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
CYP17A1	1586	broad.mit.edu	37	10	104593791	104593791	+	Splice_Site_SNP	SNP	A	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:104593791A>G	uc001kwg.2	-	c.753_splice	c.e4+1	p.K251_splice		NM_000102	NP_000093			cytochrome P450, family 17						androgen biosynthetic process|glucocorticoid biosynthetic process|oxidation-reduction process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity				0		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)					154				0.354839	40.62387	41.196142	11	20	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	104593791	104593791	4312	10	A	G	G	G	182	14	CYP17A1	5	4
SORCS3	22986	broad.mit.edu	37	10	106970900	106970900	+	Missense_Mutation	SNP	A	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:106970900A>C	uc001kyi.1	+	c.2267A>C	c.(2266-2268)TAT>TCT	p.Y756S	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	756	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|central_nervous_system(1)	7		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		NSCLC(116;1497 1690 7108 13108 14106)								0.4	56.79627	57.144817	16	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106970900	106970900	15432	10	A	C	C	C	208	16	SORCS3	4	4
SORCS3	22986	broad.mit.edu	37	10	106970934	106970934	+	Silent	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:106970934C>T	uc001kyi.1	+	c.2301C>T	c.(2299-2301)GTC>GTT	p.V767V	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	767	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|central_nervous_system(1)	7		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		NSCLC(116;1497 1690 7108 13108 14106)								0.139535	9.018573	14.418076	6	37	KEEP	---	---	---	---	capture		Silent	SNP	106970934	106970934	15432	10	C	T	T	T	379	30	SORCS3	2	2
SORCS1	114815	broad.mit.edu	37	10	108431126	108431126	+	Splice_Site_SNP	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:108431126C>T	uc001kyl.2	-	c.2059_splice	c.e16-1	p.G687_splice	SORCS1_uc001kym.2_Splice_Site_SNP_p.G687_splice|SORCS1_uc009xxs.2_Splice_Site_SNP_p.G687_splice|SORCS1_uc001kyn.1_Splice_Site_SNP_p.G687_splice|SORCS1_uc001kyo.2_Splice_Site_SNP_p.G687_splice	NM_001013031	NP_001013049			SORCS receptor 1 isoform b							integral to membrane	neuropeptide receptor activity|protein binding			breast(1)	1		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)										0.304054	134.435882	139.496816	45	103	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	108431126	108431126	15430	10	C	T	T	T	312	24	SORCS1	5	2
SHOC2	8036	broad.mit.edu	37	10	112764372	112764372	+	Silent	SNP	A	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:112764372A>G	uc001kzl.3	+	c.981A>G	c.(979-981)TTA>TTG	p.L327L	SHOC2_uc009xxx.2_Silent_p.L327L|SHOC2_uc010qrg.1_5'UTR|SHOC2_uc001kzn.2_Silent_p.L281L	NM_007373	NP_031399	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog	327	LRR 10.				fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			ovary(1)	1				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)										0.194805	44.029272	50.679867	15	62	KEEP	---	---	---	---	capture		Silent	SNP	112764372	112764372	14782	10	A	G	G	G	206	16	SHOC2	4	4
SEC61A2	55176	broad.mit.edu	37	10	12206397	12206397	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:12206397G>A	uc001ile.2	+	c.1375G>A	c.(1375-1377)GAA>AAA	p.E459K	SEC61A2_uc010qbq.1_Missense_Mutation_p.E437K|SEC61A2_uc001ilf.3_Intron|SEC61A2_uc001ilh.3_Intron|SEC61A2_uc001ilg.3_Intron	NM_018144	NP_060614	Q9H9S3	S61A2_HUMAN	Sec61 alpha form 2 isoform a	459	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			ovary(1)	1		Renal(717;0.228)												0.12782	19.97231	37.942876	17	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12206397	12206397	14487	10	G	A	A	A	585	45	SEC61A2	2	2
GPR123	84435	broad.mit.edu	37	10	134940764	134940764	+	Silent	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:134940764C>T	uc001llx.3	+	c.429C>T	c.(427-429)CCC>CCT	p.P143P	GPR123_uc001llw.2_Silent_p.P863P	NM_001083909	NP_001077378	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	143	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)										0.277778	13.767202	14.566984	5	13	KEEP	---	---	---	---	capture		Silent	SNP	134940764	134940764	6911	10	C	T	T	T	301	24	GPR123	2	2
TUBGCP2	10844	broad.mit.edu	37	10	135106116	135106116	+	Silent	SNP	T	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:135106116T>G	uc010qvc.1	-	c.1185A>C	c.(1183-1185)ACA>ACC	p.T395T	TUBGCP2_uc001lmf.1_5'Flank|TUBGCP2_uc001lmg.1_Silent_p.T367T|TUBGCP2_uc009ybk.1_Silent_p.T367T|TUBGCP2_uc010qvd.1_Silent_p.T237T|TUBGCP2_uc001lmh.1_Non-coding_Transcript	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	367					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	cytoplasmic microtubule|cytosol|microtubule organizing center|spindle pole	protein binding				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)										0.428571	45.701349	45.860007	15	20	KEEP	---	---	---	---	capture		Silent	SNP	135106116	135106116	17321	10	T	G	G	G	704	55	TUBGCP2	4	4
CALY	50632	broad.mit.edu	37	10	135139522	135139522	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:135139522G>T	uc001lmo.2	-	c.463C>A	c.(463-465)CGC>AGC	p.R155S		NM_015722	NP_056537	Q9NYX4	CALY_HUMAN	dopamine receptor D1 interacting protein	155	Cytoplasmic (Potential).				clathrin coat assembly|dopamine receptor signaling pathway|endocytosis|positive regulation of endocytosis	cytoplasmic vesicle membrane|integral to plasma membrane	clathrin light chain binding|dopamine receptor binding				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;6.94e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)	Apomorphine(DB00714)|Clozapine(DB00363)|Flupenthixol(DB00875)|Trifluoperazine(DB00831)									0.666667	14.002239	14.150042	4	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135139522	135139522	2712	10	G	T	T	T	507	39	CALY	1	1
SLC39A12	221074	broad.mit.edu	37	10	18331687	18331687	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:18331687G>T	uc001ipo.2	+	c.2001G>T	c.(1999-2001)CTG>CTT	p.L667L	SLC39A12_uc001ipn.2_Silent_p.L630L|SLC39A12_uc001ipp.2_Silent_p.L666L|SLC39A12_uc010qck.1_Silent_p.L533L	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	667	Helical; (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2														0.26	66.60233	71.818929	26	74	KEEP	---	---	---	---	capture		Silent	SNP	18331687	18331687	15112	10	G	T	T	T	587	46	SLC39A12	2	2
GPR158	57512	broad.mit.edu	37	10	25861766	25861766	+	Missense_Mutation	SNP	T	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:25861766T>G	uc001isj.2	+	c.1703T>G	c.(1702-1704)CTC>CGC	p.L568R		NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	568	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)	7														0.106061	6.875471	17.049471	7	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25861766	25861766	6938	10	T	G	G	G	702	54	GPR158	4	4
PTCHD3	374308	broad.mit.edu	37	10	27700774	27700774	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:27700774T>A	uc001itu.2	-	c.1174A>T	c.(1174-1176)ATT>TTT	p.I392F		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	392	SSD.|Helical; (Potential).				spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4														0.2	40.756852	47.450464	16	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27700774	27700774	13188	10	T	A	A	A	663	51	PTCHD3	3	3
CXCL12	6387	broad.mit.edu	37	10	44871437	44871437	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:44871437T>C	uc001jbh.2	-	c.310A>G	c.(310-312)AAA>GAA	p.K104E	CXCL12_uc001jbf.2_Intron	NM_001033886	NP_001029058	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12 (stromal	Error:Variant_position_missing_in_P48061_after_alignment					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity				0					Dexamethasone(DB01234)					379				0.095	23.777145	56.69963	19	181	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44871437	44871437	4240	10	T	C	C	C	832	64	CXCL12	4	4
C10orf72	196740	broad.mit.edu	37	10	50315879	50315879	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:50315879C>A	uc001jhf.2	-	c.217G>T	c.(217-219)GCC>TCC	p.A73S	C10orf72_uc001jhh.2_Missense_Mutation_p.A73S	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	hypothetical protein LOC196740 isoform 1	73	Ig-like.|Extracellular (Potential).					integral to membrane|plasma membrane				large_intestine(1)|liver(1)	2														0.244444	23.195587	25.880294	11	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50315879	50315879	1652	10	C	A	A	A	338	26	C10orf72	2	2
CHAT	1103	broad.mit.edu	37	10	50863202	50863202	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:50863202C>A	uc001jhz.2	+	c.1696C>A	c.(1696-1698)CGC>AGC	p.R566S	CHAT_uc001jhv.1_Missense_Mutation_p.R448S|CHAT_uc001jhx.1_Missense_Mutation_p.R448S|CHAT_uc001jhy.1_Missense_Mutation_p.R448S|CHAT_uc001jia.2_Missense_Mutation_p.R448S|CHAT_uc010qgs.1_Missense_Mutation_p.R448S	NM_020549	NP_065574	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	566					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)	3		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)									0.12766	17.45883	30.143889	12	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50863202	50863202	3447	10	C	A	A	A	247	19	CHAT	1	1
NCOA4	8031	broad.mit.edu	37	10	51584632	51584632	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:51584632G>T	uc009xon.2	+	c.779G>T	c.(778-780)TGC>TTC	p.C260F	PARG_uc001jih.2_Intron|NCOA4_uc010qhd.1_Missense_Mutation_p.C260F|NCOA4_uc001jis.3_Missense_Mutation_p.C244F|NCOA4_uc010qhe.1_Missense_Mutation_p.C144F|NCOA4_uc010qhf.1_Missense_Mutation_p.C78F|NCOA4_uc001jit.2_Missense_Mutation_p.C244F|NCOA4_uc009xoo.2_Missense_Mutation_p.C244F	NM_001145260	NP_001138732	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4 isoform 1	244					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			central_nervous_system(1)|kidney(1)	2									p.C260Y(REH-Tumor)	48				0.2	50.780149	60.39115	23	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51584632	51584632	10630	10	G	T	T	T	598	46	NCOA4	2	2
DKK1	22943	broad.mit.edu	37	10	54074333	54074333	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:54074333C>A	uc001jjr.2	+	c.139C>A	c.(139-141)CCA>ACA	p.P47T		NM_012242	NP_036374	O94907	DKK1_HUMAN	dickkopf homolog 1 precursor	47					negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3										158		OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.206186	40.240283	47.936685	20	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54074333	54074333	4724	10	C	A	A	A	286	22	DKK1	2	2
PCDH15	65217	broad.mit.edu	37	10	55839091	55839091	+	Silent	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:55839091C>A	uc010qhy.1	-	c.2106G>T	c.(2104-2106)GGG>GGT	p.G702G	PCDH15_uc010qhq.1_Silent_p.G702G|PCDH15_uc010qhr.1_Silent_p.G697G|PCDH15_uc010qhs.1_Silent_p.G709G|PCDH15_uc010qht.1_Silent_p.G704G|PCDH15_uc010qhu.1_Silent_p.G697G|PCDH15_uc001jjv.1_Silent_p.G675G|PCDH15_uc010qhv.1_Silent_p.G697G|PCDH15_uc010qhw.1_Silent_p.G660G|PCDH15_uc010qhx.1_Silent_p.G626G|PCDH15_uc010qhz.1_Silent_p.G697G|PCDH15_uc010qia.1_Silent_p.G675G|PCDH15_uc001jju.1_Silent_p.G697G|PCDH15_uc010qib.1_Silent_p.G675G|PCDH15_uc001jjw.2_Silent_p.G697G	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-1 precursor	697	Cadherin 6.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)	9		Melanoma(3;0.117)|Lung SC(717;0.238)								1612				0.137255	20.141075	33.079317	14	88	KEEP	---	---	---	---	capture		Silent	SNP	55839091	55839091	11931	10	C	A	A	A	275	22	PCDH15	2	2
BICC1	80114	broad.mit.edu	37	10	60577385	60577385	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:60577385G>T	uc001jki.1	+	c.2597G>T	c.(2596-2598)GGC>GTC	p.G866V		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	866					multicellular organismal development		RNA binding			ovary(2)|lung(1)	3														0.43038	98.331801	98.666766	34	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60577385	60577385	1452	10	G	T	T	T	546	42	BICC1	2	2
ANK3	288	broad.mit.edu	37	10	61844360	61844360	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:61844360C>A	uc001jky.2	-	c.4074G>T	c.(4072-4074)GAG>GAT	p.E1358D	ANK3_uc001jkw.2_Missense_Mutation_p.E492D|ANK3_uc009xpa.2_Missense_Mutation_p.E492D|ANK3_uc001jkx.2_Missense_Mutation_p.E536D|ANK3_uc010qih.1_Missense_Mutation_p.E1359D|ANK3_uc001jkz.3_Missense_Mutation_p.E1352D|ANK3_uc001jla.1_Missense_Mutation_p.E424D|ANK3_uc001jlb.1_Missense_Mutation_p.E876D|ANK3_uc001jkv.2_5'Flank	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1358					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			ovary(6)|pancreas(2)|central_nervous_system(1)|skin(1)	10														0.248062	72.507492	79.985664	32	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61844360	61844360	625	10	C	A	A	A	311	24	ANK3	2	2
COL13A1	1305	broad.mit.edu	37	10	71683578	71683578	+	Silent	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:71683578C>A	uc001jpr.1	+	c.1218C>A	c.(1216-1218)GGC>GGA	p.G406G	COL13A1_uc001jqj.1_Silent_p.G406G|COL13A1_uc001jps.1_Silent_p.G377G|COL13A1_uc001jpt.1_Silent_p.G365G|COL13A1_uc001jpu.1_Silent_p.G387G|COL13A1_uc001jpv.1_Silent_p.G406G|COL13A1_uc001jpx.1_Silent_p.G384G|COL13A1_uc001jpw.1_Silent_p.G353G|COL13A1_uc001jpy.1_Silent_p.G344G|COL13A1_uc001jpz.1_Silent_p.G349G|COL13A1_uc001jqa.1_Silent_p.G346G|COL13A1_uc001jqc.1_Silent_p.G406G|COL13A1_uc001jqb.1_Silent_p.G355G|COL13A1_uc001jql.2_Silent_p.G406G|COL13A1_uc001jqd.1_Silent_p.G394G|COL13A1_uc001jqe.1_Silent_p.G389G|COL13A1_uc001jqf.1_Silent_p.G387G|COL13A1_uc001jqg.1_Silent_p.G384G|COL13A1_uc001jqh.1_Silent_p.G406G|COL13A1_uc001jqi.1_Silent_p.G406G|COL13A1_uc010qjf.1_Silent_p.G196G|COL13A1_uc001jqk.1_Silent_p.G244G	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN	alpha 1 type XIII collagen isoform 1	406	Extracellular (Potential).|Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			ovary(1)	1					Atorvastatin(DB01076)|Simvastatin(DB00641)									0.333333	17.816276	18.333752	7	14	KEEP	---	---	---	---	capture		Silent	SNP	71683578	71683578	3808	10	C	A	A	A	327	26	COL13A1	2	2
UNC5B	219699	broad.mit.edu	37	10	73050706	73050706	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:73050706G>T	uc001jro.2	+	c.1134G>T	c.(1132-1134)GCG>GCT	p.A378A	UNC5B_uc001jrp.2_Silent_p.A367A	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	378	Helical; (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3														0.158076	84.664272	117.022934	46	245	KEEP	---	---	---	---	capture		Silent	SNP	73050706	73050706	17550	10	G	T	T	T	496	39	UNC5B	1	1
CDH23	64072	broad.mit.edu	37	10	73330613	73330613	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:73330613G>T	uc001jrx.3	+	c.691G>T	c.(691-693)GAC>TAC	p.D231Y	CDH23_uc001jrw.3_Missense_Mutation_p.D231Y|CDH23_uc009xql.2_Missense_Mutation_p.D276Y	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	231	Cadherin 2.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11												OREG0020254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.135802	12.685678	23.084743	11	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73330613	73330613	3237	10	G	T	T	T	533	41	CDH23	2	2
ZMIZ1	57178	broad.mit.edu	37	10	81053264	81053264	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:81053264G>T	uc001kaf.2	+	c.1084G>T	c.(1084-1086)GGC>TGC	p.G362C	ZMIZ1_uc001kag.2_Missense_Mutation_p.G238C|ZMIZ1_uc001kah.1_Missense_Mutation_p.G244C	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	362	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)	3	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)											0.185185	35.83992	45.886792	20	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81053264	81053264	18287	10	G	T	T	T	507	39	ZMIZ1	1	1
NRG3	10718	broad.mit.edu	37	10	84738815	84738815	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:84738815C>T	uc001kco.2	+	c.1522C>T	c.(1522-1524)CCA>TCA	p.P508S	NRG3_uc010qlz.1_Missense_Mutation_p.P507S|NRG3_uc001kcp.2_Missense_Mutation_p.P287S|NRG3_uc001kcq.2_Missense_Mutation_p.P158S|NRG3_uc001kcr.2_Missense_Mutation_p.P158S	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	508	Cytoplasmic (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity				0				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)										0.433962	66.215153	66.416835	23	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84738815	84738815	11054	10	C	T	T	T	234	18	NRG3	2	2
KIF20B	9585	broad.mit.edu	37	10	91522499	91522499	+	Silent	SNP	A	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:91522499A>T	uc001kgs.1	+	c.4896A>T	c.(4894-4896)CCA>CCT	p.P1632P	KIF20B_uc001kgr.1_Silent_p.P1592P|KIF20B_uc001kgt.1_Silent_p.P843P|KIF20B_uc009xtw.1_Non-coding_Transcript	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	1632	Interaction with PIN1.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)	2														0.123077	9.160044	18.193684	8	57	KEEP	---	---	---	---	capture		Silent	SNP	91522499	91522499	8598	10	A	T	T	T	54	5	KIF20B	3	3
PLCE1	51196	broad.mit.edu	37	10	95791988	95791988	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:95791988G>T	uc001kjk.2	+	c.1185G>T	c.(1183-1185)CTG>CTT	p.L395L	PLCE1_uc010qnx.1_Silent_p.L395L	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	395					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|phospholipid metabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)												0.28125	48.418761	51.173888	18	46	KEEP	---	---	---	---	capture		Silent	SNP	95791988	95791988	12460	10	G	T	T	T	613	48	PLCE1	2	2
PIK3AP1	118788	broad.mit.edu	37	10	98388154	98388154	+	Splice_Site_SNP	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:98388154C>A	uc001kmq.2	-	c.1471_splice	c.e9+1	p.G491_splice	PIK3AP1_uc001kmo.2_Splice_Site_SNP_p.G90_splice|PIK3AP1_uc001kmp.2_Splice_Site_SNP_p.G313_splice	NM_152309	NP_689522			phosphoinositide-3-kinase adaptor protein 1							cytoplasm|plasma membrane				ovary(1)	1		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)										0.228682	137.452333	154.847007	59	199	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	98388154	98388154	12332	10	C	A	A	A	234	18	PIK3AP1	5	2
PIK3AP1	118788	broad.mit.edu	37	10	98469379	98469379	+	Silent	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:98469379G>A	uc001kmq.2	-	c.375C>T	c.(373-375)ACC>ACT	p.T125T		NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	125						cytoplasm|plasma membrane				ovary(1)	1		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)										0.231707	42.053364	47.493097	19	63	KEEP	---	---	---	---	capture		Silent	SNP	98469379	98469379	12332	10	G	A	A	A	444	35	PIK3AP1	2	2
CNTN5	53942	broad.mit.edu	37	11	100141943	100141943	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:100141943C>G	uc001pga.2	+	c.2284C>G	c.(2284-2286)CCA>GCA	p.P762A	CNTN5_uc001pfz.2_Missense_Mutation_p.P762A|CNTN5_uc001pgb.2_Missense_Mutation_p.P688A|CNTN5_uc010ruk.1_Missense_Mutation_p.P33A	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	762	Fibronectin type-III 1.				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				0.277778	29.833827	31.4337	10	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100141943	100141943	3782	11	C	G	G	G	286	22	CNTN5	3	3
C11orf87	399947	broad.mit.edu	37	11	109294562	109294562	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:109294562T>C	uc001pkn.2	+	c.203T>C	c.(202-204)GTT>GCT	p.V68A	C11orf87_uc010rwb.1_5'Flank	NM_207645	NP_997528	Q6NUJ2	CK087_HUMAN	hypothetical protein LOC399947 precursor	68	Helical; (Potential).					integral to membrane				ovary(2)	2														0.121212	12.658878	21.939256	8	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109294562	109294562	1709	11	T	C	C	C	780	60	C11orf87	4	4
MUC2	4583	broad.mit.edu	37	11	1097313	1097313	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1097313C>A	uc001lsx.1	+	c.13815C>A	c.(13813-13815)TTC>TTA	p.F4605L		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4605	VWFD 4.					inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)									0.206897	21.471941	26.09121	12	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1097313	1097313	10369	11	C	A	A	A	415	32	MUC2	2	2
LAYN	143903	broad.mit.edu	37	11	111420459	111420460	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:111420459_111420460GG>AT	uc001plr.1	+	c.524_525GG>AT	c.(523-525)CGG>CAT	p.R175H	LAYN_uc001plp.1_Missense_Mutation_p.R167H|LAYN_uc001plq.1_Missense_Mutation_p.R175H|LAYN_uc001pls.1_Missense_Mutation_p.R167H|LAYN_uc010rwg.1_Intron|LAYN_uc010rwh.1_Missense_Mutation_p.R23H	NM_178834	NP_849156	Q6UX15	LAYN_HUMAN	layilin	175	C-type lectin.|Extracellular (Potential).					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding				0		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		Ovarian(17;551 586 12136 22082 22900)								0.166667	19.183569	26.137833	11	55	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	111420459	111420460	8972	11	GG	AT	AT	AT	507	39	LAYN	1	1
ALG9	79796	broad.mit.edu	37	11	111680426	111680426	+	Silent	SNP	A	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:111680426A>G	uc010rwm.1	-	c.1674T>C	c.(1672-1674)TAT>TAC	p.Y558Y	ALG9_uc001ply.2_Silent_p.Y380Y|ALG9_uc001plz.2_Silent_p.Y387Y|ALG9_uc001pmb.2_Silent_p.Y551Y|ALG9_uc010rwn.1_Silent_p.Y505Y|ALG9_uc010rwo.1_Silent_p.Y379Y	NM_024740	NP_079016	Q9H6U8	ALG9_HUMAN	asparagine-linked glycosylation 9 protein	551	Lumenal (Potential).				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			large_intestine(1)|ovary(1)	2		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)										0.188406	34.935644	41.203315	13	56	KEEP	---	---	---	---	capture		Silent	SNP	111680426	111680426	527	11	A	G	G	G	50	4	ALG9	4	4
DRD2	1813	broad.mit.edu	37	11	113295192	113295192	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:113295192C>T	uc001pnz.2	-	c.182G>A	c.(181-183)CGC>CAC	p.R61H	DRD2_uc010rwv.1_Missense_Mutation_p.R61H|DRD2_uc001poa.3_Missense_Mutation_p.R61H|DRD2_uc001pob.3_Missense_Mutation_p.R61H|DRD2_uc009yyr.1_Missense_Mutation_p.R61H	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	61	Cytoplasmic (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|diuresis|dopamine metabolic process|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|natriuresis|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane|integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)	1		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)				p.R61L(KMBC2-Tumor)|p.R61H(RCHACV-Tumor)	215				0.145833	10.191637	15.983833	7	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113295192	113295192	4941	11	C	T	T	T	351	27	DRD2	1	1
DSCAML1	57453	broad.mit.edu	37	11	117299216	117299216	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:117299216G>T	uc001prh.1	-	c.6170C>A	c.(6169-6171)ACC>AAC	p.T2057N		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1997	Cytoplasmic (Potential).|Pro-rich.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)	5	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)										0.705882	40.404406	41.048465	12	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117299216	117299216	4953	11	G	T	T	T	572	44	DSCAML1	2	2
TRIM29	23650	broad.mit.edu	37	11	119998088	119998088	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:119998088G>T	uc001pwz.2	-	c.1090C>A	c.(1090-1092)CGG>AGG	p.R364R	TRIM29_uc010rzi.1_Silent_p.R103R|TRIM29_uc010rzj.1_Silent_p.R97R|TRIM29_uc001pxa.2_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	tripartite motif protein TRIM29	364					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)|kidney(1)	3		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)										0.221374	66.712938	76.073657	29	102	KEEP	---	---	---	---	capture		Silent	SNP	119998088	119998088	17047	11	G	T	T	T	506	39	TRIM29	1	1
TMEM136	219902	broad.mit.edu	37	11	120201131	120201131	+	Silent	SNP	A	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:120201131A>C	uc001pxj.2	+	c.711A>C	c.(709-711)GCA>GCC	p.A237A	TMEM136_uc001pxg.2_Silent_p.A118A|TMEM136_uc010rzm.1_Silent_p.A96A|TMEM136_uc009zas.1_Silent_p.A101A|TMEM136_uc001pxh.1_Silent_p.A215A|TMEM136_uc001pxi.1_Silent_p.A101A	NM_174926	NP_777586	Q6ZRR5	TM136_HUMAN	transmembrane protein 136	215						integral to membrane				ovary(1)	1		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)										0.193548	15.132356	17.849426	6	25	KEEP	---	---	---	---	capture		Silent	SNP	120201131	120201131	16584	11	A	C	C	C	93	8	TMEM136	4	4
SORL1	6653	broad.mit.edu	37	11	121477578	121477578	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:121477578A>T	uc001pxx.2	+	c.4973A>T	c.(4972-4974)CAG>CTG	p.Q1658L	SORL1_uc010rzp.1_Missense_Mutation_p.Q504L|SORL1_uc010rzq.1_Missense_Mutation_p.Q273L	NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	1658	Extracellular (Potential).|Fibronectin type-III 2.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	13		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)						937				0.107345	17.595173	44.675682	19	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121477578	121477578	15434	11	A	T	T	T	91	7	SORL1	3	3
OR6T1	219874	broad.mit.edu	37	11	123813850	123813850	+	Silent	SNP	A	T	T	rs76651236	byFrequency;by1000genomes	TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123813850A>T	uc010sab.1	-	c.696T>A	c.(694-696)GCT>GCA	p.A232A		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T,	232	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)										0.163636	31.277883	43.104582	18	92	KEEP	---	---	---	---	capture		Silent	SNP	123813850	123813850	11621	11	A	T	T	T	80	7	OR6T1	3	3
OR10G9	219870	broad.mit.edu	37	11	123894150	123894150	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123894150C>A	uc010sad.1	+	c.431C>A	c.(430-432)GCC>GAC	p.A144D		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G,	144	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)										0.161572	64.147659	89.086578	37	192	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123894150	123894150	11310	11	C	A	A	A	338	26	OR10G9	2	2
FEZ1	9638	broad.mit.edu	37	11	125325977	125325977	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:125325977C>A	uc001qbx.2	-	c.693G>T	c.(691-693)GAG>GAT	p.E231D	FEZ1_uc001qbw.2_Missense_Mutation_p.E21D|FEZ1_uc010sbc.1_Missense_Mutation_p.E202D	NM_005103	NP_005094	Q99689	FEZ1_HUMAN	zygin 1 isoform 1	231	Potential.				axon guidance|cell adhesion|transport	microtubule|plasma membrane				central_nervous_system(3)|ovary(1)	4	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		Melanoma(180;509 2033 10762 15939 24711)								0.149254	15.606587	23.513662	10	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125325977	125325977	6060	11	C	A	A	A	363	28	FEZ1	2	2
TEAD1	7003	broad.mit.edu	37	11	12883843	12883843	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:12883843G>C	uc001mkj.3	+	c.204G>C	c.(202-204)AAG>AAC	p.K68N	TEAD1_uc009ygk.2_Non-coding_Transcript	NM_021961	NP_068780	P28347	TEAD1_HUMAN	TEA domain family member 1	83	TEA.				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)										0.395349	59.666826	60.078814	17	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12883843	12883843	16265	11	G	C	C	C	425	33	TEAD1	3	3
NTM	50863	broad.mit.edu	37	11	132180009	132180009	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:132180009C>T	uc010sci.1	+	c.665C>T	c.(664-666)CCA>CTA	p.P222L	NTM_uc001qgm.2_Missense_Mutation_p.P222L|NTM_uc010sch.1_Missense_Mutation_p.P213L|NTM_uc010scj.1_Missense_Mutation_p.P181L|NTM_uc001qgo.2_Missense_Mutation_p.P222L|NTM_uc001qgq.2_Missense_Mutation_p.P222L|NTM_uc001qgp.2_Missense_Mutation_p.P222L|NTM_uc001qgr.2_5'UTR	NM_001144058	NP_001137530	Q9P121	NTRI_HUMAN	neurotrimin isoform 3	222	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)	5														0.257642	157.099733	169.239484	59	170	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132180009	132180009	11104	11	C	T	T	T	273	21	NTM	2	2
NELL1	4745	broad.mit.edu	37	11	21592478	21592478	+	Silent	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:21592478C>A	uc009yid.2	+	c.2233C>A	c.(2233-2235)CGG>AGG	p.R745R	NELL1_uc001mqe.2_Silent_p.R717R|NELL1_uc001mqf.2_Silent_p.R670R|NELL1_uc010rdo.1_Silent_p.R660R|NELL1_uc010rdp.1_Silent_p.R430R|NELL1_uc001mqh.2_Silent_p.R262R	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	717	VWFC 4.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3														0.25	74.51839	81.109389	29	87	KEEP	---	---	---	---	capture		Silent	SNP	21592478	21592478	10732	11	C	A	A	A	399	31	NELL1	1	1
ABTB2	25841	broad.mit.edu	37	11	34218874	34218874	+	Silent	SNP	T	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:34218874T>C	uc001mvl.1	-	c.684A>G	c.(682-684)GAA>GAG	p.E228E		NM_145804	NP_665803	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing	228							DNA binding			central_nervous_system(1)	1		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)												0.255814	66.314287	70.961306	22	64	KEEP	---	---	---	---	capture		Silent	SNP	34218874	34218874	104	11	T	C	C	C	777	60	ABTB2	4	4
LRRC4C	57689	broad.mit.edu	37	11	40136679	40136679	+	Silent	SNP	A	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:40136679A>G	uc001mxa.1	-	c.1164T>C	c.(1162-1164)ACT>ACC	p.T388T	LRRC4C_uc001mxc.1_Silent_p.T384T|LRRC4C_uc001mxd.1_Silent_p.T384T|LRRC4C_uc001mxb.1_Silent_p.T384T	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	netrin-G1 ligand precursor	388	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5		all_lung(304;0.0575)|Lung NSC(402;0.138)												0.253807	138.032734	148.892824	50	147	KEEP	---	---	---	---	capture		Silent	SNP	40136679	40136679	9383	11	A	G	G	G	132	11	LRRC4C	4	4
RRM1	6240	broad.mit.edu	37	11	4132861	4132861	+	Missense_Mutation	SNP	A	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4132861A>C	uc001lyw.3	+	c.478A>C	c.(478-480)AAT>CAT	p.N160H	RRM1_uc009yeh.1_Missense_Mutation_p.N63H|RRM1_uc009yei.2_Missense_Mutation_p.N120H|RRM1_uc010qyc.1_Missense_Mutation_p.N63H	NM_001033	NP_001024	P23921	RIR1_HUMAN	ribonucleoside-diphosphate reductase M1 chain	160					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|oxidation-reduction process	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)								0.294872	77.997121	80.931802	23	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4132861	4132861	14161	11	A	C	C	C	65	5	RRM1	4	4
OR52K1	390036	broad.mit.edu	37	11	4511052	4511052	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4511052C>A	uc001lza.1	+	c.922C>A	c.(922-924)CTA>ATA	p.L308I		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K,	308	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)										0.410256	220.942795	222.319765	80	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4511052	4511052	11533	11	C	A	A	A	415	32	OR52K1	2	2
PTPRJ	5795	broad.mit.edu	37	11	48185982	48185982	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:48185982A>G	uc001ngp.3	+	c.3770A>G	c.(3769-3771)TAC>TGC	p.Y1257C		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1257	Tyrosine-protein phosphatase.|Cytoplasmic (Potential).				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8														0.244681	75.18937	80.763141	23	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48185982	48185982	13261	11	A	G	G	G	182	14	PTPRJ	4	4
OR52R1	119695	broad.mit.edu	37	11	4825233	4825233	+	Nonsense_Mutation	SNP	G	T	T	rs75407816	by1000genomes	TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4825233G>T	uc010qym.1	-	c.615C>A	c.(613-615)TAC>TAA	p.Y205*		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R,	126	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.475248	153.698319	153.751704	48	53	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	4825233	4825233	11541	11	G	T	T	T	516	40	OR52R1	5	1
OR4A47	403253	broad.mit.edu	37	11	48511074	48511074	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:48511074G>T	uc010rhx.1	+	c.730G>T	c.(730-732)GTG>TTG	p.V244L		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A,	244	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.23127	172.175145	192.481653	71	236	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48511074	48511074	11448	11	G	T	T	T	624	48	OR4A47	2	2
OR51B2	79345	broad.mit.edu	37	11	5345399	5345399	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5345399G>T	uc001mao.1	-	c.129C>A	c.(127-129)CTC>CTA	p.L43L	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B,	43	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.182692	31.453601	41.300385	19	85	KEEP	---	---	---	---	capture		Silent	SNP	5345399	5345399	11499	11	G	T	T	T	522	41	OR51B2	2	2
OR4A15	81328	broad.mit.edu	37	11	55135624	55135624	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55135624T>A	uc010rif.1	+	c.265T>A	c.(265-267)TTT>ATT	p.F89I		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	89	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.110465	15.902537	41.724154	19	153	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55135624	55135624	11446	11	T	A	A	A	728	56	OR4A15	3	3
UBQLN3	50613	broad.mit.edu	37	11	5530285	5530285	+	Silent	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5530285C>A	uc001may.1	-	c.504G>T	c.(502-504)GTG>GTT	p.V168V	HBG2_uc001mak.1_Intron	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	168										ovary(3)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		Ovarian(72;684 1260 12332 41642 52180)								0.308824	51.442138	53.661486	21	47	KEEP	---	---	---	---	capture		Silent	SNP	5530285	5530285	17456	11	C	A	A	A	366	29	UBQLN3	2	2
OR4C15	81309	broad.mit.edu	37	11	55322128	55322128	+	Missense_Mutation	SNP	T	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55322128T>G	uc010rig.1	+	c.346T>G	c.(346-348)TTG>GTG	p.L116V		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	62	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.087302	8.653382	52.09235	22	230	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55322128	55322128	11454	11	T	G	G	G	725	56	OR4C15	4	4
OR8H3	390152	broad.mit.edu	37	11	55889871	55889871	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55889871C>A	uc001nii.1	+	c.23C>A	c.(22-24)ACA>AAA	p.T8K		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	8	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)													0.100559	17.206263	45.728746	18	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55889871	55889871	11650	11	C	A	A	A	221	17	OR8H3	2	2
OR8H1	219469	broad.mit.edu	37	11	56058272	56058272	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56058272G>T	uc010rje.1	-	c.267C>A	c.(265-267)AAC>AAA	p.N89K		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H,	89	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)													0.17217	145.996913	189.069732	73	351	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56058272	56058272	11648	11	G	T	T	T	464	36	OR8H1	2	2
OR5M9	390162	broad.mit.edu	37	11	56230358	56230358	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56230358G>T	uc010rjj.1	-	c.520C>A	c.(520-522)CAC>AAC	p.H174N		NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M,	174	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(21;0.00448)													0.390244	89.078451	89.944594	32	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56230358	56230358	11587	11	G	T	T	T	585	45	OR5M9	2	2
OR5M11	219487	broad.mit.edu	37	11	56310500	56310500	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56310500G>T	uc010rjl.1	-	c.234C>A	c.(232-234)ACC>ACA	p.T78T		NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M,	78	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.193798	48.593627	59.888028	25	104	KEEP	---	---	---	---	capture		Silent	SNP	56310500	56310500	11584	11	G	T	T	T	548	43	OR5M11	2	2
SLC43A3	29015	broad.mit.edu	37	11	57193057	57193057	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57193057T>C	uc010rjr.1	-	c.310A>G	c.(310-312)ATC>GTC	p.I104V	PRG2_uc001nke.2_5'Flank|SLC43A3_uc001nkg.2_Missense_Mutation_p.I91V|SLC43A3_uc001nkh.2_Missense_Mutation_p.I91V|SLC43A3_uc009yme.2_Missense_Mutation_p.I91V|SLC43A3_uc001nki.2_Missense_Mutation_p.I91V|SLC43A3_uc009ymf.1_Missense_Mutation_p.I91V|SLC43A3_uc010rjs.1_Missense_Mutation_p.I91V|SLC43A3_uc009ymg.1_Missense_Mutation_p.I104V	NM_199329	NP_955361	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	91	Helical; (Potential).				transmembrane transport	integral to membrane				central_nervous_system(1)	1														0.106383	10.994293	25.442768	10	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57193057	57193057	15131	11	T	C	C	C	663	51	SLC43A3	4	4
OR56B1	387748	broad.mit.edu	37	11	5758106	5758106	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5758106G>T	uc001mbt.1	+	c.360G>T	c.(358-360)GAG>GAT	p.E120D	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|OR56B1_uc001mbs.1_Missense_Mutation_p.E120D|OR56B1_uc009yev.1_Missense_Mutation_p.E120D	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B,	120	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)										0.22619	44.776348	50.56265	19	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5758106	5758106	11547	11	G	T	T	T	464	36	OR56B1	2	2
OR9Q2	219957	broad.mit.edu	37	11	57958655	57958655	+	Silent	SNP	T	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57958655T>C	uc010rka.1	+	c.693T>C	c.(691-693)GCT>GCC	p.A231A		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q,	231	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)|central_nervous_system(1)	4		Breast(21;0.0589)												0.118812	12.345907	26.771074	12	89	KEEP	---	---	---	---	capture		Silent	SNP	57958655	57958655	11667	11	T	C	C	C	704	55	OR9Q2	4	4
GLYATL1	92292	broad.mit.edu	37	11	58715346	58715346	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:58715346T>C	uc001nnh.1	+	c.187T>C	c.(187-189)TAT>CAT	p.Y63H	GLYATL1_uc001nnf.2_Missense_Mutation_p.Y32H|GLYATL1_uc001nni.1_Missense_Mutation_p.Y32H|GLYATL1_uc001nnj.1_Missense_Mutation_p.Y32H	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	32						mitochondrion	glycine N-acyltransferase activity			ovary(1)	1					Glycine(DB00145)									0.243243	84.384054	91.043313	27	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58715346	58715346	6748	11	T	C	C	C	741	57	GLYATL1	4	4
OR4D11	219986	broad.mit.edu	37	11	59271426	59271426	+	Silent	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59271426C>T	uc001noa.1	+	c.378C>T	c.(376-378)ATC>ATT	p.I126I		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D,	126	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2														0.201493	121.205451	143.394826	54	214	KEEP	---	---	---	---	capture		Silent	SNP	59271426	59271426	11462	11	C	T	T	T	408	32	OR4D11	2	2
MS4A7	58475	broad.mit.edu	37	11	60152572	60152572	+	Silent	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60152572C>A	uc001npe.2	+	c.159C>A	c.(157-159)ATC>ATA	p.I53I	MS4A7_uc001npf.2_Silent_p.I53I|MS4A7_uc001npg.2_Intron|MS4A7_uc001nph.2_Intron|MS4A14_uc001npi.2_Intron|MS4A7_uc009ymx.1_Intron	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member	53	Helical; (Potential).					integral to membrane	receptor activity			ovary(1)|central_nervous_system(1)	2														0.211454	95.059687	112.553814	48	179	KEEP	---	---	---	---	capture		Silent	SNP	60152572	60152572	10259	11	C	A	A	A	382	30	MS4A7	2	2
DAK	26007	broad.mit.edu	37	11	61110055	61110055	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:61110055G>T	uc001nre.2	+	c.700G>T	c.(700-702)GCC>TCC	p.A234S	DDB1_uc010rlf.1_5'Flank|DAK_uc009ynm.1_Missense_Mutation_p.A164S	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2	234	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding				0														0.154545	31.316651	43.852415	17	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61110055	61110055	4395	11	G	T	T	T	494	38	DAK	1	1
SPDYC	387778	broad.mit.edu	37	11	64940262	64940262	+	Silent	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:64940262C>A	uc010rnz.1	+	c.624C>A	c.(622-624)GGC>GGA	p.G208G		NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN	speedy C	208					cell cycle	nucleus	protein kinase binding				0														0.302326	65.208333	68.214317	26	60	KEEP	---	---	---	---	capture		Silent	SNP	64940262	64940262	15538	11	C	A	A	A	327	26	SPDYC	2	2
NPAS4	266743	broad.mit.edu	37	11	66191476	66191476	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66191476G>T	uc001ohx.1	+	c.1115G>T	c.(1114-1116)AGC>ATC	p.S372I	NPAS4_uc010rpc.1_Missense_Mutation_p.S162I	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	372					transcription, DNA-dependent		DNA binding|signal transducer activity				0														0.182965	107.966843	137.887945	58	259	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66191476	66191476	10969	11	G	T	T	T	442	34	NPAS4	2	2
DPP3	10072	broad.mit.edu	37	11	66276615	66276615	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66276615C>T	uc001oig.1	+	c.2107C>T	c.(2107-2109)CGT>TGT	p.R703C	DPP3_uc001oif.1_Missense_Mutation_p.R703C|DPP3_uc010rpe.1_Missense_Mutation_p.R692C|DPP3_uc001oih.1_Silent_p.S70S|BBS1_uc001oii.1_5'UTR|BBS1_uc010rpf.1_5'Flank|BBS1_uc010rpg.1_5'Flank|BBS1_uc001oij.1_5'Flank|BBS1_uc001oik.1_5'Flank|BBS1_uc001oil.1_5'Flank	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN	dipeptidyl peptidase III	703					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			ovary(1)	1														0.111111	8.491894	21.94527	10	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66276615	66276615	4912	11	C	T	T	T	351	27	DPP3	1	1
RAD9A	5883	broad.mit.edu	37	11	67161065	67161065	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:67161065G>T	uc001okr.2	+	c.333G>T	c.(331-333)CAG>CAT	p.Q111H	RAD9A_uc001oks.2_5'Flank	NM_004584	NP_004575	Q99638	RAD9A_HUMAN	RAD9 homolog	111					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding				0			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)											0.347826	42.784362	43.72533	16	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67161065	67161065	13455	11	G	T	T	T	438	34	RAD9A	2	2
NLRP14	338323	broad.mit.edu	37	11	7063623	7063623	+	Silent	SNP	T	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7063623T>C	uc001mfb.1	+	c.366T>C	c.(364-366)GAT>GAC	p.D122D		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	122					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|lung(1)|pancreas(1)	7				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)										0.450549	143.376609	143.568508	41	50	KEEP	---	---	---	---	capture		Silent	SNP	7063623	7063623	10879	11	T	C	C	C	660	51	NLRP14	4	4
PDE2A	5138	broad.mit.edu	37	11	72291955	72291955	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:72291955G>C	uc010rrc.1	-	c.2108C>G	c.(2107-2109)ACA>AGA	p.T703R	PDE2A_uc001oso.2_Missense_Mutation_p.T682R|PDE2A_uc010rra.1_Missense_Mutation_p.T696R|PDE2A_uc001osn.2_Missense_Mutation_p.T447R|PDE2A_uc010rrb.1_Missense_Mutation_p.T694R|PDE2A_uc010rrd.1_Missense_Mutation_p.T588R	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	703	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(2)|breast(1)	3			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)									0.164179	24.981751	32.157548	11	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72291955	72291955	12057	11	G	C	C	C	624	48	PDE2A	3	3
SLCO2B1	11309	broad.mit.edu	37	11	74913994	74913994	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:74913994G>T	uc001owb.2	+	c.1812G>T	c.(1810-1812)ATG>ATT	p.M604I	SLCO2B1_uc010rrq.1_Missense_Mutation_p.M349I|SLCO2B1_uc010rrr.1_Missense_Mutation_p.M460I|SLCO2B1_uc010rrs.1_Missense_Mutation_p.M488I|SLCO2B1_uc001owc.2_Missense_Mutation_p.M377I|SLCO2B1_uc001owd.2_Missense_Mutation_p.M582I	NM_007256	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family,	604	Helical; Name=11; (Potential).				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			ovary(1)|breast(1)	2					Ergoloid mesylate(DB01049)									0.123506	44.539797	79.347645	31	220	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74913994	74913994	15224	11	G	T	T	T	624	48	SLCO2B1	2	2
FOLH1B	219595	broad.mit.edu	37	11	89424270	89424270	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:89424270C>T	uc001pda.2	+	c.920C>T	c.(919-921)TCT>TTT	p.S307F		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B	307					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			ovary(3)|central_nervous_system(1)	4														0.14	23.476721	35.995891	14	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89424270	89424270	6222	11	C	T	T	T	416	32	FOLH1B	2	2
MTNR1B	4544	broad.mit.edu	37	11	92714849	92714849	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92714849C>T	uc001pdk.1	+	c.460C>T	c.(460-462)CGC>TGC	p.R154C		NM_005959	NP_005950	P49286	MTR1B_HUMAN	melatonin receptor 1B	154	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)									0.242424	36.464433	40.45971	16	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92714849	92714849	10345	11	C	T	T	T	351	27	MTNR1B	1	1
CNTN5	53942	broad.mit.edu	37	11	99715985	99715985	+	Nonsense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:99715985C>T	uc001pga.2	+	c.568C>T	c.(568-570)CAG>TAG	p.Q190*	CNTN5_uc009ywv.1_Nonsense_Mutation_p.Q190*|CNTN5_uc001pfz.2_Nonsense_Mutation_p.Q190*|CNTN5_uc001pgb.2_Nonsense_Mutation_p.Q116*	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	190	Ig-like C2-type 1.				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				0.1	7.034816	34.228488	17	153	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	99715985	99715985	3782	11	C	T	T	T	325	25	CNTN5	5	2
ANO4	121601	broad.mit.edu	37	12	101437376	101437376	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:101437376C>A	uc010svm.1	+	c.1214C>A	c.(1213-1215)CCA>CAA	p.P405Q	ANO4_uc001thw.2_Missense_Mutation_p.P370Q|ANO4_uc001thx.2_Missense_Mutation_p.P405Q	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	405	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(4)	4														0.185567	37.48817	46.48168	18	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101437376	101437376	707	12	C	A	A	A	273	21	ANO4	2	2
SLC5A8	160728	broad.mit.edu	37	12	101581208	101581208	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:101581208C>A	uc001thz.3	-	c.919G>T	c.(919-921)GAC>TAC	p.D307Y		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	solute carrier family 5 (iodide transporter),	307	Extracellular (Potential).				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity				0						GBM(60;420 1056 13605 22380 47675)								0.450704	90.585096	90.73602	32	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101581208	101581208	15168	12	C	A	A	A	377	29	SLC5A8	2	2
SLC5A8	160728	broad.mit.edu	37	12	101584289	101584289	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:101584289C>G	uc001thz.3	-	c.790G>C	c.(790-792)GTG>CTG	p.V264L		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	solute carrier family 5 (iodide transporter),	264	Cytoplasmic (Potential).				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity				0						GBM(60;420 1056 13605 22380 47675)								0.092199	12.861675	36.470832	13	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101584289	101584289	15168	12	C	G	G	G	234	18	SLC5A8	3	3
