545096	21545097	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:21545096_21545097CC>AA	uc004czx.1	+	c.1069_1070CC>AA	c.(1069-1071)CCT>AAT	p.P357N	CNKSR2_uc004czw.2_Missense_Mutation_p.P357N|CNKSR2_uc011mjn.1_Missense_Mutation_p.P308N|CNKSR2_uc011mjo.1_Missense_Mutation_p.P357N|CNKSR2_uc004czy.2_De_novo_Start_OutOfFrame	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	357	Poly-Pro.|DUF1170.				regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)	1														0.042748	-93.804752	53.134091	28	627	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	21545096	21545097	3745	23	CC	AA	AA	AA	390	30	CNKSR2	2	2
IL1RAPL1	11141	broad.mit.edu	37	X	29938087	29938087	+	Silent	SNP	G	T	T			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:29938087G>T	uc004dby.2	+	c.933G>T	c.(931-933)GGG>GGT	p.G311G		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	311	Extracellular (Potential).|Ig-like C2-type 3.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5														0.04908	-19.519474	15.6719	8	155	KEEP	---	---	---	---	capture		Silent	SNP	29938087	29938087	7962	23	G	T	T	T	548	43	IL1RAPL1	2	2
RBM3	5935	broad.mit.edu	37	X	48435468	48435468	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:48435468C>A	uc004dkf.1	+	c.468C>A	c.(466-468)GAC>GAA	p.D156E	RBM3_uc004dkd.1_Non-coding_Transcript|RBM3_uc004dkg.2_Missense_Mutation_p.D156E	NM_006743	NP_006734	P98179	RBM3_HUMAN	RNA binding motif protein 3	156					positive regulation of translation	dendrite|nucleus	nucleotide binding|RNA binding			ovary(1)	1														0.058824	-5.999689	11.330953	5	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48435468	48435468	13591	23	C	A	A	A	220	17	RBM3	2	2
KIAA2022	340533	broad.mit.edu	37	X	73960537	73960537	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:73960537C>A	uc004eby.2	-	c.3855G>T	c.(3853-3855)TTG>TTT	p.L1285F		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	1285					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|central_nervous_system(1)	14										126				0.072165	-2.052069	16.225193	7	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73960537	73960537	8580	23	C	A	A	A	272	21	KIAA2022	2	2
SYTL4	94121	broad.mit.edu	37	X	99956502	99956502	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:99956502A>G	uc004egd.3	-	c.278T>C	c.(277-279)ATA>ACA	p.I93T	SYTL4_uc010nnc.2_Missense_Mutation_p.I93T|SYTL4_uc004ege.3_Missense_Mutation_p.I93T|SYTL4_uc004egf.3_Missense_Mutation_p.I93T|SYTL4_uc004egg.3_Missense_Mutation_p.I93T	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	93	RabBD.|FYVE-type.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			ovary(2)	2					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)									0.039548	-25.393143	15.071893	7	170	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99956502	99956502	16006	23	A	G	G	G	208	16	SYTL4	4	4
SEC14L5	9717	broad.mit.edu	37	16	5061151	5061152	+	Frame_Shift_Ins	INS	-	C	C			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:5061151_5061152insC	uc002cye.2	+	c.1856_1857insC	c.(1855-1857)AGCfs	p.S619fs		NM_014692	NP_055507	O43304	S14L5_HUMAN	SEC14-like 5	619	GOLD.					integral to membrane|intracellular	transporter activity				0														0.33			3	6		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	5061151	5061152	14471	16	-	C	C	C	442	34	SEC14L5	5	5
LGI4	163175	broad.mit.edu	37	19	35617603	35617604	+	Frame_Shift_Ins	INS	-	C	C			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:35617603_35617604insC	uc002nxx.2	-	c.869_870insG	c.(868-870)GGCfs	p.G290fs	LGI4_uc002nxy.1_Frame_Shift_Ins_p.G118fs|LGI4_uc002nxz.1_Frame_Shift_Ins_p.G118fs	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	290						extracellular region				pancreas(1)	1	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)											0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	35617603	35617604	9080	19	-	C	C	C	431	34	LGI4	5	5
CDH4	1002	broad.mit.edu	37	20	60511945	60511946	+	Frame_Shift_Ins	INS	-	G	G			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:60511945_60511946insG	uc002ybn.1	+	c.2695_2696insG	c.(2695-2697)TGGfs	p.W899fs	CDH4_uc002ybp.1_Frame_Shift_Ins_p.W825fs	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	899	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)	5			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)											0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	60511945	60511946	3241	20	-	G	G	G	715	55	CDH4	5	5
LHX6	26468	broad.mit.edu	37	9	124989761	124989762	+	Splice_Site_Ins	INS	-	G	G			TCGA-17-Z052-01	TCGA-17-Z052-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:124989761_124989762insG	uc004blx.3	-	c.85_splice	c.e2-1	p.V29_splice	LHX6_uc010mvw.2_5'UTR|LHX6_uc004bly.3_Splice_Site_Ins_p.V29_splice	NM_014368	NP_055183			LIM homeobox protein 6 isoform 1						cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding				0														0.33			2	4		---	---	---	---	capture_indel		Splice_Site_Ins	INS	124989761	124989762	9101	9	-	G	G	G	715	55	LHX6	5	5