STAB2	55576	broad.mit.edu	37	12	104125389	104125389	+	Silent	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:104125389C>T	uc001tjw.2	+	c.5259C>T	c.(5257-5259)TAC>TAT	p.Y1753Y	STAB2_uc009zug.2_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	1753	Extracellular (Potential).|FAS1 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(1)	10														0.333333	84.094354	86.44297	32	64	KEEP	---	---	---	---	capture		Silent	SNP	104125389	104125389	15756	12	C	T	T	T	220	17	STAB2	2	2
TAS2R14	50840	broad.mit.edu	37	12	11091741	11091741	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:11091741T>A	uc010shi.1	-	c.66A>T	c.(64-66)TTA>TTT	p.L22F	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_023922	NP_076411	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	22	Helical; Name=1; (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	integral to membrane	bitter taste receptor activity				0														0.128571	11.225615	20.63767	9	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11091741	11091741	16090	12	T	A	A	A	686	53	TAS2R14	3	3
HVCN1	84329	broad.mit.edu	37	12	111088015	111088015	+	Silent	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:111088015C>T	uc001trs.1	-	c.714G>A	c.(712-714)TTG>TTA	p.L238L	HVCN1_uc001trq.1_Silent_p.L238L|HVCN1_uc001trt.1_Silent_p.L238L|HVCN1_uc010syd.1_Silent_p.L218L	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	238	Cytoplasmic (Potential).|Potential.				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity				0														0.4375	143.259644	143.640616	49	63	KEEP	---	---	---	---	capture		Silent	SNP	111088015	111088015	7762	12	C	T	T	T	272	21	HVCN1	2	2
MED13L	23389	broad.mit.edu	37	12	116420924	116420924	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:116420924C>A	uc001tvw.2	-	c.4953G>T	c.(4951-4953)GAG>GAT	p.E1651D		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1651					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		RNA polymerase II transcription mediator activity			skin(3)|ovary(1)|lung(1)	5	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)					p.E1651E(KASUMI1-Tumor)	497				0.567568	180.218026	180.656711	63	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116420924	116420924	9820	12	C	A	A	A	415	32	MED13L	2	2
AACS	65985	broad.mit.edu	37	12	125618604	125618604	+	Silent	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:125618604C>T	uc001uhc.2	+	c.1605C>T	c.(1603-1605)GTC>GTT	p.V535V	AACS_uc001uhd.2_Silent_p.V535V|AACS_uc009zyh.2_Non-coding_Transcript|AACS_uc009zyi.2_Silent_p.V133V	NM_023928	NP_076417	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	535					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			ovary(1)|liver(1)|central_nervous_system(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)										0.178571	8.756261	11.481624	5	23	KEEP	---	---	---	---	capture		Silent	SNP	125618604	125618604	10	12	C	T	T	T	366	29	AACS	2	2
TMEM132D	121256	broad.mit.edu	37	12	129822241	129822241	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:129822241A>T	uc009zyl.1	-	c.1237T>A	c.(1237-1239)TTG>ATG	p.L413M		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	413	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)	12	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)										0.085409	-3.219626	45.785765	24	257	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129822241	129822241	16579	12	A	T	T	T	37	3	TMEM132D	3	3
TMEM132D	121256	broad.mit.edu	37	12	130185164	130185164	+	Silent	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:130185164G>A	uc009zyl.1	-	c.159C>T	c.(157-159)ATC>ATT	p.I53I		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	53	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)	12	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)										0.160494	20.81666	29.711937	13	68	KEEP	---	---	---	---	capture		Silent	SNP	130185164	130185164	16579	12	G	A	A	A	577	45	TMEM132D	2	2
OVCH1	341350	broad.mit.edu	37	12	29648297	29648297	+	Silent	SNP	A	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:29648297A>T	uc001rix.1	-	c.375T>A	c.(373-375)ATT>ATA	p.I125I		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	125	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)													0.582353	284.524198	285.528032	99	71	KEEP	---	---	---	---	capture		Silent	SNP	29648297	29648297	11736	12	A	T	T	T	164	13	OVCH1	3	3
TMTC1	83857	broad.mit.edu	37	12	29709830	29709830	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:29709830G>T	uc001rjb.2	-	c.1312C>A	c.(1312-1314)CAG>AAG	p.Q438K	TMTC1_uc001riz.2_Missense_Mutation_p.Q195K|TMTC1_uc001rja.2_Missense_Mutation_p.Q282K|TMTC1_uc001rjc.1_Missense_Mutation_p.Q500K	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	438	TPR 2.					integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)													0.247619	66.093756	72.183055	26	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29709830	29709830	16801	12	G	T	T	T	624	48	TMTC1	2	2
SLC2A13	114134	broad.mit.edu	37	12	40158324	40158324	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:40158324C>A	uc010skm.1	-	c.1658G>T	c.(1657-1659)TGG>TTG	p.W553L	C12orf40_uc009zjv.1_Intron	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose	553	Helical; Name=11; (Potential).					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			ovary(1)	1		Lung NSC(34;0.105)|all_lung(34;0.123)												0.283465	91.658962	96.999804	36	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40158324	40158324	15039	12	C	A	A	A	273	21	SLC2A13	2	2
PDZRN4	29951	broad.mit.edu	37	12	41967276	41967276	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:41967276C>G	uc010skn.1	+	c.2098C>G	c.(2098-2100)CGG>GGG	p.R700G	PDZRN4_uc001rmq.3_Missense_Mutation_p.R641G|PDZRN4_uc009zjz.2_Missense_Mutation_p.R639G|PDZRN4_uc001rmr.2_Missense_Mutation_p.R526G	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	899							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				0.170886	66.091889	82.222143	27	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41967276	41967276	12131	12	C	G	G	G	243	19	PDZRN4	3	3
TMEM117	84216	broad.mit.edu	37	12	44605102	44605102	+	Silent	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:44605102C>A	uc001rod.2	+	c.540C>A	c.(538-540)CCC>CCA	p.P180P	TMEM117_uc001roe.2_Silent_p.P76P|TMEM117_uc009zkc.2_Silent_p.P180P	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	transmembrane protein 117	180						endoplasmic reticulum|integral to membrane					0	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)										0.189189	29.311796	35.995603	14	60	KEEP	---	---	---	---	capture		Silent	SNP	44605102	44605102	16562	12	C	A	A	A	301	24	TMEM117	2	2
FAM113B	91523	broad.mit.edu	37	12	47629393	47629393	+	Silent	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:47629393C>A	uc001rpn.2	+	c.547C>A	c.(547-549)CGG>AGG	p.R183R	FAM113B_uc010slj.1_Silent_p.R63R|FAM113B_uc001rpq.2_Silent_p.R183R	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	hypothetical protein LOC91523	183							hydrolase activity			ovary(2)	2	Renal(347;0.138)|Lung SC(27;0.192)													0.5	73.841624	73.841624	23	23	KEEP	---	---	---	---	capture		Silent	SNP	47629393	47629393	5599	12	C	A	A	A	347	27	FAM113B	1	1
TFCP2	7024	broad.mit.edu	37	12	51500371	51500371	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:51500371T>A	uc001rxw.2	-	c.854A>T	c.(853-855)TAT>TTT	p.Y285F	TFCP2_uc001rxv.1_Missense_Mutation_p.Y285F|TFCP2_uc009zlx.1_Missense_Mutation_p.Y234F|TFCP2_uc001rxx.2_Missense_Mutation_p.Y285F|TFCP2_uc009zly.1_Missense_Mutation_p.Y187F	NM_005653	NP_005644	Q12800	TFCP2_HUMAN	transcription factor CP2	285	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.22449	26.301947	29.718409	11	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51500371	51500371	16323	12	T	A	A	A	637	49	TFCP2	3	3
KRT72	140807	broad.mit.edu	37	12	52985302	52985302	+	Silent	SNP	G	A	A	rs112771714		TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52985302G>A	uc001sar.2	-	c.909C>T	c.(907-909)TAC>TAT	p.Y303Y	KRT72_uc001saq.2_Silent_p.Y303Y|KRT72_uc010sns.1_Silent_p.Y303Y|KRT72_uc010snt.1_Silent_p.Y115Y	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN	keratin 72 isoform 1	303	Coil 2.|Rod.					keratin filament	structural molecule activity			ovary(5)|pancreas(1)	6				BRCA - Breast invasive adenocarcinoma(357;0.195)										0.102273	4.814965	18.690973	9	79	KEEP	---	---	---	---	capture		Silent	SNP	52985302	52985302	8800	12	G	A	A	A	516	40	KRT72	1	1
NTF3	4908	broad.mit.edu	37	12	5603588	5603588	+	Silent	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:5603588C>A	uc001qnk.3	+	c.247C>A	c.(247-249)CGA>AGA	p.R83R	NTF3_uc001qnl.3_Silent_p.R70R	NM_001102654	NP_001096124	P20783	NTF3_HUMAN	neurotrophin 3 isoform 1 preproprotein	70					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			pancreas(1)	1						GBM(194;1104 2182 8339 9578 18493)								0.097744	9.080748	30.621557	13	120	KEEP	---	---	---	---	capture		Silent	SNP	5603588	5603588	11101	12	C	A	A	A	295	23	NTF3	1	1
LRP1	4035	broad.mit.edu	37	12	57572789	57572789	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57572789A>T	uc001snd.2	+	c.4723A>T	c.(4723-4725)AAC>TAC	p.N1575Y		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1575	EGF-like 7.|Extracellular (Potential).				apoptotic cell clearance|multicellular organismal development|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein particle receptor binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(7)|large_intestine(2)|pancreas(2)|skin(1)|central_nervous_system(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)					1456				0.473373	210.683902	210.793991	80	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57572789	57572789	9324	12	A	T	T	T	65	5	LRP1	3	3
ARHGAP9	64333	broad.mit.edu	37	12	57869642	57869642	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57869642C>A	uc001sod.2	-	c.1498G>T	c.(1498-1500)GCG>TCG	p.A500S	ARHGAP9_uc001sny.2_5'Flank|ARHGAP9_uc001snz.2_Missense_Mutation_p.A245S|ARHGAP9_uc001soa.2_Missense_Mutation_p.A99S|ARHGAP9_uc001sob.2_Missense_Mutation_p.A429S|ARHGAP9_uc001soc.2_Missense_Mutation_p.A429S|ARHGAP9_uc001soe.1_Missense_Mutation_p.A508S	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9 isoform 1	429	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			lung(1)	1			GBM - Glioblastoma multiforme(3;3.37e-34)											0.209302	18.254497	21.616732	9	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57869642	57869642	903	12	C	A	A	A	351	27	ARHGAP9	1	1
OS9	10956	broad.mit.edu	37	12	58089584	58089584	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:58089584G>A	uc001spj.2	+	c.361G>A	c.(361-363)GAA>AAA	p.E121K	OS9_uc010srx.1_Missense_Mutation_p.E121K|OS9_uc001spk.2_Missense_Mutation_p.E121K|OS9_uc001spl.2_Missense_Mutation_p.E121K|OS9_uc001spm.2_Missense_Mutation_p.E121K|OS9_uc001spn.2_Missense_Mutation_p.E121K|OS9_uc010sry.1_Missense_Mutation_p.E121K|OS9_uc010srz.1_Missense_Mutation_p.E62K	NM_006812	NP_006803	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum	121	PRKCSH.				ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			ovary(1)	1	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)											0.216374	79.868106	92.571217	37	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58089584	58089584	11683	12	G	A	A	A	585	45	OS9	2	2
VWF	7450	broad.mit.edu	37	12	6167018	6167018	+	Missense_Mutation	SNP	T	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6167018T>G	uc001qnn.1	-	c.1726A>C	c.(1726-1728)ATG>CTG	p.M576L	VWF_uc010set.1_Missense_Mutation_p.M576L	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	576	VWFD 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			ovary(3)|pancreas(2)|breast(1)|central_nervous_system(1)	7					Antihemophilic Factor(DB00025)									0.131098	85.0295	128.394287	43	285	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6167018	6167018	17818	12	T	G	G	G	663	51	VWF	4	4
SRGAP1	57522	broad.mit.edu	37	12	64456851	64456851	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:64456851T>C	uc010ssp.1	+	c.956T>C	c.(955-957)ATG>ACG	p.M319T	SRGAP1_uc001srt.2_Missense_Mutation_p.M319T|SRGAP1_uc001srv.2_Missense_Mutation_p.M279T	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	319					axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)										0.507937	218.001219	218.008154	64	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64456851	64456851	15659	12	T	C	C	C	663	51	SRGAP1	4	4
MLF2	8079	broad.mit.edu	37	12	6861144	6861144	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6861144T>A	uc010sfi.1	-	c.127A>T	c.(127-129)ATC>TTC	p.I43F	MLF2_uc001qqp.2_Missense_Mutation_p.I43F|MLF2_uc009zey.1_Missense_Mutation_p.I43F	NM_005439	NP_005430	Q15773	MLF2_HUMAN	myeloid leukemia factor 2	43					defense response	cytoplasm|nucleus	protein binding			large_intestine(1)	1												OREG0021633	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.086207	7.158929	47.37523	20	212	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6861144	6861144	10006	12	T	A	A	A	663	51	MLF2	3	3
LEPREL2	10536	broad.mit.edu	37	12	6939836	6939836	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6939836G>T	uc001qra.1	+	c.887G>T	c.(886-888)CGC>CTC	p.R296L	LEPREL2_uc001qqz.1_Missense_Mutation_p.R103L|LEPREL2_uc001qrb.1_Missense_Mutation_p.R103L	NM_014262	NP_055077	Q8IVL6	P3H3_HUMAN	leprecan-like 2 precursor	296					negative regulation of cell proliferation|oxidation-reduction process	endoplasmic reticulum	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity				0					L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)									0.210526	17.283433	20.227076	8	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6939836	6939836	9055	12	G	T	T	T	494	38	LEPREL2	1	1
BEST3	144453	broad.mit.edu	37	12	70049505	70049505	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:70049505G>A	uc001svg.2	-	c.1189C>T	c.(1189-1191)CGG>TGG	p.R397W	BEST3_uc001svd.1_Intron|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Missense_Mutation_p.R184W|BEST3_uc010stm.1_Missense_Mutation_p.R291W	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	vitelliform macular dystrophy 2-like 3 isoform	397	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)											0.497409	271.906948	271.906843	96	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70049505	70049505	1429	12	G	A	A	A	493	38	BEST3	1	1
CD163L1	283316	broad.mit.edu	37	12	7586276	7586276	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:7586276C>G	uc010sge.1	-	c.139G>C	c.(139-141)GAG>CAG	p.E47Q	CD163L1_uc001qsy.2_Missense_Mutation_p.E47Q	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	47	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|central_nervous_system(1)	9														0.132911	43.179305	63.836707	21	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7586276	7586276	3095	12	C	G	G	G	390	30	CD163L1	3	3
CD163	9332	broad.mit.edu	37	12	7654058	7654059	+	Splice_Site_DNP	DNP	CC	AA	AA			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:7654058_7654059CC>AA	uc001qsz.3	-	c.134_splice	c.e3-1	p.G45_splice	CD163_uc001qta.3_Splice_Site_DNP_p.G45_splice|CD163_uc009zfw.2_Splice_Site_DNP_p.G45_splice	NM_004244	NP_004235			CD163 antigen isoform a						acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8														0.105556	17.308032	45.123314	19	161	KEEP	---	---	---	---	capture		Splice_Site_DNP	DNP	7654058	7654059	3094	12	CC	AA	AA	AA	390	30	CD163	5	2
CLEC4A	50856	broad.mit.edu	37	12	8289466	8289466	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:8289466G>T	uc001qtz.1	+	c.533G>T	c.(532-534)TGG>TTG	p.W178L	CLEC4A_uc009zga.1_Missense_Mutation_p.W139L|CLEC4A_uc001qub.1_Missense_Mutation_p.W145L|CLEC4A_uc001quc.1_Missense_Mutation_p.W106L|CLEC4A_uc009zgb.1_Missense_Mutation_p.M94I	NM_016184	NP_057268	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A isoform	178	Extracellular (Potential).|C-type lectin.				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity				0				Kidney(36;0.0915)										0.169811	33.17754	44.119783	18	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8289466	8289466	3650	12	G	T	T	T	611	47	CLEC4A	2	2
MFAP5	8076	broad.mit.edu	37	12	8813495	8813495	+	Splice_Site_SNP	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:8813495C>A	uc001qut.1	-	c.59_splice	c.e3-1	p.D20_splice	MFAP5_uc001qus.2_Splice_Site_SNP_p.D20_splice|MFAP5_uc009zge.1_Splice_Site_SNP_p.D20_splice	NM_003480	NP_003471			microfibrillar associated protein 5 precursor							microfibril	extracellular matrix structural constituent			breast(1)	1	Lung SC(5;0.184)													0.234043	25.29802	28.342534	11	36	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	8813495	8813495	9908	12	C	A	A	A	416	32	MFAP5	5	2
ANKS1B	56899	broad.mit.edu	37	12	99478723	99478723	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:99478723C>A	uc001tge.1	-	c.2605G>T	c.(2605-2607)GCA>TCA	p.A869S	ANKS1B_uc001tgf.1_Missense_Mutation_p.A445S|ANKS1B_uc001tgk.2_Missense_Mutation_p.A166S|ANKS1B_uc001tgd.1_Missense_Mutation_p.A95S|ANKS1B_uc001tgi.2_Missense_Mutation_p.A95S|ANKS1B_uc009ztr.2_Missense_Mutation_p.A95S|ANKS1B_uc001tgj.2_Missense_Mutation_p.A95S|ANKS1B_uc001tgg.3_Missense_Mutation_p.A38S|ANKS1B_uc010svg.1_Missense_Mutation_p.A64S|ANKS1B_uc009zts.1_Missense_Mutation_p.A95S|ANKS1B_uc001tgm.1_Missense_Mutation_p.A95S	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	869	SAM 1.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)										0.35	18.9166	19.314678	7	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99478723	99478723	697	12	C	A	A	A	338	26	ANKS1B	2	2
COL4A1	1282	broad.mit.edu	37	13	110831280	110831280	+	Silent	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:110831280C>A	uc001vqw.3	-	c.2448G>T	c.(2446-2448)CCG>CCT	p.P816P	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	816	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)											0.25	12.364499	13.501434	5	15	KEEP	---	---	---	---	capture		Silent	SNP	110831280	110831280	3827	13	C	A	A	A	288	23	COL4A1	1	1
COL4A2	1284	broad.mit.edu	37	13	111082234	111082234	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:111082234G>T	uc001vqx.2	+	c.480G>T	c.(478-480)GGG>GGT	p.G160G		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	160					angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			central_nervous_system(2)|ovary(1)	3	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)											0.309091	40.850519	42.639298	17	38	KEEP	---	---	---	---	capture		Silent	SNP	111082234	111082234	3828	13	G	T	T	T	535	42	COL4A2	2	2
F10	2159	broad.mit.edu	37	13	113803629	113803629	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:113803629C>T	uc001vsx.2	+	c.1265C>T	c.(1264-1266)CCG>CTG	p.P422L	F10_uc001vsy.2_3'UTR|F10_uc001vsz.2_3'UTR	NM_000504	NP_000495	P00742	FA10_HUMAN	coagulation factor X preproprotein	422	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|intrinsic to external side of plasma membrane	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			pancreas(1)	1	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.335937	113.386314	116.434007	43	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113803629	113803629	5530	13	C	T	T	T	299	23	F10	1	1
MTMR6	9107	broad.mit.edu	37	13	25840328	25840328	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:25840328T>C	uc001uqf.3	-	c.401A>G	c.(400-402)TAT>TGT	p.Y134C	MTMR6_uc001uqe.1_Missense_Mutation_p.Y134C	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	134	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)	2		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)										0.384615	51.819373	52.273379	15	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25840328	25840328	10340	13	T	C	C	C	637	49	MTMR6	4	4
ATP8A2	51761	broad.mit.edu	37	13	26535737	26535737	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:26535737C>T	uc001uqk.2	+	c.3208C>T	c.(3208-3210)CAC>TAC	p.H1070Y	ATP8A2_uc010tdi.1_Missense_Mutation_p.H1005Y|ATP8A2_uc010tdj.1_Non-coding_Transcript	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	1030	Helical; (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)	3		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)										0.263158	82.352101	89.109409	35	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26535737	26535737	1212	13	C	T	T	T	221	17	ATP8A2	2	2
FRY	10129	broad.mit.edu	37	13	32836597	32836597	+	Silent	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:32836597T>A	uc001utx.2	+	c.7764T>A	c.(7762-7764)ATT>ATA	p.I2588I	FRY_uc010tdw.1_Non-coding_Transcript|FRY_uc001uty.2_Silent_p.I143I|FRY_uc001utz.2_Silent_p.I113I|FRY_uc010tdx.1_5'Flank	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2588					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)	6		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)										0.268519	72.239384	77.455657	29	79	KEEP	---	---	---	---	capture		Silent	SNP	32836597	32836597	6313	13	T	A	A	A	822	64	FRY	3	3
FAM124A	220108	broad.mit.edu	37	13	51854668	51854668	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:51854668C>T	uc001vff.1	+	c.1025C>T	c.(1024-1026)CCG>CTG	p.P342L	FAM124A_uc001vfg.1_Missense_Mutation_p.P306L	NM_145019	NP_659456	Q86V42	F124A_HUMAN	hypothetical protein LOC220108	306										central_nervous_system(1)	1		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)										0.162791	14.335591	18.952522	7	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51854668	51854668	5622	13	C	T	T	T	299	23	FAM124A	1	1
PCDH17	27253	broad.mit.edu	37	13	58207106	58207106	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:58207106G>T	uc001vhq.1	+	c.426G>T	c.(424-426)TCG>TCT	p.S142S	PCDH17_uc010aec.1_Silent_p.S142S	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	142	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(2)|pancreas(2)	4		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		Melanoma(72;952 1291 1619 12849 33676)								0.5	51.773717	51.773717	17	17	KEEP	---	---	---	---	capture		Silent	SNP	58207106	58207106	11932	13	G	T	T	T	496	39	PCDH17	1	1
KLF12	11278	broad.mit.edu	37	13	74289627	74289627	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:74289627C>T	uc001vjf.2	-	c.905G>A	c.(904-906)CGC>CAC	p.R302H	KLF12_uc010aeq.2_Missense_Mutation_p.R302H	NM_007249	NP_009180	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	302					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)										0.160377	27.221354	38.853468	17	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74289627	74289627	8652	13	C	T	T	T	351	27	KLF12	1	1
AHNAK2	113146	broad.mit.edu	37	14	105420104	105420104	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105420104T>C	uc010axc.1	-	c.1684A>G	c.(1684-1686)AGG>GGG	p.R562G	AHNAK2_uc001ypx.2_Missense_Mutation_p.R462G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	562						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)											0.082969	27.031083	107.964798	38	420	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105420104	105420104	418	14	T	C	C	C	700	54	AHNAK2	4	4
SLC7A7	9056	broad.mit.edu	37	14	23249156	23249156	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23249156C>A	uc001wgr.3	-	c.604G>T	c.(604-606)GGC>TGC	p.G202C	SLC7A7_uc001wgs.3_Missense_Mutation_p.G202C|SLC7A7_uc001wgt.3_Missense_Mutation_p.G202C|SLC7A7_uc001wgu.3_Missense_Mutation_p.G202C|SLC7A7_uc001wgv.3_Missense_Mutation_p.G202C	NM_003982	NP_003973	Q9UM01	YLAT1_HUMAN	solute carrier family 7 member 7	202	Helical; (Potential).				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			ovary(1)|breast(1)	2	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)										0.090164	2.123503	22.811259	11	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23249156	23249156	15200	14	C	A	A	A	312	24	SLC7A7	2	2
JPH4	84502	broad.mit.edu	37	14	24040242	24040242	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24040242G>T	uc001wkq.2	-	c.1698C>A	c.(1696-1698)CCC>CCA	p.P566P	AP1G2_uc001wkl.2_5'Flank|AP1G2_uc001wkn.2_5'Flank|AP1G2_uc010tnp.1_5'Flank|AP1G2_uc010akt.2_5'Flank|JPH4_uc010tnr.1_Silent_p.P231P|JPH4_uc001wkr.2_Silent_p.P566P	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	junctophilin 4	566	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				ovary(1)|pancreas(1)	2	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)										0.183673	33.790479	43.001695	18	80	KEEP	---	---	---	---	capture		Silent	SNP	24040242	24040242	8267	14	G	T	T	T	600	47	JPH4	2	2
RABGGTA	5875	broad.mit.edu	37	14	24738353	24738353	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24738353C>G	uc001wof.2	-	c.648G>C	c.(646-648)CAG>CAC	p.Q216H	RABGGTA_uc001woe.2_Non-coding_Transcript|RABGGTA_uc001wog.2_Missense_Mutation_p.Q216H|RABGGTA_uc001woh.2_Non-coding_Transcript|RABGGTA_uc001woi.2_Non-coding_Transcript	NM_004581	NP_004572	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase alpha	216	PFTA 5.				visual perception		Rab geranylgeranyltransferase activity|zinc ion binding				0				GBM - Glioblastoma multiforme(265;0.0184)										0.166667	9.884478	12.412662	4	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24738353	24738353	13426	14	C	G	G	G	415	32	RABGGTA	3	3
FRMD6	122786	broad.mit.edu	37	14	52186887	52186887	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:52186887G>T	uc001wzd.2	+	c.1139G>T	c.(1138-1140)CGC>CTC	p.R380L	FRMD6_uc001wzb.2_Missense_Mutation_p.R372L|FRMD6_uc001wzc.2_Missense_Mutation_p.R372L|FRMD6_uc001wze.2_Missense_Mutation_p.R303L|FRMD6_uc001wzf.2_Missense_Mutation_p.R73L|FRMD6_uc001wzg.2_Missense_Mutation_p.R22L	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	380						cytoskeleton|mitochondrion|plasma membrane	binding			ovary(1)|central_nervous_system(1)	2	all_epithelial(31;0.0163)|Breast(41;0.089)													0.466667	64.769335	64.81287	21	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52186887	52186887	6304	14	G	T	T	T	494	38	FRMD6	1	1
SLC8A3	6547	broad.mit.edu	37	14	70633906	70633906	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:70633906C>A	uc001xly.2	-	c.1234G>T	c.(1234-1236)GGG>TGG	p.G412W	SLC8A3_uc001xlw.2_Missense_Mutation_p.G412W|SLC8A3_uc001xlx.2_Missense_Mutation_p.G412W|SLC8A3_uc001xlz.2_Missense_Mutation_p.G412W|SLC8A3_uc010ara.2_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	412	Calx-beta 1.|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)										0.152	31.934967	46.435683	19	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70633906	70633906	15205	14	C	A	A	A	273	21	SLC8A3	2	2
PCNX	22990	broad.mit.edu	37	14	71524403	71524403	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:71524403G>C	uc001xmo.2	+	c.4814G>C	c.(4813-4815)GGT>GCT	p.G1605A	PCNX_uc010are.1_Missense_Mutation_p.G1494A|PCNX_uc010arf.1_Intron	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	1605						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)										0.124294	90.97019	139.789319	44	310	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71524403	71524403	12011	14	G	C	C	C	572	44	PCNX	3	3
C14orf43	91748	broad.mit.edu	37	14	74206175	74206175	+	Silent	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:74206175C>A	uc010tud.1	-	c.537G>T	c.(535-537)GTG>GTT	p.V179V	C14orf43_uc001xot.2_Silent_p.V179V|C14orf43_uc001xou.2_Silent_p.V179V|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|central_nervous_system(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)										0.137405	25.898755	42.532995	18	113	KEEP	---	---	---	---	capture		Silent	SNP	74206175	74206175	1824	14	C	A	A	A	314	25	C14orf43	2	2
C14orf145	145508	broad.mit.edu	37	14	81227931	81227931	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:81227931C>G	uc001xux.2	-	c.2403G>C	c.(2401-2403)GAG>GAC	p.E801D	C14orf145_uc010asz.1_Non-coding_Transcript	NM_152446	NP_689659	Q6ZU80	CN145_HUMAN	hypothetical protein LOC145508	801	Potential.									central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0586)						1				0.301887	99.311245	103.057974	32	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81227931	81227931	1797	14	C	G	G	G	363	28	C14orf145	3	3
RIN3	79890	broad.mit.edu	37	14	93118589	93118589	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:93118589G>T	uc001yap.2	+	c.1195G>T	c.(1195-1197)GAC>TAC	p.D399Y	RIN3_uc010auk.2_Missense_Mutation_p.D61Y|RIN3_uc001yaq.2_Missense_Mutation_p.D324Y|RIN3_uc001yar.1_Missense_Mutation_p.D61Y|RIN3_uc001yas.1_Missense_Mutation_p.D61Y	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	399	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding				0		all_cancers(154;0.0701)												0.163636	13.837631	19.754097	9	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93118589	93118589	13850	14	G	T	T	T	429	33	RIN3	2	2
HERC2	8924	broad.mit.edu	37	15	28359782	28359782	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:28359782T>C	uc001zbj.2	-	c.13889A>G	c.(13888-13890)TAC>TGC	p.Y4630C	HERC2_uc001zbi.2_Missense_Mutation_p.Y319C	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	4630	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of mitotic metaphase/anaphase transition	anaphase-promoting complex	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(2)|central_nervous_system(1)	11		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)						1580				0.359375	74.111905	75.224121	23	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28359782	28359782	7341	15	T	C	C	C	741	57	HERC2	4	4
TRPM1	4308	broad.mit.edu	37	15	31324994	31324994	+	Silent	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:31324994C>A	uc001zfm.2	-	c.2784G>T	c.(2782-2784)CGG>CGT	p.R928R	TRPM1_uc010azy.2_Silent_p.R835R|TRPM1_uc001zfl.2_Non-coding_Transcript	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	928	Cytoplasmic (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)										0.327434	97.330111	100.317658	37	76	KEEP	---	---	---	---	capture		Silent	SNP	31324994	31324994	17136	15	C	A	A	A	275	22	TRPM1	2	2
AQR	9716	broad.mit.edu	37	15	35168171	35168171	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:35168171G>T	uc001ziv.2	-	c.3202C>A	c.(3202-3204)CTG>ATG	p.L1068M		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	1068					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)										0.163265	11.764262	17.051204	8	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35168171	35168171	846	15	G	T	T	T	425	33	AQR	2	2
MGA	23269	broad.mit.edu	37	15	42042588	42042588	+	Silent	SNP	A	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:42042588A>G	uc010ucy.1	+	c.6783A>G	c.(6781-6783)GCA>GCG	p.A2261A	MGA_uc010ucz.1_Silent_p.A2052A|MGA_uc010uda.1_Silent_p.A877A|MGA_uc001zoi.2_Silent_p.A475A	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	2222	Basic motif.				regulation of transcription, DNA-dependent	MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|skin(1)	11		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)						606				0.178571	23.916938	29.362162	10	46	KEEP	---	---	---	---	capture		Silent	SNP	42042588	42042588	9930	15	A	G	G	G	54	5	MGA	4	4
CASC4	113201	broad.mit.edu	37	15	44581416	44581416	+	Silent	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:44581416G>A	uc001ztp.2	+	c.189G>A	c.(187-189)CTG>CTA	p.L63L	CASC4_uc001ztq.2_Silent_p.L63L|CASC4_uc010bdu.1_Non-coding_Transcript|CASC4_uc001zto.1_Silent_p.L63L	NM_138423	NP_612432	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4 isoform a	63	Lumenal (Potential).|Potential.					integral to membrane				ovary(1)	1		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)										0.178571	19.316457	24.764597	10	46	KEEP	---	---	---	---	capture		Silent	SNP	44581416	44581416	2781	15	G	A	A	A	600	47	CASC4	2	2
SHF	90525	broad.mit.edu	37	15	45491056	45491056	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:45491056C>T	uc001zuy.2	-	c.217G>A	c.(217-219)GGG>AGG	p.G73R		NM_138356	NP_612365	B3KTY1	B3KTY1_HUMAN	Src homology 2 domain containing F	73										ovary(1)	1		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)								OREG0023105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.283105	146.938405	156.206033	62	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45491056	45491056	14769	15	C	T	T	T	273	21	SHF	2	2
SLC12A1	6557	broad.mit.edu	37	15	48539564	48539564	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:48539564C>A	uc001zwn.3	+	c.1591C>A	c.(1591-1593)CTG>ATG	p.L531M	SLC12A1_uc010uew.1_Missense_Mutation_p.L337M|SLC12A1_uc010bem.2_Missense_Mutation_p.L531M|SLC12A1_uc001zwq.3_Missense_Mutation_p.L302M|SLC12A1_uc001zwr.3_Missense_Mutation_p.L258M	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	531	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)									0.15625	16.605867	23.828783	10	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48539564	48539564	14877	15	C	A	A	A	311	24	SLC12A1	2	2
MYO5A	4644	broad.mit.edu	37	15	52646197	52646197	+	Silent	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:52646197C>T	uc002aby.2	-	c.3438G>A	c.(3436-3438)AAG>AAA	p.K1146K	MYO5A_uc002abx.3_Silent_p.K1146K|MYO5A_uc010ugd.1_5'Flank|MYO5A_uc002aca.1_5'Flank|MYO5A_uc002acb.1_5'Flank|MYO5A_uc002acc.1_5'Flank	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	1146	Potential.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)										0.127907	16.661626	28.269451	11	75	KEEP	---	---	---	---	capture		Silent	SNP	52646197	52646197	10473	15	C	T	T	T	415	32	MYO5A	2	2
PARP16	54956	broad.mit.edu	37	15	65559014	65559014	+	Silent	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:65559014G>A	uc002aoq.2	-	c.405C>T	c.(403-405)AAC>AAT	p.N135N	PARP16_uc002aoo.2_Silent_p.N135N|PARP16_uc002aop.2_Intron	NM_017851	NP_060321	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	135	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity				0						NSCLC(50;885 1163 13509 21242 41978)								0.328571	61.298059	63.123552	23	47	KEEP	---	---	---	---	capture		Silent	SNP	65559014	65559014	11877	15	G	A	A	A	516	40	PARP16	1	1
IGDCC4	57722	broad.mit.edu	37	15	65681620	65681620	+	Splice_Site_SNP	SNP	A	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:65681620A>G	uc002aou.1	-	c.2536_splice	c.e14+1	p.R846_splice	IGDCC4_uc002aot.1_Splice_Site_SNP_p.R434_splice	NM_020962	NP_066013			immunoglobulin superfamily, DCC subclass, member							integral to membrane|plasma membrane				ovary(1)|pancreas(1)	2														0.185185	10.860103	13.368621	5	22	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	65681620	65681620	7870	15	A	G	G	G	78	6	IGDCC4	5	4
LARP6	55323	broad.mit.edu	37	15	71124814	71124814	+	Silent	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:71124814C>T	uc002ass.2	-	c.1053G>A	c.(1051-1053)GCG>GCA	p.A351A		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	351					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0														0.188406	25.225672	31.509274	13	56	KEEP	---	---	---	---	capture		Silent	SNP	71124814	71124814	8955	15	C	T	T	T	288	23	LARP6	1	1
KIAA1024	23251	broad.mit.edu	37	15	79748634	79748634	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:79748634G>C	uc002bew.1	+	c.145G>C	c.(145-147)GTG>CTG	p.V49L	KIAA1024_uc010unk.1_Missense_Mutation_p.V49L	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	49						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4														0.112069	17.330641	34.541544	13	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79748634	79748634	8512	15	G	C	C	C	624	48	KIAA1024	3	3
ALPK3	57538	broad.mit.edu	37	15	85383141	85383141	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:85383141G>T	uc002ble.2	+	c.1237G>T	c.(1237-1239)GAC>TAC	p.D413Y		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	413					heart development|protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	8			BRCA - Breast invasive adenocarcinoma(143;0.0587)							343				0.194444	14.402508	17.539589	7	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85383141	85383141	549	15	G	T	T	T	481	37	ALPK3	1	1
ACAN	176	broad.mit.edu	37	15	89399982	89399982	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:89399982A>T	uc010upo.1	+	c.4166A>T	c.(4165-4167)GAG>GTG	p.E1389V	ACAN_uc010upp.1_Missense_Mutation_p.E1389V|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359			aggrecan isoform 2 precursor											ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)											0.125749	18.849208	41.716204	21	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89399982	89399982	118	15	A	T	T	T	143	11	ACAN	3	3
ABHD2	11057	broad.mit.edu	37	15	89736526	89736526	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:89736526C>G	uc002bnj.2	+	c.1057C>G	c.(1057-1059)CTA>GTA	p.L353V	ABHD2_uc002bnk.2_Missense_Mutation_p.L353V	NM_007011	NP_008942	P08910	ABHD2_HUMAN	alpha/beta hydrolase domain containing protein	353						integral to membrane	carboxylesterase activity			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					Colon(11;252 417 24570 33239 41878)								0.192308	39.265231	46.180872	15	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89736526	89736526	83	15	C	G	G	G	415	32	ABHD2	3	3
ANPEP	290	broad.mit.edu	37	15	90349374	90349374	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:90349374G>T	uc002bop.3	-	c.441C>A	c.(439-441)CCC>CCA	p.P147P		NM_001150	NP_001141	P15144	AMPN_HUMAN	membrane alanine aminopeptidase precursor	147	Extracellular.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			ovary(3)	3	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	NSCLC(30;827 977 2459 19669 26125)								0.276923	42.116746	45.031904	18	47	KEEP	---	---	---	---	capture		Silent	SNP	90349374	90349374	718	15	G	T	T	T	548	43	ANPEP	2	2
TPSD1	23430	broad.mit.edu	37	16	1308351	1308351	+	Silent	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1308351C>T	uc002clb.1	+	c.703C>T	c.(703-705)CTG>TTG	p.L235L		NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN	tryptase delta 1 precursor	235	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		Hepatocellular(780;0.00369)												0.16	21.312217	29.645834	12	63	KEEP	---	---	---	---	capture		Silent	SNP	1308351	1308351	16969	16	C	T	T	T	311	24	TPSD1	2	2
RRN3	54700	broad.mit.edu	37	16	15165037	15165037	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:15165037C>A	uc002dde.2	-	c.1200G>T	c.(1198-1200)AGG>AGT	p.R400S	PDXDC1_uc002ddc.2_Intron|RRN3_uc010uzp.1_Missense_Mutation_p.R268S|RRN3_uc010uzq.1_Missense_Mutation_p.R370S	NM_018427	NP_060897	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor	400					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				ovary(1)	1														0.108209	24.160409	64.961314	29	239	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15165037	15165037	14164	16	C	A	A	A	337	26	RRN3	2	2
EME2	197342	broad.mit.edu	37	16	1826131	1826131	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1826131G>T	uc002cmq.1	+	c.1227G>T	c.(1225-1227)CCG>CCT	p.P409P	MRPS34_uc002cmo.2_5'Flank|MRPS34_uc002cmp.1_5'Flank|EME2_uc010brw.1_Silent_p.P344P	NM_001010865	NP_001010865	A4GXA9	EME2_HUMAN	essential meiotic endonuclease 1 homolog 2	353					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			lung(1)|central_nervous_system(1)|pancreas(1)	3														0.168421	30.160779	40.04373	16	79	KEEP	---	---	---	---	capture		Silent	SNP	1826131	1826131	5281	16	G	T	T	T	483	38	EME2	1	1
TMC7	79905	broad.mit.edu	37	16	19070736	19070736	+	Splice_Site_SNP	SNP	A	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:19070736A>T	uc002dfp.2	+	c.2028_splice	c.e15-2	p.C676_splice	TMC7_uc002dfq.2_Splice_Site_SNP_p.C676_splice|TMC7_uc010vap.1_Splice_Site_SNP_p.C566_splice	NM_024847	NP_079123			transmembrane channel-like 7 isoform a							integral to membrane				ovary(1)	1														0.209677	92.2519	106.739416	39	147	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	19070736	19070736	16520	16	A	T	T	T	91	7	TMC7	5	3
DNAH3	55567	broad.mit.edu	37	16	21053462	21053462	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:21053462G>C	uc010vbe.1	-	c.4525C>G	c.(4525-4527)CTA>GTA	p.L1509V		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1509	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(10)|large_intestine(2)|central_nervous_system(2)	14				GBM - Glioblastoma multiforme(48;0.207)										0.356725	205.426307	208.519093	61	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21053462	21053462	4786	16	G	C	C	C	438	34	DNAH3	3	3
PLK1	5347	broad.mit.edu	37	16	23695312	23695312	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:23695312G>A	uc002dlz.1	+	c.938G>A	c.(937-939)CGT>CAT	p.R313H		NM_005030	NP_005021	P53350	PLK1_HUMAN	polo-like kinase 1	313					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			lung(1)	1				GBM - Glioblastoma multiforme(48;0.0156)		Colon(12;240 564 27038 33155)				206				0.095556	11.239898	85.086205	43	407	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23695312	23695312	12520	16	G	A	A	A	520	40	PLK1	1	1
CLN3	1201	broad.mit.edu	37	16	28498850	28498850	+	Silent	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:28498850G>A	uc002dpo.2	-	c.387C>T	c.(385-387)CTC>CTT	p.L129L	CLN3_uc002dpl.2_Silent_p.L51L|CLN3_uc010vcu.1_Silent_p.L29L|CLN3_uc002dpn.2_Missense_Mutation_p.R103C|CLN3_uc002dpm.2_Silent_p.L75L|CLN3_uc010vcv.1_Silent_p.L105L|CLN3_uc010byd.2_Silent_p.L129L|CLN3_uc002dpp.2_Silent_p.L129L|CLN3_uc002dpt.1_Silent_p.L29L|CLN3_uc002dpq.1_Silent_p.L129L|CLN3_uc010bye.1_Silent_p.L129L|CLN3_uc002dpr.1_Non-coding_Transcript|CLN3_uc010byf.1_Non-coding_Transcript|CLN3_uc002dps.1_Missense_Mutation_p.R75C|CLN3_uc002dpu.1_Silent_p.L75L|CLN3_uc002dpw.1_Missense_Mutation_p.R49C|CLN3_uc010vcw.1_Silent_p.L75L|CLN3_uc002dqa.2_Silent_p.L180L|CLN3_uc010vcx.1_Silent_p.L29L|CLN3_uc002dpx.1_Missense_Mutation_p.R79C|CLN3_uc002dpy.1_Missense_Mutation_p.R46C|CLN3_uc002dpz.1_Non-coding_Transcript	NM_000086	NP_000077	Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	129	Helical; (Potential).				amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding				0														0.246753	44.783646	49.281718	19	58	KEEP	---	---	---	---	capture		Silent	SNP	28498850	28498850	3681	16	G	A	A	A	470	37	CLN3	1	1
PKMYT1	9088	broad.mit.edu	37	16	3024067	3024067	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:3024067C>G	uc002csn.2	-	c.1244G>C	c.(1243-1245)GGC>GCC	p.G415A	PKMYT1_uc010uwn.1_Non-coding_Transcript|PKMYT1_uc002csm.2_Missense_Mutation_p.G415A|PKMYT1_uc002cso.2_Missense_Mutation_p.G346A|PKMYT1_uc002csp.2_Missense_Mutation_p.G406A|PKMYT1_uc002csq.2_Missense_Mutation_p.G406A|PKMYT1_uc010bsy.1_Missense_Mutation_p.G406A	NM_004203	NP_004194	Q99640	PMYT1_HUMAN	protein kinase Myt1 isoform 1	415	Interaction with PIN1.			G -> D (in Ref. 1; AAB71843).	G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity				0										30				0.176471	7.015954	8.691587	3	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3024067	3024067	12403	16	C	G	G	G	338	26	PKMYT1	3	3
PKMYT1	9088	broad.mit.edu	37	16	3025738	3025738	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:3025738C>A	uc002csn.2	-	c.454G>T	c.(454-456)GCC>TCC	p.A152S	PKMYT1_uc010uwn.1_Non-coding_Transcript|PKMYT1_uc002csm.2_Missense_Mutation_p.A152S|PKMYT1_uc002cso.2_Missense_Mutation_p.A83S|PKMYT1_uc002csp.2_Missense_Mutation_p.A143S|PKMYT1_uc002csq.2_Missense_Mutation_p.A143S|PKMYT1_uc010bsy.1_Missense_Mutation_p.A143S	NM_004203	NP_004194	Q99640	PMYT1_HUMAN	protein kinase Myt1 isoform 1	152	Protein kinase.				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity				0										30				0.242424	17.087838	19.082069	8	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3025738	3025738	12403	16	C	A	A	A	338	26	PKMYT1	2	2
SEPT1	1731	broad.mit.edu	37	16	30392730	30392730	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:30392730G>C	uc002dxy.2	-	c.370C>G	c.(370-372)CTG>GTG	p.L124V	SEPT1_uc002dxw.2_5'Flank|SEPT1_uc002dxx.2_5'UTR|SEPT1_uc010veq.1_Missense_Mutation_p.L171V	NM_052838	NP_443070	Q8WYJ6	SEPT1_HUMAN	septin 1	124					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			ovary(1)	1			Colorectal(24;0.193)											0.146465	54.038046	77.826443	29	169	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30392730	30392730	14545	16	G	C	C	C	451	35	SEPT1	3	3
ZNF747	65988	broad.mit.edu	37	16	30544384	30544384	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:30544384C>G	uc002dyn.2	-	c.572G>C	c.(571-573)GGC>GCC	p.G191A	ZNF768_uc010vex.1_5'UTR|ZNF747_uc002dyo.1_Missense_Mutation_p.G190A|ZNF747_uc010vey.1_Missense_Mutation_p.G190A	NM_023931	NP_076420	Q9BV97	ZN747_HUMAN	zinc finger protein 747	191					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding				0														0.110169	19.116087	36.833338	13	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30544384	30544384	18728	16	C	G	G	G	338	26	ZNF747	3	3
ZNF629	23361	broad.mit.edu	37	16	30794693	30794693	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:30794693C>T	uc002dzs.1	-	c.956G>A	c.(955-957)CGC>CAC	p.R319H		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	319	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)											0.274194	38.93896	41.794261	17	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30794693	30794693	18648	16	C	T	T	T	351	27	ZNF629	1	1
ITGAX	3687	broad.mit.edu	37	16	31371127	31371127	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31371127C>A	uc002ebt.2	+	c.537C>A	c.(535-537)AGC>AGA	p.S179R	ITGAX_uc002ebu.1_Missense_Mutation_p.S179R|ITGAX_uc010vfk.1_5'Flank	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	179	VWFA.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.161538	33.881104	48.063257	21	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31371127	31371127	8193	16	C	A	A	A	337	26	ITGAX	2	2
ITGAX	3687	broad.mit.edu	37	16	31374572	31374572	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31374572G>T	uc002ebt.2	+	c.1587G>T	c.(1585-1587)GGG>GGT	p.G529G	ITGAX_uc002ebu.1_Silent_p.G529G|ITGAX_uc010vfk.1_Silent_p.G179G	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	529	Extracellular (Potential).|FG-GAP 6.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.222581	129.951624	151.971522	69	241	KEEP	---	---	---	---	capture		Silent	SNP	31374572	31374572	8193	16	G	T	T	T	548	43	ITGAX	2	2
ITGAD	3681	broad.mit.edu	37	16	31422758	31422758	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31422758C>A	uc010cap.1	+	c.1630C>A	c.(1630-1632)CCG>ACG	p.P544T	ITGAD_uc002ebv.1_Missense_Mutation_p.P543T	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	543	FG-GAP 6.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1														0.155989	81.979944	122.478301	56	303	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31422758	31422758	8188	16	C	A	A	A	286	22	ITGAD	2	2
NOD2	64127	broad.mit.edu	37	16	50744652	50744652	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:50744652G>T	uc002egm.1	+	c.830G>T	c.(829-831)GGC>GTC	p.G277V	NOD2_uc010cbk.1_Missense_Mutation_p.G250V|NOD2_uc002egl.1_Missense_Mutation_p.G55V|NOD2_uc010cbl.1_Missense_Mutation_p.G55V|NOD2_uc010cbm.1_Missense_Mutation_p.G55V|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	277					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			ovary(3)	3		all_cancers(37;0.0156)												0.294118	24.139699	25.427864	10	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50744652	50744652	10920	16	G	T	T	T	546	42	NOD2	2	2
SALL1	6299	broad.mit.edu	37	16	51174165	51174165	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:51174165G>T	uc010vgs.1	-	c.1968C>A	c.(1966-1968)ACC>ACA	p.T656T	SALL1_uc010vgr.1_Silent_p.T559T|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	656					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity|zinc ion binding			ovary(3)	3		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GBM(103;1352 1446 1855 4775 8890)								0.141414	15.572058	27.914556	14	85	KEEP	---	---	---	---	capture		Silent	SNP	51174165	51174165	14290	16	G	T	T	T	600	47	SALL1	2	2
SALL1	6299	broad.mit.edu	37	16	51174492	51174492	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:51174492G>T	uc010vgs.1	-	c.1641C>A	c.(1639-1641)GTC>GTA	p.V547V	SALL1_uc010vgr.1_Silent_p.V450V|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	547					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity|zinc ion binding			ovary(3)	3		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GBM(103;1352 1446 1855 4775 8890)								0.3	41.920033	44.06857	18	42	KEEP	---	---	---	---	capture		Silent	SNP	51174492	51174492	14290	16	G	T	T	T	522	41	SALL1	2	2
MMP2	4313	broad.mit.edu	37	16	55536706	55536706	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:55536706G>T	uc002ehz.3	+	c.1785G>T	c.(1783-1785)AAG>AAT	p.K595N	MMP2_uc010vhd.1_Missense_Mutation_p.K519N|MMP2_uc010ccc.2_Missense_Mutation_p.K545N|MMP2_uc002eia.3_Missense_Mutation_p.K92N	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	595	Hemopexin-like 3.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			ovary(3)|large_intestine(3)|lung(1)|central_nervous_system(1)|kidney(1)	9		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)					275				0.109589	5.540705	16.565887	8	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55536706	55536706	10048	16	G	T	T	T	425	33	MMP2	2	2
CX3CL1	6376	broad.mit.edu	37	16	57413650	57413650	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:57413650G>T	uc002eli.2	+	c.175G>T	c.(175-177)GGC>TGC	p.G59C		NM_002996	NP_002987	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1 precursor	59	Extracellular (Potential).|Chemokine.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity				0														0.102041	8.274849	23.751341	10	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57413650	57413650	4234	16	G	T	T	T	507	39	CX3CL1	1	1
PLCG2	5336	broad.mit.edu	37	16	81960704	81960704	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:81960704G>T	uc002fgt.2	+	c.2435G>T	c.(2434-2436)GGA>GTA	p.G812V		NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	812	SH3.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8										1880				0.153846	51.102335	77.998637	36	198	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81960704	81960704	12462	16	G	T	T	T	533	41	PLCG2	2	2
TMEM186	25880	broad.mit.edu	37	16	8889820	8889820	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:8889820T>A	uc002cze.2	-	c.631A>T	c.(631-633)ATG>TTG	p.M211L	PMM2_uc002czf.3_5'Flank|PMM2_uc010uyf.1_5'Flank|PMM2_uc010uyg.1_5'Flank|PMM2_uc010uyh.1_5'Flank|PMM2_uc010buj.2_5'Flank|PMM2_uc010uyi.1_5'Flank|PMM2_uc010uye.1_5'Flank	NM_015421	NP_056236	Q96B77	TM186_HUMAN	transmembrane protein 186	211						integral to membrane|mitochondrion				ovary(1)	1														0.348958	189.570987	193.434435	67	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8889820	8889820	16642	16	T	A	A	A	650	50	TMEM186	3	3
MYH8	4626	broad.mit.edu	37	17	10309716	10309716	+	Splice_Site_SNP	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10309716T>A	uc002gmm.2	-	c.2172_splice	c.e20-1	p.R724_splice		NM_002472	NP_002463			myosin, heavy chain 8, skeletal muscle,						muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(3)|breast(2)	5														0.234043	55.502051	61.586026	22	72	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	10309716	10309716	10436	17	T	A	A	A	715	55	MYH8	5	3
MYH1	4619	broad.mit.edu	37	17	10399727	10399727	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10399727T>A	uc002gmo.2	-	c.4796A>T	c.(4795-4797)GAG>GTG	p.E1599V		NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1599	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				0.101961	13.465455	53.760625	26	229	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10399727	10399727	10424	17	T	A	A	A	702	54	MYH1	3	3
MYH2	4620	broad.mit.edu	37	17	10440587	10440587	+	Silent	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10440587T>A	uc010coi.2	-	c.1860A>T	c.(1858-1860)CTA>CTT	p.L620L	MYH2_uc002gmp.3_Silent_p.L620L|MYH2_uc010coj.2_Silent_p.L620L	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	620	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|lung(1)|kidney(1)	11														0.226766	145.452046	163.875949	61	208	KEEP	---	---	---	---	capture		Silent	SNP	10440587	10440587	10430	17	T	A	A	A	678	53	MYH2	3	3
MYH3	4621	broad.mit.edu	37	17	10555781	10555781	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10555781C>T	uc002gmq.1	-	c.304G>A	c.(304-306)GTG>ATG	p.V102M		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	102	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(1)|pancreas(1)	6														0.285714	79.955849	84.570054	32	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10555781	10555781	10431	17	C	T	T	T	247	19	MYH3	1	1
DNAH9	1770	broad.mit.edu	37	17	11522936	11522937	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:11522936_11522937GG>TT	uc002gne.2	+	c.1188_1189GG>TT	c.(1186-1191)GTGGTC>GTTTTC	p.V397F		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	397	Potential.|Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	10		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)										0.085	3.608047	38.563519	17	183	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	11522936	11522937	4791	17	GG	TT	TT	TT	600	47	DNAH9	2	2
DNAH9	1770	broad.mit.edu	37	17	11532817	11532817	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:11532817G>T	uc002gne.2	+	c.1434G>T	c.(1432-1434)CAG>CAT	p.Q478H		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	478	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	10		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)										0.233645	56.512584	63.466637	25	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11532817	11532817	4791	17	G	T	T	T	451	35	DNAH9	2	2
DNAH9	1770	broad.mit.edu	37	17	11651011	11651011	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:11651011C>A	uc002gne.2	+	c.6538C>A	c.(6538-6540)CTC>ATC	p.L2180I	DNAH9_uc010coo.2_Missense_Mutation_p.L1474I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2180	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	10		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)										0.296296	40.474842	42.481382	16	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11651011	11651011	4791	17	C	A	A	A	312	24	DNAH9	2	2
MYOCD	93649	broad.mit.edu	37	17	12642536	12642536	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:12642536C>T	uc002gno.2	+	c.608C>T	c.(607-609)TCA>TTA	p.S203L	MYOCD_uc002gnn.2_Missense_Mutation_p.S203L|MYOCD_uc002gnp.1_Missense_Mutation_p.S107L	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	myocardin isoform 1	203					cardiac cell differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of smooth muscle contraction|regulation of smooth muscle cell differentiation|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription factor binding			central_nervous_system(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)										0.173077	28.800988	39.297235	18	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12642536	12642536	10482	17	C	T	T	T	377	29	MYOCD	2	2
HS3ST3A1	9955	broad.mit.edu	37	17	13503879	13503879	+	Missense_Mutation	SNP	G	C	C	rs78372491		TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:13503879G>C	uc002gob.1	-	c.568C>G	c.(568-570)CGC>GGC	p.R190G		NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN	heparan sulfate D-glucosaminyl	190	Substrate binding.|Lumenal (Potential).			R->E: 32% loss of enzymatic activity.		Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			ovary(1)|central_nervous_system(1)	2		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)										0.230769	8.418807	9.281829	3	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13503879	13503879	7659	17	G	C	C	C	507	39	HS3ST3A1	3	3
SLC13A2	9058	broad.mit.edu	37	17	26817894	26817894	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:26817894C>A	uc010wan.1	+	c.691C>A	c.(691-693)CCA>ACA	p.P231T	SLC13A2_uc010wal.1_Missense_Mutation_p.P139T|SLC13A2_uc010wam.1_Missense_Mutation_p.P138T|SLC13A2_uc002hbh.2_Missense_Mutation_p.P182T|SLC13A2_uc010wao.1_Missense_Mutation_p.P139T|SLC13A2_uc002hbi.2_Missense_Mutation_p.P111T	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	solute carrier family 13, member 2 isoform a	182						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity				0	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)									0.16129	8.454107	11.839196	5	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26817894	26817894	14887	17	C	A	A	A	234	18	SLC13A2	2	2
MYO18A	399687	broad.mit.edu	37	17	27493336	27493336	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:27493336G>A	uc002hdt.1	-	c.623C>T	c.(622-624)CCC>CTC	p.P208L	MYO18A_uc010csa.1_Missense_Mutation_p.P208L|MYO18A_uc002hdu.1_Missense_Mutation_p.P208L	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	208					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			Esophageal Squamous(182;472 2015 7001 15270 22562)								0.132075	20.298556	34.221162	14	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27493336	27493336	10460	17	G	A	A	A	559	43	MYO18A	2	2
TMIGD1	388364	broad.mit.edu	37	17	28656342	28656342	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:28656342G>C	uc002hfa.1	-	c.288C>G	c.(286-288)GAC>GAG	p.D96E	TMIGD1_uc010csh.1_Missense_Mutation_p.D96E	NM_206832	NP_996663	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain	96	Extracellular (Potential).|Ig-like C2-type 1.					integral to membrane					0														0.132231	32.510941	48.409427	16	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28656342	28656342	16770	17	G	C	C	C	620	48	TMIGD1	3	3
OR3A1	4994	broad.mit.edu	37	17	3195613	3195613	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:3195613G>T	uc002fvh.1	-	c.264C>A	c.(262-264)CTC>CTA	p.L88L		NM_002550	NP_002541	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A,	88	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|central_nervous_system(1)	3						GBM(20;287 516 18743 28660 36594)								0.229167	23.096682	26.32875	11	37	KEEP	---	---	---	---	capture		Silent	SNP	3195613	3195613	11443	17	G	T	T	T	522	41	OR3A1	2	2
TMEM132E	124842	broad.mit.edu	37	17	32964723	32964723	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:32964723C>A	uc002hif.2	+	c.2427C>A	c.(2425-2427)TGC>TGA	p.C809*		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	809	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)										0.178218	32.319801	42.144661	18	83	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	32964723	32964723	16580	17	C	A	A	A	337	26	TMEM132E	5	2
AMAC1	146861	broad.mit.edu	37	17	33520879	33520879	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:33520879C>A	uc002hjd.2	-	c.448G>T	c.(448-450)GAG>TAG	p.E150*		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	acyl-malonyl condensing enzyme 1	150	DUF6 1.					integral to membrane					0				BRCA - Breast invasive adenocarcinoma(366;0.0917)										0.215686	89.216276	104.523844	44	160	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	33520879	33520879	562	17	C	A	A	A	377	29	AMAC1	5	2
ASPA	443	broad.mit.edu	37	17	3386869	3386869	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:3386869T>C	uc010ckg.2	+	c.509T>C	c.(508-510)ATA>ACA	p.I170T	SPATA22_uc010vrg.1_Intron|ASPA_uc002fvq.2_Missense_Mutation_p.I170T	NM_001128085	NP_001121557	P45381	ACY2_HUMAN	aspartoacylase	170					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding				0					L-Aspartic Acid(DB00128)									0.186916	55.165466	64.965576	20	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3386869	3386869	1069	17	T	C	C	C	637	49	ASPA	4	4
KRT25	147183	broad.mit.edu	37	17	38910148	38910148	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:38910148A>T	uc002hve.2	-	c.633T>A	c.(631-633)AGT>AGA	p.S211R		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	keratin 25	211	Rod.|Coil 1B.					cytoplasm|intermediate filament	structural molecule activity			ovary(2)	2		Breast(137;0.00526)												0.191489	115.201569	140.271943	54	228	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38910148	38910148	8777	17	A	T	T	T	76	6	KRT25	3	3
KRT39	390792	broad.mit.edu	37	17	39118699	39118699	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39118699G>T	uc002hvo.1	-	c.825C>A	c.(823-825)ATC>ATA	p.I275I	KRT39_uc010wfm.1_Silent_p.I8I	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	type I hair keratin KA35	275	Coil 2.|Rod.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)|Ovarian(249;0.15)												0.215297	320.668255	373.534396	152	554	KEEP	---	---	---	---	capture		Silent	SNP	39118699	39118699	8791	17	G	T	T	T	577	45	KRT39	2	2
KRTAP4-2	85291	broad.mit.edu	37	17	39334263	39334263	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39334263G>T	uc002hwd.2	-	c.154C>A	c.(154-156)CAG>AAG	p.Q52K		NM_033062	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	52	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].|8.					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)											0.333333	49.700753	51.105615	19	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39334263	39334263	8873	17	G	T	T	T	611	47	KRTAP4-2	2	2
CNTD1	124817	broad.mit.edu	37	17	40959840	40959840	+	Silent	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40959840T>A	uc002ibm.3	+	c.780T>A	c.(778-780)ATT>ATA	p.I260I	CNTD1_uc010wha.1_Silent_p.I177I	NM_173478	NP_775749	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	260											0		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)										0.184874	46.679235	57.761826	22	97	KEEP	---	---	---	---	capture		Silent	SNP	40959840	40959840	3773	17	T	A	A	A	809	63	CNTD1	3	3
ZNF652	22834	broad.mit.edu	37	17	47376242	47376242	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:47376242T>A	uc002iov.3	-	c.1354A>T	c.(1354-1356)AGC>TGC	p.S452C	ZNF652_uc002iow.2_Missense_Mutation_p.S452C|ZNF652_uc002iou.3_Non-coding_Transcript	NM_001145365	NP_001138837	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	452	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)											0.201923	48.52287	57.103249	21	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47376242	47376242	18660	17	T	A	A	A	715	55	ZNF652	3	3
KIF2B	84643	broad.mit.edu	37	17	51900791	51900791	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:51900791G>A	uc002iua.2	+	c.397G>A	c.(397-399)GTG>ATG	p.V133M		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	133					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)	5														0.104651	9.723972	36.472022	18	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51900791	51900791	8609	17	G	A	A	A	624	48	KIF2B	2	2
MKS1	54903	broad.mit.edu	37	17	56290356	56290356	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56290356C>G	uc002ivr.1	-	c.845G>C	c.(844-846)CGA>CCA	p.R282P	MKS1_uc010wnq.1_Missense_Mutation_p.R79P|MKS1_uc002ivs.1_Missense_Mutation_p.R282P	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Meckel syndrome type 1 protein isoform 1	282					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			ovary(1)	1														0.320611	141.106461	144.849932	42	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56290356	56290356	9999	17	C	G	G	G	403	31	MKS1	3	3
SKA2	348235	broad.mit.edu	37	17	57208721	57208721	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:57208721T>A	uc002ixd.2	-	c.41A>T	c.(40-42)AAA>ATA	p.K14I	SKA2_uc002ixc.2_Non-coding_Transcript|SKA2_uc010dde.1_Nonsense_Mutation_p.K46*|SKA2_uc002ixe.2_Non-coding_Transcript	NM_182620	NP_872426	Q8WVK7	SKA2_HUMAN	spindle and KT associated 2 isoform 1	14					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding				0														0.416667	14.572532	14.645369	5	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57208721	57208721	14848	17	T	A	A	A	832	64	SKA2	3	3
CLTC	1213	broad.mit.edu	37	17	57728627	57728627	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:57728627G>A	uc002ixr.1	+	c.757G>A	c.(757-759)GAT>AAT	p.D253N	CLTC_uc002ixp.2_Missense_Mutation_p.D249N|CLTC_uc002ixq.1_Missense_Mutation_p.D249N	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	249	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)	47	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)									397				0.15812	67.318985	93.400165	37	197	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57728627	57728627	3704	17	G	A	A	A	533	41	CLTC	2	2
PSMD12	5718	broad.mit.edu	37	17	65340847	65340847	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:65340847G>T	uc002jfy.2	-	c.958C>A	c.(958-960)CTT>ATT	p.L320I	PSMD12_uc002jga.2_Missense_Mutation_p.L300I|PSMD12_uc002jfz.2_Missense_Mutation_p.L261I	NM_002816	NP_002807	O00232	PSD12_HUMAN	proteasome 26S non-ATPase subunit 12 isoform 1	320	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding				0	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)													0.181818	37.286116	46.706955	18	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65340847	65340847	13148	17	G	T	T	T	468	36	PSMD12	2	2
ABCA6	23460	broad.mit.edu	37	17	67111003	67111003	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:67111003C>A	uc002jhw.1	-	c.1682G>T	c.(1681-1683)TGT>TTT	p.C561F	ABCA6_uc002jhx.1_Missense_Mutation_p.C14F	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6	561	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			large_intestine(2)|ovary(2)	4	Breast(10;5.65e-12)													0.134752	28.318813	46.565172	19	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67111003	67111003	37	17	C	A	A	A	221	17	ABCA6	2	2
KIF19	124602	broad.mit.edu	37	17	72348399	72348399	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:72348399G>T	uc002jkm.3	+	c.1900G>T	c.(1900-1902)GAA>TAA	p.E634*	KIF19_uc002jkl.2_Nonsense_Mutation_p.E592*	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	634					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0														0.463415	52.715734	52.763929	19	22	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	72348399	72348399	8593	17	G	T	T	T	481	37	KIF19	5	1
CASKIN2	57513	broad.mit.edu	37	17	73503731	73503731	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:73503731C>A	uc002joc.2	-	c.178G>T	c.(178-180)GGC>TGC	p.G60C	CASKIN2_uc010wsc.1_5'UTR|CASKIN2_uc002jod.2_Missense_Mutation_p.G60C	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	cask-interacting protein 2 isoform a	60	ANK 1.					cytoplasm				pancreas(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)											0.319149	33.755081	35.152933	15	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73503731	73503731	2786	17	C	A	A	A	286	22	CASKIN2	2	2
QRICH2	84074	broad.mit.edu	37	17	74288578	74288578	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:74288578G>A	uc002jrd.1	-	c.1732C>T	c.(1732-1734)CGT>TGT	p.R578C	QRICH2_uc010wsz.1_Missense_Mutation_p.R504C|QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	578	Gln-rich.						protein binding			ovary(1)|lung(1)|central_nervous_system(1)|pancreas(1)	4														0.12766	15.635678	28.340246	12	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74288578	74288578	13338	17	G	A	A	A	481	37	QRICH2	1	1
TP53	7157	broad.mit.edu	37	17	7579373	7579373	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7579373C>T	uc002gim.2	-	c.314G>A	c.(313-315)GGC>GAC	p.G105D	TP53_uc002gig.1_Missense_Mutation_p.G105D|TP53_uc002gih.2_Missense_Mutation_p.G105D|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.G105D|TP53_uc010cni.1_Missense_Mutation_p.G105D|TP53_uc002gij.2_Missense_Mutation_p.G105D|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.G66D|TP53_uc010cnk.1_Missense_Mutation_p.G120D	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	105	Interaction with HIPK1 (By similarity).||Interaction with WWOX.		G -> D (in sporadic cancers; somatic mutation).|G -> S (in a sporadic cancer; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> R (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.0?(6)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G105A(1)|p.G105V(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.G105D(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		Pancreas(47;798 1329 9957 10801)		111		690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.32967	81.039098	83.369251	30	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7579373	7579373	16923	17	C	T	T	T	338	26	TP53	2	2
ENPP7	339221	broad.mit.edu	37	17	77705138	77705138	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:77705138C>A	uc002jxa.2	+	c.237C>A	c.(235-237)CAC>CAA	p.H79Q		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	79					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			central_nervous_system(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)											0.1875	11.928834	14.857421	6	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77705138	77705138	5328	17	C	A	A	A	259	20	ENPP7	2	2
MYH10	4628	broad.mit.edu	37	17	8415964	8415964	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:8415964C>G	uc002glm.2	-	c.2757G>C	c.(2755-2757)GAG>GAC	p.E919D	MYH10_uc002gll.2_Missense_Mutation_p.E888D|MYH10_uc010cnx.2_Missense_Mutation_p.E897D	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	888	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2										971				0.152174	13.387541	18.728257	7	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8415964	8415964	10425	17	C	G	G	G	415	32	MYH10	3	3
MC2R	4158	broad.mit.edu	37	18	13885377	13885377	+	Silent	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:13885377C>T	uc002ksp.1	-	c.141G>A	c.(139-141)CTG>CTA	p.L47L		NM_000529	NP_000520	Q01718	ACTHR_HUMAN	melanocortin 2 receptor	47	Helical; Name=1; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	adrenocorticotropin receptor activity|protein binding			ovary(4)	4					Corticotropin(DB01285)|Cosyntropin(DB01284)	Colon(141;1584 1782 35999 48227 48692)								0.22973	41.059252	45.999666	17	57	KEEP	---	---	---	---	capture		Silent	SNP	13885377	13885377	9753	18	C	T	T	T	262	21	MC2R	2	2
LAMA3	3909	broad.mit.edu	37	18	21513790	21513790	+	Missense_Mutation	SNP	T	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:21513790T>G	uc002kuq.2	+	c.8753T>G	c.(8752-8754)CTC>CGC	p.L2918R	LAMA3_uc002kur.2_Missense_Mutation_p.L2862R|LAMA3_uc002kus.3_Missense_Mutation_p.L1309R|LAMA3_uc002kut.3_Missense_Mutation_p.L1253R	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	2918	Laminin G-like 3.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|central_nervous_system(1)	9	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.218391	48.477801	54.836174	19	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21513790	21513790	8930	18	T	G	G	G	702	54	LAMA3	4	4
RNF138	51444	broad.mit.edu	37	18	29709131	29709131	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:29709131C>G	uc002kxg.2	+	c.719C>G	c.(718-720)TCT>TGT	p.S240C	RNF138_uc002kxh.2_Missense_Mutation_p.S146C	NM_016271	NP_057355	Q8WVD3	RN138_HUMAN	ring finger protein 138 isoform 1	240					Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding				0														0.122222	18.655381	31.238939	11	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29709131	29709131	13918	18	C	G	G	G	416	32	RNF138	3	3
ASXL3	80816	broad.mit.edu	37	18	31324221	31324221	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:31324221C>A	uc010dmg.1	+	c.4409C>A	c.(4408-4410)CCG>CAG	p.P1470Q	ASXL3_uc002kxq.2_Missense_Mutation_p.P1177Q	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3												OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.209877	41.132859	47.439804	17	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31324221	31324221	1087	18	C	A	A	A	299	23	ASXL3	1	1
SLC39A6	25800	broad.mit.edu	37	18	33706788	33706788	+	Silent	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:33706788G>A	uc010dmy.2	-	c.183C>T	c.(181-183)TTC>TTT	p.F61F	SLC39A6_uc002kzj.2_Intron	NM_012319	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter),	61	Extracellular (Potential).					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			ovary(1)|pancreas(1)	2														0.294964	116.498068	121.741272	41	98	KEEP	---	---	---	---	capture		Silent	SNP	33706788	33706788	15119	18	G	A	A	A	425	33	SLC39A6	2	2
SETBP1	26040	broad.mit.edu	37	18	42618459	42618459	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:42618459G>T	uc010dni.2	+	c.4010G>T	c.(4009-4011)AGT>ATT	p.S1337I		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1337						nucleus	DNA binding			large_intestine(1)	1				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)										0.186667	27.300478	34.203781	14	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42618459	42618459	14617	18	G	T	T	T	468	36	SETBP1	2	2
SLC14A1	6563	broad.mit.edu	37	18	43314340	43314340	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:43314340T>C	uc010dnk.2	+	c.611T>C	c.(610-612)CTC>CCC	p.L204P	SLC14A1_uc010xcn.1_Missense_Mutation_p.L148P|SLC14A1_uc002lbf.3_Missense_Mutation_p.L148P|SLC14A1_uc002lbg.3_Non-coding_Transcript|SLC14A1_uc010xco.1_Missense_Mutation_p.L43P|SLC14A1_uc002lbh.3_Missense_Mutation_p.L40P|SLC14A1_uc002lbi.3_Missense_Mutation_p.L16P|SLC14A1_uc002lbj.3_Missense_Mutation_p.L204P|SLC14A1_uc002lbk.3_Missense_Mutation_p.L148P	NM_001128588	NP_001122060	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter),	148	Helical; (Potential).					integral to plasma membrane	ubiquitin-ubiquitin ligase activity|urea transmembrane transporter activity			central_nervous_system(1)|pancreas(1)	2										201				0.287234	88.893253	92.705433	27	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43314340	43314340	14891	18	T	C	C	C	702	54	SLC14A1	4	4
SERPINB13	5275	broad.mit.edu	37	18	61264336	61264336	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:61264336G>T	uc010xep.1	+	c.942G>T	c.(940-942)ATG>ATT	p.M314I	SERPINB13_uc002ljc.2_Missense_Mutation_p.M305I|SERPINB13_uc002ljd.2_Missense_Mutation_p.M169I|SERPINB13_uc010xeq.1_Missense_Mutation_p.M126I|SERPINB13_uc010xer.1_Missense_Mutation_p.M126I	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	serine (or cysteine) proteinase inhibitor, clade	305					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)	1														0.136	22.981872	39.03264	17	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61264336	61264336	14588	18	G	T	T	T	611	47	SERPINB13	2	2
SERPINB3	6317	broad.mit.edu	37	18	61323236	61323236	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:61323236T>A	uc002lji.2	-	c.828A>T	c.(826-828)AGA>AGT	p.R276S	SERPINB4_uc002ljg.2_Intron|SERPINB3_uc010dqa.2_Missense_Mutation_p.R224S	NM_006919	NP_008850	P29508	SPB3_HUMAN	serine (or cysteine) proteinase inhibitor, clade	276					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|central_nervous_system(1)	2														0.550725	109.847352	110.001057	38	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61323236	61323236	14590	18	T	A	A	A	699	54	SERPINB3	3	3
SERPINB11	89778	broad.mit.edu	37	18	61390485	61390485	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:61390485C>G	uc002ljk.3	+	c.1031C>G	c.(1030-1032)ACG>AGG	p.T344R	SERPINB11_uc010xes.1_Missense_Mutation_p.T169R|SERPINB11_uc010dqd.2_Intron|SERPINB11_uc002ljj.3_Missense_Mutation_p.T230R|SERPINB11_uc010dqe.2_Missense_Mutation_p.T143R|SERPINB11_uc010dqf.2_Missense_Mutation_p.T142R	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B, member 11	344	RCL (By similarity).				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)	1		Esophageal squamous(42;0.129)				Ovarian(27;496 784 5942 8975 23930)								0.528302	105.707969	105.745403	28	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61390485	61390485	14586	18	C	G	G	G	247	19	SERPINB11	3	3
CDH19	28513	broad.mit.edu	37	18	64178899	64178899	+	Silent	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:64178899C>A	uc002lkc.1	-	c.1482G>T	c.(1480-1482)GTG>GTT	p.V494V	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Intron	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	494	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1		Esophageal squamous(42;0.0132)												0.232558	24.526013	27.343473	10	33	KEEP	---	---	---	---	capture		Silent	SNP	64178899	64178899	3233	18	C	A	A	A	262	21	CDH19	2	2
RTTN	25914	broad.mit.edu	37	18	67718785	67718785	+	Splice_Site_SNP	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:67718785C>A	uc002lkp.2	-	c.5186_splice	c.e39-1	p.D1729_splice	RTTN_uc002lko.2_Splice_Site_SNP|RTTN_uc010xfb.1_Splice_Site_SNP_p.D817_splice|RTTN_uc010dqp.2_Splice_Site_SNP	NM_173630	NP_775901			rotatin								binding			ovary(3)|pancreas(2)|breast(1)|central_nervous_system(1)	7		Esophageal squamous(42;0.129)												0.6	36.001139	36.175448	12	8	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	67718785	67718785	14217	18	C	A	A	A	416	32	RTTN	5	2
NETO1	81832	broad.mit.edu	37	18	70451078	70451078	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:70451078C>A	uc002lkw.2	-	c.703G>T	c.(703-705)GCT>TCT	p.A235S	NETO1_uc002lkx.1_Missense_Mutation_p.A234S|NETO1_uc002lky.1_Missense_Mutation_p.A235S	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	235	CUB 2.|Extracellular (Potential).				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)	2		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)										0.511111	274.887243	274.906135	92	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70451078	70451078	10738	18	C	A	A	A	338	26	NETO1	2	2
ZNF407	55628	broad.mit.edu	37	18	72353080	72353080	+	Splice_Site_SNP	SNP	T	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:72353080T>C	uc002llw.2	+	c.4802_splice	c.e2+2	p.G1601_splice	ZNF407_uc010xfc.1_Splice_Site_SNP_p.G1601_splice|ZNF407_uc010dqu.1_Splice_Site_SNP_p.G1601_splice	NM_017757	NP_060227			zinc finger protein 407 isoform 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)										0.320388	87.037476	89.990383	33	70	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	72353080	72353080	18480	18	T	C	C	C	767	59	ZNF407	5	4
NFATC1	4772	broad.mit.edu	37	18	77221367	77221367	+	Splice_Site_SNP	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:77221367G>T	uc010xfg.1	+	c.1959_splice	c.e7+1	p.P653_splice	NFATC1_uc002lnc.1_Splice_Site_SNP_p.P653_splice|NFATC1_uc010xff.1_Splice_Site_SNP_p.R625_splice|NFATC1_uc002lnd.2_Splice_Site_SNP_p.P653_splice|NFATC1_uc002lne.2_Splice_Site_SNP_p.P181_splice|NFATC1_uc010xfh.1_Splice_Site_SNP_p.P653_splice|NFATC1_uc010xfi.1_Splice_Site_SNP_p.P640_splice|NFATC1_uc010xfj.1_Splice_Site_SNP_p.P181_splice|NFATC1_uc002lnf.2_Splice_Site_SNP_p.P640_splice|NFATC1_uc002lng.2_Splice_Site_SNP_p.P640_splice|NFATC1_uc010xfk.1_Splice_Site_SNP_p.P640_splice	NM_006162	NP_006153			nuclear factor of activated T-cells, cytosolic						intracellular signal transduction|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|promoter binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription activator activity			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GBM(151;1210 2593 28719 45011)				1639				0.243243	22.959934	25.181103	9	28	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	77221367	77221367	10761	18	G	T	T	T	572	44	NFATC1	5	2
MRI1	84245	broad.mit.edu	37	19	13883024	13883024	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:13883024G>T	uc002mxe.2	+	c.1039G>T	c.(1039-1041)GAG>TAG	p.E347*	MRI1_uc002mxf.2_Nonsense_Mutation_p.E300*|C19orf53_uc002mxg.2_5'Flank	NM_001031727	NP_001026897	Q9BV20	MTNA_HUMAN	translation initiation factor eIF-2B subunit	347					L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity				0														0.28	51.639049	54.905575	21	54	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	13883024	13883024	10163	19	G	T	T	T	585	45	MRI1	5	2
CC2D1A	54862	broad.mit.edu	37	19	14024011	14024011	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:14024011G>T	uc002mxo.2	+	c.409G>T	c.(409-411)GAG>TAG	p.E137*	CC2D1A_uc002mxn.2_Nonsense_Mutation_p.E36*|CC2D1A_uc002mxp.2_Nonsense_Mutation_p.E137*|CC2D1A_uc010dzh.2_5'UTR	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	137					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)											0.352941	14.442198	14.767547	6	11	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	14024011	14024011	2846	19	G	T	T	T	533	41	CC2D1A	5	2
EMR3	84658	broad.mit.edu	37	19	14740861	14740861	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:14740861A>T	uc002mzi.3	-	c.1802T>A	c.(1801-1803)CTC>CAC	p.L601H	EMR3_uc010dzp.2_Missense_Mutation_p.L549H|EMR3_uc010xnv.1_Missense_Mutation_p.L475H	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	egf-like module-containing mucin-like receptor	601	Helical; Name=7; (Potential).				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(5)	5														0.466667	59.169065	59.212663	21	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14740861	14740861	5299	19	A	T	T	T	143	11	EMR3	3	3
ZNF333	84449	broad.mit.edu	37	19	14829857	14829857	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:14829857A>T	uc002mzn.2	+	c.1718A>T	c.(1717-1719)GAG>GTG	p.E573V	ZNF333_uc002mzk.3_Missense_Mutation_p.E464V	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN	zinc finger protein 333	573	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						NSCLC(60;75 1281 16985 25154 29885)								0.208955	28.811205	34.068126	14	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14829857	14829857	18442	19	A	T	T	T	143	11	ZNF333	3	3
SLC1A6	6511	broad.mit.edu	37	19	15082552	15082552	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15082552T>A	uc002naa.1	-	c.340A>T	c.(340-342)ACA>TCA	p.T114S	SLC1A6_uc010dzu.1_Missense_Mutation_p.T114S|SLC1A6_uc010xod.1_Missense_Mutation_p.H118L|SLC1A6_uc002nab.2_Missense_Mutation_p.T114S|SLC1A6_uc002nac.2_Missense_Mutation_p.T114S|SLC1A6_uc002nad.1_Missense_Mutation_p.T114S	NM_005071	NP_005062	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity	114	Helical; (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(3)|ovary(2)	5					L-Glutamic Acid(DB00142)									0.409836	72.064747	72.497308	25	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15082552	15082552	14932	19	T	A	A	A	767	59	SLC1A6	3	3
CILP2	148113	broad.mit.edu	37	19	19655881	19655881	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:19655881G>A	uc002nmw.3	+	c.2545G>A	c.(2545-2547)GGG>AGG	p.G849R	CILP2_uc002nmv.3_Missense_Mutation_p.G843R	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	843						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1														0.681818	45.119415	45.7635	15	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19655881	19655881	3564	19	G	A	A	A	559	43	CILP2	2	2
ZNF253	56242	broad.mit.edu	37	19	19990929	19990929	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:19990929G>T	uc002noj.2	+	c.200G>T	c.(199-201)AGA>ATA	p.R67I	ZNF253_uc002nok.2_Intron|ZNF253_uc002nol.2_Intron	NM_021047	NP_066385	O75346	ZN253_HUMAN	zinc finger protein 253	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription repressor activity|zinc ion binding				0														0.209877	34.006171	40.345753	17	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19990929	19990929	18388	19	G	T	T	T	429	33	ZNF253	2	2
ZNF257	113835	broad.mit.edu	37	19	22272135	22272135	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22272135C>T	uc010ecx.2	+	c.1583C>T	c.(1582-1584)TCA>TTA	p.S528L	ZNF257_uc010ecy.2_Missense_Mutation_p.S496L	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	528	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)												0.138889	6.947734	11.487947	5	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22272135	22272135	18391	19	C	T	T	T	377	29	ZNF257	2	2
ZNF536	9745	broad.mit.edu	37	19	30935936	30935936	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:30935936G>T	uc002nsu.1	+	c.1467G>T	c.(1465-1467)CTG>CTT	p.L489L	ZNF536_uc010edd.1_Silent_p.L489L	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)													0.195652	35.497703	43.443135	18	74	KEEP	---	---	---	---	capture		Silent	SNP	30935936	30935936	18568	19	G	T	T	T	600	47	ZNF536	2	2
TSHZ3	57616	broad.mit.edu	37	19	31768572	31768572	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31768572G>T	uc002nsy.3	-	c.2127C>A	c.(2125-2127)ATC>ATA	p.I709I		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	709					regulation of respiratory gaseous exchange by neurological system process|regulation of transcription, DNA-dependent	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|skin(1)	7	Esophageal squamous(110;0.226)													0.134831	12.742896	24.254753	12	77	KEEP	---	---	---	---	capture		Silent	SNP	31768572	31768572	17176	19	G	T	T	T	577	45	TSHZ3	2	2
CD22	933	broad.mit.edu	37	19	35828663	35828663	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:35828663C>A	uc010edt.2	+	c.724C>A	c.(724-726)CCG>ACG	p.P242T	CD22_uc010xst.1_Missense_Mutation_p.P70T|CD22_uc010edu.2_Missense_Mutation_p.P242T|CD22_uc010edv.2_Missense_Mutation_p.P242T|CD22_uc002nzb.3_Intron|CD22_uc010edx.2_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	CD22 molecule precursor	242	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion		protein binding|sugar binding			ovary(4)	4	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	Ovarian(42;1009 1133 23674 26041)								0.382716	86.406066	87.382805	31	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35828663	35828663	3112	19	C	A	A	A	286	22	CD22	2	2
TJP3	27134	broad.mit.edu	37	19	3735930	3735930	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:3735930G>A	uc010xhv.1	+	c.1223G>A	c.(1222-1224)CGT>CAT	p.R408H	TJP3_uc010xhs.1_Missense_Mutation_p.R375H|TJP3_uc010xht.1_Missense_Mutation_p.R339H|TJP3_uc010xhu.1_Missense_Mutation_p.R384H|TJP3_uc010xhw.1_Missense_Mutation_p.R394H	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	389						tight junction	protein binding			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)										0.109453	16.809999	47.168482	22	179	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3735930	3735930	16460	19	G	A	A	A	520	40	TJP3	1	1
ZFP30	22835	broad.mit.edu	37	19	38126484	38126484	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38126484G>A	uc002ogv.1	-	c.958C>T	c.(958-960)CAT>TAT	p.H320Y	ZFP30_uc002ogw.1_Missense_Mutation_p.H320Y|ZFP30_uc002ogx.1_Missense_Mutation_p.H320Y|ZFP30_uc010xtt.1_Missense_Mutation_p.H319Y	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	zinc finger protein 30 homolog	320	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)											0.140187	21.245088	34.628649	15	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38126484	38126484	18232	19	G	A	A	A	585	45	ZFP30	2	2
CYP2A6	1548	broad.mit.edu	37	19	41349862	41349862	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:41349862C>G	uc002opl.3	-	c.1324G>C	c.(1324-1326)GAA>CAA	p.E442Q		NM_000762	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A,	442					coumarin catabolic process|exogenous drug catabolic process|oxidation-reduction process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)									0.192308	27.418081	32.016023	10	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41349862	41349862	4327	19	C	G	G	G	416	32	CYP2A6	3	3
PSG3	5671	broad.mit.edu	37	19	43233356	43233356	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43233356G>A	uc010eil.2	-	c.1228C>T	c.(1228-1230)CAT>TAT	p.H410Y	PSG3_uc002ouf.2_Non-coding_Transcript|PSG1_uc002oug.1_Missense_Mutation_p.H388Y|PSG3_uc002oue.2_Missense_Mutation_p.H388Y	NM_021016	NP_066296	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	388	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				ovary(1)	1		Prostate(69;0.00682)												0.455657	405.045549	405.614556	149	178	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43233356	43233356	13109	19	G	A	A	A	598	46	PSG3	2	2
PSG8	440533	broad.mit.edu	37	19	43259311	43259311	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43259311A>T	uc002ouo.2	-	c.817T>A	c.(817-819)TGG>AGG	p.W273R	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_Intron|PSG8_uc002oui.2_Missense_Mutation_p.W112R|PSG8_uc002ouh.2_Missense_Mutation_p.W273R|PSG8_uc010ein.2_Missense_Mutation_p.W151R|PSG8_uc002ouj.3_Missense_Mutation_p.W55R|PSG8_uc002ouk.3_Missense_Mutation_p.W112R|PSG8_uc002oul.3_Missense_Mutation_p.W273R|PSG8_uc002oum.3_Missense_Mutation_p.W180R|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.W180R	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8 isoform	273	Ig-like C2-type 2.					extracellular region					0		Prostate(69;0.00899)												0.497835	348.866055	348.866549	115	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43259311	43259311	13114	19	A	T	T	T	65	5	PSG8	3	3
IGFL4	444882	broad.mit.edu	37	19	46543514	46543514	+	Silent	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:46543514C>T	uc002pdy.1	-	c.231G>A	c.(229-231)CTG>CTA	p.L77L		NM_001002923	NP_001002923	Q6B9Z1	IGFL4_HUMAN	IGF-like family member 4 precursor	77						extracellular region					0		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)										0.238806	37.465595	41.640965	16	51	KEEP	---	---	---	---	capture		Silent	SNP	46543514	46543514	7890	19	C	T	T	T	262	21	IGFL4	2	2
SIGLEC9	27180	broad.mit.edu	37	19	51628974	51628974	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51628974T>C	uc010yct.1	+	c.542T>C	c.(541-543)ATA>ACA	p.I181T	SIGLEC9_uc002pvu.2_Missense_Mutation_p.I181T	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9 precursor	181	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding				0		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)										0.557823	298.272362	298.702244	82	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51628974	51628974	14810	19	T	C	C	C	637	49	SIGLEC9	4	4
CD33	945	broad.mit.edu	37	19	51729250	51729250	+	Nonsense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51729250C>T	uc002pwa.2	+	c.610C>T	c.(610-612)CAG>TAG	p.Q204*	CD33_uc010eos.1_Nonsense_Mutation_p.Q204*|CD33_uc010eot.1_Nonsense_Mutation_p.Q77*|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	CD33 antigen isoform 1 precursor	204	Extracellular (Potential).|Ig-like C2-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	integral to plasma membrane	receptor activity|sugar binding				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)									0.239437	35.531076	39.939833	17	54	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	51729250	51729250	3133	19	C	T	T	T	273	21	CD33	5	2
FPR3	2359	broad.mit.edu	37	19	52327946	52327946	+	Silent	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52327946C>A	uc002pxt.1	+	c.945C>A	c.(943-945)CGC>CGA	p.R315R		NM_002030	NP_002021	P25089	FPR3_HUMAN	formyl peptide receptor-like 2	315	Cytoplasmic (Potential).				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity				0														0.422222	162.24574	162.959704	57	78	KEEP	---	---	---	---	capture		Silent	SNP	52327946	52327946	6286	19	C	A	A	A	353	28	FPR3	2	2
PPP2R1A	5518	broad.mit.edu	37	19	52729033	52729033	+	Silent	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52729033C>T	uc002pyp.2	+	c.1725C>T	c.(1723-1725)GTC>GTT	p.V575V	PPP2R1A_uc010ydk.1_Silent_p.V520V|PPP2R1A_uc002pyq.2_Silent_p.V396V	NM_014225	NP_055040	P30153	2AAA_HUMAN	alpha isoform of regulatory subunit A, protein	575	PP2A subunit C binding.|HEAT 15.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			endometrium(24)|ovary(17)|breast(2)|lung(1)|skin(1)|kidney(1)|pancreas(1)	47				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)										0.110294	11.11659	31.567829	15	121	KEEP	---	---	---	---	capture		Silent	SNP	52729033	52729033	12818	19	C	T	T	T	366	29	PPP2R1A	2	2
ZNF611	81856	broad.mit.edu	37	19	53208717	53208717	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53208717C>G	uc002pzz.2	-	c.1591G>C	c.(1591-1593)GGT>CGT	p.G531R	ZNF611_uc010eqc.2_Missense_Mutation_p.G461R|ZNF611_uc010ydo.1_Missense_Mutation_p.G461R|ZNF611_uc010ydr.1_Missense_Mutation_p.G462R|ZNF611_uc010ydp.1_Missense_Mutation_p.G531R|ZNF611_uc010ydq.1_Missense_Mutation_p.G531R|ZNF611_uc002qaa.3_Missense_Mutation_p.G461R	NM_030972	NP_112234	Q8N823	ZN611_HUMAN	zinc finger protein 611 isoform a	531	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)										0.467532	368.789914	369.001082	108	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53208717	53208717	18632	19	C	G	G	G	312	24	ZNF611	3	3
NLRP12	91662	broad.mit.edu	37	19	54327411	54327411	+	Silent	SNP	G	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54327411G>C	uc002qcj.3	-	c.18C>G	c.(16-18)GGC>GGG	p.G6G	NLRP12_uc002qch.3_Silent_p.G6G|NLRP12_uc002qci.3_Silent_p.G6G|NLRP12_uc002qck.3_Non-coding_Transcript|NLRP12_uc010eqx.2_Silent_p.G6G	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	6	DAPIN.				activation of caspase activity|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|lung(1)	5	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)										0.232558	28.727393	31.543796	10	33	KEEP	---	---	---	---	capture		Silent	SNP	54327411	54327411	10877	19	G	C	C	C	587	46	NLRP12	3	3
KIR3DL1	3811	broad.mit.edu	37	19	55341634	55341634	+	Silent	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55341634C>A	uc002qhk.3	+	c.1239C>A	c.(1237-1239)CGC>CGA	p.R413R	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Silent_p.R338R|KIR3DL1_uc010esf.2_Silent_p.R318R|KIR3DL1_uc010yfo.1_Silent_p.R355R|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_5'Flank|KIR2DS4_uc002qhm.1_5'Flank	NM_013289	NP_037421	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three	413	Cytoplasmic (Potential).				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity			ovary(2)|kidney(1)	3				GBM - Glioblastoma multiforme(193;0.0192)										0.250729	195.187051	214.562803	86	257	KEEP	---	---	---	---	capture		Silent	SNP	55341634	55341634	8632	19	C	A	A	A	327	26	KIR3DL1	2	2
ZSCAN1	284312	broad.mit.edu	37	19	58565273	58565273	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58565273G>A	uc002qrc.1	+	c.1081G>A	c.(1081-1083)GTC>ATC	p.V361I		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	361					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)										0.218182	24.968798	28.997568	12	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58565273	58565273	18830	19	G	A	A	A	520	40	ZSCAN1	1	1
PNPLA6	10908	broad.mit.edu	37	19	7625548	7625548	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:7625548G>T	uc010xjq.1	+	c.3744G>T	c.(3742-3744)CAG>CAT	p.Q1248H	PNPLA6_uc002mgq.1_Missense_Mutation_p.Q1200H|PNPLA6_uc010xjp.1_Missense_Mutation_p.Q1173H|PNPLA6_uc002mgr.1_Missense_Mutation_p.Q1200H|PNPLA6_uc002mgs.2_Missense_Mutation_p.Q1238H|PNPLA6_uc002mgt.1_Non-coding_Transcript	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	1239	Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3														0.340909	42.708434	43.694163	15	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7625548	7625548	12596	19	G	T	T	T	464	36	PNPLA6	2	2
FBN3	84467	broad.mit.edu	37	19	8130912	8130912	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:8130912C>A	uc002mjf.2	-	c.8321G>T	c.(8320-8322)CGG>CTG	p.R2774L	FBN3_uc002mje.2_Missense_Mutation_p.R570L	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	2774						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|central_nervous_system(1)|pancreas(1)	8														0.30303	48.561434	50.855608	20	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8130912	8130912	5940	19	C	A	A	A	299	23	FBN3	1	1
FBN3	84467	broad.mit.edu	37	19	8194190	8194190	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:8194190G>T	uc002mjf.2	-	c.2104C>A	c.(2104-2106)CGG>AGG	p.R702R		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	702	EGF-like 8; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|central_nervous_system(1)|pancreas(1)	8														0.271186	37.988165	40.765664	16	43	KEEP	---	---	---	---	capture		Silent	SNP	8194190	8194190	5940	19	G	T	T	T	480	37	FBN3	1	1
MUC16	94025	broad.mit.edu	37	19	9012535	9012535	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9012535G>T	uc002mkp.2	-	c.38671C>A	c.(38671-38673)CTT>ATT	p.L12891I	MUC16_uc010xki.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12893	SEA 6.|Extracellular (Potential).			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.455882	183.864287	184.090067	62	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9012535	9012535	10367	19	G	T	T	T	442	34	MUC16	2	2
MUC16	94025	broad.mit.edu	37	19	9046404	9046404	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9046404C>T	uc002mkp.2	-	c.35227G>A	c.(35227-35229)GTG>ATG	p.V11743M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11745	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.544444	148.693315	148.850883	49	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9046404	9046404	10367	19	C	T	T	T	234	18	MUC16	2	2
MUC16	94025	broad.mit.edu	37	19	9046491	9046491	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9046491C>T	uc002mkp.2	-	c.35140G>A	c.(35140-35142)GAT>AAT	p.D11714N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11716	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.212963	53.36623	61.589255	23	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9046491	9046491	10367	19	C	T	T	T	416	32	MUC16	2	2
MUC16	94025	broad.mit.edu	37	19	9048898	9048899	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9048898_9048899GG>TT	uc002mkp.2	-	c.32732_32733CC>AA	c.(32731-32733)ACC>AAA	p.T10911K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10913	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.1875	44.912555	55.151883	21	91	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	9048898	9048899	10367	19	GG	TT	TT	TT	600	47	MUC16	2	2
MUC16	94025	broad.mit.edu	37	19	9072226	9072226	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9072226A>T	uc002mkp.2	-	c.15220T>A	c.(15220-15222)TCT>ACT	p.S5074T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5076	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.162011	49.777245	69.213269	29	150	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9072226	9072226	10367	19	A	T	T	T	143	11	MUC16	3	3
VCAM1	7412	broad.mit.edu	37	1	101194849	101194849	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:101194849C>A	uc001dti.2	+	c.1115C>A	c.(1114-1116)CCT>CAT	p.P372H	VCAM1_uc001dtj.2_Intron|VCAM1_uc010ouj.1_Missense_Mutation_p.P310H	NM_001078	NP_001069	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1 isoform a	372	Ig-like C2-type 4.|Extracellular (Potential).				B cell differentiation|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(1)	1		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)									0.094972	6.227225	35.727536	17	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101194849	101194849	17702	1	C	A	A	A	312	24	VCAM1	2	2
UBE4B	10277	broad.mit.edu	37	1	10211596	10211596	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:10211596C>T	uc001aqs.3	+	c.2903C>T	c.(2902-2904)CCT>CTT	p.P968L	UBE4B_uc001aqr.3_Missense_Mutation_p.P839L|UBE4B_uc010oai.1_Non-coding_Transcript|UBE4B_uc010oaj.1_Missense_Mutation_p.P423L|UBE4B_uc001aqt.1_Missense_Mutation_p.P308L	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	968					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(1)	3		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)										0.210843	87.223282	100.069894	35	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10211596	10211596	17441	1	C	T	T	T	312	24	UBE4B	2	2
KCND3	3752	broad.mit.edu	37	1	112318702	112318702	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:112318702C>A	uc001ebu.1	-	c.1965G>T	c.(1963-1965)TTG>TTT	p.L655F	KCND3_uc001ebv.1_Missense_Mutation_p.L636F	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	655	Cytoplasmic (Potential).					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			ovary(2)|large_intestine(1)	3		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)										0.106383	8.977165	23.444955	10	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112318702	112318702	8325	1	C	A	A	A	220	17	KCND3	2	2
AMPD1	270	broad.mit.edu	37	1	115220534	115220534	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:115220534G>C	uc001efe.1	-	c.1221C>G	c.(1219-1221)ATC>ATG	p.I407M	AMPD1_uc001eff.1_Missense_Mutation_p.I403M	NM_000036	NP_000027	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1 (isoform M)	407					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)									0.231214	124.810245	136.259296	40	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115220534	115220534	588	1	G	C	C	C	577	45	AMPD1	3	3
TBX15	6913	broad.mit.edu	37	1	119427774	119427774	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:119427774C>A	uc001ehl.1	-	c.1072G>T	c.(1072-1074)GCC>TCC	p.A358S	TBX15_uc009whj.1_Missense_Mutation_p.A182S	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	T-box 15	464					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|pancreas(1)	2	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)										0.111111	6.987628	16.400417	7	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119427774	119427774	16178	1	C	A	A	A	364	28	TBX15	2	2
TBX15	6913	broad.mit.edu	37	1	119427872	119427872	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:119427872G>T	uc001ehl.1	-	c.974C>A	c.(973-975)GCC>GAC	p.A325D	TBX15_uc009whj.1_Missense_Mutation_p.A149D	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	T-box 15	431					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|pancreas(1)	2	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)										0.12963	8.48326	15.699291	7	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119427872	119427872	16178	1	G	T	T	T	546	42	TBX15	2	2
MFN2	9927	broad.mit.edu	37	1	12061527	12061527	+	Nonsense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:12061527C>T	uc001atn.3	+	c.886C>T	c.(886-888)CAG>TAG	p.Q296*	MFN2_uc009vni.2_Nonsense_Mutation_p.Q296*	NM_014874	NP_055689	O95140	MFN2_HUMAN	mitofusin 2	296	Cytoplasmic (Potential).				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)										0.176471	12.228042	15.583131	6	28	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	12061527	12061527	9914	1	C	T	T	T	273	21	MFN2	5	2
TNFRSF1B	7133	broad.mit.edu	37	1	12251948	12251948	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:12251948A>T	uc001att.2	+	c.425A>T	c.(424-426)AAG>ATG	p.K142M	TNFRSF1B_uc001atu.2_De_novo_Start_InFrame|TNFRSF1B_uc009vnk.2_Non-coding_Transcript	NM_001066	NP_001057	P20333	TNR1B_HUMAN	tumor necrosis factor receptor 2 precursor	142	TNFR-Cys 3.|Extracellular (Potential).				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			liver(1)|central_nervous_system(1)	2	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)					222				0.259259	15.511642	16.929913	7	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12251948	12251948	16835	1	A	T	T	T	39	3	TNFRSF1B	3	3
PRAMEF2	65122	broad.mit.edu	37	1	12919018	12919018	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:12919018C>A	uc001aum.1	+	c.154C>A	c.(154-156)CTG>ATG	p.L52M		NM_023014	NP_075390	O60811	PRAM2_HUMAN	PRAME family member 2	52											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)										0.23741	69.693634	78.462266	33	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12919018	12919018	12872	1	C	A	A	A	415	32	PRAMEF2	2	2
ANKRD35	148741	broad.mit.edu	37	1	145561457	145561457	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:145561457C>T	uc001eob.1	+	c.1145C>T	c.(1144-1146)ACA>ATA	p.T382I	NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.T225I	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	382										ovary(4)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					Melanoma(9;127 754 22988 51047)								0.310345	42.723285	44.584828	18	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145561457	145561457	672	1	C	T	T	T	221	17	ANKRD35	2	2
TUFT1	7286	broad.mit.edu	37	1	151537034	151537034	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:151537034A>G	uc001eyl.2	+	c.358A>G	c.(358-360)ATA>GTA	p.I120V	TUFT1_uc001eym.2_Missense_Mutation_p.I95V|TUFT1_uc010pdf.1_Missense_Mutation_p.I139V|TUFT1_uc010pdg.1_Missense_Mutation_p.I68V	NM_020127	NP_064512	Q9NNX1	TUFT1_HUMAN	tuftelin 1 isoform 1	120	Potential.				bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel				0	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)							527				0.148649	24.283713	33.042043	11	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151537034	151537034	17327	1	A	G	G	G	208	16	TUFT1	4	4
FLG	2312	broad.mit.edu	37	1	152282982	152282982	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152282982G>T	uc001ezu.1	-	c.4380C>A	c.(4378-4380)CCC>CCA	p.P1460P		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1460	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)	9	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.126033	69.970979	136.07304	61	423	KEEP	---	---	---	---	capture		Silent	SNP	152282982	152282982	6160	1	G	T	T	T	600	47	FLG	2	2
KPRP	448834	broad.mit.edu	37	1	152733252	152733252	+	Silent	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152733252G>A	uc001fal.1	+	c.1188G>A	c.(1186-1188)CTG>CTA	p.L396L		NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	396	Pro-rich.					cytoplasm				ovary(4)|pancreas(1)	5	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.225225	50.808363	58.516452	25	86	KEEP	---	---	---	---	capture		Silent	SNP	152733252	152733252	8751	1	G	A	A	A	587	46	KPRP	2	2
PGLYRP4	57115	broad.mit.edu	37	1	153312856	153312856	+	Splice_Site_SNP	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:153312856C>A	uc001fbo.2	-	c.824_splice	c.e7+1	p.N275_splice	PGLYRP4_uc001fbp.2_Splice_Site_SNP_p.N271_splice	NM_020393	NP_065126			peptidoglycan recognition protein-I-beta						defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity			ovary(3)	3	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)											0.445122	226.459404	226.88839	73	91	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	153312856	153312856	12219	1	C	A	A	A	260	20	PGLYRP4	5	2
INTS3	65123	broad.mit.edu	37	1	153745702	153745702	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:153745702C>T	uc009wom.2	+	c.3085C>T	c.(3085-3087)CGG>TGG	p.R1029W	INTS3_uc001fct.2_Missense_Mutation_p.R1029W|INTS3_uc001fcu.2_Missense_Mutation_p.R721W|INTS3_uc001fcv.2_Missense_Mutation_p.R823W|INTS3_uc010peb.1_Missense_Mutation_p.R889W|INTS3_uc001fcw.2_Missense_Mutation_p.R542W|INTS3_uc010pec.1_Missense_Mutation_p.R542W|INTS3_uc001fcy.2_Missense_Mutation_p.R392W|INTS3_uc001fcx.2_Missense_Mutation_p.R326W	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	1030					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)	2	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)											0.085809	0.914015	53.61369	26	277	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153745702	153745702	8080	1	C	T	T	T	347	27	INTS3	1	1
CHRNB2	1141	broad.mit.edu	37	1	154544111	154544111	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:154544111C>A	uc001ffg.2	+	c.812C>A	c.(811-813)TCA>TAA	p.S271*		NM_000748	NP_000739	P17787	ACHB2_HUMAN	neuronal nicotinic acetylcholine receptor beta 2	271	Helical; (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)									0.138776	46.169398	77.089186	34	211	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	154544111	154544111	3525	1	C	A	A	A	377	29	CHRNB2	5	2
ADAR	103	broad.mit.edu	37	1	154571062	154571062	+	Splice_Site_SNP	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:154571062C>A	uc001ffh.2	-	c.1602_splice	c.e3-1	p.R534_splice	ADAR_uc001ffj.2_Splice_Site_SNP_p.R534_splice|ADAR_uc001ffi.2_Splice_Site_SNP_p.R534_splice|ADAR_uc001ffk.2_Splice_Site_SNP_p.R239_splice	NM_001111	NP_001102			adenosine deaminase, RNA-specific isoform a						adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			ovary(3)|breast(1)|central_nervous_system(1)	5	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)										0.087558	2.543411	39.909248	19	198	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	154571062	154571062	282	1	C	A	A	A	416	32	ADAR	5	2
ARHGEF2	9181	broad.mit.edu	37	1	155931973	155931973	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155931973T>A	uc001fmu.2	-	c.1274A>T	c.(1273-1275)CAG>CTG	p.Q425L	ARHGEF2_uc001fmr.2_Missense_Mutation_p.Q353L|ARHGEF2_uc001fms.2_Missense_Mutation_p.Q380L|ARHGEF2_uc001fmt.2_Missense_Mutation_p.Q381L|ARHGEF2_uc010pgt.1_Missense_Mutation_p.Q354L|ARHGEF2_uc010pgu.1_Missense_Mutation_p.Q426L	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor 2	381	DH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			ovary(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					Melanoma(178;35 2768 6610 28839)								0.10989	19.694836	47.086495	20	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155931973	155931973	917	1	T	A	A	A	715	55	ARHGEF2	3	3
GPATCH4	54865	broad.mit.edu	37	1	156565192	156565192	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156565192C>T	uc001fpm.2	-	c.941G>A	c.(940-942)GGA>GAA	p.G314E	APOA1BP_uc010php.1_Intron|GPATCH4_uc001fpl.2_Missense_Mutation_p.G309E	NM_015590	NP_056405	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4 isoform 1	309						intracellular	nucleic acid binding			ovary(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)													0.081712	-0.275909	91.316721	42	472	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156565192	156565192	6867	1	C	T	T	T	390	30	GPATCH4	2	2
BCAN	63827	broad.mit.edu	37	1	156617860	156617860	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156617860G>T	uc001fpp.2	+	c.727G>T	c.(727-729)GAT>TAT	p.D243Y	BCAN_uc001fpo.2_Missense_Mutation_p.D243Y	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	243	Link 1.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)													0.429577	323.462228	324.696764	122	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156617860	156617860	1366	1	G	T	T	T	533	41	BCAN	2	2
CELA2A	63036	broad.mit.edu	37	1	15789916	15789916	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:15789916T>A	uc001awk.2	+	c.392T>A	c.(391-393)GTC>GAC	p.V131D		NM_033440	NP_254275	P08217	CEL2A_HUMAN	elastase 2A preproprotein	131	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2														0.209877	34.039371	40.344626	17	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15789916	15789916	3344	1	T	A	A	A	754	58	CELA2A	3	3
OR10X1	128367	broad.mit.edu	37	1	158548798	158548798	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158548798G>T	uc010pin.1	-	c.892C>A	c.(892-894)CTC>ATC	p.L298I		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X,	298	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)													0.167614	103.579145	140.457939	59	293	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158548798	158548798	11328	1	G	T	T	T	455	35	OR10X1	2	2
OLFML2B	25903	broad.mit.edu	37	1	161953963	161953963	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161953963G>T	uc010pkq.1	-	c.1758C>A	c.(1756-1758)ATC>ATA	p.I586I	OLFML2B_uc001gbt.2_Silent_p.I68I|OLFML2B_uc001gbu.2_Silent_p.I585I	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	585	Olfactomedin-like.										0	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)											0.125984	18.201913	35.559429	16	111	KEEP	---	---	---	---	capture		Silent	SNP	161953963	161953963	11263	1	G	T	T	T	577	45	OLFML2B	2	2
CLCNKA	1187	broad.mit.edu	37	1	16352635	16352635	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:16352635G>C	uc001axu.2	+	c.391G>C	c.(391-393)GCG>CCG	p.A131P	CLCNKA_uc001axt.2_Non-coding_Transcript|CLCNKA_uc001axv.2_Missense_Mutation_p.A131P|CLCNKA_uc010obw.1_Missense_Mutation_p.A88P|CLCNKB_uc001axw.3_Intron|CLCNKA_uc010obx.1_5'Flank|CLCNKA_uc010oby.1_5'Flank	NM_004070	NP_004061	P51800	CLCKA_HUMAN	chloride channel Ka isoform 1	131					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)									0.202279	195.523004	224.423787	71	280	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16352635	16352635	3605	1	G	C	C	C	546	42	CLCNKA	3	3
C1orf129	80133	broad.mit.edu	37	1	170964579	170964579	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:170964579C>T	uc010plz.1	+	c.1244C>T	c.(1243-1245)GCG>GTG	p.A415V	C1orf129_uc009wvy.2_Missense_Mutation_p.A222V|C1orf129_uc001ghg.2_Missense_Mutation_p.A415V	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	hypothetical protein LOC80133 isoform 1	415							binding			pancreas(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)													0.132353	23.695233	41.519445	18	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170964579	170964579	2063	1	C	T	T	T	351	27	C1orf129	1	1
PADI1	29943	broad.mit.edu	37	1	17570704	17570704	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:17570704C>A	uc001bah.1	+	c.1958C>A	c.(1957-1959)CCC>CAC	p.P653H	PADI1_uc010oco.1_Missense_Mutation_p.P210H|PADI1_uc010ocp.1_Missense_Mutation_p.P168H|PADI1_uc010ocq.1_Missense_Mutation_p.P124H|PADI1_uc009vpb.1_Missense_Mutation_p.P47T	NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	peptidylarginine deiminase type I	653					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity				0		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	Esophageal Squamous(80;414 1257 4580 27746 50832)								0.24	48.937534	55.12037	24	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17570704	17570704	11793	1	C	A	A	A	286	22	PADI1	2	2
PADI4	23569	broad.mit.edu	37	1	17668497	17668497	+	Silent	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:17668497C>T	uc001baj.2	+	c.712C>T	c.(712-714)CTG>TTG	p.L238L	PADI4_uc009vpc.2_Silent_p.L238L	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	238					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)									0.210526	28.973214	33.388579	12	45	KEEP	---	---	---	---	capture		Silent	SNP	17668497	17668497	11796	1	C	T	T	T	311	24	PADI4	2	2
LAMC2	3918	broad.mit.edu	37	1	183190027	183190027	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:183190027G>A	uc001gqa.2	+	c.571G>A	c.(571-573)GGG>AGG	p.G191R	LAMC2_uc001gpz.3_Missense_Mutation_p.G191R|LAMC2_uc010poa.1_5'UTR	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	191	Laminin EGF-like 4; first part.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			ovary(1)	1														0.21875	29.311526	33.980517	14	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183190027	183190027	8938	1	G	A	A	A	611	47	LAMC2	2	2
IGSF21	84966	broad.mit.edu	37	1	18691926	18691926	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:18691926G>T	uc001bau.1	+	c.750G>T	c.(748-750)CTG>CTT	p.L250L	IGSF21_uc001bav.1_Silent_p.L71L	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21 precursor	250						extracellular region				ovary(2)|large_intestine(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)										0.237838	92.882105	104.526253	44	141	KEEP	---	---	---	---	capture		Silent	SNP	18691926	18691926	7900	1	G	T	T	T	574	45	IGSF21	2	2
ATP2B4	493	broad.mit.edu	37	1	203693068	203693068	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:203693068G>T	uc001gzw.2	+	c.3084G>T	c.(3082-3084)CAG>CAT	p.Q1028H	ATP2B4_uc001gzv.2_Missense_Mutation_p.Q1028H|ATP2B4_uc009xaq.2_Missense_Mutation_p.Q1028H|ATP2B4_uc001gzx.2_Missense_Mutation_p.Q59H|ATP2B4_uc009xar.2_Intron	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	1028	Helical; (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)	2	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)											0.474419	316.302852	316.426904	102	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	203693068	203693068	1161	1	G	T	T	T	464	36	ATP2B4	2	2
CNTN2	6900	broad.mit.edu	37	1	205027166	205027166	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:205027166C>T	uc001hbr.2	+	c.188C>T	c.(187-189)GCC>GTC	p.A63V	CNTN2_uc001hbq.1_5'UTR|CNTN2_uc009xbi.2_5'Flank|CNTN2_uc001hbs.2_5'Flank	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	63	Ig-like C2-type 1.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			ovary(1)	1	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			Melanoma(183;2548 2817 37099 41192)								0.116667	5.675302	14.373159	7	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	205027166	205027166	3779	1	C	T	T	T	338	26	CNTN2	2	2
IL24	11009	broad.mit.edu	37	1	207074989	207074989	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:207074989C>A	uc001heu.1	+	c.457C>A	c.(457-459)CAA>AAA	p.Q153K	IL24_uc001hes.1_Missense_Mutation_p.Q152K|IL24_uc001het.1_5'UTR|IL24_uc001hev.1_Non-coding_Transcript|IL24_uc001hew.1_Intron|IL24_uc001hex.1_Intron	NM_006850	NP_006841	Q13007	IL24_HUMAN	interleukin 24 isoform 1 precursor	152					apoptosis	extracellular space	cytokine activity				0	Breast(84;0.201)													0.151163	22.015386	32.043507	13	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	207074989	207074989	7978	1	C	A	A	A	325	25	IL24	2	2
CR1L	1379	broad.mit.edu	37	1	207871002	207871002	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:207871002C>G	uc001hga.3	+	c.1017C>G	c.(1015-1017)AGC>AGG	p.S339R	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	339	Sushi 5.					cytoplasm|extracellular region|membrane					0														0.115152	60.654659	108.763007	38	292	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	207871002	207871002	3980	1	C	G	G	G	337	26	CR1L	3	3
KCNK2	3776	broad.mit.edu	37	1	215259917	215259917	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:215259917C>A	uc001hkq.2	+	c.253C>A	c.(253-255)CAG>AAG	p.Q85K	KCNK2_uc001hko.2_Missense_Mutation_p.Q81K|KCNK2_uc009xdm.2_Non-coding_Transcript|KCNK2_uc001hkp.2_Non-coding_Transcript|KCNK2_uc010pua.1_Non-coding_Transcript|KCNK2_uc001hkr.3_Missense_Mutation_p.Q70K	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2 isoform	85							outward rectifier potassium channel activity				0				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)									0.40708	132.822141	133.676431	46	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	215259917	215259917	8371	1	C	A	A	A	325	25	KCNK2	2	2
USH2A	7399	broad.mit.edu	37	1	215960159	215960159	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:215960159C>T	uc001hku.1	-	c.10240G>A	c.(10240-10242)GGC>AGC	p.G3414S		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3414	Fibronectin type-III 19.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.428571	24.069493	24.16334	9	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	215960159	215960159	17598	1	C	T	T	T	273	21	USH2A	2	2
USH2A	7399	broad.mit.edu	37	1	216373152	216373152	+	Silent	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216373152G>A	uc001hku.1	-	c.3628C>T	c.(3628-3630)CTG>TTG	p.L1210L	USH2A_uc001hkv.2_Silent_p.L1210L	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1210	Extracellular (Potential).|Fibronectin type-III 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.14433	24.0799	35.896031	14	83	KEEP	---	---	---	---	capture		Silent	SNP	216373152	216373152	17598	1	G	A	A	A	425	33	USH2A	2	2
HSPG2	3339	broad.mit.edu	37	1	22157584	22157584	+	Splice_Site_SNP	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:22157584C>G	uc009vqd.2	-	c.11566_splice	c.e85-1	p.N3856_splice	HSPG2_uc001bfi.2_5'Flank|HSPG2_uc001bfj.2_Splice_Site_SNP_p.N3855_splice	NM_005529	NP_005520			heparan sulfate proteoglycan 2 precursor						angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)	8		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)									0.222222	11.89024	13.167796	4	14	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	22157584	22157584	7730	1	C	G	G	G	416	32	HSPG2	5	3
TMEM63A	9725	broad.mit.edu	37	1	226054364	226054364	+	Silent	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:226054364C>A	uc001hpm.1	-	c.585G>T	c.(583-585)CTG>CTT	p.L195L	TMEM63A_uc010pvi.1_Silent_p.L195L	NM_014698	NP_055513	O94886	TM63A_HUMAN	transmembrane protein 63A	195	Helical; (Potential).					integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)													0.137255	10.3886	16.88397	7	44	KEEP	---	---	---	---	capture		Silent	SNP	226054364	226054364	16729	1	C	A	A	A	314	25	TMEM63A	2	2
LUZP1	7798	broad.mit.edu	37	1	23417697	23417697	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:23417697G>A	uc001bgk.2	-	c.3058C>T	c.(3058-3060)CAC>TAC	p.H1020Y	LUZP1_uc010odv.1_Missense_Mutation_p.H1020Y|LUZP1_uc001bgl.2_Missense_Mutation_p.H1020Y|LUZP1_uc001bgm.1_Missense_Mutation_p.H1020Y	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	1020						nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)										0.307692	9.894862	10.323627	4	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23417697	23417697	9462	1	G	A	A	A	611	47	LUZP1	2	2
ACTN2	88	broad.mit.edu	37	1	236881170	236881170	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236881170T>A	uc001hyf.2	+	c.139T>A	c.(139-141)TGG>AGG	p.W47R	ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Missense_Mutation_p.W47R	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	47	CH 1.|Actin-binding.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)	4	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)											0.269231	34.326248	36.826188	14	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	236881170	236881170	206	1	T	A	A	A	715	55	ACTN2	3	3
RYR2	6262	broad.mit.edu	37	1	237791358	237791358	+	Nonsense_Mutation	SNP	A	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237791358A>T	uc001hyl.1	+	c.6418A>T	c.(6418-6420)AAG>TAG	p.K2140*		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2140	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)											0.240964	43.457303	48.540936	20	63	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	237791358	237791358	14249	1	A	T	T	T	117	9	RYR2	5	3
RYR2	6262	broad.mit.edu	37	1	237893570	237893570	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237893570G>C	uc001hyl.1	+	c.10849G>C	c.(10849-10851)GTC>CTC	p.V3617L	RYR2_uc010pya.1_Missense_Mutation_p.V13L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3617					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)											0.139535	11.416794	16.820031	6	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237893570	237893570	14249	1	G	C	C	C	624	48	RYR2	3	3
RYR2	6262	broad.mit.edu	37	1	237947412	237947412	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237947412G>T	uc001hyl.1	+	c.12400G>T	c.(12400-12402)GGC>TGC	p.G4134C	RYR2_uc010pya.1_Missense_Mutation_p.G549C	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4134					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)											0.258621	68.726083	74.832296	30	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237947412	237947412	14249	1	G	T	T	T	559	43	RYR2	2	2
RYR2	6262	broad.mit.edu	37	1	237947550	237947550	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237947550G>T	uc001hyl.1	+	c.12538G>T	c.(12538-12540)GGC>TGC	p.G4180C	RYR2_uc010pya.1_Missense_Mutation_p.G595C	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4180					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)											0.128205	24.894966	45.908466	20	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237947550	237947550	14249	1	G	T	T	T	455	35	RYR2	2	2
PGBD2	267002	broad.mit.edu	37	1	249211025	249211025	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:249211025G>T	uc001ifh.2	+	c.242G>T	c.(241-243)TGT>TTT	p.C81F	PGBD2_uc001ifg.2_Intron|PGBD2_uc009xhd.2_Missense_Mutation_p.C78F	NM_170725	NP_733843	Q6P3X8	PGBD2_HUMAN	hypothetical protein LOC267002 isoform a	81										ovary(1)	1	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)											0.173077	17.941243	23.191077	9	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	249211025	249211025	12204	1	G	T	T	T	624	48	PGBD2	2	2
DHDDS	79947	broad.mit.edu	37	1	26784343	26784343	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:26784343A>T	uc001bmk.2	+	c.604A>T	c.(604-606)ATC>TTC	p.I202F	DHDDS_uc001bml.2_Missense_Mutation_p.I202F|DHDDS_uc001bmm.2_Missense_Mutation_p.I109F|DHDDS_uc001bmn.2_Missense_Mutation_p.I163F|DHDDS_uc010ofd.1_Missense_Mutation_p.I168F	NM_024887	NP_079163	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase isoform a	202							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(3)	3		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)										0.23301	128.100342	141.540562	48	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26784343	26784343	4657	1	A	T	T	T	104	8	DHDDS	3	3
AHDC1	27245	broad.mit.edu	37	1	27877209	27877209	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:27877209C>A	uc009vsy.2	-	c.1418G>T	c.(1417-1419)CGC>CTC	p.R473L	AHDC1_uc009vsz.1_Missense_Mutation_p.R473L	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	473							DNA binding			central_nervous_system(1)	1		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)										0.333333	11.796484	12.091449	4	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27877209	27877209	415	1	C	A	A	A	351	27	AHDC1	1	1
ACTRT2	140625	broad.mit.edu	37	1	2938328	2938328	+	Silent	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:2938328T>A	uc001ajz.2	+	c.78T>A	c.(76-78)TCT>TCA	p.S26S		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	actin-related protein M2	26						cytoplasm|cytoskeleton					0	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)										0.166667	14.170078	19.228103	8	40	KEEP	---	---	---	---	capture		Silent	SNP	2938328	2938328	220	1	T	A	A	A	704	55	ACTRT2	3	3
SFRS4	6429	broad.mit.edu	37	1	29476680	29476680	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:29476680G>T	uc001bro.2	-	c.603C>A	c.(601-603)TCC>TCA	p.S201S	SFRS4_uc010ofy.1_Intron	NM_005626	NP_005617	Q08170	SRSF4_HUMAN	splicing factor, arginine/serine-rich 4	201	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding				0		Colorectal(325;0.00161)|Breast(348;0.0364)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0529)|Lung NSC(340;0.0654)|all_lung(284;0.074)|Ovarian(437;0.104)|Medulloblastoma(700;0.151)		Colorectal(126;1.01e-07)|COAD - Colon adenocarcinoma(152;6.21e-06)|STAD - Stomach adenocarcinoma(196;0.0196)|BRCA - Breast invasive adenocarcinoma(304;0.0531)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.138)										0.126904	31.488363	58.198677	25	172	KEEP	---	---	---	---	capture		Silent	SNP	29476680	29476680	14669	1	G	T	T	T	548	43	SFRS4	2	2
TMEM39B	55116	broad.mit.edu	37	1	32566053	32566053	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:32566053G>A	uc001bue.3	+	c.1129G>A	c.(1129-1131)GAA>AAA	p.E377K	TMEM39B_uc010ogt.1_Non-coding_Transcript|TMEM39B_uc010ogu.1_Missense_Mutation_p.E249K|TMEM39B_uc010ogv.1_Missense_Mutation_p.E376K|TMEM39B_uc001buf.3_Missense_Mutation_p.E177K|TMEM39B_uc010ogw.1_Missense_Mutation_p.E177K	NM_018056	NP_060526	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	376						integral to membrane					0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)												0.15	10.620429	15.322227	6	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32566053	32566053	16701	1	G	A	A	A	429	33	TMEM39B	2	2
CSMD2	114784	broad.mit.edu	37	1	33998682	33998682	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:33998682C>A	uc001bxm.1	-	c.10139G>T	c.(10138-10140)GGC>GTC	p.G3380V	CSMD2_uc001bxn.1_Missense_Mutation_p.G3236V	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3236	Sushi 26.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(5)|pancreas(1)	6		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)												0.306122	38.011283	39.651437	15	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33998682	33998682	4086	1	C	A	A	A	338	26	CSMD2	2	2
GRIK3	2899	broad.mit.edu	37	1	37324781	37324781	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:37324781G>T	uc001caz.2	-	c.1032C>A	c.(1030-1032)ACC>ACA	p.T344T	GRIK3_uc001cba.1_Silent_p.T344T	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	344	Extracellular (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|large_intestine(1)|breast(1)	5		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)									0.136095	35.219203	56.887191	23	146	KEEP	---	---	---	---	capture		Silent	SNP	37324781	37324781	7054	1	G	T	T	T	496	39	GRIK3	1	1
SNIP1	79753	broad.mit.edu	37	1	38019721	38019721	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:38019721T>A	uc001cbi.2	-	c.110A>T	c.(109-111)GAA>GTA	p.E37V	SNIP1_uc010oid.1_Non-coding_Transcript|DNALI1_uc001cbj.2_5'Flank|DNALI1_uc010oie.1_5'Flank	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein	37					production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			lung(1)	1		Myeloproliferative disorder(586;0.0393)												0.384615	38.414974	38.870225	15	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38019721	38019721	15348	1	T	A	A	A	806	62	SNIP1	3	3
KIAA0754	643314	broad.mit.edu	37	1	39880114	39880114	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:39880114C>A	uc009vvt.1	+	c.4177C>A	c.(4177-4179)CCT>ACT	p.P1393T	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	1257											0	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)											0.2	17.749277	21.517458	9	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39880114	39880114	8499	1	C	A	A	A	338	26	KIAA0754	2	2
KIF2C	11004	broad.mit.edu	37	1	45232525	45232525	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:45232525G>T	uc001cmg.3	+	c.1999G>T	c.(1999-2001)GAG>TAG	p.E667*	KIF2C_uc010olb.1_Nonsense_Mutation_p.E626*|KIF2C_uc010olc.1_Nonsense_Mutation_p.E554*|KIF2C_uc001cmh.3_Nonsense_Mutation_p.E613*	NM_006845	NP_006836	Q99661	KIF2C_HUMAN	kinesin family member 2C	667					blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)													0.444444	50.590587	50.711194	20	25	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	45232525	45232525	8610	1	G	T	T	T	585	45	KIF2C	5	2
MUTYH	4595	broad.mit.edu	37	1	45797911	45797911	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:45797911G>T	uc009vxp.2	-	c.860C>A	c.(859-861)GCC>GAC	p.A287D	MUTYH_uc009vxn.2_Missense_Mutation_p.A109D|MUTYH_uc001cnf.2_Missense_Mutation_p.A259D|MUTYH_uc009vxo.2_Missense_Mutation_p.A259D|MUTYH_uc001cng.2_Missense_Mutation_p.A270D|MUTYH_uc001cnj.2_Missense_Mutation_p.A167D|MUTYH_uc001cni.2_Missense_Mutation_p.A259D|MUTYH_uc001cnh.2_Missense_Mutation_p.A260D|MUTYH_uc001cno.2_Missense_Mutation_p.A167D|MUTYH_uc001cnk.2_Missense_Mutation_p.A144D|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnm.2_Missense_Mutation_p.A284D|MUTYH_uc001cnl.2_Missense_Mutation_p.A273D|MUTYH_uc001cnn.2_Missense_Mutation_p.A274D	NM_001128425	NP_001121897	Q9UIF7	MUTYH_HUMAN	mutY homolog isoform 5	284					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding				0	Acute lymphoblastic leukemia(166;0.155)									162				0.185185	18.442225	23.450265	10	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45797911	45797911	10387	1	G	T	T	T	546	42	MUTYH	2	2
TMEM69	51249	broad.mit.edu	37	1	46159475	46159475	+	Silent	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:46159475G>A	uc001cor.1	+	c.642G>A	c.(640-642)CTG>CTA	p.L214L		NM_016486	NP_057570	Q5SWH9	TMM69_HUMAN	transmembrane protein 69	214						integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)													0.090909	1.689807	23.977077	12	120	KEEP	---	---	---	---	capture		Silent	SNP	46159475	46159475	16737	1	G	A	A	A	574	45	TMEM69	2	2
IPP	3652	broad.mit.edu	37	1	46206734	46206734	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:46206734C>T	uc001cou.2	-	c.563G>A	c.(562-564)CGA>CAA	p.R188Q	IPP_uc001cos.3_Missense_Mutation_p.R188Q	NM_005897	NP_005888	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	188						actin cytoskeleton|cytoplasm	actin binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)													0.116402	24.434374	51.786461	22	167	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46206734	46206734	8101	1	C	T	T	T	403	31	IPP	1	1
RAD54L	8438	broad.mit.edu	37	1	46727024	46727024	+	Silent	SNP	G	A	A	rs58878309		TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:46727024G>A	uc009vye.2	+	c.858G>A	c.(856-858)CAG>CAA	p.Q286Q	RAD54L_uc001cpl.2_Silent_p.Q286Q|RAD54L_uc001cpm.1_Silent_p.Q106Q	NM_001142548	NP_001136020	Q92698	RAD54_HUMAN	RAD54-like protein	286	Helicase ATP-binding.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)										0.113636	11.18107	24.144148	10	78	KEEP	---	---	---	---	capture		Silent	SNP	46727024	46727024	13453	1	G	A	A	A	425	33	RAD54L	2	2
CYP4Z1	199974	broad.mit.edu	37	1	47582406	47582406	+	Splice_Site_SNP	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:47582406T>A	uc001cqu.1	+	c.1349_splice	c.e11+2	p.R450_splice		NM_178134	NP_835235			cytochrome P450 4Z1						oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding				0														0.128205	6.05251	11.303551	5	34	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	47582406	47582406	4359	1	T	A	A	A	741	57	CYP4Z1	5	3
AJAP1	55966	broad.mit.edu	37	1	4832465	4832465	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:4832465C>A	uc001alm.1	+	c.1043C>A	c.(1042-1044)ACG>AAG	p.T348K	AJAP1_uc001aln.2_Missense_Mutation_p.T348K	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN	adherens junction associated protein 1	348	Targeting signals.|Cytoplasmic (Potential).				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				lung(1)	1	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)										0.230769	38.491927	42.808852	15	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4832465	4832465	441	1	C	A	A	A	247	19	AJAP1	1	1
SLC5A9	200010	broad.mit.edu	37	1	48708153	48708153	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:48708153C>T	uc001crn.2	+	c.1777C>T	c.(1777-1779)CGG>TGG	p.R593W	SLC5A9_uc001cro.2_Missense_Mutation_p.R568W|SLC5A9_uc010omt.1_Missense_Mutation_p.R582W|SLC5A9_uc001crp.2_Missense_Mutation_p.R235W|SLC5A9_uc010omu.1_Missense_Mutation_p.R235W|SLC5A9_uc009vyt.1_Non-coding_Transcript	NM_001135181	NP_001128653	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/glucose	568	Cytoplasmic (Potential).					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			ovary(3)	3														0.157534	39.032964	55.365892	23	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48708153	48708153	15169	1	C	T	T	T	399	31	SLC5A9	1	1
C8A	731	broad.mit.edu	37	1	57349153	57349153	+	Splice_Site_SNP	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:57349153G>T	uc001cyo.2	+	c.655_splice	c.e6-1	p.A219_splice		NM_000562	NP_000553			complement component 8, alpha polypeptide						complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				ovary(1)|central_nervous_system(1)	2														0.225	36.894192	42.467631	18	62	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	57349153	57349153	2525	1	G	T	T	T	455	35	C8A	5	2
C8B	732	broad.mit.edu	37	1	57420396	57420396	+	Missense_Mutation	SNP	T	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:57420396T>G	uc001cyp.2	-	c.496A>C	c.(496-498)ATG>CTG	p.M166L	C8B_uc010oon.1_Missense_Mutation_p.M104L|C8B_uc010ooo.1_Missense_Mutation_p.M114L	NM_000066	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	166	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				central_nervous_system(2)|large_intestine(1)|ovary(1)	4														0.154412	49.888669	65.40824	21	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57420396	57420396	2526	1	T	G	G	G	676	52	C8B	4	4
DOCK7	85440	broad.mit.edu	37	1	62979532	62979532	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:62979532C>A	uc001daq.2	-	c.3974G>T	c.(3973-3975)AGT>ATT	p.S1325I	DOCK7_uc001dan.2_Missense_Mutation_p.S1186I|DOCK7_uc001dao.2_Missense_Mutation_p.S1186I|DOCK7_uc001dap.2_Missense_Mutation_p.S1294I|DOCK7_uc001dam.2_Missense_Mutation_p.S505I|DOCK7_uc010oov.1_Intron	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1325					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2														0.095652	6.340941	25.20286	11	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62979532	62979532	4876	1	C	A	A	A	260	20	DOCK7	2	2
LRRC7	57554	broad.mit.edu	37	1	70488916	70488916	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:70488916G>C	uc001dep.2	+	c.1539G>C	c.(1537-1539)CAG>CAC	p.Q513H	LRRC7_uc009wbg.2_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	513						centrosome|focal adhesion|nucleolus	protein binding			ovary(8)|breast(2)|central_nervous_system(2)|liver(1)	13										783				0.126582	18.894971	29.641153	10	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70488916	70488916	9396	1	G	C	C	C	425	33	LRRC7	3	3
LRRC7	57554	broad.mit.edu	37	1	70505055	70505055	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:70505055G>T	uc001dep.2	+	c.3434G>T	c.(3433-3435)AGA>ATA	p.R1145I	LRRC7_uc009wbg.2_Missense_Mutation_p.R429I|LRRC7_uc001deq.2_Missense_Mutation_p.R386I	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1145						centrosome|focal adhesion|nucleolus	protein binding			ovary(8)|breast(2)|central_nervous_system(2)|liver(1)	13										783				0.1	4.100909	23.299556	12	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70505055	70505055	9396	1	G	T	T	T	429	33	LRRC7	2	2
C1orf173	127254	broad.mit.edu	37	1	75037434	75037434	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:75037434C>A	uc001dgg.2	-	c.3960G>T	c.(3958-3960)ATG>ATT	p.M1320I		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	1320	Glu-rich.									ovary(3)|central_nervous_system(1)	4														0.219512	97.734957	112.625012	45	160	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75037434	75037434	2081	1	C	A	A	A	273	21	C1orf173	2	2
SLC44A5	204962	broad.mit.edu	37	1	75684224	75684224	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:75684224C>A	uc010oqz.1	-	c.1597G>T	c.(1597-1599)GAT>TAT	p.D533Y	SLC44A5_uc001dgt.2_Missense_Mutation_p.D494Y|SLC44A5_uc001dgs.2_Missense_Mutation_p.D452Y|SLC44A5_uc001dgr.2_Missense_Mutation_p.D452Y|SLC44A5_uc001dgu.2_Missense_Mutation_p.D494Y|SLC44A5_uc010ora.1_Missense_Mutation_p.D488Y|SLC44A5_uc010orb.1_Missense_Mutation_p.D364Y	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5 isoform B	494	Extracellular (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			ovary(2)	2														0.088889	4.349463	35.097734	16	164	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75684224	75684224	15136	1	C	A	A	A	377	29	SLC44A5	2	2
MSH4	4438	broad.mit.edu	37	1	76363740	76363740	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:76363740A>T	uc001dhd.1	+	c.2504A>T	c.(2503-2505)AAG>ATG	p.K835M		NM_002440	NP_002431	O15457	MSH4_HUMAN	mutS homolog 4	835					chiasma assembly|homologous chromosome segregation|meiotic mismatch repair|reciprocal meiotic recombination	mismatch repair complex|synaptonemal complex	ATP binding|damaged DNA binding|DNA-dependent ATPase activity|mismatched DNA binding			ovary(1)|lung(1)	2														0.102804	8.441461	25.264019	11	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76363740	76363740	10265	1	A	T	T	T	39	3	MSH4	3	3
ASB17	127247	broad.mit.edu	37	1	76397818	76397818	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:76397818T>A	uc001dhe.1	-	c.159A>T	c.(157-159)AAA>AAT	p.K53N	ASB17_uc001dhf.1_Non-coding_Transcript	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box-containing 17	53					intracellular signal transduction					ovary(1)	1														0.266667	95.830052	103.209384	40	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76397818	76397818	1039	1	T	A	A	A	829	64	ASB17	3	3
AK5	26289	broad.mit.edu	37	1	77752625	77752625	+	Splice_Site_SNP	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:77752625G>T	uc001dhn.2	+	c.61_splice	c.e2-1	p.S21_splice	AK5_uc001dho.2_Intron|AK5_uc001dhm.1_Splice_Site_SNP_p.S21_splice	NM_174858	NP_777283			adenylate kinase 5 isoform 1						ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			skin(1)	1														0.178571	27.767146	35.943202	15	69	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	77752625	77752625	446	1	G	T	T	T	429	33	AK5	5	2
IFI44	10561	broad.mit.edu	37	1	79120848	79120848	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:79120848C>G	uc001dip.3	+	c.644C>G	c.(643-645)ACG>AGG	p.T215R	IFI44_uc010orr.1_Missense_Mutation_p.T215R|IFI44_uc010ors.1_5'UTR	NM_006417	NP_006408	Q8TCB0	IFI44_HUMAN	interferon-induced, hepatitis C-associated	215					response to virus	cytoplasm				ovary(1)|central_nervous_system(1)	2														0.271739	80.854273	85.16326	25	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79120848	79120848	7818	1	C	G	G	G	247	19	IFI44	3	3
LPHN2	23266	broad.mit.edu	37	1	82409232	82409232	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:82409232C>A	uc001dit.3	+	c.977C>A	c.(976-978)TCA>TAA	p.S326*	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Nonsense_Mutation_p.S326*|LPHN2_uc001div.2_Nonsense_Mutation_p.S326*|LPHN2_uc009wcd.2_Nonsense_Mutation_p.S326*	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	326	Extracellular (Potential).|Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(2)|central_nervous_system(1)	3				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)										0.099237	5.367771	26.417564	13	118	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	82409232	82409232	9289	1	C	A	A	A	377	29	LPHN2	5	2
HFM1	164045	broad.mit.edu	37	1	91728125	91728125	+	Silent	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:91728125C>A	uc001doa.3	-	c.3999G>T	c.(3997-3999)TCG>TCT	p.S1333S	HFM1_uc009wdb.2_Non-coding_Transcript|HFM1_uc010osu.1_Silent_p.S1012S|HFM1_uc001dob.3_Silent_p.S521S	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	1333							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)										0.205479	37.489705	43.35757	15	58	KEEP	---	---	---	---	capture		Silent	SNP	91728125	91728125	7366	1	C	A	A	A	288	23	HFM1	1	1
HFM1	164045	broad.mit.edu	37	1	91781705	91781705	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:91781705T>C	uc001doa.3	-	c.2935A>G	c.(2935-2937)AAA>GAA	p.K979E	HFM1_uc009wdb.2_Non-coding_Transcript|HFM1_uc010osu.1_Missense_Mutation_p.K658E|HFM1_uc001dob.3_Missense_Mutation_p.K167E|HFM1_uc010osv.1_Missense_Mutation_p.K663E	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	979	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)										0.129032	15.956693	24.264153	8	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91781705	91781705	7366	1	T	C	C	C	832	64	HFM1	4	4
GFI1	2672	broad.mit.edu	37	1	92941703	92941703	+	Silent	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:92941703G>A	uc001dou.3	-	c.1152C>T	c.(1150-1152)ATC>ATT	p.I384I	GFI1_uc001dov.3_Silent_p.I384I|GFI1_uc001dow.3_Silent_p.I384I	NM_001127215	NP_001120687	Q99684	GFI1_HUMAN	growth factor independent 1	384	C2H2-type 5.				negative regulation of calcidiol 1-monooxygenase activity|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of vitamin D biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	promoter binding|protein binding|zinc ion binding			large_intestine(1)	1		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)										0.235294	8.189415	9.280814	4	13	KEEP	---	---	---	---	capture		Silent	SNP	92941703	92941703	6607	1	G	A	A	A	577	45	GFI1	2	2
LPPR5	163404	broad.mit.edu	37	1	99470110	99470110	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:99470110C>T	uc001dsb.2	-	c.118G>A	c.(118-120)GTG>ATG	p.V40M	LPPR5_uc001dsc.2_Missense_Mutation_p.V40M	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN	phosphatidic acid phosphatase type 2d isoform 1	40						integral to membrane	hydrolase activity				0														0.148936	10.693566	16.252417	7	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99470110	99470110	9301	1	C	T	T	T	247	19	LPPR5	1	1
SIRPG	55423	broad.mit.edu	37	20	1616967	1616967	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:1616967G>T	uc002wfm.1	-	c.615C>A	c.(613-615)TAC>TAA	p.Y205*	SIRPG_uc002wfn.1_Nonsense_Mutation_p.Y205*|SIRPG_uc002wfo.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma isoform 1	205	Extracellular (Potential).|Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|plasma membrane	protein binding			ovary(1)	1														0.329412	78.769535	80.963006	28	57	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	1616967	1616967	14831	20	G	T	T	T	620	48	SIRPG	5	2
CSRP2BP	57325	broad.mit.edu	37	20	18123564	18123564	+	Splice_Site_SNP	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:18123564G>T	uc002wqj.2	+	c.259_splice	c.e2+1	p.S87_splice	CSRP2BP_uc002wqk.2_5'Flank	NM_020536	NP_065397			CSRP2 binding protein						histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			ovary(2)	2														0.25	10.291994	11.201223	4	12	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	18123564	18123564	4109	20	G	T	T	T	468	36	CSRP2BP	5	2
GZF1	64412	broad.mit.edu	37	20	23350848	23350848	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:23350848G>C	uc010gdb.2	+	c.1906G>C	c.(1906-1908)GAT>CAT	p.D636H	GZF1_uc002wsy.2_Missense_Mutation_p.D636H|GZF1_uc010zsq.1_Missense_Mutation_p.D160H|GZF1_uc010zsr.1_Missense_Mutation_p.D145H|GZF1_uc002wsz.2_Missense_Mutation_p.D636H	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	636					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)													0.116279	15.48071	27.968579	10	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23350848	23350848	7194	20	G	C	C	C	533	41	GZF1	3	3
NINL	22981	broad.mit.edu	37	20	25481599	25481599	+	Silent	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:25481599C>G	uc002wux.1	-	c.909G>C	c.(907-909)GTG>GTC	p.V303V	NINL_uc010gdn.1_Silent_p.V303V|NINL_uc010gdo.1_Intron|NINL_uc010ztf.1_Silent_p.V319V	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	303				V -> L (in Ref. 5; BAH11644).	G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.413793	42.095447	42.283539	12	17	KEEP	---	---	---	---	capture		Silent	SNP	25481599	25481599	10821	20	C	G	G	G	210	17	NINL	3	3
TMC2	117532	broad.mit.edu	37	20	2592925	2592925	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:2592925G>T	uc002wgf.1	+	c.1682G>T	c.(1681-1683)CGA>CTA	p.R561L	TMC2_uc002wgg.1_Missense_Mutation_p.R545L|TMC2_uc010zpw.1_Missense_Mutation_p.R393L|TMC2_uc010zpx.1_Missense_Mutation_p.R392L	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	561	Cytoplasmic (Potential).					integral to membrane				ovary(3)	3														0.127907	27.232662	50.447019	22	150	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2592925	2592925	16515	20	G	T	T	T	481	37	TMC2	1	1
BPI	671	broad.mit.edu	37	20	36936026	36936026	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:36936026A>G	uc002xib.2	+	c.200A>G	c.(199-201)GAC>GGC	p.D67G		NM_001725	NP_001716	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	67					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			ovary(4)	4		Myeloproliferative disorder(115;0.00878)												0.093923	16.35259	46.330919	17	164	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36936026	36936026	1518	20	A	G	G	G	130	10	BPI	4	4
PTPRT	11122	broad.mit.edu	37	20	40747085	40747085	+	Silent	SNP	G	T	T	rs34284587	byFrequency	TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:40747085G>T	uc010ggj.2	-	c.2997C>A	c.(2995-2997)TCC>TCA	p.S999S	PTPRT_uc002xkg.2_Silent_p.S980S|PTPRT_uc010ggi.2_Silent_p.S183S	NM_133170	NP_573400	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	980	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			ovary(7)|lung(5)|skin(2)	14		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)								646				0.189189	31.412469	38.095323	14	60	KEEP	---	---	---	---	capture		Silent	SNP	40747085	40747085	13270	20	G	T	T	T	496	39	PTPRT	1	1
MMP9	4318	broad.mit.edu	37	20	44637694	44637694	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:44637694G>C	uc002xqz.2	+	c.129G>C	c.(127-129)CAG>CAC	p.Q43H		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	43					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)					462				0.225806	19.307618	21.44868	7	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44637694	44637694	10060	20	G	C	C	C	438	34	MMP9	3	3
SLC12A5	57468	broad.mit.edu	37	20	44664168	44664168	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:44664168G>T	uc010zxl.1	+	c.342G>T	c.(340-342)CCG>CCT	p.P114P	SLC12A5_uc002xra.2_Silent_p.P91P|SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Silent_p.P91P	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	114	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)									0.511628	129.800348	129.810555	44	42	KEEP	---	---	---	---	capture		Silent	SNP	44664168	44664168	14881	20	G	T	T	T	496	39	SLC12A5	1	1
ZNF831	128611	broad.mit.edu	37	20	57769383	57769383	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57769383G>T	uc002yan.2	+	c.3309G>T	c.(3307-3309)CTG>CTT	p.L1103L		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1103						intracellular	nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(29;0.0085)													0.154762	19.913449	29.490869	13	71	KEEP	---	---	---	---	capture		Silent	SNP	57769383	57769383	18784	20	G	T	T	T	600	47	ZNF831	2	2
CHGB	1114	broad.mit.edu	37	20	5903186	5903186	+	Silent	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:5903186G>A	uc002wmg.2	+	c.396G>A	c.(394-396)GAG>GAA	p.E132E	CHGB_uc010zqz.1_Intron	NM_001819	NP_001810	P05060	SCG1_HUMAN	chromogranin B precursor	132						extracellular space	hormone activity			breast(3)|ovary(1)	4														0.5	13.099837	13.099837	4	4	KEEP	---	---	---	---	capture		Silent	SNP	5903186	5903186	3473	20	G	A	A	A	438	34	CHGB	2	2
MYT1	4661	broad.mit.edu	37	20	62836921	62836921	+	Silent	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:62836921C>A	uc002yii.2	+	c.165C>A	c.(163-165)CCC>CCA	p.P55P	MYT1_uc002yih.2_Silent_p.P55P|MYT1_uc002yij.2_5'Flank	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	55					cell differentiation|nervous system development|regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GBM(59;481 1041 20555 21139 33705)				1819				0.257426	58.202058	63.594711	26	75	KEEP	---	---	---	---	capture		Silent	SNP	62836921	62836921	10501	20	C	A	A	A	275	22	MYT1	2	2
PAK7	57144	broad.mit.edu	37	20	9546647	9546647	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:9546647A>T	uc002wnl.2	-	c.1375T>A	c.(1375-1377)TCA>ACA	p.S459T	PAK7_uc002wnk.2_Missense_Mutation_p.S459T|PAK7_uc002wnj.2_Missense_Mutation_p.S459T|PAK7_uc010gby.1_Missense_Mutation_p.S459T	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	p21-activated kinase 7	459	Protein kinase.|ATP (By similarity).				protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity			lung(7)|skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	15			COAD - Colon adenocarcinoma(9;0.194)							177				0.321918	235.720321	243.96168	94	198	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9546647	9546647	11821	20	A	T	T	T	143	11	PAK7	3	3
GABPA	2551	broad.mit.edu	37	21	27141328	27141328	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:27141328G>T	uc002ylx.3	+	c.1150G>T	c.(1150-1152)GGG>TGG	p.G384W	GABPA_uc002yly.3_Missense_Mutation_p.G384W	NM_002040	NP_002031	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha	384	ETS.				positive regulation of gene-specific transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	promoter binding|protein heterodimerization activity|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription coactivator activity			ovary(1)|central_nervous_system(1)	2														0.138686	28.82318	46.119674	19	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27141328	27141328	6408	21	G	T	T	T	611	47	GABPA	2	2
SON	6651	broad.mit.edu	37	21	34923708	34923708	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:34923708A>G	uc002yse.1	+	c.2171A>G	c.(2170-2172)CAT>CGT	p.H724R	SON_uc002ysb.1_Missense_Mutation_p.H724R|SON_uc002ysc.2_Missense_Mutation_p.H724R|SON_uc002ysd.2_Intron|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	724					anti-apoptosis	nuclear speck	DNA binding|double-stranded RNA binding			ovary(3)	3														0.089888	8.368709	38.578653	16	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34923708	34923708	15426	21	A	G	G	G	104	8	SON	4	4
POFUT2	23275	broad.mit.edu	37	21	46703410	46703410	+	Missense_Mutation	SNP	C	A	A	rs73910608	byFrequency;by1000genomes	TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:46703410C>A	uc002zhc.2	-	c.415G>T	c.(415-417)GTC>TTC	p.V139F	POFUT2_uc002zhb.2_Non-coding_Transcript|POFUT2_uc002zhd.2_Missense_Mutation_p.V139F|POFUT2_uc011afp.1_Missense_Mutation_p.V139F	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2 isoform C	139					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity				0				Colorectal(79;0.243)										0.237226	178.748205	196.027072	65	209	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46703410	46703410	12612	21	C	A	A	A	247	19	POFUT2	1	1
CCT8L2	150160	broad.mit.edu	37	22	17073111	17073111	+	Silent	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:17073111C>T	uc002zlp.1	-	c.330G>A	c.(328-330)CTG>CTA	p.L110L		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	110					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)												0.2	20.033006	25.104982	12	48	KEEP	---	---	---	---	capture		Silent	SNP	17073111	17073111	3088	22	C	T	T	T	314	25	CCT8L2	2	2
SMTN	6525	broad.mit.edu	37	22	31484540	31484540	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:31484540G>T	uc011ale.1	+	c.404G>T	c.(403-405)CGG>CTG	p.R135L	SMTN_uc003ajk.1_Missense_Mutation_p.R81L|SMTN_uc003ajl.1_Missense_Mutation_p.R81L|SMTN_uc003ajm.1_Missense_Mutation_p.R81L|SMTN_uc011alf.1_Missense_Mutation_p.R137L|SMTN_uc003ajn.1_Missense_Mutation_p.R73L|SMTN_uc011alg.1_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	smoothelin isoform c	81	Potential.				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			large_intestine(2)|pancreas(1)	3														0.165746	48.624554	67.831405	30	151	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31484540	31484540	15314	22	G	T	T	T	507	39	SMTN	1	1
RBM9	23543	broad.mit.edu	37	22	36177704	36177704	+	Silent	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:36177704C>G	uc003aon.3	-	c.552G>C	c.(550-552)CTG>CTC	p.L184L	RBM9_uc003aog.3_Silent_p.L94L|RBM9_uc003aol.3_Silent_p.L113L|RBM9_uc003aoj.3_Silent_p.L113L|RBM9_uc003aok.3_Silent_p.L114L|RBM9_uc003aoh.3_Silent_p.L113L|RBM9_uc003aom.3_Silent_p.L113L|RBM9_uc010gwu.2_Silent_p.L93L|RBM9_uc003aoo.3_Silent_p.L183L|RBM9_uc003aop.3_Silent_p.L113L	NM_001082578	NP_001076047	O43251	RFOX2_HUMAN	RNA binding motif protein 9 isoform 5	123	RRM.				estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding				0														0.237942	220.881428	240.400573	74	237	KEEP	---	---	---	---	capture		Silent	SNP	36177704	36177704	13609	22	C	G	G	G	314	25	RBM9	3	3
MYH9	4627	broad.mit.edu	37	22	36691697	36691697	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:36691697G>T	uc003apg.2	-	c.3339C>A	c.(3337-3339)ATC>ATA	p.I1113I		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1113	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	10										1624				0.2	16.554676	20.31929	9	36	KEEP	---	---	---	---	capture		Silent	SNP	36691697	36691697	10437	22	G	T	T	T	421	33	MYH9	2	2
REV1	51455	broad.mit.edu	37	2	100052327	100052327	+	Silent	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:100052327T>A	uc002tad.2	-	c.1290A>T	c.(1288-1290)TCA>TCT	p.S430S	REV1_uc002tac.2_Silent_p.S430S	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	REV1-like isoform 1	430	UmuC.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			ovary(2)	2														0.24	44.511994	49.139991	18	57	KEEP	---	---	---	---	capture		Silent	SNP	100052327	100052327	13709	2	T	A	A	A	704	55	REV1	3	3
GPR45	11250	broad.mit.edu	37	2	105859086	105859086	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:105859086G>T	uc002tco.1	+	c.771G>T	c.(769-771)GTG>GTT	p.V257V		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	257	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)	2														0.126697	33.397801	63.407185	28	193	KEEP	---	---	---	---	capture		Silent	SNP	105859086	105859086	6971	2	G	T	T	T	600	47	GPR45	2	2
IL1F9	56300	broad.mit.edu	37	2	113742535	113742535	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:113742535T>A	uc002tio.1	+	c.419T>A	c.(418-420)ATT>AAT	p.I140N	IL1F9_uc010fkr.1_Missense_Mutation_p.I105N	NM_019618	NP_062564	Q9NZH8	IL1F9_HUMAN	interleukin 1 family, member 9	140					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			ovary(1)|central_nervous_system(1)	2						Esophageal Squamous(44;715 981 6239 42838 46707)								0.423729	143.325636	143.925362	50	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113742535	113742535	7958	2	T	A	A	A	676	52	IL1F9	3	3
DDX18	8886	broad.mit.edu	37	2	118577319	118577319	+	Silent	SNP	T	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:118577319T>C	uc002tlh.1	+	c.465T>C	c.(463-465)GAT>GAC	p.D155D		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	155							ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|ovary(1)|lung(1)	4												OREG0003814	type=REGULATORY REGION|Gene=DDX18|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0.119403	12.757101	22.277963	8	59	KEEP	---	---	---	---	capture		Silent	SNP	118577319	118577319	4516	2	T	C	C	C	634	49	DDX18	4	4
PTPN4	5775	broad.mit.edu	37	2	120723086	120723086	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:120723086G>A	uc002tmf.1	+	c.2423G>A	c.(2422-2424)CGT>CAT	p.R808H	PTPN4_uc010flj.1_Missense_Mutation_p.R521H|PTPN4_uc010yyr.1_Missense_Mutation_p.R441H	NM_002830	NP_002821	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type	808	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			ovary(2)	2					Alendronate(DB00630)									0.098901	5.508547	20.148884	9	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120723086	120723086	13247	2	G	A	A	A	520	40	PTPN4	1	1
MYO7B	4648	broad.mit.edu	37	2	128338352	128338352	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:128338352C>A	uc002top.2	+	c.1035C>A	c.(1033-1035)GAC>GAA	p.D345E		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	345	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)										0.4	32.345113	32.56377	10	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128338352	128338352	10478	2	C	A	A	A	246	19	MYO7B	1	1
WDR33	55339	broad.mit.edu	37	2	128477639	128477639	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:128477639C>G	uc002tpg.1	-	c.1960G>C	c.(1960-1962)GGA>CGA	p.G654R		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	654	Collagen-like.				postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)										0.227848	45.903032	51.278154	18	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128477639	128477639	17860	2	C	G	G	G	286	22	WDR33	3	3
LRP1B	53353	broad.mit.edu	37	2	141113955	141113955	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141113955C>A	uc002tvj.1	-	c.11486G>T	c.(11485-11487)TGT>TTT	p.C3829F		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3829	Extracellular (Potential).|EGF-like 8.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.398437	159.797895	160.953338	51	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141113955	141113955	9328	2	C	A	A	A	221	17	LRP1B	2	2
LRP1B	53353	broad.mit.edu	37	2	141680576	141680576	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141680576G>T	uc002tvj.1	-	c.3277C>A	c.(3277-3279)CGA>AGA	p.R1093R	LRP1B_uc010fnl.1_Silent_p.R275R	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1093	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.290456	206.06317	215.537791	70	171	KEEP	---	---	---	---	capture		Silent	SNP	141680576	141680576	9328	2	G	T	T	T	519	40	LRP1B	1	1
LRP1B	53353	broad.mit.edu	37	2	141777508	141777508	+	Silent	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141777508C>A	uc002tvj.1	-	c.1953G>T	c.(1951-1953)GTG>GTT	p.V651V	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	651	Extracellular (Potential).|LDL-receptor class B 6.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.327869	108.453074	111.661228	40	82	KEEP	---	---	---	---	capture		Silent	SNP	141777508	141777508	9328	2	C	A	A	A	262	21	LRP1B	2	2
ZEB2	9839	broad.mit.edu	37	2	145156310	145156311	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:145156310_145156311GG>TT	uc002tvu.2	-	c.2443_2444CC>AA	c.(2443-2445)CCT>AAT	p.P815N	ZEB2_uc002tvv.2_Missense_Mutation_p.P809N|ZEB2_uc010zbm.1_Missense_Mutation_p.P786N|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.P844N	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	815					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|large_intestine(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.112)		Melanoma(33;1235 1264 5755 16332)								0.337278	159.761222	163.700877	57	112	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	145156310	145156311	18212	2	GG	TT	TT	TT	455	35	ZEB2	2	2
RIF1	55183	broad.mit.edu	37	2	152322272	152322272	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:152322272A>T	uc002txm.2	+	c.6238A>T	c.(6238-6240)ATT>TTT	p.I2080F	RIF1_uc002txl.2_Missense_Mutation_p.I2080F|RIF1_uc002txn.2_Missense_Mutation_p.I2080F|RIF1_uc002txo.2_Missense_Mutation_p.I2080F|RIF1_uc002txp.2_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	2080	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|lung(2)|kidney(1)	12				BRCA - Breast invasive adenocarcinoma(221;0.0429)						950				0.12	12.122613	22.747006	9	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152322272	152322272	13834	2	A	T	T	T	104	8	RIF1	3	3
NEB	4703	broad.mit.edu	37	2	152410462	152410462	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:152410462G>T	uc010fnx.2	-	c.14403C>A	c.(14401-14403)GCC>GCA	p.A4801A	NEB_uc002txr.2_Silent_p.A1224A	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	4801	Nebulin 131.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(1)|skin(1)|pancreas(1)	19				BRCA - Breast invasive adenocarcinoma(221;0.219)										0.276316	162.321834	172.594508	63	165	KEEP	---	---	---	---	capture		Silent	SNP	152410462	152410462	10701	2	G	T	T	T	600	47	NEB	2	2
FAP	2191	broad.mit.edu	37	2	163070536	163070536	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:163070536C>A	uc002ucd.2	-	c.914G>T	c.(913-915)TGT>TTT	p.C305F	FAP_uc010zct.1_Missense_Mutation_p.C280F|FAP_uc010fpd.2_Intron|FAP_uc010fpe.1_Missense_Mutation_p.C272F	NM_004460	NP_004451	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha subunit	305	Extracellular (Potential).				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			ovary(3)	3														0.247525	126.145852	137.866159	50	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	163070536	163070536	5909	2	C	A	A	A	221	17	FAP	2	2
SCN2A	6326	broad.mit.edu	37	2	166210846	166210846	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:166210846C>A	uc002udc.2	+	c.3064C>A	c.(3064-3066)CGT>AGT	p.R1022S	SCN2A_uc002udd.2_Missense_Mutation_p.R1022S|SCN2A_uc002ude.2_Missense_Mutation_p.R1022S	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1022					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)									0.130909	59.416843	95.836494	36	239	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166210846	166210846	14398	2	C	A	A	A	247	19	SCN2A	1	1
SCN1A	6323	broad.mit.edu	37	2	166903468	166903468	+	Nonsense_Mutation	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:166903468T>A	uc010zcz.1	-	c.1189A>T	c.(1189-1191)AAA>TAA	p.K397*	SCN1A_uc002udo.3_Nonsense_Mutation_p.K266*|SCN1A_uc010fpk.2_Nonsense_Mutation_p.K266*	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	397	I.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|large_intestine(1)	7					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)									0.18	44.129754	58.588833	27	123	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	166903468	166903468	14396	2	T	A	A	A	806	62	SCN1A	5	3
XIRP2	129446	broad.mit.edu	37	2	168106557	168106557	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168106557A>T	uc002udx.2	+	c.8655A>T	c.(8653-8655)AAA>AAT	p.K2885N	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.K2710N|XIRP2_uc010fpq.2_Missense_Mutation_p.K2663N|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.K231N	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2710					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.207143	66.113152	77.229424	29	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168106557	168106557	18011	2	A	T	T	T	50	4	XIRP2	3	3
ABCB11	8647	broad.mit.edu	37	2	169791861	169791861	+	Silent	SNP	A	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:169791861A>C	uc002ueo.1	-	c.2889T>G	c.(2887-2889)CTT>CTG	p.L963L	ABCB11_uc010zda.1_Silent_p.L405L|ABCB11_uc010zdb.1_Silent_p.L439L	NM_003742	NP_003733	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	963	Cytoplasmic (Potential).|ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			ovary(2)|large_intestine(2)|breast(1)	5					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)									0.095	17.528197	50.417892	19	181	KEEP	---	---	---	---	capture		Silent	SNP	169791861	169791861	43	2	A	C	C	C	54	5	ABCB11	4	4
KLHL23	151230	broad.mit.edu	37	2	170592412	170592412	+	Silent	SNP	A	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:170592412A>T	uc002ufh.1	+	c.888A>T	c.(886-888)ACA>ACT	p.T296T	KLHL23_uc002ufi.1_Silent_p.T296T	NM_144711	NP_653312	Q8NBE8	KLH23_HUMAN	kelch-like 23	296	Kelch 1.										0														0.333333	335.605395	344.388138	119	238	KEEP	---	---	---	---	capture		Silent	SNP	170592412	170592412	8690	2	A	T	T	T	54	5	KLHL23	3	3
AGPS	8540	broad.mit.edu	37	2	178326701	178326701	+	Silent	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:178326701C>T	uc002ull.2	+	c.951C>T	c.(949-951)CGC>CGT	p.R317R	AGPS_uc010zfb.1_Silent_p.R227R	NM_003659	NP_003650	O00116	ADAS_HUMAN	alkyldihydroxyacetone phosphate synthase	317	FAD-binding PCMH-type.				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			ovary(2)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)											0.094017	4.74368	24.118254	11	106	KEEP	---	---	---	---	capture		Silent	SNP	178326701	178326701	397	2	C	T	T	T	340	27	AGPS	1	1
RBM45	129831	broad.mit.edu	37	2	178981037	178981037	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:178981037G>A	uc002ulv.2	+	c.349G>A	c.(349-351)GAT>AAT	p.D117N		NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	117					cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)											0.081633	3.793229	47.470247	20	225	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178981037	178981037	13601	2	G	A	A	A	429	33	RBM45	2	2
TTN	7273	broad.mit.edu	37	2	179489195	179489195	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179489195C>A	uc010zfg.1	-	c.37108G>T	c.(37108-37110)GTG>TTG	p.V12370L	TTN_uc010zfh.1_Missense_Mutation_p.V6065L|TTN_uc010zfi.1_Missense_Mutation_p.V5998L|TTN_uc010zfj.1_Missense_Mutation_p.V5873L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2704										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)							8722				0.101562	12.775518	33.049144	13	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179489195	179489195	17290	2	C	A	A	A	247	19	TTN	1	1
ITGA4	3676	broad.mit.edu	37	2	182347350	182347350	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:182347350G>T	uc002unu.2	+	c.1013G>T	c.(1012-1014)AGA>ATA	p.R338I	ITGA4_uc010zfl.1_Missense_Mutation_p.R338I	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	338	FG-GAP 5.|Extracellular (Potential).				B cell differentiation|blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)									0.158654	48.221095	71.349889	33	175	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	182347350	182347350	8182	2	G	T	T	T	429	33	ITGA4	2	2
COL3A1	1281	broad.mit.edu	37	2	189870139	189870139	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:189870139G>T	uc002uqj.1	+	c.2995G>T	c.(2995-2997)GGT>TGT	p.G999C		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	999	Triple-helical region.		G -> R (in EDS4).		axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)					1079				0.10929	16.682799	44.33826	20	163	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189870139	189870139	3826	2	G	T	T	T	559	43	COL3A1	2	2
MFSD6	54842	broad.mit.edu	37	2	191353516	191353516	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:191353516G>A	uc002urz.2	+	c.1764G>A	c.(1762-1764)ATG>ATA	p.M588I	MFSD6_uc010zge.1_Missense_Mutation_p.M50I	NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing	588	Helical; (Potential).				transmembrane transport	integral to membrane				ovary(2)	2														0.439759	213.043189	213.569682	73	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	191353516	191353516	9925	2	G	A	A	A	585	45	MFSD6	2	2
SATB2	23314	broad.mit.edu	37	2	200245120	200245120	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:200245120C>A	uc002uuy.1	-	c.564G>T	c.(562-564)CAG>CAT	p.Q188H	SATB2_uc010fsq.1_Intron|SATB2_uc002uuz.1_Missense_Mutation_p.Q188H|SATB2_uc002uva.1_Missense_Mutation_p.Q188H	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	188						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						Colon(30;262 767 11040 24421 36230)								0.105769	14.278955	46.423922	22	186	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	200245120	200245120	14335	2	C	A	A	A	415	32	SATB2	2	2
SDC1	6382	broad.mit.edu	37	2	20402564	20402564	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:20402564T>A	uc002rdo.1	-	c.896A>T	c.(895-897)TAC>TTC	p.Y299F	SDC1_uc002rdp.1_Missense_Mutation_p.Y299F|SDC1_uc010exv.2_Intron	NM_002997	NP_002988	P18827	SDC1_HUMAN	syndecan 1 precursor	299	Cytoplasmic (Potential).				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)										0.419355	177.173661	178.043151	65	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20402564	20402564	14436	2	T	A	A	A	741	57	SDC1	3	3
PLEKHM3	389072	broad.mit.edu	37	2	208795744	208795744	+	Silent	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:208795744G>A	uc002vcl.2	-	c.1792C>T	c.(1792-1794)CTG>TTG	p.L598L	PLEKHM3_uc002vcm.2_Silent_p.L598L	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M,	598					intracellular signal transduction		metal ion binding			ovary(1)	1														0.327434	99.430807	102.417981	37	76	KEEP	---	---	---	---	capture		Silent	SNP	208795744	208795744	12508	2	G	A	A	A	438	34	PLEKHM3	2	2
PTH2R	5746	broad.mit.edu	37	2	209345847	209345847	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:209345847G>T	uc010zjb.1	+	c.1067G>T	c.(1066-1068)TGG>TTG	p.W356L	PTH2R_uc002vdb.2_Missense_Mutation_p.W345L	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	345	Cytoplasmic (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)	1				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)										0.166667	31.204154	41.956027	17	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	209345847	209345847	13215	2	G	T	T	T	611	47	PTH2R	2	2
CPS1	1373	broad.mit.edu	37	2	211476856	211476856	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:211476856C>A	uc010fur.2	+	c.2425C>A	c.(2425-2427)CGT>AGT	p.R809S	CPS1_uc002vee.3_Missense_Mutation_p.R803S|CPS1_uc010fus.2_Missense_Mutation_p.R352S	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform a	803					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)	12				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)										0.125954	42.181218	77.980822	33	229	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	211476856	211476856	3961	2	C	A	A	A	403	31	CPS1	1	1
TNS1	7145	broad.mit.edu	37	2	218713154	218713154	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:218713154G>A	uc002vgt.2	-	c.1711C>T	c.(1711-1713)CAT>TAT	p.H571Y	TNS1_uc002vgr.2_Missense_Mutation_p.H571Y|TNS1_uc002vgs.2_Missense_Mutation_p.H571Y|TNS1_uc010zjv.1_Missense_Mutation_p.H571Y|TNS1_uc010fvj.1_Missense_Mutation_p.H639Y|TNS1_uc010fvk.1_Missense_Mutation_p.H696Y|TNS1_uc010fvi.1_Missense_Mutation_p.H258Y	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	571						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)										0.365079	64.008311	65.016763	23	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	218713154	218713154	16884	2	G	A	A	A	611	47	TNS1	2	2
RHBDD1	84236	broad.mit.edu	37	2	227779021	227779021	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:227779021A>T	uc002voi.2	+	c.810A>T	c.(808-810)GAA>GAT	p.E270D	RHBDD1_uc010fxc.2_Missense_Mutation_p.E270D|RHBDD1_uc002voj.2_Missense_Mutation_p.E101D	NM_032276	NP_115652	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	270						integral to membrane	serine-type endopeptidase activity			ovary(1)	1		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)										0.461538	52.745755	52.795981	18	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	227779021	227779021	13791	2	A	T	T	T	37	3	RHBDD1	3	3
UGT1A4	54657	broad.mit.edu	37	2	234627526	234627526	+	Silent	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:234627526C>T	uc002vux.2	+	c.60C>T	c.(58-60)CTC>CTT	p.L20L	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Silent_p.L20L	NM_007120	NP_009051	P22310	UD14_HUMAN	UDP glycosyltransferase 1 family, polypeptide A4	20					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity				0		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Imipramine(DB00458)|Lamotrigine(DB00555)|Paricalcitol(DB00910)|Trifluoperazine(DB00831)	Melanoma(99;1011 1962 13201 26492)						OREG0003834	type=REGULATORY REGION|Gene=UGT1A4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0.170213	12.762896	17.612195	8	39	KEEP	---	---	---	---	capture		Silent	SNP	234627526	234627526	17505	2	C	T	T	T	366	29	UGT1A4	2	2
ATG4B	23192	broad.mit.edu	37	2	242607954	242607955	+	Splice_Site_DNP	DNP	GG	CT	CT			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:242607954_242607955GG>CT	uc010fzp.2	+	c.812_splice	c.e10-1	p.G271_splice	ATG4B_uc002wbu.2_Splice_Site_DNP_p.G197_splice|ATG4B_uc002wbv.2_Splice_Site_DNP_p.G271_splice|ATG4B_uc002wbw.2_Splice_Site_DNP_p.G271_splice|ATG4B_uc010zox.1_Splice_Site_DNP_p.G257_splice|ATG4B_uc010zoy.1_Splice_Site_DNP_p.G197_splice|ATG4B_uc010zoz.1_Splice_Site_DNP_p.G197_splice|ATG4B_uc002wby.2_Missense_Mutation_p.G24L	NM_178326	NP_847896			APG4 autophagy 4 homolog B isoform b						autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		Melanoma(78;458 1323 6342 12171 39523)								0.5625	28.371686	28.425592	9	7	KEEP	---	---	---	---	capture		Splice_Site_DNP	DNP	242607954	242607955	1116	2	GG	CT	CT	CT	455	35	ATG4B	5	3
ITSN2	50618	broad.mit.edu	37	2	24533500	24533500	+	Silent	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:24533500T>A	uc002rfe.2	-	c.414A>T	c.(412-414)ACA>ACT	p.T138T	ITSN2_uc002rff.2_Silent_p.T138T|ITSN2_uc002rfg.2_Silent_p.T138T|ITSN2_uc010eyd.2_Silent_p.T138T	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	138					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.121622	12.824194	23.202066	9	65	KEEP	---	---	---	---	capture		Silent	SNP	24533500	24533500	8231	2	T	A	A	A	652	51	ITSN2	3	3
HADHB	3032	broad.mit.edu	37	2	26502085	26502085	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:26502085G>C	uc002rgz.2	+	c.713G>C	c.(712-714)CGG>CCG	p.R238P	HADHB_uc010ykv.1_Missense_Mutation_p.R216P|HADHB_uc010ykw.1_Missense_Mutation_p.R223P|HADHB_uc002rha.2_Intron|HADHB_uc010ykx.1_Missense_Mutation_p.R164P	NM_000183	NP_000174	P55084	ECHB_HUMAN	mitochondrial trifunctional protein, beta	238					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.182692	41.663148	51.495167	19	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26502085	26502085	7226	2	G	C	C	C	507	39	HADHB	3	3
EHD3	30845	broad.mit.edu	37	2	31472333	31472333	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:31472333G>T	uc002rnu.2	+	c.501G>T	c.(499-501)CGG>CGT	p.R167R	EHD3_uc010ymt.1_Silent_p.R167R	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	167					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding				0	Acute lymphoblastic leukemia(172;0.155)													0.416667	55.188403	55.479877	20	28	KEEP	---	---	---	---	capture		Silent	SNP	31472333	31472333	5168	2	G	T	T	T	548	43	EHD3	2	2
BIRC6	57448	broad.mit.edu	37	2	32639837	32639837	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:32639837G>T	uc010ezu.2	+	c.1478G>T	c.(1477-1479)GGG>GTG	p.G493V		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	493					anti-apoptosis|apoptosis|post-translational protein modification	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					Pancreas(94;175 1509 16028 18060 45422)				1555				0.172414	8.154256	11.097804	5	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32639837	32639837	1463	2	G	T	T	T	559	43	BIRC6	2	2
TSSC1	7260	broad.mit.edu	37	2	3341899	3341899	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:3341899C>A	uc002qxj.2	-	c.148G>T	c.(148-150)GAT>TAT	p.D50Y		NM_003310	NP_003301	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	50							protein binding				0	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		Colon(140;1261 1762 4183 34270 49743)								0.375	75.899254	76.889448	27	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3341899	3341899	17219	2	C	A	A	A	403	31	TSSC1	1	1
CEBPZ	10153	broad.mit.edu	37	2	37428995	37428995	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:37428995C>G	uc002rpz.2	-	c.3077G>C	c.(3076-3078)AGA>ACA	p.R1026T		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	1026					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)												0.103704	20.196266	41.259821	14	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37428995	37428995	3337	2	C	G	G	G	416	32	CEBPZ	3	3
CEBPZ	10153	broad.mit.edu	37	2	37429980	37429980	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:37429980C>G	uc002rpz.2	-	c.2972G>C	c.(2971-2973)GGA>GCA	p.G991A		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	991					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)												0.140625	20.429507	28.407485	9	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37429980	37429980	3337	2	C	G	G	G	390	30	CEBPZ	3	3
THUMPD2	80745	broad.mit.edu	37	2	39993217	39993217	+	Silent	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:39993217C>A	uc002rru.2	-	c.783G>T	c.(781-783)GTG>GTT	p.V261V	THUMPD2_uc002rrv.2_Non-coding_Transcript|THUMPD2_uc010ynt.1_Silent_p.V152V|THUMPD2_uc010ynu.1_3'UTR	NM_025264	NP_079540	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	231	THUMP.						methyltransferase activity				0		all_hematologic(82;0.248)												0.425373	166.545521	167.198177	57	77	KEEP	---	---	---	---	capture		Silent	SNP	39993217	39993217	16411	2	C	A	A	A	262	21	THUMPD2	2	2
SLC8A1	6546	broad.mit.edu	37	2	40655643	40655643	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:40655643C>G	uc002rrx.2	-	c.1778G>C	c.(1777-1779)GGA>GCA	p.G593A	SLC8A1_uc002rry.2_Missense_Mutation_p.G593A|SLC8A1_uc002rrz.2_Missense_Mutation_p.G593A|SLC8A1_uc002rsa.2_Missense_Mutation_p.G593A|SLC8A1_uc002rsd.3_Missense_Mutation_p.G593A|SLC8A1_uc002rsb.1_Missense_Mutation_p.G593A|SLC8A1_uc010fan.1_Missense_Mutation_p.G593A|SLC8A1_uc002rsc.1_Missense_Mutation_p.G593A	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	593	Calx-beta 2.|Cytoplasmic (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)	3					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)									0.366667	79.635898	80.573217	22	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40655643	40655643	15203	2	C	G	G	G	390	30	SLC8A1	3	3
PLEKHH2	130271	broad.mit.edu	37	2	43926908	43926908	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:43926908A>T	uc010yny.1	+	c.811A>T	c.(811-813)ACA>TCA	p.T271S	PLEKHH2_uc002rte.3_Missense_Mutation_p.T271S|PLEKHH2_uc002rtf.3_Missense_Mutation_p.T270S	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	271						cytoplasm|cytoskeleton|integral to membrane	binding			central_nervous_system(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)												0.107843	12.453708	28.00399	11	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43926908	43926908	12503	2	A	T	T	T	78	6	PLEKHH2	3	3
NRXN1	9378	broad.mit.edu	37	2	50733708	50733708	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:50733708C>G	uc010fbq.2	-	c.2542G>C	c.(2542-2544)GAG>CAG	p.E848Q	NRXN1_uc002rxb.3_Missense_Mutation_p.E480Q|NRXN1_uc002rxe.3_Missense_Mutation_p.E808Q|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	176	Extracellular (Potential).|Laminin G-like.				neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)											0.416667	32.744986	32.890682	10	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50733708	50733708	11070	2	C	G	G	G	403	31	NRXN1	3	3
SPTBN1	6711	broad.mit.edu	37	2	54852019	54852019	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:54852019G>T	uc002rxu.2	+	c.1261G>T	c.(1261-1263)GAA>TAA	p.E421*	SPTBN1_uc002rxv.1_Nonsense_Mutation_p.E421*|SPTBN1_uc002rxx.2_Nonsense_Mutation_p.E408*	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	421	Spectrin 2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(2)|breast(2)|central_nervous_system(2)	6			Lung(47;0.24)											0.4	81.730244	82.387274	30	45	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	54852019	54852019	15633	2	G	T	T	T	533	41	SPTBN1	5	2
SPTBN1	6711	broad.mit.edu	37	2	54852032	54852032	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:54852032G>T	uc002rxu.2	+	c.1274G>T	c.(1273-1275)CGC>CTC	p.R425L	SPTBN1_uc002rxv.1_Missense_Mutation_p.R425L|SPTBN1_uc002rxx.2_Missense_Mutation_p.R412L	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	425	Spectrin 2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(2)|breast(2)|central_nervous_system(2)	6			Lung(47;0.24)											0.440476	114.267444	114.525966	37	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54852032	54852032	15633	2	G	T	T	T	494	38	SPTBN1	1	1
SERTAD2	9792	broad.mit.edu	37	2	64863326	64863326	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:64863326C>G	uc002sde.1	-	c.680G>C	c.(679-681)GGG>GCG	p.G227A		NM_014755	NP_055570	Q14140	SRTD2_HUMAN	SERTA domain containing 2	227					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus					0														0.137405	28.951409	45.628544	18	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64863326	64863326	14609	2	C	G	G	G	286	22	SERTAD2	3	3
HK2	3099	broad.mit.edu	37	2	75118049	75118049	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:75118049G>T	uc002snd.2	+	c.2735G>T	c.(2734-2736)CGT>CTT	p.R912L		NM_000189	NP_000180	P52789	HXK2_HUMAN	hexokinase 2	912	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			ovary(1)|lung(1)	2														0.537037	95.478516	95.543144	29	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75118049	75118049	7482	2	G	T	T	T	520	40	HK2	1	1
DNAH6	1768	broad.mit.edu	37	2	84800703	84800703	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:84800703A>T	uc010fgb.2	+	c.1916A>T	c.(1915-1917)CAG>CTG	p.Q639L	DNAH6_uc002soo.2_Missense_Mutation_p.Q218L|DNAH6_uc002sop.2_Missense_Mutation_p.Q218L	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy polypeptide 6	639	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			central_nervous_system(1)	1														0.109589	17.490779	39.523983	16	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84800703	84800703	4788	2	A	T	T	T	91	7	DNAH6	3	3
COX5B	1329	broad.mit.edu	37	2	98263846	98263846	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:98263846A>T	uc002sya.2	+	c.217A>T	c.(217-219)ACC>TCC	p.T73S		NM_001862	NP_001853	P10606	COX5B_HUMAN	cytochrome c oxidase subunit Vb precursor	73					respiratory electron transport chain|respiratory gaseous exchange	mitochondrial inner membrane	cytochrome-c oxidase activity|metal ion binding				0														0.101626	18.801411	57.742809	25	221	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98263846	98263846	3911	2	A	T	T	T	78	6	COX5B	3	3
EIF5B	9669	broad.mit.edu	37	2	99980853	99980853	+	Silent	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:99980853C>A	uc002tab.2	+	c.1257C>A	c.(1255-1257)GCC>GCA	p.A419A		NM_015904	NP_056988	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	419					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(1)|pancreas(1)	2						Colon(162;2388 2567 2705 3444)								0.090909	2.955422	32.689768	16	160	KEEP	---	---	---	---	capture		Silent	SNP	99980853	99980853	5235	2	C	A	A	A	288	23	EIF5B	1	1
ATP2B2	491	broad.mit.edu	37	3	10417183	10417183	+	Silent	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:10417183C>A	uc003bvt.2	-	c.1347G>T	c.(1345-1347)ACG>ACT	p.T449T	ATP2B2_uc003bvv.2_Silent_p.T404T|ATP2B2_uc003bvw.2_Silent_p.T404T|ATP2B2_uc010hdo.2_Silent_p.T154T	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	449	Helical; (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|central_nervous_system(1)	4						Ovarian(125;1619 1709 15675 19819 38835)								0.205607	47.588898	56.1933	22	85	KEEP	---	---	---	---	capture		Silent	SNP	10417183	10417183	1159	3	C	A	A	A	288	23	ATP2B2	1	1
RETNLB	84666	broad.mit.edu	37	3	108474748	108474748	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:108474748C>A	uc003dxh.2	-	c.213G>T	c.(211-213)ATG>ATT	p.M71I		NM_032579	NP_115968	Q9BQ08	RETNB_HUMAN	resistin like beta precursor	71					cell proliferation	extracellular region	hormone activity				0														0.168831	23.224621	31.223939	13	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108474748	108474748	13707	3	C	A	A	A	273	21	RETNLB	2	2
GSK3B	2932	broad.mit.edu	37	3	119720926	119720926	+	Silent	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:119720926G>A	uc003edn.2	-	c.249C>T	c.(247-249)GCC>GCT	p.A83A	GSK3B_uc003edo.2_Silent_p.A83A	NM_002093	NP_002084	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta isoform 1	83	Protein kinase.				axon guidance|canonical Wnt receptor signaling pathway|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein catabolic process|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cytosol|nucleus	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			lung(2)	2				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)					159				0.226766	129.112948	147.570227	61	208	KEEP	---	---	---	---	capture		Silent	SNP	119720926	119720926	7104	3	G	A	A	A	600	47	GSK3B	2	2
PARP9	83666	broad.mit.edu	37	3	122264292	122264292	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:122264292C>G	uc010hri.2	-	c.1476G>C	c.(1474-1476)TTG>TTC	p.L492F	PARP9_uc003eff.3_Missense_Mutation_p.L457F|PARP9_uc011bjs.1_Missense_Mutation_p.L457F|PARP9_uc003efg.2_Missense_Mutation_p.L37F|PARP9_uc003efi.2_Missense_Mutation_p.L457F|PARP9_uc003efh.2_Missense_Mutation_p.L492F|PARP9_uc003efj.2_Missense_Mutation_p.L457F	NM_001146102	NP_001139574	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	492					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(114;0.0519)						175				0.1	20.582327	46.149021	16	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122264292	122264292	11883	3	C	G	G	G	376	29	PARP9	3	3
CCDC14	64770	broad.mit.edu	37	3	123633788	123633788	+	Silent	SNP	A	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:123633788A>G	uc011bjx.1	-	c.2700T>C	c.(2698-2700)GAT>GAC	p.D900D	CCDC14_uc003egv.3_Silent_p.D541D|CCDC14_uc003egx.3_Silent_p.D700D|CCDC14_uc010hrt.2_Silent_p.D859D|CCDC14_uc003egy.3_Silent_p.D700D|CCDC14_uc003egz.2_3'UTR	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	900											0		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)										0.121951	6.347841	12.085638	5	36	KEEP	---	---	---	---	capture		Silent	SNP	123633788	123633788	2893	3	A	G	G	G	102	8	CCDC14	4	4
RAB43	339122	broad.mit.edu	37	3	128849008	128849008	+	Silent	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:128849008C>T	uc003elo.1	-	c.774G>A	c.(772-774)AGG>AGA	p.R258R	ISY1_uc010hsz.1_Silent_p.R78R|ISY1_uc003elp.1_Silent_p.R258R|ISY1_uc010hta.1_Silent_p.R280R	NM_020701	NP_065752	Q86YS6	RAB43_HUMAN	ISY1 splicing factor homolog	Error:Variant_position_missing_in_Q86YS6_after_alignment					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			lung(1)	1														0.111111	13.233529	33.424556	15	120	KEEP	---	---	---	---	capture		Silent	SNP	128849008	128849008	13404	3	C	T	T	T	389	30	RAB43	2	2
CPNE4	131034	broad.mit.edu	37	3	131418774	131418774	+	Silent	SNP	T	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:131418774T>G	uc011blq.1	-	c.465A>C	c.(463-465)ACA>ACC	p.T155T	CPNE4_uc003eok.2_Silent_p.T137T|CPNE4_uc003eol.2_Silent_p.T155T|CPNE4_uc003eom.2_Silent_p.T137T	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	copine IV	137										central_nervous_system(1)	1														0.385714	85.709911	86.510929	27	43	KEEP	---	---	---	---	capture		Silent	SNP	131418774	131418774	3952	3	T	G	G	G	704	55	CPNE4	4	4
TOPBP1	11073	broad.mit.edu	37	3	133368720	133368720	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:133368720C>A	uc003eps.2	-	c.1157G>T	c.(1156-1158)GGA>GTA	p.G386V		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	386	BRCT 3.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						Ovarian(21;193 658 4424 15423 17362)				428				0.16	5.781752	8.536866	4	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133368720	133368720	16911	3	C	A	A	A	390	30	TOPBP1	2	2
PRR23B	389151	broad.mit.edu	37	3	138738769	138738769	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:138738769G>T	uc003esy.1	-	c.735C>A	c.(733-735)CAC>CAA	p.H245Q		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	proline rich 23B	245	Pro-rich.									breast(1)	1														0.166667	16.646461	22.339345	9	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138738769	138738769	13043	3	G	T	T	T	516	40	PRR23B	1	1
RBP2	5948	broad.mit.edu	37	3	139181102	139181102	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:139181102A>T	uc003eth.2	-	c.104T>A	c.(103-105)GTA>GAA	p.V35E		NM_004164	NP_004155	P50120	RET2_HUMAN	retinol binding protein 2, cellular	35					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity				0					Vitamin A(DB00162)									0.188406	82.013686	100.816456	39	168	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139181102	139181102	13625	3	A	T	T	T	182	14	RBP2	3	3
ATR	545	broad.mit.edu	37	3	142253921	142253921	+	Splice_Site_SNP	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:142253921C>A	uc003eux.3	-	c.3945_splice	c.e21+1	p.Q1315_splice		NM_001184	NP_001175			ataxia telangiectasia and Rad3 related protein						cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|breast(4)|ovary(3)|skin(2)|stomach(1)|central_nervous_system(1)|liver(1)	17										936				0.319149	46.011552	47.375916	15	32	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	142253921	142253921	1223	3	C	A	A	A	234	18	ATR	5	2
CNTN6	27255	broad.mit.edu	37	3	1445042	1445042	+	Silent	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:1445042C>A	uc003boz.2	+	c.3027C>A	c.(3025-3027)ACC>ACA	p.T1009T	CNTN6_uc011asj.1_Silent_p.T937T|CNTN6_uc003bpa.2_Silent_p.T1009T	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	1009					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				lung(2)|breast(2)|pancreas(1)	5		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)						1038				0.176471	11.328858	14.683513	6	28	KEEP	---	---	---	---	capture		Silent	SNP	1445042	1445042	3783	3	C	A	A	A	275	22	CNTN6	2	2
PLOD2	5352	broad.mit.edu	37	3	145806427	145806427	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:145806427T>C	uc003evr.1	-	c.951A>G	c.(949-951)ATA>ATG	p.I317M	PLOD2_uc003evq.1_5'Flank|PLOD2_uc011bnm.1_Missense_Mutation_p.I262M|PLOD2_uc003evs.1_Missense_Mutation_p.I317M	NM_182943	NP_891988	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	317					oxidation-reduction process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)	1					Vitamin C(DB00126)									0.448276	44.372234	44.439651	13	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145806427	145806427	12528	3	T	C	C	C	628	49	PLOD2	4	4
NMD3	51068	broad.mit.edu	37	3	160951236	160951236	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:160951236G>T	uc003fec.2	+	c.326G>T	c.(325-327)AGA>ATA	p.R109I	NMD3_uc003feb.1_Missense_Mutation_p.R109I|NMD3_uc003fed.1_Missense_Mutation_p.R109I|NMD3_uc010hwh.2_5'Flank	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	NMD3 homolog	109					protein transport	cytoplasm|nucleolus|nucleoplasm				ovary(1)	1			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)											0.282609	31.752662	33.70754	13	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160951236	160951236	10891	3	G	T	T	T	429	33	NMD3	2	2
POLR2H	5437	broad.mit.edu	37	3	184082795	184082795	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:184082795C>G	uc003fok.1	+	c.115C>G	c.(115-117)CTA>GTA	p.L39V	POLR2H_uc003foj.1_Non-coding_Transcript	NM_006232	NP_006223	P52434	RPAB3_HUMAN	RNA polymerase II, polypeptide H	39					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA-directed RNA polymerase activity|protein binding|zinc ion binding				0	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)											0.139785	28.209143	39.86352	13	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	184082795	184082795	12649	3	C	G	G	G	415	32	POLR2H	3	3
EFHB	151651	broad.mit.edu	37	3	19975080	19975080	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:19975080C>A	uc003cbl.3	-	c.431G>T	c.(430-432)AGA>ATA	p.R144I	EFHB_uc003cbm.2_Intron	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	EF hand domain family, member B	144					signal transduction	proteinaceous extracellular matrix	calcium ion binding				0														0.186441	37.242964	48.172336	22	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19975080	19975080	5133	3	C	A	A	A	416	32	EFHB	2	2
CNTN4	152330	broad.mit.edu	37	3	3078979	3078979	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:3078979C>A	uc003bpc.2	+	c.2059C>A	c.(2059-2061)CGC>AGC	p.R687S	CNTN4_uc003bpb.1_Missense_Mutation_p.R358S|CNTN4_uc003bpd.1_Missense_Mutation_p.R687S|CNTN4_uc003bpe.2_Missense_Mutation_p.R359S|CNTN4_uc003bpf.2_Missense_Mutation_p.R358S|CNTN4_uc003bpg.2_5'Flank	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	687	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)										0.121795	49.686317	93.358464	38	274	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3078979	3078979	3781	3	C	A	A	A	299	23	CNTN4	1	1
GADL1	339896	broad.mit.edu	37	3	30891521	30891521	+	Silent	SNP	A	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:30891521A>C	uc003cep.2	-	c.618T>G	c.(616-618)GGT>GGG	p.G206G	GADL1_uc003ceq.1_Silent_p.G206G	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	206					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding				0					Pyridoxal Phosphate(DB00114)									0.108434	10.412302	23.032521	9	74	KEEP	---	---	---	---	capture		Silent	SNP	30891521	30891521	6436	3	A	C	C	C	15	2	GADL1	4	4
C3orf35	339883	broad.mit.edu	37	3	37458897	37458897	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:37458897G>T	uc003cha.3	+	c.140G>T	c.(139-141)AGA>ATA	p.R47I	C3orf35_uc003chb.2_Missense_Mutation_p.R47I	NM_178339	NP_848029	Q8IVJ8	APRG1_HUMAN	AP20 region protein isoform B	47						integral to membrane				central_nervous_system(1)	1														0.187919	53.604369	67.199217	28	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37458897	37458897	2318	3	G	T	T	T	429	33	C3orf35	2	2
SCN10A	6336	broad.mit.edu	37	3	38766748	38766748	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38766748C>A	uc003ciq.2	-	c.3145G>T	c.(3145-3147)GGC>TGC	p.G1049C		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1049					sensory perception	voltage-gated sodium channel complex				ovary(5)|large_intestine(1)|kidney(1)|skin(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)									0.152174	10.596957	15.924527	7	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38766748	38766748	14394	3	C	A	A	A	312	24	SCN10A	2	2
EIF1B	10289	broad.mit.edu	37	3	40352459	40352459	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:40352459A>T	uc003ckc.2	+	c.107A>T	c.(106-108)CAG>CTG	p.Q36L		NM_005875	NP_005866	O60739	EIF1B_HUMAN	translation factor sui1 homolog	36					regulation of translational initiation		protein binding|translation initiation factor activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)										0.142857	21.212913	32.400999	13	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40352459	40352459	5183	3	A	T	T	T	91	7	EIF1B	3	3
BSN	8927	broad.mit.edu	37	3	49694957	49694957	+	Silent	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:49694957C>T	uc003cxe.3	+	c.7968C>T	c.(7966-7968)GCC>GCT	p.A2656A		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	2656					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	zinc ion binding			ovary(5)|central_nervous_system(1)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)										0.277778	27.842386	29.437056	10	26	KEEP	---	---	---	---	capture		Silent	SNP	49694957	49694957	1561	3	C	T	T	T	262	21	BSN	2	2
CNTN3	5067	broad.mit.edu	37	3	74535768	74535768	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:74535768C>A	uc003dpm.1	-	c.197G>T	c.(196-198)GGA>GTA	p.G66V		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	66	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)	4		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)										0.154762	18.613417	28.191149	13	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74535768	74535768	3780	3	C	A	A	A	390	30	CNTN3	2	2
HTR1F	3355	broad.mit.edu	37	3	88039932	88039932	+	Silent	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:88039932G>A	uc003dqr.2	+	c.33G>A	c.(31-33)TTG>TTA	p.L11L		NM_000866	NP_000857	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F	11	Extracellular (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			ovary(3)	3	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)									0.108434	11.713308	36.962425	18	148	KEEP	---	---	---	---	capture		Silent	SNP	88039932	88039932	7740	3	G	A	A	A	581	45	HTR1F	2	2
EPHA3	2042	broad.mit.edu	37	3	89498500	89498500	+	Silent	SNP	A	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:89498500A>T	uc003dqy.2	+	c.2472A>T	c.(2470-2472)CCA>CCT	p.P824P	EPHA3_uc010hon.1_Non-coding_Transcript	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	824	Cytoplasmic (Potential).|Protein kinase.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding			lung(15)|ovary(7)|large_intestine(4)|central_nervous_system(2)|pancreas(1)	29	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)						416	TSP Lung(6;0.00050)			0.114679	35.922289	67.812983	25	193	KEEP	---	---	---	---	capture		Silent	SNP	89498500	89498500	5361	3	A	T	T	T	93	8	EPHA3	3	3
OR5K2	402135	broad.mit.edu	37	3	98217148	98217148	+	Silent	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:98217148C>A	uc011bgx.1	+	c.624C>A	c.(622-624)GTC>GTA	p.V208V		NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K,	208	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.160377	56.600913	79.895471	34	178	KEEP	---	---	---	---	capture		Silent	SNP	98217148	98217148	11577	3	C	A	A	A	405	32	OR5K2	2	2
NPNT	255743	broad.mit.edu	37	4	106890090	106890090	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:106890090G>T	uc011cfd.1	+	c.1731G>T	c.(1729-1731)GGG>GGT	p.G577G	NPNT_uc003hya.2_Silent_p.G547G|NPNT_uc011cfc.1_Silent_p.G564G|NPNT_uc011cfe.1_Silent_p.G548G|NPNT_uc010ilt.1_Intron|NPNT_uc011cff.1_Silent_p.G518G|NPNT_uc010ilu.1_Intron	NM_001033047	NP_001028219	Q6UXI9	NPNT_HUMAN	nephronectin precursor	547	MAM.				cell differentiation	membrane	calcium ion binding				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)										0.217391	10.862987	12.556661	5	18	KEEP	---	---	---	---	capture		Silent	SNP	106890090	106890090	10995	4	G	T	T	T	548	43	NPNT	2	2
RNF212	285498	broad.mit.edu	37	4	1073450	1073450	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:1073450G>C	uc003gcj.2	-	c.491C>G	c.(490-492)TCT>TGT	p.S164C	RNF212_uc003gch.2_Missense_Mutation_p.S6C|RNF212_uc003gci.2_Missense_Mutation_p.S164C|RNF212_uc010ibp.2_Intron|RNF212_uc010ibq.2_Intron	NM_001131034	NP_001124506	Q495C1	RN212_HUMAN	ring finger protein 212 isoform a	164							zinc ion binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)										0.161905	43.906372	55.319818	17	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1073450	1073450	13954	4	G	C	C	C	429	33	RNF212	3	3
CYP2U1	113612	broad.mit.edu	37	4	108866742	108866742	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:108866742G>T	uc003hyp.2	+	c.1107G>T	c.(1105-1107)TCG>TCT	p.S369S	CYP2U1_uc011cfi.1_Silent_p.S160S	NM_183075	NP_898898	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U,	369					oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)										0.117073	29.046481	58.619276	24	181	KEEP	---	---	---	---	capture		Silent	SNP	108866742	108866742	4340	4	G	T	T	T	483	38	CYP2U1	1	1
ALPK1	80216	broad.mit.edu	37	4	113353610	113353610	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:113353610C>G	uc003iap.3	+	c.2907C>G	c.(2905-2907)ATC>ATG	p.I969M	ALPK1_uc003ian.3_Missense_Mutation_p.I969M|ALPK1_uc011cfx.1_Missense_Mutation_p.I891M|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Missense_Mutation_p.I797M	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	969					protein phosphorylation		ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)						252				0.209302	54.202889	60.928104	18	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113353610	113353610	547	4	C	G	G	G	382	30	ALPK1	3	3
C4orf21	55345	broad.mit.edu	37	4	113541196	113541196	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:113541196G>A	uc003iau.2	-	c.313C>T	c.(313-315)CTT>TTT	p.L105F	C4orf21_uc003iaw.2_Missense_Mutation_p.L105F	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN	prematurely terminated mRNA decay factor-like	Error:Variant_position_missing_in_Q6ZU11_after_alignment						integral to membrane	zinc ion binding				0		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)										0.136986	18.596631	27.908635	10	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113541196	113541196	2349	4	G	A	A	A	429	33	C4orf21	2	2
SPRY1	10252	broad.mit.edu	37	4	124322828	124322828	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:124322828G>A	uc003ifa.2	+	c.82G>A	c.(82-84)GAC>AAC	p.D28N	SPRY1_uc003ifb.2_Missense_Mutation_p.D28N	NM_199327	NP_955359	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling	28					epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				skin(2)|ovary(1)	3														0.129412	50.004894	84.091633	33	222	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124322828	124322828	15619	4	G	A	A	A	429	33	SPRY1	2	2
PLK4	10733	broad.mit.edu	37	4	128816214	128816214	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:128816214C>G	uc003ifo.2	+	c.2669C>G	c.(2668-2670)TCT>TGT	p.S890C	PLK4_uc011cgs.1_Missense_Mutation_p.S858C|PLK4_uc011cgt.1_Missense_Mutation_p.S849C	NM_014264	NP_055079	O00444	PLK4_HUMAN	polo-like kinase 4	890					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|protein phosphorylation|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0						Colon(135;508 1718 19061 31832 42879)				258				0.122222	21.457512	34.035599	11	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128816214	128816214	12524	4	C	G	G	G	416	32	PLK4	3	3
INPP4B	8821	broad.mit.edu	37	4	143129581	143129581	+	Nonsense_Mutation	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:143129581T>A	uc003iix.3	-	c.1069A>T	c.(1069-1071)AAA>TAA	p.K357*	INPP4B_uc003iiw.3_Nonsense_Mutation_p.K357*|INPP4B_uc011chm.1_Non-coding_Transcript|INPP4B_uc011chn.1_Nonsense_Mutation_p.K172*|INPP4B_uc011cho.1_Intron|INPP4B_uc011chp.1_Nonsense_Mutation_p.K228*	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	357					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)									564				0.106667	5.047077	16.567645	8	67	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	143129581	143129581	8054	4	T	A	A	A	806	62	INPP4B	5	3
OTUD4	54726	broad.mit.edu	37	4	146067520	146067520	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:146067520C>A	uc003ika.3	-	c.1126G>T	c.(1126-1128)GGC>TGC	p.G376C	OTUD4_uc003ijz.3_Missense_Mutation_p.G375C	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	440							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)													0.098765	7.038325	20.080571	8	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146067520	146067520	11727	4	C	A	A	A	299	23	OTUD4	1	1
FBXW7	55294	broad.mit.edu	37	4	153244298	153244298	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:153244298G>C	uc003ims.2	-	c.1859C>G	c.(1858-1860)CCC>CGC	p.P620R	FBXW7_uc011cii.1_Missense_Mutation_p.P620R|FBXW7_uc003imt.2_Missense_Mutation_p.P620R|FBXW7_uc011cih.1_Missense_Mutation_p.P444R|FBXW7_uc003imq.2_Missense_Mutation_p.P540R|FBXW7_uc003imr.2_Missense_Mutation_p.P502R	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	620					interspecies interaction between organisms|negative regulation of DNA endoreduplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding			haematopoietic_and_lymphoid_tissue(123)|large_intestine(99)|stomach(16)|endometrium(13)|ovary(9)|biliary_tract(8)|lung(4)|central_nervous_system(3)|kidney(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|skin(1)|NS(1)|bone(1)	289	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)								266				0.159091	12.095111	16.969407	7	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153244298	153244298	6006	4	G	C	C	C	559	43	FBXW7	3	3
FHDC1	85462	broad.mit.edu	37	4	153896824	153896824	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:153896824G>C	uc003inf.2	+	c.2381G>C	c.(2380-2382)AGA>ACA	p.R794T		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	794					actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)													0.131783	34.980158	51.977688	17	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153896824	153896824	6114	4	G	C	C	C	429	33	FHDC1	3	3
TLR2	7097	broad.mit.edu	37	4	154624696	154624696	+	Silent	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:154624696C>T	uc003inq.2	+	c.637C>T	c.(637-639)CTG>TTG	p.L213L	TLR2_uc003inr.2_Silent_p.L213L|TLR2_uc003ins.2_Silent_p.L213L	NM_003264	NP_003255	O60603	TLR2_HUMAN	toll-like receptor 2 precursor	213	Extracellular (Potential).				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of inflammatory response|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding				0	all_hematologic(180;0.093)	Renal(120;0.117)												0.146067	22.711339	33.433888	13	76	KEEP	---	---	---	---	capture		Silent	SNP	154624696	154624696	16481	4	C	T	T	T	259	20	TLR2	2	2
GRIA2	2891	broad.mit.edu	37	4	158257770	158257770	+	Nonsense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:158257770G>A	uc003ipm.3	+	c.1715G>A	c.(1714-1716)TGG>TAG	p.W572*	GRIA2_uc011cit.1_Nonsense_Mutation_p.W525*|GRIA2_uc003ipl.3_Nonsense_Mutation_p.W572*|GRIA2_uc003ipk.3_Nonsense_Mutation_p.W525*|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	572	Cytoplasmic (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)									0.147541	27.966905	42.528882	18	104	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	158257770	158257770	7046	4	G	A	A	A	611	47	GRIA2	5	2
FSTL5	56884	broad.mit.edu	37	4	162459330	162459330	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:162459330C>A	uc003iqh.2	-	c.1300G>T	c.(1300-1302)GCT>TCT	p.A434S	FSTL5_uc003iqi.2_Missense_Mutation_p.A433S|FSTL5_uc010iqv.2_Missense_Mutation_p.A433S	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	434						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|large_intestine(1)|central_nervous_system(1)	6	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)										0.115538	26.680512	63.279393	29	222	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	162459330	162459330	6331	4	C	A	A	A	325	25	FSTL5	2	2
PALLD	23022	broad.mit.edu	37	4	169632897	169632897	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:169632897G>A	uc011cjx.1	+	c.1787G>A	c.(1786-1788)AGG>AAG	p.R596K	PALLD_uc003iru.2_Missense_Mutation_p.R596K|PALLD_uc003irv.2_Missense_Mutation_p.R214K	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN	palladin isoform 2	596					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			ovary(1)	1		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		Esophageal Squamous(109;1482 1532 18347 40239 51172)								0.368421	62.852616	63.722782	21	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169632897	169632897	11823	4	G	A	A	A	455	35	PALLD	2	2
GALNTL6	442117	broad.mit.edu	37	4	173803979	173803979	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:173803979G>A	uc003isv.2	+	c.962G>A	c.(961-963)CGG>CAG	p.R321Q		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	321	Catalytic subdomain B.|Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)	3														0.176471	75.159712	93.604807	33	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	173803979	173803979	6489	4	G	A	A	A	507	39	GALNTL6	1	1
FAT1	2195	broad.mit.edu	37	4	187540161	187540161	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:187540161C>A	uc003izf.2	-	c.7579G>T	c.(7579-7581)GTT>TTT	p.V2527F		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2527	Extracellular (Potential).|Cadherin 23.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						Colon(197;1040 2055 4143 4984 49344)								0.143836	37.278293	55.115323	21	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	187540161	187540161	5925	4	C	A	A	A	247	19	FAT1	1	1
GPR125	166647	broad.mit.edu	37	4	22390301	22390301	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:22390301C>A	uc003gqm.1	-	c.2993G>T	c.(2992-2994)GGG>GTG	p.G998V	GPR125_uc010ieo.1_Missense_Mutation_p.G854V|GPR125_uc003gql.1_Missense_Mutation_p.G125V	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	998	Helical; Name=6; (Potential).				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity				0		Breast(46;0.198)												0.178571	18.614665	24.062546	10	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22390301	22390301	6913	4	C	A	A	A	286	22	GPR125	2	2
GABRA2	2555	broad.mit.edu	37	4	46314713	46314713	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:46314713G>T	uc003gxc.3	-	c.276C>A	c.(274-276)TTC>TTA	p.F92L	GABRA2_uc010igc.2_Missense_Mutation_p.F92L|GABRA2_uc011bzc.1_Missense_Mutation_p.F37L|GABRA2_uc003gxe.2_Missense_Mutation_p.F92L	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	92	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)									0.212121	14.204595	16.734937	7	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46314713	46314713	6412	4	G	T	T	T	425	33	GABRA2	2	2
CNGA1	1259	broad.mit.edu	37	4	47939841	47939841	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:47939841G>C	uc003gxu.2	-	c.877C>G	c.(877-879)CTA>GTA	p.L293V	CNGA1_uc003gxt.3_Missense_Mutation_p.L224V	NM_001142564	NP_001136036	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	224	Cytoplasmic (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2														0.246377	44.038997	48.080811	17	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47939841	47939841	3734	4	G	C	C	C	451	35	CNGA1	3	3
SPATA18	132671	broad.mit.edu	37	4	52945942	52945942	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:52945942G>T	uc003gzl.2	+	c.1212G>T	c.(1210-1212)AAG>AAT	p.K404N	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.1_Missense_Mutation_p.K372N|SPATA18_uc003gzk.1_Missense_Mutation_p.K404N	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18 homolog	404					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			ovary(2)	2			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)											0.113703	34.851474	85.374343	39	304	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52945942	52945942	15511	4	G	T	T	T	425	33	SPATA18	2	2
LNX1	84708	broad.mit.edu	37	4	54347885	54347885	+	Splice_Site_SNP	SNP	A	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:54347885A>G	uc003hag.3	-	c.1485_splice	c.e7+1	p.K495_splice	PDGFRA_uc003haa.2_Intron|LNX1_uc003haf.3_Splice_Site_SNP_p.K399_splice|LNX1_uc003hah.3_Splice_Site_SNP	NM_001126328	NP_001119800			ligand of numb-protein X 1 isoform a							cytoplasm	zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)											0.176471	11.234887	14.58482	6	28	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	54347885	54347885	9194	4	A	G	G	G	78	6	LNX1	5	4
PPP2R2C	5522	broad.mit.edu	37	4	6349667	6349667	+	Silent	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:6349667C>T	uc003gja.2	-	c.696G>A	c.(694-696)CCG>CCA	p.P232P	PPP2R2C_uc003gjb.2_Silent_p.P215P|PPP2R2C_uc003gjc.2_Silent_p.P232P|PPP2R2C_uc011bwd.1_Silent_p.P225P|PPP2R2C_uc011bwe.1_Silent_p.P225P|PPP2R2C_uc003gjd.1_Silent_p.P320P	NM_181876	NP_870991	Q9Y2T4	2ABG_HUMAN	gamma isoform of regulatory subunit B55, protein	232	WD 4.				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3														0.216667	25.688691	30.103516	13	47	KEEP	---	---	---	---	capture		Silent	SNP	6349667	6349667	12822	4	C	T	T	T	340	27	PPP2R2C	1	1
CENPC1	1060	broad.mit.edu	37	4	68374577	68374577	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:68374577C>A	uc003hdd.1	-	c.1859G>T	c.(1858-1860)AGT>ATT	p.S620I	CENPC1_uc010ihj.1_Non-coding_Transcript|CENPC1_uc010ihk.1_Non-coding_Transcript|CENPC1_uc010ihm.1_Missense_Mutation_p.S620I	NM_001812	NP_001803	Q03188	CENPC_HUMAN	centromere protein C 1	620					mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding			urinary_tract(1)|lung(1)	2														0.168675	29.903802	38.526592	14	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68374577	68374577	3362	4	C	A	A	A	260	20	CENPC1	2	2
UBA6	55236	broad.mit.edu	37	4	68488607	68488607	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:68488607C>G	uc003hdg.3	-	c.2965G>C	c.(2965-2967)GGA>CGA	p.G989R		NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	ubiquitin-activating enzyme E1-like 2	989					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding				0														0.103093	11.978215	27.195742	10	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68488607	68488607	17389	4	C	G	G	G	286	22	UBA6	3	3
EPGN	255324	broad.mit.edu	37	4	75178861	75178861	+	Silent	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:75178861T>A	uc003hhw.2	+	c.354T>A	c.(352-354)GTT>GTA	p.V118V	EPGN_uc003hhx.1_Intron|EPGN_uc003hhy.1_Intron|EPGN_uc003hhz.1_Intron|EPGN_uc010iin.1_Intron|EPGN_uc003hia.1_Intron|EPGN_uc003hib.1_Intron|EPGN_uc003hic.1_Silent_p.V127V	NM_001013442	NP_001013460	Q6UW88	EPGN_HUMAN	epithelial mitogen	127	Helical; (Potential).				activation of MAPK activity|angiogenesis|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	extracellular region|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity				0			Lung(101;0.196)											0.132075	9.340104	16.267384	7	46	KEEP	---	---	---	---	capture		Silent	SNP	75178861	75178861	5357	4	T	A	A	A	782	61	EPGN	3	3
FRAS1	80144	broad.mit.edu	37	4	79393416	79393416	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:79393416C>G	uc003hlb.2	+	c.7454C>G	c.(7453-7455)ACG>AGG	p.T2485R		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2484	CSPG 12.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5														0.166667	15.508898	19.926591	7	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79393416	79393416	6288	4	C	G	G	G	247	19	FRAS1	3	3
RASGEF1B	153020	broad.mit.edu	37	4	82369249	82369249	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:82369249C>A	uc003hmi.1	-	c.628G>T	c.(628-630)GCC>TCC	p.A210S	RASGEF1B_uc003hmj.1_Missense_Mutation_p.A209S|RASGEF1B_uc010ijq.1_Missense_Mutation_p.A168S	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	210	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0														0.10274	9.130354	31.991758	15	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82369249	82369249	13531	4	C	A	A	A	338	26	RASGEF1B	2	2
WDFY3	23001	broad.mit.edu	37	4	85639672	85639672	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:85639672C>A	uc003hpd.2	-	c.7657G>T	c.(7657-7659)GGG>TGG	p.G2553W	WDFY3_uc003hpe.1_Missense_Mutation_p.G164W	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2553						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)										0.130081	19.018651	35.398205	16	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85639672	85639672	17842	4	C	A	A	A	286	22	WDFY3	2	2
WDFY3	23001	broad.mit.edu	37	4	85678286	85678286	+	Silent	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:85678286C>A	uc003hpd.2	-	c.5217G>T	c.(5215-5217)GGG>GGT	p.G1739G		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1739						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)										0.263889	40.184919	43.82141	19	53	KEEP	---	---	---	---	capture		Silent	SNP	85678286	85678286	17842	4	C	A	A	A	379	30	WDFY3	2	2
PDHA2	5161	broad.mit.edu	37	4	96761513	96761513	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:96761513G>A	uc003htr.3	+	c.212G>A	c.(211-213)CGC>CAC	p.R71H		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor	71					glycolysis|oxidation-reduction process	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)									0.114943	9.407695	22.102525	10	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96761513	96761513	12086	4	G	A	A	A	494	38	PDHA2	1	1
CTNND2	1501	broad.mit.edu	37	5	11199641	11199641	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:11199641G>T	uc003jfa.1	-	c.1894C>A	c.(1894-1896)CTG>ATG	p.L632M	CTNND2_uc010itt.2_Missense_Mutation_p.L541M|CTNND2_uc011cmy.1_Missense_Mutation_p.L295M|CTNND2_uc011cmz.1_Missense_Mutation_p.L199M|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.L199M	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	632	ARM 4.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|pancreas(1)|lung(1)|skin(1)	7														0.484127	361.324411	361.380198	122	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11199641	11199641	4179	5	G	T	T	T	451	35	CTNND2	2	2
AQPEP	206338	broad.mit.edu	37	5	115335573	115335573	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:115335573C>G	uc003kro.2	+	c.1489C>G	c.(1489-1491)CTC>GTC	p.L497V	AQPEP_uc003krp.2_Non-coding_Transcript|AQPEP_uc003krq.2_Non-coding_Transcript|AQPEP_uc003krr.2_Non-coding_Transcript|AQPEP_uc003krs.2_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	497	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0														0.271028	93.927168	98.985987	29	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115335573	115335573	845	5	C	G	G	G	260	20	AQPEP	3	3
FBN2	2201	broad.mit.edu	37	5	127800495	127800495	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:127800495G>T	uc003kuu.2	-	c.748C>A	c.(748-750)CCC>ACC	p.P250T	FBN2_uc003kuv.2_Missense_Mutation_p.P217T|FBN2_uc003kuw.3_Missense_Mutation_p.P250T|FBN2_uc003kux.1_Missense_Mutation_p.P250T	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	250	TB 1.				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				0.245283	52.389353	58.663006	26	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127800495	127800495	5939	5	G	T	T	T	533	41	FBN2	2	2
SEPT8	23176	broad.mit.edu	37	5	132100012	132100012	+	Missense_Mutation	SNP	C	A	A	rs76417071	by1000genomes	TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:132100012C>A	uc003kxr.2	-	c.251G>T	c.(250-252)CGG>CTG	p.R84L	SEPT8_uc003kxs.1_Missense_Mutation_p.R84L|SEPT8_uc003kxu.2_Missense_Mutation_p.R84L|SEPT8_uc011cxi.1_Missense_Mutation_p.R84L|SEPT8_uc003kxv.2_Missense_Mutation_p.R84L|SEPT8_uc003kxt.2_Missense_Mutation_p.R24L	NM_001098811	NP_001092281	Q92599	SEPT8_HUMAN	septin 8 isoform a	84					cell cycle	septin complex	GTP binding|protein binding			ovary(2)	2		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)											0.186441	22.815843	28.231746	11	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132100012	132100012	14556	5	C	A	A	A	299	23	SEPT8	1	1
DDX46	9879	broad.mit.edu	37	5	134126186	134126186	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:134126186A>T	uc003kzw.2	+	c.1570A>T	c.(1570-1572)ACA>TCA	p.T524S	DDX46_uc003kzv.1_Non-coding_Transcript	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	524	Helicase ATP-binding.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			Colon(13;391 453 4901 21675 24897)								0.263158	46.761402	50.620915	20	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134126186	134126186	4535	5	A	T	T	T	130	10	DDX46	3	3
TRPC7	57113	broad.mit.edu	37	5	135692429	135692429	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:135692429C>A	uc003lbn.1	-	c.644G>T	c.(643-645)CGC>CTC	p.R215L	TRPC7_uc010jef.1_Missense_Mutation_p.R207L|TRPC7_uc010jeg.1_Non-coding_Transcript|TRPC7_uc010jeh.1_Missense_Mutation_p.R207L|TRPC7_uc010jei.1_Missense_Mutation_p.R207L|TRPC7_uc010jej.1_5'UTR	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	216	Cytoplasmic (Potential).				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)											0.157895	10.124673	14.366719	6	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135692429	135692429	17135	5	C	A	A	A	351	27	TRPC7	1	1
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139908217	139908217	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:139908217G>T	uc003lfs.1	+	c.5686G>T	c.(5686-5688)GTG>TTG	p.V1896L	ANKHD1_uc003lfr.2_Missense_Mutation_p.V1896L|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.V635L|ANKHD1_uc003lfw.2_Missense_Mutation_p.V534L|ANKHD1_uc010jfl.2_Missense_Mutation_p.V331L|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.V33L	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1896						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.223404	48.419376	55.036686	21	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139908217	139908217	632	5	G	T	T	T	624	48	ANKHD1-EIF4EBP3	2	2
PCDHA1	56147	broad.mit.edu	37	5	140168129	140168129	+	Nonsense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140168129C>T	uc003lhb.2	+	c.2254C>T	c.(2254-2256)CAG>TAG	p.Q752*	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Nonsense_Mutation_p.Q752*	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	752	Cytoplasmic (Potential).|5 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.333333	26.910783	27.724213	11	22	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	140168129	140168129	11939	5	C	T	T	T	221	17	PCDHA1	5	2
PCDHA10	56139	broad.mit.edu	37	5	140237095	140237095	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140237095C>A	uc003lhx.2	+	c.1462C>A	c.(1462-1464)CTG>ATG	p.L488M	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_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.L488M|PCDHA10_uc011dad.1_Missense_Mutation_p.L488M	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	488	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|breast(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.5	97.106503	97.106503	35	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140237095	140237095	11940	5	C	A	A	A	311	24	PCDHA10	2	2
PCDHA13	56136	broad.mit.edu	37	5	140262802	140262802	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140262802G>A	uc003lif.2	+	c.949G>A	c.(949-951)GAA>AAA	p.E317K	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_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.E317K|PCDHA13_uc003lid.2_Missense_Mutation_p.E317K	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	317	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			Melanoma(147;1739 1852 5500 27947 37288)								0.282609	95.95558	101.821749	39	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140262802	140262802	11943	5	G	A	A	A	585	45	PCDHA13	2	2
PCDHB1	29930	broad.mit.edu	37	5	140432667	140432667	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140432667G>T	uc003lik.1	+	c.1612G>T	c.(1612-1614)GGC>TGC	p.G538C		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	538	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.228916	37.287101	42.882228	19	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140432667	140432667	11954	5	G	T	T	T	559	43	PCDHB1	2	2
PCDHB4	56131	broad.mit.edu	37	5	140502399	140502399	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140502399C>A	uc003lip.1	+	c.819C>A	c.(817-819)TTC>TTA	p.F273L		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	273	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.25	114.205142	125.118804	48	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140502399	140502399	11964	5	C	A	A	A	402	31	PCDHB4	1	1
PCDHB6	56130	broad.mit.edu	37	5	140530549	140530549	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140530549C>A	uc003lir.2	+	c.711C>A	c.(709-711)AAC>AAA	p.N237K	PCDHB6_uc011dah.1_Missense_Mutation_p.N101K	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	237	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.145161	16.534756	24.043221	9	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140530549	140530549	11966	5	C	A	A	A	246	19	PCDHB6	1	1
PCDHB8	56128	broad.mit.edu	37	5	140559495	140559495	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140559495C>T	uc011dai.1	+	c.1880C>T	c.(1879-1881)ACC>ATC	p.T627I	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	627	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.234568	40.68837	45.908828	19	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140559495	140559495	11968	5	C	T	T	T	234	18	PCDHB8	2	2
PCDHB15	56121	broad.mit.edu	37	5	140625580	140625580	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140625580C>G	uc003lje.2	+	c.434C>G	c.(433-435)ACT>AGT	p.T145S		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	145	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.172662	58.807592	72.879819	24	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140625580	140625580	11960	5	C	G	G	G	260	20	PCDHB15	3	3
PCDHB15	56121	broad.mit.edu	37	5	140625593	140625593	+	Silent	SNP	G	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140625593G>C	uc003lje.2	+	c.447G>C	c.(445-447)GGG>GGC	p.G149G		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	149	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.150794	48.351139	63.062526	19	107	KEEP	---	---	---	---	capture		Silent	SNP	140625593	140625593	11960	5	G	C	C	C	522	41	PCDHB15	3	3
PCDHB15	56121	broad.mit.edu	37	5	140626431	140626432	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140626431_140626432CC>AA	uc003lje.2	+	c.1285_1286CC>AA	c.(1285-1287)CCA>AAA	p.P429K		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	429	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.213333	66.608042	78.005978	32	118	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	140626431	140626432	11960	5	CC	AA	AA	AA	390	30	PCDHB15	2	2
KCTD16	57528	broad.mit.edu	37	5	143586702	143586702	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:143586702C>A	uc003lnm.1	+	c.425C>A	c.(424-426)GCC>GAC	p.A142D	KCTD16_uc003lnn.1_Missense_Mutation_p.A142D	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	potassium channel tetramerisation domain	142						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(2)|ovary(1)	3		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)											0.271028	72.233585	77.289791	29	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143586702	143586702	8409	5	C	A	A	A	338	26	KCTD16	2	2
SPARC	6678	broad.mit.edu	37	5	151046061	151046061	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:151046061T>C	uc003luh.2	-	c.595A>G	c.(595-597)ATC>GTC	p.I199V	GM2A_uc011dcs.1_Intron|SPARC_uc003lug.2_Missense_Mutation_p.I33V|SPARC_uc003lui.2_Missense_Mutation_p.I199V	NM_003118	NP_003109	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich	199					ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding			central_nervous_system(1)	1		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)									0.176471	13.523997	16.888799	6	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151046061	151046061	15503	5	T	C	C	C	650	50	SPARC	4	4
NMUR2	56923	broad.mit.edu	37	5	151784176	151784176	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:151784176G>T	uc003luv.2	-	c.499C>A	c.(499-501)CTC>ATC	p.L167I		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	167	Helical; Name=4; (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			ovary(2)	2		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)											0.25	52.502351	57.716247	23	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151784176	151784176	10910	5	G	T	T	T	455	35	NMUR2	2	2
FAM114A2	10827	broad.mit.edu	37	5	153413916	153413916	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:153413916G>T	uc003lvb.2	-	c.232C>A	c.(232-234)CCC>ACC	p.P78T	FAM114A2_uc003lvc.2_Missense_Mutation_p.P78T|FAM114A2_uc003lvd.2_Missense_Mutation_p.P78T|FAM114A2_uc003lve.2_Intron|FAM114A2_uc011dda.1_Intron	NM_018691	NP_061161	Q9NRY5	F1142_HUMAN	hypothetical protein LOC10827	78							purine nucleotide binding				0														0.2	34.262159	40.568385	15	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153413916	153413916	5601	5	G	T	T	T	572	44	FAM114A2	2	2
EBF1	1879	broad.mit.edu	37	5	158523984	158523984	+	Nonsense_Mutation	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:158523984T>A	uc011ddx.1	-	c.289A>T	c.(289-291)AAA>TAA	p.K97*	EBF1_uc011ddw.1_5'Flank|EBF1_uc010jip.2_Nonsense_Mutation_p.K97*|EBF1_uc003lxl.3_Nonsense_Mutation_p.K97*	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	early B-cell factor	97					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|transcription regulator activity		HMGA2/EBF1(2)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											0.3	20.65853	21.733856	9	21	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	158523984	158523984	5066	5	T	A	A	A	832	64	EBF1	5	3
ATP10B	23120	broad.mit.edu	37	5	160029594	160029594	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:160029594T>C	uc003lym.1	-	c.3353A>G	c.(3352-3354)TAC>TGC	p.Y1118C	ATP10B_uc010jit.1_Missense_Mutation_p.Y435C	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1118	Helical; (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											0.128205	10.489531	15.706315	5	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160029594	160029594	1136	5	T	C	C	C	741	57	ATP10B	4	4
MARCH11	441061	broad.mit.edu	37	5	16091000	16091000	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:16091000A>G	uc003jfo.2	-	c.884T>C	c.(883-885)ATA>ACA	p.I295T	MARCH11_uc010itw.1_Missense_Mutation_p.I51T	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	295	Helical; (Potential).					cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding				0														0.255814	35.311883	37.632224	11	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16091000	16091000	9683	5	A	G	G	G	208	16	MARCH11	4	4
MAML1	9794	broad.mit.edu	37	5	179193482	179193482	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:179193482A>T	uc003mkm.2	+	c.1471A>T	c.(1471-1473)AGT>TGT	p.S491C	MAML1_uc003mkn.1_Missense_Mutation_p.S491C	NM_014757	NP_055572	Q92585	MAML1_HUMAN	mastermind-like 1	491					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			lung(3)|ovary(2)	5	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)							189				0.350877	52.383438	53.501255	20	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179193482	179193482	9588	5	A	T	T	T	143	11	MAML1	3	3
MAPK9	5601	broad.mit.edu	37	5	179691800	179691800	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:179691800G>C	uc003mls.3	-	c.292C>G	c.(292-294)CTA>GTA	p.L98V	MAPK9_uc003mlt.3_Missense_Mutation_p.L98V|MAPK9_uc010jlc.2_Missense_Mutation_p.L98V|MAPK9_uc003mlv.3_Missense_Mutation_p.L98V|MAPK9_uc011dgx.1_Missense_Mutation_p.L98V	NM_002752	NP_002743	P45984	MK09_HUMAN	mitogen-activated protein kinase 9 isoform JNK2	98	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|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|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)							167				0.315789	21.04348	21.616738	6	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179691800	179691800	9670	5	G	C	C	C	425	33	MAPK9	3	3
FLT4	2324	broad.mit.edu	37	5	180057260	180057260	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:180057260C>A	uc003mlz.3	-	c.478G>T	c.(478-480)GTG>TTG	p.V160L	FLT4_uc003mma.3_Missense_Mutation_p.V160L|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.1_Missense_Mutation_p.V160L|FLT4_uc011dgz.1_Missense_Mutation_p.V160L|FLT4_uc011dha.1_Missense_Mutation_p.W143C	NM_182925	NP_891555	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 1	160	Ig-like C2-type 2.|Extracellular (Potential).				positive regulation of cell proliferation|protein phosphorylation	integral to plasma membrane	ATP binding|protein binding|vascular endothelial growth factor receptor activity			lung(3)|ovary(1)|central_nervous_system(1)|kidney(1)|skin(1)	7	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	Colon(97;1075 1466 27033 27547 35871)				2638				0.153846	17.06945	24.469607	10	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	180057260	180057260	6186	5	C	A	A	A	234	18	FLT4	2	2
PRDM9	56979	broad.mit.edu	37	5	23527537	23527537	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:23527537G>T	uc003jgo.2	+	c.2340G>T	c.(2338-2340)GAG>GAT	p.E780D		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	780	C2H2-type 11.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6														0.363229	216.453012	220.145839	81	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23527537	23527537	12906	5	G	T	T	T	464	36	PRDM9	2	2
CDH10	1008	broad.mit.edu	37	5	24488132	24488132	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:24488132G>T	uc003jgr.1	-	c.2007C>A	c.(2005-2007)GCC>GCA	p.A669A	CDH10_uc011cnu.1_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	669	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)										0.606061	179.735421	180.724828	60	39	KEEP	---	---	---	---	capture		Silent	SNP	24488132	24488132	3225	5	G	T	T	T	444	35	CDH10	2	2
CDH10	1008	broad.mit.edu	37	5	24537495	24537495	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:24537495C>G	uc003jgr.1	-	c.520G>C	c.(520-522)GTT>CTT	p.V174L	CDH10_uc011cnu.1_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	174	Cadherin 2.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)										0.132701	61.846456	89.487803	28	183	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24537495	24537495	3225	5	C	G	G	G	221	17	CDH10	3	3
ADAMTS12	81792	broad.mit.edu	37	5	33535001	33535001	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33535001C>A	uc003jia.1	-	c.4543G>T	c.(4543-4545)GAT>TAT	p.D1515Y	ADAMTS12_uc010iuq.1_Missense_Mutation_p.D1430Y	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1515	TSP type-1 8.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|lung(1)|kidney(1)|skin(1)	7														0.109375	11.847065	31.19874	14	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33535001	33535001	258	5	C	A	A	A	377	29	ADAMTS12	2	2
GHR	2690	broad.mit.edu	37	5	42718755	42718755	+	Silent	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:42718755C>A	uc003jmt.2	+	c.1146C>A	c.(1144-1146)GGC>GGA	p.G382G	GHR_uc011cpq.1_Silent_p.G195G	NM_000163	NP_000154	P10912	GHR_HUMAN	growth hormone receptor precursor	382	Cytoplasmic (Potential).				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			lung(2)|kidney(1)	3		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)					274				0.104651	14.624946	41.382307	18	154	KEEP	---	---	---	---	capture		Silent	SNP	42718755	42718755	6639	5	C	A	A	A	340	27	GHR	1	1
NSUN2	54888	broad.mit.edu	37	5	6620303	6620303	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:6620303G>A	uc003jdu.2	-	c.731C>T	c.(730-732)TCC>TTC	p.S244F	NSUN2_uc003jdt.2_Missense_Mutation_p.S8F|NSUN2_uc011cmk.1_Missense_Mutation_p.S209F|NSUN2_uc003jdv.2_Missense_Mutation_p.S8F	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	NOL1/NOP2/Sun domain family, member 2	244						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			ovary(1)	1														0.100529	12.15454	42.360036	19	170	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6620303	6620303	11083	5	G	A	A	A	533	41	NSUN2	2	2
FAM169A	26049	broad.mit.edu	37	5	74130338	74130338	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:74130338G>T	uc003kdm.2	-	c.403C>A	c.(403-405)CCA>ACA	p.P135T	FAM169A_uc010izm.2_Missense_Mutation_p.P135T|FAM169A_uc003kdl.2_Intron	NM_015566	NP_056381	Q9Y6X4	F169A_HUMAN	hypothetical protein LOC26049	135											0														0.386364	44.364144	44.861529	17	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74130338	74130338	5691	5	G	T	T	T	559	43	FAM169A	2	2
BVES	11149	broad.mit.edu	37	6	105581345	105581345	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:105581345G>C	uc003pqw.2	-	c.108C>G	c.(106-108)AAC>AAG	p.N36K	BVES_uc003pqx.2_Missense_Mutation_p.N36K|BVES_uc003pqy.2_Missense_Mutation_p.N36K	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance isoform 5	36	Extracellular (Potential).				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity				0		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)												0.098485	16.470898	37.760444	13	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105581345	105581345	1609	6	G	C	C	C	464	36	BVES	3	3
BVES	11149	broad.mit.edu	37	6	105581378	105581378	+	Silent	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:105581378T>A	uc003pqw.2	-	c.75A>T	c.(73-75)ATA>ATT	p.I25I	BVES_uc003pqx.2_Silent_p.I25I|BVES_uc003pqy.2_Silent_p.I25I	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance isoform 5	25	Extracellular (Potential).				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity				0		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)												0.125	13.873335	32.652395	17	119	KEEP	---	---	---	---	capture		Silent	SNP	105581378	105581378	1609	6	T	A	A	A	732	57	BVES	3	3
REV3L	5980	broad.mit.edu	37	6	111695285	111695285	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:111695285T>A	uc003puy.3	-	c.4273A>T	c.(4273-4275)AGT>TGT	p.S1425C	REV3L_uc003pux.3_Missense_Mutation_p.S1347C|REV3L_uc003puz.3_Missense_Mutation_p.S1347C	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	1425					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(1)|skin(1)	4		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)										0.09292	12.301072	49.979098	21	205	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111695285	111695285	13710	6	T	A	A	A	715	55	REV3L	3	3
GPRC6A	222545	broad.mit.edu	37	6	117121902	117121902	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:117121902C>T	uc003pxj.1	-	c.1393G>A	c.(1393-1395)GAT>AAT	p.D465N	GPRC6A_uc003pxk.1_Missense_Mutation_p.D290N|GPRC6A_uc003pxl.1_Intron	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	465	Extracellular (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)	4		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)										0.159091	21.183507	30.942576	14	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117121902	117121902	7004	6	C	T	T	T	377	29	GPRC6A	2	2
DCBLD1	285761	broad.mit.edu	37	6	117864321	117864321	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:117864321G>T	uc003pxs.2	+	c.1392G>T	c.(1390-1392)GTG>GTT	p.V464V	GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Silent_p.V464V|DCBLD1_uc003pxt.1_Silent_p.V119V	NM_173674	NP_775945	Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	464	Helical; (Potential).				cell adhesion	integral to membrane				ovary(1)	1		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)						15				0.110795	36.25042	89.009207	39	313	KEEP	---	---	---	---	capture		Silent	SNP	117864321	117864321	4451	6	G	T	T	T	587	46	DCBLD1	2	2
LAMA2	3908	broad.mit.edu	37	6	129637025	129637025	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:129637025G>T	uc003qbn.2	+	c.3854G>T	c.(3853-3855)AGA>ATA	p.R1285I	LAMA2_uc003qbo.2_Missense_Mutation_p.R1285I	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1285	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)										0.213235	60.491491	70.833047	29	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129637025	129637025	8929	6	G	T	T	T	429	33	LAMA2	2	2
LAMA2	3908	broad.mit.edu	37	6	129777622	129777622	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:129777622C>A	uc003qbn.2	+	c.6850C>A	c.(6850-6852)CTG>ATG	p.L2284M	LAMA2_uc003qbo.2_Missense_Mutation_p.L2284M	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2284	Laminin G-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)										0.089109	2.438064	71.501843	36	368	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129777622	129777622	8929	6	C	A	A	A	311	24	LAMA2	2	2
SAMD3	154075	broad.mit.edu	37	6	130465809	130465809	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:130465809A>T	uc003qbv.2	-	c.1419T>A	c.(1417-1419)TTT>TTA	p.F473L	SAMD3_uc003qbx.2_Missense_Mutation_p.F473L|SAMD3_uc003qbw.2_Missense_Mutation_p.F473L	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3 isoform	473										ovary(1)	1				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)										0.32381	75.785801	78.69429	34	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130465809	130465809	14300	6	A	T	T	T	115	9	SAMD3	3	3
MOXD1	26002	broad.mit.edu	37	6	132619061	132619061	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:132619061T>A	uc003qdf.2	-	c.1542A>T	c.(1540-1542)CAA>CAT	p.Q514H	MOXD1_uc003qde.2_Missense_Mutation_p.Q446H	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1 isoform 2	514	Lumenal (Potential).				catecholamine metabolic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			ovary(1)	1	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)										0.117647	8.55029	18.327849	8	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132619061	132619061	10112	6	T	A	A	A	673	52	MOXD1	3	3
EYA4	2070	broad.mit.edu	37	6	133834083	133834083	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:133834083G>T	uc011ecs.1	+	c.1426G>T	c.(1426-1428)GGT>TGT	p.G476C	EYA4_uc011ecq.1_Missense_Mutation_p.G416C|EYA4_uc011ecr.1_Missense_Mutation_p.G422C|EYA4_uc003qec.3_Missense_Mutation_p.G470C|EYA4_uc003qed.3_Missense_Mutation_p.G470C|EYA4_uc003qee.3_Missense_Mutation_p.G447C	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	470					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		Melanoma(57;398 1237 3528 4702 7415)								0.337838	67.847894	69.57094	25	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133834083	133834083	5525	6	G	T	T	T	455	35	EYA4	2	2
BCLAF1	9774	broad.mit.edu	37	6	136582537	136582537	+	Missense_Mutation	SNP	G	T	T	rs34541670	byFrequency	TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:136582537G>T	uc003qgx.1	-	c.2623C>A	c.(2623-2625)CGC>AGC	p.R875S	BCLAF1_uc011edb.1_Missense_Mutation_p.R154S|BCLAF1_uc003qgw.1_Missense_Mutation_p.R702S|BCLAF1_uc003qgy.1_Missense_Mutation_p.R824S|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R873S	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	875					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|transcription repressor activity			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		Colon(142;1534 1789 5427 7063 28491)								0.10219	33.037819	97.82803	42	369	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136582537	136582537	1404	6	G	T	T	T	494	38	BCLAF1	1	1
CCDC28A	25901	broad.mit.edu	37	6	139100986	139100986	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:139100986G>T	uc003qie.2	+	c.456G>T	c.(454-456)CAG>CAT	p.Q152H		NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	152											0				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)										0.212766	43.942511	51.114283	20	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139100986	139100986	2924	6	G	T	T	T	451	35	CCDC28A	2	2
MTHFD1L	25902	broad.mit.edu	37	6	151413614	151413614	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:151413614G>T	uc011eeo.1	+	c.2862G>T	c.(2860-2862)ATG>ATT	p.M954I	MTHFD1L_uc011een.1_Non-coding_Transcript|MTHFD1L_uc003qob.2_Missense_Mutation_p.M953I|MTHFD1L_uc003qoc.2_Missense_Mutation_p.M901I	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+	953	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			ovary(3)|large_intestine(1)	4		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)										0.235772	68.523453	76.369555	29	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151413614	151413614	10321	6	G	T	T	T	598	46	MTHFD1L	2	2
SYNE1	23345	broad.mit.edu	37	6	152686025	152686025	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:152686025C>A	uc010kiw.2	-	c.10102G>T	c.(10102-10104)GAT>TAT	p.D3368Y	SYNE1_uc003qot.3_Missense_Mutation_p.D3375Y|SYNE1_uc003qou.3_Missense_Mutation_p.D3368Y|SYNE1_uc010kja.1_Missense_Mutation_p.D73Y	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3368	Spectrin 7.|HAT 6.|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)										0.227273	71.158531	81.666276	35	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152686025	152686025	15966	6	C	A	A	A	390	30	SYNE1	2	2
SYNE1	23345	broad.mit.edu	37	6	152809592	152809592	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:152809592T>A	uc010kiw.2	-	c.986A>T	c.(985-987)CAA>CTA	p.Q329L	SYNE1_uc003qot.3_Missense_Mutation_p.Q336L|SYNE1_uc003qou.3_Missense_Mutation_p.Q329L|SYNE1_uc010kjb.1_Missense_Mutation_p.Q312L|SYNE1_uc003qpa.1_Missense_Mutation_p.Q329L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	329	Potential.|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)										0.140845	16.602659	25.440728	10	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152809592	152809592	15966	6	T	A	A	A	819	63	SYNE1	3	3
RBM16	22828	broad.mit.edu	37	6	155145395	155145395	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:155145395G>T	uc011efj.1	+	c.2152G>T	c.(2152-2154)GTT>TTT	p.V718F	RBM16_uc011efk.1_Missense_Mutation_p.V697F|RBM16_uc003qqa.2_Missense_Mutation_p.V652F|RBM16_uc003qpz.2_Missense_Mutation_p.V652F|RBM16_uc010kji.2_Missense_Mutation_p.V673F	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	RNA-binding motif protein 16	652	Pro-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding				0		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)										0.186603	79.095762	98.333871	39	170	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155145395	155145395	13579	6	G	T	T	T	468	36	RBM16	2	2
ZDHHC14	79683	broad.mit.edu	37	6	157963732	157963732	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:157963732C>T	uc003qqt.2	+	c.361C>T	c.(361-363)CCA>TCA	p.P121S	ZDHHC14_uc003qqs.2_Missense_Mutation_p.P121S|ZDHHC14_uc010kjm.1_Missense_Mutation_p.P16S	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14 isoform 1	121						integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|skin(1)	2		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)										0.28	12.583613	13.696111	7	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157963732	157963732	18192	6	C	T	T	T	286	22	ZDHHC14	2	2
SLC22A2	6582	broad.mit.edu	37	6	160677683	160677683	+	Missense_Mutation	SNP	A	G	G	rs8177509	byFrequency	TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:160677683A>G	uc003qte.1	-	c.481T>C	c.(481-483)TTT>CTT	p.F161L	SLC22A2_uc003qtf.2_Missense_Mutation_p.F161L|SLC22A2_uc003qth.1_Missense_Mutation_p.F161L	NM_003058	NP_003049	O15244	S22A2_HUMAN	solute carrier family 22 member 2	161	Helical; (Potential).				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)										0.256	101.042832	107.78972	32	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160677683	160677683	14947	6	A	G	G	G	39	3	SLC22A2	4	4
PLG	5340	broad.mit.edu	37	6	161158002	161158002	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:161158002C>A	uc003qtm.3	+	c.1765C>A	c.(1765-1767)CCA>ACA	p.P589T		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	589	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)									0.180851	31.678225	40.634244	17	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161158002	161158002	12512	6	C	A	A	A	286	22	PLG	2	2
MLLT4	4301	broad.mit.edu	37	6	168352255	168352255	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:168352255G>T	uc003qwd.2	+	c.4197G>T	c.(4195-4197)CCG>CCT	p.P1399P	MLLT4_uc003qwb.1_Silent_p.P1384P|MLLT4_uc003qwc.1_Silent_p.P1400P|MLLT4_uc003qwg.1_Silent_p.P709P	NM_001040001	NP_001035090	E9PHS7	E9PHS7_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1400					signal transduction					ovary(2)|kidney(1)|central_nervous_system(1)	4		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)					p.P1399P(CPCN-Tumor)	1250				0.276923	100.245994	106.074588	36	94	KEEP	---	---	---	---	capture		Silent	SNP	168352255	168352255	10019	6	G	T	T	T	509	40	MLLT4	1	1
TRIM27	5987	broad.mit.edu	37	6	28876835	28876835	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:28876835C>A	uc003nlr.2	-	c.801G>T	c.(799-801)TGG>TGT	p.W267C	TRIM27_uc003nls.2_Missense_Mutation_p.W267C|TRIM27_uc003nlt.1_Missense_Mutation_p.W267C	NM_006510	NP_006501	P14373	TRI27_HUMAN	ret finger protein	267					cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			ovary(1)	1														0.108974	13.650722	37.291804	17	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28876835	28876835	17045	6	C	A	A	A	390	30	TRIM27	2	2
OR2H2	7932	broad.mit.edu	37	6	29555777	29555777	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29555777C>A	uc003nmr.1	+	c.56C>A	c.(55-57)CCA>CAA	p.P19Q	GABBR1_uc003nmp.3_Intron	NM_007160	NP_009091	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H,	19	Extracellular (Potential).				defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.090226	5.697319	50.766344	24	242	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29555777	29555777	11408	6	C	A	A	A	273	21	OR2H2	2	2
CFB	629	broad.mit.edu	37	6	31916238	31916238	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31916238A>T	uc011dor.1	+	c.2491A>T	c.(2491-2493)AGC>TGC	p.S831C	CFB_uc003nyi.2_Missense_Mutation_p.S329C|CFB_uc003nyj.3_Missense_Mutation_p.S329C	NM_001710	NP_001701	P00751	CFAB_HUMAN	complement factor B preproprotein	329	VWFA.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity				0														0.132812	23.786572	40.544567	17	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31916238	31916238	3411	6	A	T	T	T	91	7	CFB	3	3
NOTCH4	4855	broad.mit.edu	37	6	32168733	32168733	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32168733G>A	uc003obb.2	-	c.4190C>T	c.(4189-4191)CCG>CTG	p.P1397L	NOTCH4_uc003oba.2_Missense_Mutation_p.P60L|NOTCH4_uc011dpu.1_Non-coding_Transcript|NOTCH4_uc011dpv.1_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1397	Extracellular (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			ovary(5)|lung(5)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	14										693				0.169811	18.244622	23.710271	9	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32168733	32168733	10954	6	G	A	A	A	507	39	NOTCH4	1	1
TFEB	7942	broad.mit.edu	37	6	41658482	41658482	+	Silent	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:41658482G>A	uc003oqu.1	-	c.429C>T	c.(427-429)CAC>CAT	p.H143H	TFEB_uc003oqs.1_Silent_p.H129H|TFEB_uc003oqt.1_Silent_p.H129H|TFEB_uc003oqv.1_Silent_p.H129H|TFEB_uc010jxo.1_Silent_p.H129H|TFEB_uc003oqx.1_Silent_p.H129H|TFEB_uc003oqr.1_Intron|TFEB_uc003oqw.1_Silent_p.H129H	NM_007162	NP_009093	P19484	TFEB_HUMAN	transcription factor EB	129				GSPKPPPAASPGVRAGHVLSSSAGNSAPN -> ALRNPHQP PPQGCELDTCCPPPLATVLPI (in Ref. 1; AAA36730).	embryonic placenta development|humoral immune response|positive regulation of gene-specific transcription from RNA polymerase II promoter	cytoplasm	promoter binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)							134				0.230769	34.292007	38.609665	15	50	KEEP	---	---	---	---	capture		Silent	SNP	41658482	41658482	16329	6	G	A	A	A	516	40	TFEB	1	1
MRPL2	51069	broad.mit.edu	37	6	43023909	43023909	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:43023909C>A	uc003ots.1	-	c.430G>T	c.(430-432)GGG>TGG	p.G144W	CUL7_uc011dvb.1_5'Flank|CUL7_uc003otq.2_5'Flank|CUL7_uc010jyh.2_5'Flank|KLC4_uc003otr.1_Intron|MRPL2_uc011dvc.1_Missense_Mutation_p.G144W	NM_015950	NP_057034	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2 precursor	144					translation	mitochondrion|ribosome	structural constituent of ribosome				0		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)										0.180556	51.153621	64.977483	26	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43023909	43023909	10178	6	C	A	A	A	273	21	MRPL2	2	2
AARS2	57505	broad.mit.edu	37	6	44270894	44270894	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:44270894G>A	uc010jza.1	-	c.2164C>T	c.(2164-2166)CGG>TGG	p.R722W	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	722					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)									0.169014	18.547613	25.928788	12	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44270894	44270894	21	6	G	A	A	A	493	38	AARS2	1	1
GPR116	221395	broad.mit.edu	37	6	46826211	46826211	+	Silent	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:46826211C>A	uc003oyo.3	-	c.3429G>T	c.(3427-3429)TCG>TCT	p.S1143S	GPR116_uc011dwj.1_Silent_p.S698S|GPR116_uc011dwk.1_Silent_p.S572S|GPR116_uc003oyp.3_Silent_p.S1001S|GPR116_uc003oyq.3_Silent_p.S1143S|GPR116_uc010jzi.1_Silent_p.S815S	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	1143	Helical; Name=4; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)	1			Lung(136;0.192)			NSCLC(59;410 1274 8751 36715 50546)								0.304348	35.532049	37.103726	14	32	KEEP	---	---	---	---	capture		Silent	SNP	46826211	46826211	6907	6	C	A	A	A	288	23	GPR116	1	1
PGK2	5232	broad.mit.edu	37	6	49754060	49754060	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:49754060T>A	uc003ozu.2	-	c.841A>T	c.(841-843)ACT>TCT	p.T281S		NM_138733	NP_620061	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	281					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			ovary(1)	1	Lung NSC(77;0.0402)													0.101266	23.399076	73.49964	32	284	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49754060	49754060	12214	6	T	A	A	A	741	57	PGK2	3	3
C6orf142	90523	broad.mit.edu	37	6	54025355	54025355	+	Silent	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:54025355C>G	uc011dxa.1	+	c.2397C>G	c.(2395-2397)CTC>CTG	p.L799L	C6orf142_uc003pcf.2_Silent_p.L788L|C6orf142_uc003pcg.3_Silent_p.L264L|C6orf142_uc003pch.3_Intron	NM_138569	NP_612636	Q5VWP3	CF142_HUMAN	hypothetical protein LOC90523	264											0	Lung NSC(77;0.0317)													0.18	22.741834	27.559335	9	41	KEEP	---	---	---	---	capture		Silent	SNP	54025355	54025355	2437	6	C	G	G	G	405	32	C6orf142	3	3
KHDRBS2	202559	broad.mit.edu	37	6	62611152	62611152	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:62611152G>A	uc003peg.2	-	c.608C>T	c.(607-609)TCA>TTA	p.S203L		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			ovary(3)|liver(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(397;0.149)										0.111111	12.318176	32.516619	15	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62611152	62611152	8453	6	G	A	A	A	585	45	KHDRBS2	2	2
LY86	9450	broad.mit.edu	37	6	6589040	6589040	+	Missense_Mutation	SNP	A	G	G	rs75006006	byFrequency;by1000genomes	TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:6589040A>G	uc003mwy.1	+	c.73A>G	c.(73-75)AAA>GAA	p.K25E	LOC285780_uc003mww.3_Intron|LOC285780_uc003mwx.2_Intron	NM_004271	NP_004262	O95711	LY86_HUMAN	MD-1, RP105-associated precursor	25					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane					0	Ovarian(93;0.0377)													0.154639	25.154204	36.295158	15	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6589040	6589040	9477	6	A	G	G	G	117	9	LY86	4	4
B3GAT2	135152	broad.mit.edu	37	6	71571616	71571616	+	Nonsense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:71571616G>A	uc003pfv.2	-	c.802C>T	c.(802-804)CAG>TAG	p.Q268*	SMAP1_uc003pfr.2_3'UTR|SMAP1_uc003pfs.2_3'UTR|SMAP1_uc010kao.2_3'UTR|SMAP1_uc010kap.2_3'UTR|B3GAT2_uc011dxz.1_Non-coding_Transcript|B3GAT2_uc003pfw.2_Nonsense_Mutation_p.Q268*	NM_080742	NP_542780	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	268	Lumenal (Potential).				carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(2)	2														0.128713	18.001467	31.56781	13	88	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	71571616	71571616	1275	6	G	A	A	A	611	47	B3GAT2	5	2
ZAN	7455	broad.mit.edu	37	7	100345219	100345219	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100345219C>A	uc003uwj.2	+	c.978C>A	c.(976-978)AAC>AAA	p.N326K	ZAN_uc003uwk.2_Missense_Mutation_p.N326K|ZAN_uc003uwl.2_Non-coding_Transcript|ZAN_uc010lhh.2_Non-coding_Transcript|ZAN_uc010lhi.2_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	326	MAM 2.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)											0.10989	17.956846	45.395475	20	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100345219	100345219	18096	7	C	A	A	A	259	20	ZAN	2	2
MUC17	140453	broad.mit.edu	37	7	100681105	100681105	+	Silent	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100681105T>A	uc003uxp.1	+	c.6408T>A	c.(6406-6408)TCT>TCA	p.S2136S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2136	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|34.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.223704	344.183439	391.549758	151	524	KEEP	---	---	---	---	capture		Silent	SNP	100681105	100681105	10368	7	T	A	A	A	678	53	MUC17	3	3
TRIM56	81844	broad.mit.edu	37	7	100732027	100732027	+	Silent	SNP	G	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100732027G>C	uc003uxq.2	+	c.1434G>C	c.(1432-1434)CTG>CTC	p.L478L	TRIM56_uc003uxr.2_Intron	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	tripartite motif-containing 56	478					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|central_nervous_system(1)|skin(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)					Ovarian(89;1092 1379 22756 38989 39611)								0.238845	257.514888	281.260563	91	290	KEEP	---	---	---	---	capture		Silent	SNP	100732027	100732027	17076	7	G	C	C	C	600	47	TRIM56	3	3
MOGAT3	346606	broad.mit.edu	37	7	100841620	100841620	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100841620G>T	uc003uyc.2	-	c.520C>A	c.(520-522)CTG>ATG	p.L174M	MOGAT3_uc010lhr.2_Missense_Mutation_p.L174M	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	174					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			ovary(2)	2	Lung NSC(181;0.168)|all_lung(186;0.215)													0.237705	65.109972	72.782573	29	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100841620	100841620	10087	7	G	T	T	T	451	35	MOGAT3	2	2
EMID2	136227	broad.mit.edu	37	7	101091001	101091001	+	Silent	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:101091001C>G	uc010lhy.1	+	c.312C>G	c.(310-312)TCC>TCG	p.S104S	EMID2_uc003uyo.1_Silent_p.S106S	NM_133457	NP_597714	Q96A83	EMID2_HUMAN	EMI domain containing 2	106	EMI.					collagen				ovary(1)	1	Lung NSC(181;0.215)													0.170732	14.997536	19.202878	7	34	KEEP	---	---	---	---	capture		Silent	SNP	101091001	101091001	5284	7	C	G	G	G	301	24	EMID2	3	3
RELN	5649	broad.mit.edu	37	7	103130329	103130329	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:103130329C>A	uc003vca.2	-	c.9623G>T	c.(9622-9624)TGG>TTG	p.W3208L	RELN_uc010liz.2_Missense_Mutation_p.W3208L	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	3208					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|large_intestine(2)|central_nervous_system(2)|pancreas(1)|skin(1)	14				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		NSCLC(146;835 1944 15585 22231 52158)								0.203883	44.822996	53.202583	21	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103130329	103130329	13689	7	C	A	A	A	273	21	RELN	2	2
SLC26A4	5172	broad.mit.edu	37	7	107323753	107323753	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107323753G>T	uc003vep.2	+	c.872G>T	c.(871-873)CGG>CTG	p.R291L		NM_000441	NP_000432	O43511	S26A4_HUMAN	pendrin	291	Cytoplasmic (Potential).				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			ovary(3)|central_nervous_system(2)	5														0.104869	22.522295	63.962307	28	239	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107323753	107323753	15016	7	G	T	T	T	507	39	SLC26A4	1	1
DOCK4	9732	broad.mit.edu	37	7	111638539	111638539	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:111638539T>A	uc003vfy.2	-	c.182A>T	c.(181-183)TAC>TTC	p.Y61F	DOCK4_uc003vfx.2_Missense_Mutation_p.Y61F|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Missense_Mutation_p.Y61F|DOCK4_uc003vgb.1_5'UTR	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	61	SH3.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(1;0.0441)												0.363636	11.897471	12.077242	4	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111638539	111638539	4873	7	T	A	A	A	741	57	DOCK4	3	3
C7orf58	79974	broad.mit.edu	37	7	120781037	120781037	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:120781037A>T	uc003vjq.3	+	c.1856A>T	c.(1855-1857)AAG>ATG	p.K619M	C7orf58_uc003vjs.3_Missense_Mutation_p.K619M|C7orf58_uc003vjt.3_Missense_Mutation_p.K399M	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	619						endoplasmic reticulum				ovary(4)|large_intestine(2)|pancreas(1)	7	all_neural(327;0.117)													0.184211	13.001542	16.558149	7	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120781037	120781037	2512	7	A	T	T	T	39	3	C7orf58	3	3
C7orf58	79974	broad.mit.edu	37	7	120876814	120876814	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:120876814C>A	uc003vjq.3	+	c.2102C>A	c.(2101-2103)CCT>CAT	p.P701H	C7orf58_uc003vjs.3_Missense_Mutation_p.P701H|C7orf58_uc003vjt.3_Missense_Mutation_p.P481H	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	701						endoplasmic reticulum				ovary(4)|large_intestine(2)|pancreas(1)	7	all_neural(327;0.117)													0.121212	14.032169	27.952691	12	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120876814	120876814	2512	7	C	A	A	A	312	24	C7orf58	2	2
ASB15	142685	broad.mit.edu	37	7	123267198	123267198	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:123267198G>T	uc003vku.1	+	c.732G>T	c.(730-732)GCG>GCT	p.A244A	ASB15_uc003vkv.1_Silent_p.A244A|ASB15_uc003vkw.1_Silent_p.A244A	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box-containing 15	244	ANK 5.				intracellular signal transduction					lung(1)	1														0.267677	151.049028	160.658641	53	145	KEEP	---	---	---	---	capture		Silent	SNP	123267198	123267198	1037	7	G	T	T	T	509	40	ASB15	1	1
GRM8	2918	broad.mit.edu	37	7	126173711	126173711	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:126173711G>T	uc003vlr.2	-	c.1725C>A	c.(1723-1725)ATC>ATA	p.I575I	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.I575I|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	575	Extracellular (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				ovary(5)|pancreas(1)	6		Prostate(267;0.186)			L-Glutamic Acid(DB00142)									0.168067	35.01795	47.447208	20	99	KEEP	---	---	---	---	capture		Silent	SNP	126173711	126173711	7082	7	G	T	T	T	577	45	GRM8	2	2
PAX4	5078	broad.mit.edu	37	7	127253575	127253575	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:127253575C>A	uc010lld.1	-	c.550G>T	c.(550-552)GGG>TGG	p.G184W	PAX4_uc003vmf.2_Missense_Mutation_p.G182W|PAX4_uc003vmg.1_Missense_Mutation_p.G184W|PAX4_uc003vmh.2_Missense_Mutation_p.G182W	NM_006193	NP_006184	O43316	PAX4_HUMAN	paired box 4	192	Homeobox.				cell differentiation|endocrine pancreas development|organ morphogenesis|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1						Ovarian(113;737 1605 7858 27720 34092)								0.375	95.858122	97.181218	36	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127253575	127253575	11901	7	C	A	A	A	273	21	PAX4	2	2
C7orf45	136263	broad.mit.edu	37	7	129853326	129853326	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:129853326G>A	uc003vpp.2	+	c.190G>A	c.(190-192)GAG>AAG	p.E64K		NM_145268	NP_660311	Q8WWF3	CG045_HUMAN	hypothetical protein LOC136263	64						integral to membrane					0	Melanoma(18;0.0435)													0.117647	26.067389	60.43121	28	210	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129853326	129853326	2502	7	G	A	A	A	585	45	C7orf45	2	2
TSGA13	114960	broad.mit.edu	37	7	130364188	130364188	+	Silent	SNP	A	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:130364188A>G	uc003vqi.2	-	c.192T>C	c.(190-192)CCT>CCC	p.P64P	TSGA13_uc003vqj.2_Silent_p.P64P	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN	testis specific, 13	64										ovary(2)	2	Melanoma(18;0.0435)													0.162162	29.153069	37.182492	12	62	KEEP	---	---	---	---	capture		Silent	SNP	130364188	130364188	17170	7	A	G	G	G	28	3	TSGA13	4	4
PLXNA4	91584	broad.mit.edu	37	7	131870132	131870132	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:131870132G>C	uc003vra.3	-	c.3084C>G	c.(3082-3084)ATC>ATG	p.I1028M		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1028	IPT/TIG 2.|Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1														0.184049	76.291747	91.535495	30	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131870132	131870132	12548	7	G	C	C	C	525	41	PLXNA4	3	3
CALD1	800	broad.mit.edu	37	7	134617840	134617840	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:134617840G>T	uc003vrz.2	+	c.320G>T	c.(319-321)CGC>CTC	p.R107L	CALD1_uc003vry.2_Missense_Mutation_p.R107L|CALD1_uc003vsa.2_Missense_Mutation_p.R107L|CALD1_uc003vsb.2_Missense_Mutation_p.R107L|CALD1_uc010lmm.2_Missense_Mutation_p.R107L|CALD1_uc011kpt.1_Intron|CALD1_uc003vsc.2_Missense_Mutation_p.R101L|CALD1_uc003vsd.2_Missense_Mutation_p.R101L|CALD1_uc011kpu.1_Missense_Mutation_p.R112L|CALD1_uc011kpv.1_5'UTR|CALD1_uc003vse.2_5'UTR	NM_033138	NP_149129	Q05682	CALD1_HUMAN	caldesmon 1 isoform 1	107	Myosin and calmodulin-binding (By similarity).				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding				0														0.151899	20.148895	29.3145	12	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134617840	134617840	2697	7	G	T	T	T	494	38	CALD1	1	1
DGKI	9162	broad.mit.edu	37	7	137080403	137080403	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:137080403G>T	uc003vtt.2	-	c.3022C>A	c.(3022-3024)CGG>AGG	p.R1008R	DGKI_uc003vtu.2_Silent_p.R677R	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	1008	ANK 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2														0.189873	31.084914	38.18677	15	64	KEEP	---	---	---	---	capture		Silent	SNP	137080403	137080403	4650	7	G	T	T	T	506	39	DGKI	1	1
AKR1D1	6718	broad.mit.edu	37	7	137776546	137776546	+	Silent	SNP	C	A	A	rs113371817		TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:137776546C>A	uc003vtz.2	+	c.294C>A	c.(292-294)GTC>GTA	p.V98V	AKR1D1_uc011kqb.1_Silent_p.V98V|AKR1D1_uc011kqc.1_Non-coding_Transcript|AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqe.1_Silent_p.V98V|AKR1D1_uc011kqf.1_Silent_p.V98V|AKR1D1_uc010lmy.1_Non-coding_Transcript	NM_005989	NP_005980	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	98					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion|oxidation-reduction process	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding				0														0.333333	113.153407	116.401997	44	88	KEEP	---	---	---	---	capture		Silent	SNP	137776546	137776546	476	7	C	A	A	A	379	30	AKR1D1	2	2
MGAM	8972	broad.mit.edu	37	7	141805626	141805626	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:141805626G>C	uc003vwy.2	+	c.5509G>C	c.(5509-5511)GAT>CAT	p.D1837H		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	1837	Lumenal (Potential).				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)									0.102857	23.833149	51.318013	18	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141805626	141805626	9931	7	G	C	C	C	481	37	MGAM	3	3
PIP	5304	broad.mit.edu	37	7	142829235	142829235	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142829235G>T	uc003wcf.1	+	c.26G>T	c.(25-27)AGG>ATG	p.R9M		NM_002652	NP_002643	P12273	PIP_HUMAN	prolactin-induced protein precursor	9						extracellular region	actin binding			ovary(1)	1	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)										0.131126	112.520528	212.482101	99	656	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142829235	142829235	12359	7	G	T	T	T	455	35	PIP	2	2
TPK1	27010	broad.mit.edu	37	7	144245652	144245652	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:144245652C>A	uc003weq.2	-	c.545G>T	c.(544-546)TGG>TTG	p.W182L	TPK1_uc003weo.2_Missense_Mutation_p.W128L|TPK1_uc003wep.2_Non-coding_Transcript|TPK1_uc003wer.2_Missense_Mutation_p.W133L|TPK1_uc003wes.2_Non-coding_Transcript	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1 isoform a	182					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			ovary(2)	2					Thiamine(DB00152)	Ovarian(45;88 1034 2073 5829 28455)								0.123711	12.532822	25.970407	12	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144245652	144245652	16948	7	C	A	A	A	273	21	TPK1	2	2
CNTNAP2	26047	broad.mit.edu	37	7	147092811	147092811	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:147092811G>C	uc003weu.1	+	c.1609G>C	c.(1609-1611)GCA>CCA	p.A537P		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	537	Extracellular (Potential).|Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)											0.112033	43.9796	79.783895	27	214	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147092811	147092811	3785	7	G	C	C	C	546	42	CNTNAP2	3	3
CNTNAP2	26047	broad.mit.edu	37	7	147914500	147914500	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:147914500C>T	uc003weu.1	+	c.3131C>T	c.(3130-3132)CCG>CTG	p.P1044L		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	1044	Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)											0.12749	36.041334	70.046287	32	219	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147914500	147914500	3785	7	C	T	T	T	299	23	CNTNAP2	1	1
GIMAP2	26157	broad.mit.edu	37	7	150389421	150389421	+	Missense_Mutation	SNP	A	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150389421A>C	uc003who.2	+	c.47A>C	c.(46-48)CAA>CCA	p.Q16P	GIMAP1_uc003whp.2_Intron	NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	16						integral to membrane	GTP binding				0			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)										0.139241	19.970507	29.909064	11	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150389421	150389421	6648	7	A	C	C	C	65	5	GIMAP2	4	4
GIMAP1	170575	broad.mit.edu	37	7	150417236	150417236	+	Silent	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150417236G>A	uc003whp.2	+	c.168G>A	c.(166-168)CTG>CTA	p.L56L	GIMAP1_uc003whq.2_Silent_p.L48L	NM_130759	NP_570115	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	48	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)										0.32872	267.821421	275.340921	95	194	KEEP	---	---	---	---	capture		Silent	SNP	150417236	150417236	6647	7	G	A	A	A	600	47	GIMAP1	2	2
PTPRN2	5799	broad.mit.edu	37	7	157341681	157341681	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:157341681C>T	uc011kwa.1	-	c.3004G>A	c.(3004-3006)GAG>AAG	p.E1002K	PTPRN2_uc003wno.2_Missense_Mutation_p.E979K|PTPRN2_uc003wnp.2_Missense_Mutation_p.E962K|PTPRN2_uc003wnq.2_Missense_Mutation_p.E950K|PTPRN2_uc003wnr.2_Missense_Mutation_p.E941K|PTPRN2_uc003wnn.2_Non-coding_Transcript	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	979	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)	6	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)										0.089005	5.55686	38.123986	17	174	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157341681	157341681	13265	7	C	T	T	T	390	30	PTPRN2	2	2
PTPRN2	5799	broad.mit.edu	37	7	157414103	157414103	+	Silent	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:157414103G>A	uc011kwa.1	-	c.2364C>T	c.(2362-2364)GCC>GCT	p.A788A	PTPRN2_uc003wno.2_Silent_p.A765A|PTPRN2_uc003wnp.2_Silent_p.A748A|PTPRN2_uc003wnq.2_Silent_p.A736A|PTPRN2_uc003wnr.2_Silent_p.A727A	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	765	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)	6	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)										0.153846	155.522536	222.517967	90	495	KEEP	---	---	---	---	capture		Silent	SNP	157414103	157414103	13265	7	G	A	A	A	548	43	PTPRN2	2	2
PTPRN2	5799	broad.mit.edu	37	7	157691364	157691364	+	Splice_Site_SNP	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:157691364C>A	uc011kwa.1	-	c.1857_splice	c.e12+1	p.S619_splice	PTPRN2_uc003wno.2_Splice_Site_SNP_p.S596_splice|PTPRN2_uc003wnp.2_Splice_Site_SNP_p.S579_splice|PTPRN2_uc003wnq.2_Splice_Site_SNP_p.S567_splice|PTPRN2_uc003wnr.2_Splice_Site_SNP_p.S558_splice	NM_002847	NP_002838			protein tyrosine phosphatase, receptor type, N							integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)	6	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)										0.303191	312.577198	325.5951	114	262	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	157691364	157691364	13265	7	C	A	A	A	234	18	PTPRN2	5	2
PTPRN2	5799	broad.mit.edu	37	7	157985049	157985049	+	Silent	SNP	G	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:157985049G>C	uc011kwa.1	-	c.588C>G	c.(586-588)ACC>ACG	p.T196T	PTPRN2_uc003wno.2_Silent_p.T173T|PTPRN2_uc003wnp.2_Silent_p.T156T|PTPRN2_uc003wnq.2_Silent_p.T173T|PTPRN2_uc003wnr.2_Silent_p.T135T	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	173	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)	6	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)										0.337349	80.622808	82.590474	28	55	KEEP	---	---	---	---	capture		Silent	SNP	157985049	157985049	13265	7	G	C	C	C	548	43	PTPRN2	3	3
WDR60	55112	broad.mit.edu	37	7	158716322	158716323	+	Missense_Mutation	DNP	GG	CT	CT			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:158716322_158716323GG>CT	uc003woe.3	+	c.2155_2156GG>CT	c.(2155-2157)GGC>CTC	p.G719L	WDR60_uc010lqv.2_Non-coding_Transcript|WDR60_uc010lqw.2_Missense_Mutation_p.G351L	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	719	WD 1.									ovary(2)|breast(1)	3	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)										0.317597	241.252725	248.099646	74	159	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	158716322	158716323	17884	7	GG	CT	CT	CT	507	39	WDR60	3	3
ABCB5	340273	broad.mit.edu	37	7	20666195	20666195	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:20666195G>T	uc010kuh.2	+	c.69G>T	c.(67-69)CAG>CAT	p.Q23H		NM_001163941	NP_001157413	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	Error:Variant_position_missing_in_Q2M3G0_after_alignment					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			large_intestine(1)|ovary(1)|pancreas(1)	3														0.25	16.108322	17.701838	7	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20666195	20666195	45	7	G	T	T	T	438	34	ABCB5	2	2
DNAH11	8701	broad.mit.edu	37	7	21750234	21750234	+	Silent	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:21750234G>A	uc003svc.2	+	c.6768G>A	c.(6766-6768)AAG>AAA	p.K2256K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2256	AAA 2 (By similarity).				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														0.125	8.413575	15.010465	6	42	KEEP	---	---	---	---	capture		Silent	SNP	21750234	21750234	4781	7	G	A	A	A	438	34	DNAH11	2	2
IGF2BP3	10643	broad.mit.edu	37	7	23390963	23390963	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:23390963C>A	uc003swg.2	-	c.644G>T	c.(643-645)GGT>GTT	p.G215V		NM_006547	NP_006538	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding	215	KH 1.				anatomical structure morphogenesis|negative regulation of translation|regulation of cytokine biosynthetic process|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			ovary(2)	2														0.277108	116.67643	124.101018	46	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23390963	23390963	7876	7	C	A	A	A	234	18	IGF2BP3	2	2
PDE1C	5137	broad.mit.edu	37	7	31867988	31867988	+	Splice_Site_SNP	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:31867988C>G	uc003tco.1	-	c.1384_splice	c.e13-1	p.G462_splice	PDE1C_uc003tcm.1_Splice_Site_SNP_p.G402_splice|PDE1C_uc003tcn.1_Splice_Site_SNP_p.G402_splice|PDE1C_uc003tcr.2_Splice_Site_SNP_p.G402_splice|PDE1C_uc003tcs.2_Splice_Site_SNP_p.G402_splice	NM_005020	NP_005011			phosphodiesterase 1C						activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			central_nervous_system(1)	1			GBM - Glioblastoma multiforme(11;0.216)											0.105263	10.539869	22.312061	8	68	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	31867988	31867988	12056	7	C	G	G	G	312	24	PDE1C	5	3
BBS9	27241	broad.mit.edu	37	7	33384214	33384214	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:33384214G>A	uc003tdn.1	+	c.1297G>A	c.(1297-1299)GGA>AGA	p.G433R	BBS9_uc003tdo.1_Missense_Mutation_p.G433R|BBS9_uc003tdp.1_Missense_Mutation_p.G433R|BBS9_uc003tdq.1_Missense_Mutation_p.G433R|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc003tdr.1_5'UTR|BBS9_uc011kao.1_Missense_Mutation_p.G311R	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	433					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|skin(1)	4			GBM - Glioblastoma multiforme(11;0.0894)											0.246479	181.087362	197.653686	70	214	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33384214	33384214	1363	7	G	A	A	A	559	43	BBS9	2	2
AOAH	313	broad.mit.edu	37	7	36571916	36571916	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:36571916C>G	uc003tfh.3	-	c.1341G>C	c.(1339-1341)TTG>TTC	p.L447F	AOAH_uc010kxf.2_Missense_Mutation_p.L447F|AOAH_uc011kba.1_Missense_Mutation_p.L415F	NM_001637	NP_001628	P28039	AOAH_HUMAN	acyloxyacyl hydrolase precursor	447					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity				0														0.136929	62.802703	93.556748	33	208	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36571916	36571916	736	7	C	G	G	G	220	17	AOAH	3	3
PKD1L1	168507	broad.mit.edu	37	7	47867068	47867068	+	Splice_Site_SNP	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:47867068T>A	uc003tny.1	-	c.6736_splice	c.e45-1	p.V2246_splice	C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_Splice_Site_SNP	NM_138295	NP_612152			polycystin-1L1						cell-cell adhesion	integral to membrane				ovary(7)|breast(1)	8														0.166667	14.099561	18.524124	7	35	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	47867068	47867068	12388	7	T	A	A	A	715	55	PKD1L1	5	3
RADIL	55698	broad.mit.edu	37	7	4917651	4917651	+	Silent	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:4917651G>A	uc003snj.1	-	c.120C>T	c.(118-120)GAC>GAT	p.D40D	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc011jwd.1_Non-coding_Transcript	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Rap GTPase interactor	40					cell adhesion|multicellular organismal development|signal transduction		protein binding			central_nervous_system(2)|pancreas(2)|breast(1)	5		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)										0.230769	20.253188	22.84532	9	30	KEEP	---	---	---	---	capture		Silent	SNP	4917651	4917651	13457	7	G	A	A	A	464	36	RADIL	2	2
PRKAR1B	5575	broad.mit.edu	37	7	590070	590070	+	Silent	SNP	G	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:590070G>C	uc003siu.1	-	c.1143C>G	c.(1141-1143)GTC>GTG	p.V381V	PRKAR1B_uc003siv.2_Silent_p.V381V|PRKAR1B_uc003siw.1_Silent_p.V381V	NM_002735	NP_002726	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type	381	cAMP 2.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity				0		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)						35				0.136364	6.509549	9.32609	3	19	KEEP	---	---	---	---	capture		Silent	SNP	590070	590070	12947	7	G	C	C	C	418	33	PRKAR1B	3	3
PRKAR1B	5575	broad.mit.edu	37	7	624175	624175	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:624175C>T	uc003siu.1	-	c.739G>A	c.(739-741)GAG>AAG	p.E247K	PRKAR1B_uc003siv.2_Missense_Mutation_p.E247K|PRKAR1B_uc003siw.1_Missense_Mutation_p.E247K|PRKAR1B_uc003six.1_Non-coding_Transcript	NM_002735	NP_002726	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type	247	cAMP 1.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity				0		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)						35				0.163636	16.643166	22.552414	9	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	624175	624175	12947	7	C	T	T	T	403	31	PRKAR1B	1	1
COL28A1	340267	broad.mit.edu	37	7	7420475	7420475	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:7420475C>A	uc003src.1	-	c.2224G>T	c.(2224-2226)GGC>TGC	p.G742C	COL28A1_uc011jxe.1_Missense_Mutation_p.G425C	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	742	Collagen-like 6.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity				0		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)										0.123333	35.538479	77.224285	37	263	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7420475	7420475	3824	7	C	A	A	A	286	22	COL28A1	2	2
UPK3B	80761	broad.mit.edu	37	7	76140183	76140183	+	Missense_Mutation	SNP	G	A	A	rs111500882		TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:76140183G>A	uc003ufq.2	+	c.214G>A	c.(214-216)GTC>ATC	p.V72I	UPK3B_uc003ufo.2_Intron|UPK3B_uc010ldk.1_Intron	NM_030570	NP_085047	Q9BT76	UPK3B_HUMAN	uroplakin 3B isoform a	72	Lumenal (Potential).				negative regulation of gene expression	integral to membrane|plasma membrane				central_nervous_system(1)	1		Myeloproliferative disorder(862;0.204)												0.181818	7.691685	9.780569	4	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76140183	76140183	17571	7	G	A	A	A	520	40	UPK3B	1	1
SEMA3E	9723	broad.mit.edu	37	7	83036465	83036465	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:83036465T>A	uc003uhy.1	-	c.761A>T	c.(760-762)GAG>GTG	p.E254V		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	254	Sema.				axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)												0.298851	64.01242	67.160969	26	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83036465	83036465	14514	7	T	A	A	A	702	54	SEMA3E	3	3
AKAP9	10142	broad.mit.edu	37	7	91641910	91641910	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:91641910G>T	uc003ulg.2	+	c.3486G>T	c.(3484-3486)CAG>CAT	p.Q1162H	AKAP9_uc003ule.2_Missense_Mutation_p.Q1174H|AKAP9_uc003ulf.2_Missense_Mutation_p.Q1162H|AKAP9_uc003uli.2_Missense_Mutation_p.Q787H	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	1174	Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.Q1174H(1)|p.Q1162H(1)		ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)	14	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)							807				0.119403	13.995811	33.064864	16	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91641910	91641910	462	7	G	T	T	T	425	33	AKAP9	2	2
SAMD9	54809	broad.mit.edu	37	7	92732395	92732395	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:92732395G>T	uc003umf.2	-	c.3016C>A	c.(3016-3018)CAA>AAA	p.Q1006K	SAMD9_uc003umg.2_Missense_Mutation_p.Q1006K	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1006						cytoplasm				ovary(3)|breast(1)|central_nervous_system(1)	5	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)											0.092025	3.988591	31.3247	15	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92732395	92732395	14306	7	G	T	T	T	585	45	SAMD9	2	2
SAMD9	54809	broad.mit.edu	37	7	92732470	92732470	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:92732470C>A	uc003umf.2	-	c.2941G>T	c.(2941-2943)GTA>TTA	p.V981L	SAMD9_uc003umg.2_Missense_Mutation_p.V981L	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	981						cytoplasm				ovary(3)|breast(1)|central_nervous_system(1)	5	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)											0.211823	102.102476	117.696908	43	160	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92732470	92732470	14306	7	C	A	A	A	260	20	SAMD9	2	2
CALCR	799	broad.mit.edu	37	7	93090242	93090242	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:93090242C>G	uc003umv.1	-	c.641G>C	c.(640-642)AGG>ACG	p.R214T	CALCR_uc011kia.1_5'UTR|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003umu.1_Missense_Mutation_p.R180T|CALCR_uc003umw.2_Missense_Mutation_p.R180T	NM_001742	NP_001733	P30988	CALCR_HUMAN	calcitonin receptor isoform 2 precursor	196	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding			ovary(3)|lung(1)|pancreas(1)	5	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)									0.111524	35.74319	75.881748	30	239	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93090242	93090242	2695	7	C	G	G	G	312	24	CALCR	3	3
SPAG1	6674	broad.mit.edu	37	8	101178126	101178126	+	Silent	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:101178126G>A	uc003yjh.1	+	c.225G>A	c.(223-225)TTG>TTA	p.L75L	SPAG1_uc003yjg.1_Silent_p.L75L|SPAG1_uc003yji.1_Silent_p.L75L	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	sperm associated antigen 1	75					single fertilization	cytoplasm	GTP binding|hydrolase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)										0.128205	16.139851	31.909781	15	102	KEEP	---	---	---	---	capture		Silent	SNP	101178126	101178126	15478	8	G	A	A	A	581	45	SPAG1	2	2
BAALC	79870	broad.mit.edu	37	8	104225192	104225192	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:104225192C>A	uc003yld.2	+	c.206C>A	c.(205-207)ACA>AAA	p.T69K	BAALC_uc003yle.2_Intron|BAALC_uc003ylg.2_Missense_Mutation_p.T15K|BAALC_uc010mcc.2_5'Flank	NM_024812	NP_079088	Q8WXS3	BAALC_HUMAN	brain and acute leukemia, cytoplasmic isoform 1	104						centrosome|membrane|nucleus					0			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)											0.178439	105.304794	131.540027	48	221	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104225192	104225192	1300	8	C	A	A	A	221	17	BAALC	2	2
RP1L1	94137	broad.mit.edu	37	8	10473975	10473976	+	Missense_Mutation	DNP	CA	AG	AG			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10473975_10473976CA>AG	uc003wtc.2	-	c.731_732TG>CT	c.(730-732)CTG>CCT	p.L244P		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	244					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)										0.225352	38.459864	43.381697	16	55	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	10473975	10473976	14012	8	CA	AG	AG	AG	366	29	RP1L1	2	2
ZFPM2	23414	broad.mit.edu	37	8	106801053	106801053	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:106801053C>T	uc003ymd.2	+	c.640C>T	c.(640-642)CTC>TTC	p.L214F	ZFPM2_uc011lhs.1_5'UTR	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	214					blood coagulation|transcription, DNA-dependent	nucleoplasm	DNA binding|RNA polymerase II transcription factor activity|transcription corepressor activity|transcription repressor activity|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)											0.104167	10.073008	25.044003	10	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106801053	106801053	18248	8	C	T	T	T	416	32	ZFPM2	2	2
RSPO2	340419	broad.mit.edu	37	8	108972928	108972928	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:108972928G>T	uc003yms.2	-	c.401C>A	c.(400-402)CCA>CAA	p.P134Q	RSPO2_uc003ymq.2_Missense_Mutation_p.P67Q|RSPO2_uc003ymr.2_Missense_Mutation_p.P71Q	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	R-spondin family, member 2 precursor	134	FU.				Wnt receptor signaling pathway	extracellular region	heparin binding			ovary(2)|skin(2)|pancreas(1)|lung(1)	6			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)											0.349398	80.745598	82.408717	29	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108972928	108972928	14190	8	G	T	T	T	611	47	RSPO2	2	2
PKHD1L1	93035	broad.mit.edu	37	8	110432808	110432808	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110432808G>C	uc003yne.2	+	c.2586G>C	c.(2584-2586)CAG>CAC	p.Q862H		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	862	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)											0.107527	12.879948	27.088679	10	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110432808	110432808	12397	8	G	C	C	C	451	35	PKHD1L1	3	3
KCNV1	27012	broad.mit.edu	37	8	110984554	110984554	+	Silent	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110984554C>A	uc003ynr.3	-	c.924G>T	c.(922-924)GGG>GGT	p.G308G	KCNV1_uc010mcw.2_Silent_p.G308G	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	308	Extracellular (Potential).					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)											0.541667	152.896875	153.04108	52	44	KEEP	---	---	---	---	capture		Silent	SNP	110984554	110984554	8399	8	C	A	A	A	327	26	KCNV1	2	2
CSMD3	114788	broad.mit.edu	37	8	113420618	113420618	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113420618C>A	uc003ynu.2	-	c.5534G>T	c.(5533-5535)GGT>GTT	p.G1845V	CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Missense_Mutation_p.G1805V|CSMD3_uc011lhx.1_Missense_Mutation_p.G1741V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1845	Extracellular (Potential).|CUB 10.					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.139785	19.81323	31.467631	13	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113420618	113420618	4087	8	C	A	A	A	234	18	CSMD3	2	2
COL14A1	7373	broad.mit.edu	37	8	121209165	121209165	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:121209165G>T	uc003yox.2	+	c.572G>T	c.(571-573)GGC>GTC	p.G191V	COL14A1_uc003yoy.2_5'UTR|COL14A1_uc010mde.1_5'UTR	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	191	VWFA 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)							1131				0.274576	202.635127	216.147499	81	214	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121209165	121209165	3809	8	G	T	T	T	546	42	COL14A1	2	2
COL14A1	7373	broad.mit.edu	37	8	121216051	121216051	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:121216051G>T	uc003yox.2	+	c.981G>T	c.(979-981)GTG>GTT	p.V327V	COL14A1_uc003yoy.2_Silent_p.V5V|COL14A1_uc010mde.1_Silent_p.V5V	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	327	VWFA 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)							1131				0.384615	86.128867	87.04023	30	48	KEEP	---	---	---	---	capture		Silent	SNP	121216051	121216051	3809	8	G	T	T	T	600	47	COL14A1	2	2
WDR67	93594	broad.mit.edu	37	8	124132400	124132400	+	Silent	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:124132400C>T	uc003ypp.1	+	c.1542C>T	c.(1540-1542)ATC>ATT	p.I514I	WDR67_uc011lig.1_Silent_p.I514I|WDR67_uc011lih.1_Silent_p.I404I|WDR67_uc003ypq.1_Non-coding_Transcript|WDR67_uc003yps.1_Silent_p.I227I	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	514	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)											0.5	20.049873	20.049873	6	6	KEEP	---	---	---	---	capture		Silent	SNP	124132400	124132400	17891	8	C	T	T	T	408	32	WDR67	2	2
TRMT12	55039	broad.mit.edu	37	8	125463762	125463762	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:125463762G>T	uc003yra.3	+	c.594G>T	c.(592-594)TGG>TGT	p.W198C		NM_017956	NP_060426	Q53H54	TYW2_HUMAN	homolog of yeast tRNA methyltransferase 12	198					tRNA processing		methyltransferase activity			upper_aerodigestive_tract(1)	1	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)											0.217054	55.360829	64.869701	28	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125463762	125463762	17114	8	G	T	T	T	559	43	TRMT12	2	2
LY6K	54742	broad.mit.edu	37	8	143782017	143782017	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:143782017A>T	uc011ljv.1	+	c.72A>T	c.(70-72)AGA>AGT	p.R24S	LY6K_uc011ljw.1_Missense_Mutation_p.R24S|LY6K_uc011ljx.1_Missense_Mutation_p.R24S	NM_017527	NP_059997	Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K isoform 1	24						anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane				central_nervous_system(1)	1	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)													0.411765	17.71988	17.835779	7	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143782017	143782017	9475	8	A	T	T	T	128	10	LY6K	3	3
CYP11B2	1585	broad.mit.edu	37	8	143994820	143994820	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:143994820G>T	uc003yxk.1	-	c.1002C>A	c.(1000-1002)CCC>CCA	p.P334P		NM_000498	NP_000489	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B,	334					aldosterone biosynthetic process|oxidation-reduction process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|renal water homeostasis|sodium ion homeostasis|xenobiotic metabolic process	mitochondrial inner membrane	corticosterone 18-monooxygenase activity|electron carrier activity|heme binding|steroid 11-beta-monooxygenase activity				0	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)									0.55102	161.9459	162.167343	54	44	KEEP	---	---	---	---	capture		Silent	SNP	143994820	143994820	4311	8	G	T	T	T	496	39	CYP11B2	1	1
CYP11B2	1585	broad.mit.edu	37	8	143995724	143995725	+	Missense_Mutation	DNP	TG	AT	AT			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:143995724_143995725TG>AT	uc003yxk.1	-	c.909_910CA>AT	c.(907-912)GCCATC>GCATTC	p.I304F		NM_000498	NP_000489	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B,	304					aldosterone biosynthetic process|oxidation-reduction process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|renal water homeostasis|sodium ion homeostasis|xenobiotic metabolic process	mitochondrial inner membrane	corticosterone 18-monooxygenase activity|electron carrier activity|heme binding|steroid 11-beta-monooxygenase activity				0	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)									0.341176	77.753655	79.646242	29	56	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	143995724	143995725	4311	8	TG	AT	AT	AT	663	51	CYP11B2	3	3
SPATC1	375686	broad.mit.edu	37	8	145095317	145095317	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:145095317C>A	uc011lkw.1	+	c.719C>A	c.(718-720)ACT>AAT	p.T240N	SPATC1_uc011lkx.1_Missense_Mutation_p.T240N	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	240										ovary(1)|central_nervous_system(1)	2	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)											0.711111	99.711623	101.508062	32	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145095317	145095317	15527	8	C	A	A	A	260	20	SPATC1	2	2
SORBS3	10174	broad.mit.edu	37	8	22429318	22429318	+	Nonsense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:22429318C>T	uc003xbv.2	+	c.1831C>T	c.(1831-1833)CAG>TAG	p.Q611*	SORBS3_uc003xbw.3_Nonsense_Mutation_p.Q269*	NM_005775	NP_005766	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3 isoform 1	611					muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding				0		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)										0.138462	11.126798	19.347153	9	56	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	22429318	22429318	15429	8	C	T	T	T	377	29	SORBS3	5	2
ADAM28	10863	broad.mit.edu	37	8	24193068	24193068	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:24193068G>T	uc003xdy.2	+	c.1481G>T	c.(1480-1482)GGC>GTC	p.G494V	ADAM28_uc003xdx.2_Missense_Mutation_p.G494V|ADAM28_uc011kzz.1_Missense_Mutation_p.G261V|ADAM28_uc011laa.1_Non-coding_Transcript|ADAM28_uc010lua.2_Missense_Mutation_p.G181V	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28 isoform 1	494	Extracellular (Potential).|Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(2)|lung(1)|central_nervous_system(1)	4		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		NSCLC(193;488 2149 22258 34798 40734)				410				0.309524	34.55749	35.91627	13	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24193068	24193068	247	8	G	T	T	T	546	42	ADAM28	2	2
PPP2R2A	5520	broad.mit.edu	37	8	26212038	26212038	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:26212038A>G	uc011laf.1	+	c.265A>G	c.(265-267)AGC>GGC	p.S89G	PPP2R2A_uc003xek.2_Intron|PPP2R2A_uc003xeu.2_Missense_Mutation_p.S79G	NM_002717	NP_002708	P63151	2ABA_HUMAN	alpha isoform of regulatory subunit B55, protein	79					protein dephosphorylation|signal transduction	protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			ovary(1)|kidney(1)	2		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)						58				0.117647	23.676372	40.764897	14	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26212038	26212038	12820	8	A	G	G	G	143	11	PPP2R2A	4	4
INTS9	55756	broad.mit.edu	37	8	28654167	28654167	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:28654167C>T	uc003xha.2	-	c.750G>A	c.(748-750)ATG>ATA	p.M250I	INTS9_uc011lav.1_Missense_Mutation_p.M226I|INTS9_uc011law.1_Missense_Mutation_p.M229I|INTS9_uc011lax.1_Missense_Mutation_p.M143I|INTS9_uc010lvc.2_Non-coding_Transcript|INTS9_uc003xhb.2_Missense_Mutation_p.M250I	NM_018250	NP_060720	Q9NV88	INT9_HUMAN	integrator complex subunit 9 isoform 1	250					snRNA processing	integrator complex	protein binding			central_nervous_system(1)|pancreas(1)	2		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)										0.137255	10.687813	17.183828	7	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28654167	28654167	8086	8	C	T	T	T	273	21	INTS9	2	2
FGFR1	2260	broad.mit.edu	37	8	38272335	38272335	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:38272335C>T	uc003xlp.2	-	c.1939G>A	c.(1939-1941)GAC>AAC	p.D647N	FGFR1_uc010lwf.2_Non-coding_Transcript|FGFR1_uc011lbo.1_Missense_Mutation_p.D645N|FGFR1_uc011lbp.1_Missense_Mutation_p.D558N|FGFR1_uc011lbq.1_Missense_Mutation_p.D556N|FGFR1_uc010lwk.2_Missense_Mutation_p.D637N	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	647	Cytoplasmic (Potential).|Protein kinase.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|protein phosphorylation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity			lung(5)|central_nervous_system(5)|ovary(1)|breast(1)	12	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	Melanoma(146;1153 1840 21453 21841 43625)		1		244				0.116279	25.210171	56.382713	25	190	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38272335	38272335	6100	8	C	T	T	T	390	30	FGFR1	2	2
ADAM2	2515	broad.mit.edu	37	8	39624743	39624743	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:39624743A>T	uc003xnj.2	-	c.1240T>A	c.(1240-1242)TGT>AGT	p.C414S	ADAM2_uc003xnk.2_Missense_Mutation_p.C395S|ADAM2_uc011lck.1_Missense_Mutation_p.C414S|ADAM2_uc003xnl.2_Missense_Mutation_p.C288S	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein	414	Extracellular (Potential).|Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)										0.211382	118.653613	137.61506	52	194	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39624743	39624743	242	8	A	T	T	T	91	7	ADAM2	3	3
PXDNL	137902	broad.mit.edu	37	8	52384753	52384753	+	Missense_Mutation	SNP	T	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:52384753T>G	uc003xqu.3	-	c.806A>C	c.(805-807)CAC>CCC	p.H269P		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	269	Ig-like C2-type 1.				hydrogen peroxide catabolic process|oxidation-reduction process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)												0.117241	26.976759	47.86853	17	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52384753	52384753	13306	8	T	G	G	G	767	59	PXDNL	4	4
DNAJC5B	85479	broad.mit.edu	37	8	66989047	66989048	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:66989047_66989048CC>AA	uc003xvs.1	+	c.272_273CC>AA	c.(271-273)GCC>GAA	p.A91E	DNAJC5B_uc003xvt.1_Non-coding_Transcript	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	91					protein folding	membrane	heat shock protein binding|unfolded protein binding				0		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)											0.228426	102.767532	116.111517	45	152	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	66989047	66989048	4834	8	CC	AA	AA	AA	338	26	DNAJC5B	2	2
CPA6	57094	broad.mit.edu	37	8	68346330	68346330	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:68346330C>A	uc003xxq.3	-	c.984G>T	c.(982-984)CAG>CAT	p.Q328H	CPA6_uc003xxr.3_Intron	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6 isoform 1 precursor	328					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)											0.082927	-0.299475	35.976789	17	188	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68346330	68346330	3932	8	C	A	A	A	415	32	CPA6	2	2
ZFHX4	79776	broad.mit.edu	37	8	77764324	77764324	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77764324C>A	uc003yav.2	+	c.5032C>A	c.(5032-5034)CCT>ACT	p.P1678T	ZFHX4_uc003yau.1_Missense_Mutation_p.P1723T|ZFHX4_uc003yaw.1_Missense_Mutation_p.P1678T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1678	Gln-rich.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)											0.164634	42.211041	59.73856	27	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77764324	77764324	18223	8	C	A	A	A	390	30	ZFHX4	2	2
SLC7A13	157724	broad.mit.edu	37	8	87229801	87229801	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:87229801C>A	uc003ydq.1	-	c.1077G>T	c.(1075-1077)TTG>TTT	p.L359F	SLC7A13_uc003ydr.1_Missense_Mutation_p.L350F	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	solute carrier family 7, (cationic amino acid	359	Helical; Name=10; (Potential).					integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)	1														0.209677	26.235278	31.07725	13	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87229801	87229801	15192	8	C	A	A	A	376	29	SLC7A13	2	2
CNBD1	168975	broad.mit.edu	37	8	88365868	88365868	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:88365868G>T	uc003ydy.2	+	c.1157G>T	c.(1156-1158)AGA>ATA	p.R386I		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	386	cNMP.									ovary(3)	3														0.115385	8.312867	19.68563	9	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88365868	88365868	3729	8	G	T	T	T	429	33	CNBD1	2	2
CDH17	1015	broad.mit.edu	37	8	95164334	95164334	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:95164334C>G	uc003ygh.2	-	c.1558G>C	c.(1558-1560)GAT>CAT	p.D520H	CDH17_uc011lgo.1_Missense_Mutation_p.D306H|CDH17_uc011lgp.1_Missense_Mutation_p.D520H	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	520	Extracellular (Potential).|Cadherin 5.					integral to membrane	calcium ion binding			ovary(5)	5	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)											0.08642	11.714753	39.786298	14	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95164334	95164334	3231	8	C	G	G	G	377	29	CDH17	3	3
CDH17	1015	broad.mit.edu	37	8	95189928	95189928	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:95189928C>G	uc003ygh.2	-	c.172G>C	c.(172-174)GTG>CTG	p.V58L	CDH17_uc011lgo.1_Missense_Mutation_p.V58L|CDH17_uc011lgp.1_Missense_Mutation_p.V58L	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	58	Extracellular (Potential).|Cadherin 1.					integral to membrane	calcium ion binding			ovary(5)	5	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)											0.263158	109.361659	116.110049	35	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95189928	95189928	3231	8	C	G	G	G	221	17	CDH17	3	3
GRIN3A	116443	broad.mit.edu	37	9	104432860	104432860	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:104432860G>T	uc004bbp.1	-	c.1834C>A	c.(1834-1836)CAC>AAC	p.H612N	GRIN3A_uc004bbq.1_Missense_Mutation_p.H612N	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	612	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|central_nervous_system(1)|pancreas(1)	6		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)					27				0.515789	143.318738	143.33753	49	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104432860	104432860	7062	9	G	T	T	T	598	46	GRIN3A	2	2
CYLC2	1539	broad.mit.edu	37	9	105765459	105765459	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:105765459C>T	uc004bbs.2	+	c.94C>T	c.(94-96)CAC>TAC	p.H32Y		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	cylicin 2	32	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			skin(1)	1		all_hematologic(171;0.125)												0.180451	44.910387	57.688709	24	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105765459	105765459	4307	9	C	T	T	T	221	17	CYLC2	2	2
C9orf6	54942	broad.mit.edu	37	9	111701527	111701527	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:111701527G>C	uc004bdn.2	+	c.313G>C	c.(313-315)GAT>CAT	p.D105H	C9orf6_uc010mtr.2_Non-coding_Transcript	NM_017832	NP_060302	Q9NX38	CI006_HUMAN	hypothetical protein LOC54942	105					glycine catabolic process	glycine cleavage complex				pancreas(1)	1		Myeloproliferative disorder(63;0.0511)		OV - Ovarian serous cystadenocarcinoma(323;9.58e-07)										0.289474	75.119032	78.13777	22	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111701527	111701527	2604	9	G	C	C	C	429	33	C9orf6	3	3
TLR4	7099	broad.mit.edu	37	9	120476798	120476798	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:120476798G>T	uc004bjz.2	+	c.2392G>T	c.(2392-2394)GAG>TAG	p.E798*	TLR4_uc004bka.2_Nonsense_Mutation_p.E758*|TLR4_uc004bkb.2_Nonsense_Mutation_p.E598*	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	798	Cytoplasmic (Potential).|TIR.				activation of MAPK activity|cellular response to mechanical stimulus|defense response to Gram-negative bacterium|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of inflammatory response|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			ovary(4)	4										157				0.133721	26.702874	49.112345	23	149	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	120476798	120476798	16483	9	G	T	T	T	533	41	TLR4	5	2
PTGS1	5742	broad.mit.edu	37	9	125141116	125141116	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:125141116G>T	uc004bmg.1	+	c.415G>T	c.(415-417)GAG>TAG	p.E139*	PTGS1_uc011lys.1_Nonsense_Mutation_p.E114*|PTGS1_uc010mwb.1_Nonsense_Mutation_p.E30*|PTGS1_uc004bmf.1_Nonsense_Mutation_p.E139*|PTGS1_uc004bmh.1_Nonsense_Mutation_p.E30*|PTGS1_uc011lyt.1_Nonsense_Mutation_p.E30*	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	139					cyclooxygenase pathway|hormone biosynthetic process|oxidation-reduction process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			ovary(1)	1					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)									0.5	127.134332	127.134332	46	46	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	125141116	125141116	13210	9	G	T	T	T	533	41	PTGS1	5	2
GOLGA2	2801	broad.mit.edu	37	9	131020133	131020133	+	Silent	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:131020133C>G	uc011maw.1	-	c.2466G>C	c.(2464-2466)CTG>CTC	p.L822L	GOLGA2_uc010mxw.2_Silent_p.L145L|GOLGA2_uc004buh.2_Silent_p.L295L	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	822	Potential.					Golgi cisterna membrane	protein binding			ovary(1)	1														0.09062	51.86541	158.176781	57	572	KEEP	---	---	---	---	capture		Silent	SNP	131020133	131020133	6821	9	C	G	G	G	366	29	GOLGA2	3	3
PKN3	29941	broad.mit.edu	37	9	131479051	131479051	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:131479051G>C	uc004bvw.2	+	c.1834G>C	c.(1834-1836)GAG>CAG	p.E612Q	PKN3_uc010myh.2_Missense_Mutation_p.E612Q|PKN3_uc011mbk.1_Missense_Mutation_p.E162Q	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	protein kinase PKNbeta	612	Protein kinase.				protein phosphorylation|signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			lung(2)	2										307				0.112245	34.905697	64.007559	22	174	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131479051	131479051	12406	9	G	C	C	C	533	41	PKN3	3	3
LAMC3	10319	broad.mit.edu	37	9	133967067	133967067	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:133967067C>A	uc004caa.1	+	c.4621C>A	c.(4621-4623)CTG>ATG	p.L1541M	LAMC3_uc010mze.1_Missense_Mutation_p.L229M	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	1541	Domain II and I.|Potential.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)										0.578947	33.125793	33.228731	11	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133967067	133967067	8939	9	C	A	A	A	363	28	LAMC3	2	2
CEL	1056	broad.mit.edu	37	9	135940545	135940545	+	Silent	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:135940545C>T	uc010naa.1	+	c.468C>T	c.(466-468)CGC>CGT	p.R156R		NM_001807	NP_001798	P19835	CEL_HUMAN	carboxyl ester lipase precursor	153					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification|regulation of synaptic transmission|triglyceride metabolic process		acylglycerol lipase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)										0.178841	124.002027	162.54133	71	326	KEEP	---	---	---	---	capture		Silent	SNP	135940545	135940545	3342	9	C	T	T	T	340	27	CEL	1	1
SURF6	6838	broad.mit.edu	37	9	136198874	136198874	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:136198874C>T	uc004cdb.3	-	c.917G>A	c.(916-918)CGG>CAG	p.R306Q		NM_006753	NP_006744	O75683	SURF6_HUMAN	surfeit 6	306						granular component	DNA binding|RNA binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)										0.272727	24.065554	25.598719	9	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136198874	136198874	15926	9	C	T	T	T	299	23	SURF6	1	1
FCN1	2219	broad.mit.edu	37	9	137801797	137801797	+	Silent	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:137801797T>A	uc004cfi.2	-	c.828A>T	c.(826-828)GGA>GGT	p.G276G		NM_002003	NP_001994	O00602	FCN1_HUMAN	ficolin 1 precursor	276	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			large_intestine(1)|ovary(1)	2		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)										0.098291	6.258153	44.065149	23	211	KEEP	---	---	---	---	capture		Silent	SNP	137801797	137801797	6028	9	T	A	A	A	691	54	FCN1	3	3
ANAPC2	29882	broad.mit.edu	37	9	140075363	140075364	+	Missense_Mutation	DNP	CG	AA	AA			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:140075363_140075364CG>AA	uc004clr.1	-	c.1486_1487CG>TT	c.(1486-1488)CGG>TTG	p.R496L	ANAPC2_uc004clq.1_Missense_Mutation_p.R352L	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	anaphase-promoting complex subunit 2	496					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			ovary(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)										0.621622	197.446978	198.892968	69	42	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	140075363	140075364	606	9	CG	AA	AA	AA	299	23	ANAPC2	1	1
FREM1	158326	broad.mit.edu	37	9	14797585	14797585	+	Silent	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:14797585T>A	uc003zlm.2	-	c.3750A>T	c.(3748-3750)ACA>ACT	p.T1250T	FREM1_uc010mic.2_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	1250	CSPG 8.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)										0.555556	188.105172	188.394887	60	48	KEEP	---	---	---	---	capture		Silent	SNP	14797585	14797585	6291	9	T	A	A	A	808	63	FREM1	3	3
IFNB1	3456	broad.mit.edu	37	9	21077760	21077760	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:21077760G>T	uc003zok.2	-	c.109C>A	c.(109-111)CAG>AAG	p.Q37K		NM_002176	NP_002167	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast precursor	37					activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of innate immune response|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity			ovary(1)|breast(1)|kidney(1)	3				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)					45				0.573333	130.328805	130.679525	43	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21077760	21077760	7847	9	G	T	T	T	585	45	IFNB1	2	2
NOL6	65083	broad.mit.edu	37	9	33468330	33468330	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:33468330T>A	uc003zsz.2	-	c.1297A>T	c.(1297-1299)ACT>TCT	p.T433S	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zta.2_Missense_Mutation_p.T433S|NOL6_uc010mjv.2_Missense_Mutation_p.T430S|NOL6_uc011lob.1_Missense_Mutation_p.T373S|NOL6_uc003ztb.1_Missense_Mutation_p.T433S	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	433					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)										0.12069	8.615823	16.770432	7	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33468330	33468330	10928	9	T	A	A	A	741	57	NOL6	3	3
CBWD6	644019	broad.mit.edu	37	9	69205514	69205514	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:69205514C>T	uc004afj.3	-	c.1024G>A	c.(1024-1026)GAG>AAG	p.E342K	CBWD6_uc004afk.3_Non-coding_Transcript|CBWD6_uc011lrf.1_Non-coding_Transcript	NM_001085457	NP_001078926	Q4V339	CBWD6_HUMAN	COBW domain containing 6	342	CobW C-terminal.						ATP binding				0														0.23622	72.179959	80.262704	30	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69205514	69205514	2835	9	C	T	T	T	390	30	CBWD6	2	2
SMC5	23137	broad.mit.edu	37	9	72965329	72965329	+	Missense_Mutation	SNP	T	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:72965329T>G	uc004ahr.2	+	c.3107T>G	c.(3106-3108)ATG>AGG	p.M1036R	SMC5_uc011lry.1_Missense_Mutation_p.M181R	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	SMC5 protein	1036					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3														0.095745	9.806103	25.211969	9	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72965329	72965329	15284	9	T	G	G	G	663	51	SMC5	4	4
RORB	6096	broad.mit.edu	37	9	77257434	77257434	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:77257434G>T	uc004aji.2	+	c.373G>T	c.(373-375)GAG>TAG	p.E125*	RORB_uc004ajh.2_Nonsense_Mutation_p.E114*	NM_006914	NP_008845	Q92753	RORB_HUMAN	RAR-related orphan receptor B	125	Hinge (Potential).				eye photoreceptor cell development|positive regulation of gene-specific transcription|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(2)|lung(1)	3														0.536585	57.308619	57.353211	22	19	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	77257434	77257434	14008	9	G	T	T	T	533	41	RORB	5	2
TRPM6	140803	broad.mit.edu	37	9	77376931	77376931	+	Silent	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:77376931C>T	uc004ajl.1	-	c.4656G>A	c.(4654-4656)AAG>AAA	p.K1552K	TRPM6_uc004ajk.1_Silent_p.K1547K|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Silent_p.K508K	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1552	Cytoplasmic (Potential).				protein phosphorylation|response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(1)	4										879				0.215385	30.809848	35.674039	14	51	KEEP	---	---	---	---	capture		Silent	SNP	77376931	77376931	17141	9	C	T	T	T	415	32	TRPM6	2	2
GCNT1	2650	broad.mit.edu	37	9	79118035	79118035	+	Silent	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:79118035G>A	uc010mpf.2	+	c.738G>A	c.(736-738)AGG>AGA	p.R246R	GCNT1_uc010mpg.2_Silent_p.R246R|GCNT1_uc010mph.2_Silent_p.R246R|GCNT1_uc004akf.3_Silent_p.R246R|GCNT1_uc010mpi.2_Silent_p.R246R|GCNT1_uc004akh.3_Silent_p.R246R	NM_001490	NP_001481	Q02742	GCNT1_HUMAN	beta-1,3-galactosyl-O-glycosyl-glycoprotein	246	Lumenal (Potential).|Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity				0														0.138298	18.706309	30.603393	13	81	KEEP	---	---	---	---	capture		Silent	SNP	79118035	79118035	6566	9	G	A	A	A	529	41	GCNT1	2	2
PRUNE2	158471	broad.mit.edu	37	9	79465437	79465437	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:79465437G>C	uc010mpk.2	-	c.286C>G	c.(286-288)CAG>GAG	p.Q96E	PRUNE2_uc004akn.2_Missense_Mutation_p.Q96E	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	96					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0														0.576087	395.376174	396.304322	106	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79465437	79465437	13092	9	G	C	C	C	585	45	PRUNE2	3	3
FLJ46321	389763	broad.mit.edu	37	9	84607685	84607685	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:84607685A>G	uc004amn.2	+	c.2300A>G	c.(2299-2301)GAG>GGG	p.E767G		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	767						integral to membrane					0														0.512821	144.2108	144.222416	40	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84607685	84607685	6174	9	A	G	G	G	143	11	FLJ46321	4	4
SLC28A3	64078	broad.mit.edu	37	9	86912205	86912205	+	Silent	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:86912205C>T	uc010mpz.2	-	c.792G>A	c.(790-792)CTG>CTA	p.L264L	SLC28A3_uc011lsy.1_Silent_p.L195L|SLC28A3_uc004anu.1_Silent_p.L264L|SLC28A3_uc010mqb.2_Silent_p.L195L	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN	concentrative Na+-nucleoside cotransporter	264	Extracellular (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			ovary(1)|pancreas(1)	2						Ovarian(106;425 1539 34835 42413 43572)								0.119403	9.34759	18.878953	8	59	KEEP	---	---	---	---	capture		Silent	SNP	86912205	86912205	15030	9	C	T	T	T	262	21	SLC28A3	2	2
C9orf170	401535	broad.mit.edu	37	9	89771610	89771610	+	Silent	SNP	T	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:89771610T>C	uc004apa.1	+	c.291T>C	c.(289-291)ACT>ACC	p.T97T		NM_001001709	NP_001001709	A2RU37	CI170_HUMAN	hypothetical protein LOC401535	97											0														0.150685	25.175857	33.711482	11	62	KEEP	---	---	---	---	capture		Silent	SNP	89771610	89771610	2584	9	T	C	C	C	691	54	C9orf170	4	4
SUSD3	203328	broad.mit.edu	37	9	95841860	95841860	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:95841860C>T	uc004atb.2	+	c.533C>T	c.(532-534)GCG>GTG	p.A178V	SUSD3_uc004atc.2_Missense_Mutation_p.A165V	NM_145006	NP_659443	Q96L08	SUSD3_HUMAN	sushi domain containing 3	178	Cytoplasmic (Potential).					integral to membrane				breast(2)|skin(2)|ovary(1)|lung(1)	6														0.276596	31.156821	33.26731	13	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95841860	95841860	15929	9	C	T	T	T	351	27	SUSD3	1	1
GPRASP2	114928	broad.mit.edu	37	X	101969999	101969999	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:101969999G>C	uc004ejk.2	+	c.202G>C	c.(202-204)GCA>CCA	p.A68P	GPRASP2_uc004ejl.2_Missense_Mutation_p.A68P|GPRASP2_uc004ejm.2_Missense_Mutation_p.A68P|GPRASP2_uc011mrp.1_5'Flank	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	68						cytoplasm	protein binding			ovary(1)	1														0.375	226.408785	228.822562	66	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101969999	101969999	6999	23	G	C	C	C	442	34	GPRASP2	3	3
UBE2A	7319	broad.mit.edu	37	X	118716549	118716549	+	Splice_Site_SNP	SNP	A	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:118716549A>T	uc004erl.2	+	c.242_splice	c.e5-2	p.V81_splice	UBE2A_uc004erm.2_Splice_Site_SNP_p.V51_splice|UBE2A_uc004ern.2_Splice_Site_SNP|UBE2A_uc004ero.2_Splice_Site_SNP|UBE2A_uc004erp.2_Splice_Site_SNP_p.V6_splice	NM_003336	NP_003327			ubiquitin-conjugating enzyme E2A isoform 1						histone H2A ubiquitination|positive regulation of cell proliferation|post-translational protein modification|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity				0														0.298701	60.898268	63.685098	23	54	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	118716549	118716549	17401	23	A	T	T	T	195	15	UBE2A	5	3
ODZ1	10178	broad.mit.edu	37	X	123517813	123517813	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:123517813G>A	uc010nqy.2	-	c.6968C>T	c.(6967-6969)GCC>GTC	p.A2323V	ODZ1_uc011muj.1_Missense_Mutation_p.A2322V|ODZ1_uc004euj.2_Missense_Mutation_p.A2316V	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 1	2316	Extracellular (Potential).|YD 23.				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									p.A2316V(SNU1040-Tumor)	623				0.330357	96.612977	99.482025	37	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123517813	123517813	11239	23	G	A	A	A	546	42	ODZ1	2	2
TLR7	51284	broad.mit.edu	37	X	12904107	12904107	+	Silent	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:12904107C>T	uc004cvc.2	+	c.480C>T	c.(478-480)ATC>ATT	p.I160I		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	toll-like receptor 7 precursor	160	LRR 5.|Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of inflammatory response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			ovary(1)	1					Imiquimod(DB00724)					69				0.27551	75.279419	79.728288	27	71	KEEP	---	---	---	---	capture		Silent	SNP	12904107	12904107	16486	23	C	T	T	T	408	32	TLR7	2	2
SLC9A6	10479	broad.mit.edu	37	X	135084373	135084373	+	Splice_Site_SNP	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135084373G>T	uc004ezk.2	+	c.899_splice	c.e6+1	p.S300_splice	SLC9A6_uc004ezj.2_Splice_Site_SNP_p.S268_splice|SLC9A6_uc011mvx.1_Splice_Site_SNP_p.S248_splice	NM_001042537	NP_001036002			solute carrier family 9 (sodium/hydrogen						regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)													0.295597	139.060968	145.004301	47	112	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	135084373	135084373	15215	23	G	T	T	T	520	40	SLC9A6	5	1
ARHGEF6	9459	broad.mit.edu	37	X	135825841	135825841	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135825841G>T	uc004fab.2	-	c.564C>A	c.(562-564)TAC>TAA	p.Y188*	ARHGEF6_uc011mwd.1_Nonsense_Mutation_p.Y34*|ARHGEF6_uc011mwe.1_Nonsense_Mutation_p.Y34*	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor 6	188	SH3.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0	Acute lymphoblastic leukemia(192;0.000127)													0.325843	176.391722	181.179938	58	120	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	135825841	135825841	925	23	G	T	T	T	516	40	ARHGEF6	5	1
SLITRK4	139065	broad.mit.edu	37	X	142718399	142718399	+	Nonsense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:142718399G>A	uc004fbx.2	-	c.526C>T	c.(526-528)CGA>TGA	p.R176*	SLITRK4_uc004fby.2_Nonsense_Mutation_p.R176*	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	slit and trk like 4 protein precursor	176	Extracellular (Potential).|LRR 5.					integral to membrane				upper_aerodigestive_tract(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.171171	37.260599	48.605952	19	92	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	142718399	142718399	15243	23	G	A	A	A	506	39	SLITRK4	5	1
AFF2	2334	broad.mit.edu	37	X	147919180	147919180	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:147919180C>A	uc004fcp.2	+	c.1096C>A	c.(1096-1098)CAT>AAT	p.H366N	AFF2_uc004fco.2_Intron|AFF2_uc004fcq.2_Missense_Mutation_p.H362N|AFF2_uc004fcr.2_Intron|AFF2_uc011mxb.1_Intron|AFF2_uc004fcs.2_Intron|AFF2_uc011mxc.1_Intron	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	366					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)													0.214286	19.753367	22.91871	9	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147919180	147919180	358	23	C	A	A	A	273	21	AFF2	2	2
PLXNB3	5365	broad.mit.edu	37	X	153039513	153039513	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153039513G>T	uc010nuk.2	+	c.3548G>T	c.(3547-3549)CGC>CTC	p.R1183L	PLXNB3_uc004fii.2_Missense_Mutation_p.R1160L|PLXNB3_uc011mzd.1_Missense_Mutation_p.R799L|PLXNB3_uc004fij.1_5'Flank|SRPK3_uc004fik.2_5'Flank	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 2	1160	IPT/TIG 4.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)													0.375	15.953688	16.170001	6	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153039513	153039513	12551	23	G	T	T	T	494	38	PLXNB3	1	1
GRPR	2925	broad.mit.edu	37	X	16170416	16170416	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:16170416T>A	uc004cxj.2	+	c.803T>A	c.(802-804)GTG>GAG	p.V268E		NM_005314	NP_005305	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	268	Helical; Name=6; (Potential).				cell proliferation	integral to plasma membrane	bombesin receptor activity			ovary(3)	3	Hepatocellular(33;0.183)													0.312057	113.52406	117.974001	44	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16170416	16170416	7087	23	T	A	A	A	767	59	GRPR	3	3
BEND2	139105	broad.mit.edu	37	X	18192350	18192350	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:18192350G>A	uc004cyj.3	-	c.1781C>T	c.(1780-1782)ACC>ATC	p.T594I	BEND2_uc010nfb.2_Missense_Mutation_p.T503I	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	594										ovary(3)|kidney(1)|central_nervous_system(1)	5														0.103448	8.408378	26.577995	12	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18192350	18192350	1421	23	G	A	A	A	572	44	BEND2	2	2
MXRA5	25878	broad.mit.edu	37	X	3248372	3248372	+	Silent	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:3248372C>A	uc004crg.3	-	c.396G>T	c.(394-396)CTG>CTT	p.L132L		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	132	LRR 4.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(23;0.00031)|Lung NSC(23;0.000946)												0.205882	14.304368	17.033369	7	27	KEEP	---	---	---	---	capture		Silent	SNP	3248372	3248372	10397	23	C	A	A	A	314	25	MXRA5	2	2
DMD	1756	broad.mit.edu	37	X	32662374	32662374	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:32662374C>A	uc004dda.1	-	c.1206G>T	c.(1204-1206)TTG>TTT	p.L402F	DMD_uc004dcz.2_Missense_Mutation_p.L279F|DMD_uc004dcy.1_Missense_Mutation_p.L398F|DMD_uc004ddb.1_Missense_Mutation_p.L394F|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.L394F|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron|MIR548F5_hsa-mir-548f-5|MI0006378_5'Flank	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	402	Spectrin 1.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)												0.277108	59.084648	62.798592	23	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32662374	32662374	4760	23	C	A	A	A	272	21	DMD	2	2
FAM47B	170062	broad.mit.edu	37	X	34961437	34961437	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:34961437G>T	uc004ddi.1	+	c.489G>T	c.(487-489)TGG>TGT	p.W163C		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	163										ovary(3)|breast(1)	4														0.172414	8.75669	11.697808	5	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34961437	34961437	5791	23	G	T	T	T	559	43	FAM47B	2	2
FAM47C	442444	broad.mit.edu	37	X	37027551	37027551	+	Silent	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:37027551G>A	uc004ddl.1	+	c.1068G>A	c.(1066-1068)CCG>CCA	p.P356P		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	356										ovary(3)	3														0.161765	19.08078	26.483975	11	57	KEEP	---	---	---	---	capture		Silent	SNP	37027551	37027551	5792	23	G	A	A	A	496	39	FAM47C	1	1
WDR13	64743	broad.mit.edu	37	X	48458941	48458941	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:48458941G>T	uc004dkh.1	+	c.758G>T	c.(757-759)CGA>CTA	p.R253L	WDR13_uc010nif.1_Missense_Mutation_p.R131L|WDR13_uc004dki.1_Missense_Mutation_p.R161L|WDR13_uc004dkj.1_Missense_Mutation_p.R253L|WDR13_uc004dkk.1_Missense_Mutation_p.R161L|WDR13_uc004dkl.3_Missense_Mutation_p.R161L|WDR13_uc011mme.1_Missense_Mutation_p.R131L	NM_017883	NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13 protein	253	WD 2.					cytoplasm|nucleus				ovary(2)	2														0.4	31.293119	31.55526	12	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48458941	48458941	17848	23	G	T	T	T	481	37	WDR13	1	1
PRICKLE3	4007	broad.mit.edu	37	X	49035627	49035627	+	Silent	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:49035627C>T	uc004dmy.1	-	c.537G>A	c.(535-537)GTG>GTA	p.V179V	PRICKLE3_uc011mmv.1_Silent_p.V111V|PRICKLE3_uc011mmw.1_Silent_p.V98V|PRICKLE3_uc011mmx.1_Silent_p.V141V|PRICKLE3_uc011mmy.1_Silent_p.V166V	NM_006150	NP_006141	O43900	PRIC3_HUMAN	LIM domain only 6	179	PET.						protein binding|zinc ion binding			breast(1)	1														0.25	11.864139	13.001331	5	15	KEEP	---	---	---	---	capture		Silent	SNP	49035627	49035627	12931	23	C	T	T	T	366	29	PRICKLE3	2	2
AKAP4	8852	broad.mit.edu	37	X	49957633	49957633	+	Silent	SNP	A	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:49957633A>G	uc004dow.1	-	c.1731T>C	c.(1729-1731)TAT>TAC	p.Y577Y	AKAP4_uc004dov.1_Silent_p.Y194Y|AKAP4_uc010njp.1_Silent_p.Y399Y|AKAP4_uc004dou.1_Silent_p.Y568Y	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	577					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)	7	Ovarian(276;0.236)									119				0.363636	99.086317	100.343135	28	49	KEEP	---	---	---	---	capture		Silent	SNP	49957633	49957633	456	23	A	G	G	G	206	16	AKAP4	4	4
HUWE1	10075	broad.mit.edu	37	X	53576030	53576030	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:53576030G>A	uc004dsp.2	-	c.9925C>T	c.(9925-9927)CGT>TGT	p.R3309C	HUWE1_uc004dsn.2_Missense_Mutation_p.R2117C	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	3309					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17														0.133333	8.347674	14.195767	6	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53576030	53576030	7761	23	G	A	A	A	494	38	HUWE1	1	1
TRO	7216	broad.mit.edu	37	X	54954144	54954144	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:54954144A>G	uc004dtq.2	+	c.1808A>G	c.(1807-1809)TAT>TGT	p.Y603C	TRO_uc004dts.2_Missense_Mutation_p.Y603C|TRO_uc004dtr.2_Missense_Mutation_p.Y603C|TRO_uc004dtt.2_Non-coding_Transcript|TRO_uc004dtu.2_Non-coding_Transcript|TRO_uc004dtv.2_Missense_Mutation_p.Y206C|TRO_uc011mok.1_Missense_Mutation_p.Y134C|TRO_uc004dtw.2_Missense_Mutation_p.Y206C|TRO_uc004dtx.2_De_novo_Start_OutOfFrame	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	603	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1														0.2	25.952484	29.71621	9	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54954144	54954144	17125	23	A	G	G	G	208	16	TRO	4	4
NLGN4X	57502	broad.mit.edu	37	X	5821357	5821357	+	Silent	SNP	C	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:5821357C>G	uc010ndi.2	-	c.1473G>C	c.(1471-1473)GTG>GTC	p.V491V	NLGN4X_uc004crp.2_Silent_p.V474V|NLGN4X_uc010ndh.2_Silent_p.V454V|NLGN4X_uc004crq.2_Silent_p.V454V|NLGN4X_uc004crr.2_Silent_p.V454V|NLGN4X_uc010ndj.2_Silent_p.V454V	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	454	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|regulation of synaptic transmission|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	carboxylesterase activity|chloride ion binding|neurexin binding|protein homodimerization activity			large_intestine(1)|skin(1)	2														0.346154	27.967803	28.510831	9	17	KEEP	---	---	---	---	capture		Silent	SNP	5821357	5821357	10867	23	C	G	G	G	262	21	NLGN4X	3	3
HEPH	9843	broad.mit.edu	37	X	65409587	65409587	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:65409587G>T	uc011moz.1	+	c.879G>T	c.(877-879)GTG>GTT	p.V293V	HEPH_uc004dwn.2_Silent_p.V293V|HEPH_uc004dwo.2_Silent_p.V23V|HEPH_uc010nkr.2_Silent_p.V293V|HEPH_uc011mpa.1_Silent_p.V293V	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	290	Extracellular (Potential).|Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|oxidation-reduction process|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9										386				0.258065	95.716247	103.946611	40	115	KEEP	---	---	---	---	capture		Silent	SNP	65409587	65409587	7337	23	G	T	T	T	600	47	HEPH	2	2
HEPH	9843	broad.mit.edu	37	X	65423337	65423337	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:65423337A>G	uc011moz.1	+	c.2218A>G	c.(2218-2220)ATC>GTC	p.I740V	HEPH_uc004dwn.2_Missense_Mutation_p.I740V|HEPH_uc004dwo.2_Missense_Mutation_p.I470V|HEPH_uc010nkr.2_Missense_Mutation_p.I548V|HEPH_uc011mpa.1_Missense_Mutation_p.I740V|HEPH_uc010nks.2_Missense_Mutation_p.I29V	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	737	Extracellular (Potential).|Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|oxidation-reduction process|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9										386				0.131148	16.36284	24.425251	8	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65423337	65423337	7337	23	A	G	G	G	208	16	HEPH	4	4
RAB41	347517	broad.mit.edu	37	X	69502146	69502146	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:69502146C>A	uc004dyc.2	+	c.79C>A	c.(79-81)CAG>AAG	p.Q27K	RAB41_uc010nkv.2_Missense_Mutation_p.Q17K	NM_001032726	NP_001027898	Q5JT25	RAB41_HUMAN	RAB41, member RAS oncogene family	27					protein transport|small GTPase mediated signal transduction		GTP binding			ovary(2)|breast(2)	4														0.185185	38.531654	48.575725	20	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69502146	69502146	13402	23	C	A	A	A	273	21	RAB41	2	2
MAGEE1	57692	broad.mit.edu	37	X	75649135	75649135	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:75649135C>T	uc004ecm.1	+	c.812C>T	c.(811-813)TCC>TTC	p.S271F		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	271	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6														0.285714	13.541577	14.407068	6	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75649135	75649135	9568	23	C	T	T	T	390	30	MAGEE1	2	2
POF1B	79983	broad.mit.edu	37	X	84563165	84563165	+	Silent	SNP	G	T	T			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:84563165G>T	uc004ees.2	-	c.1015C>A	c.(1015-1017)CGG>AGG	p.R339R	POF1B_uc004eer.2_Silent_p.R339R	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	339	Potential.						actin binding				0														0.169811	20.042419	25.50964	9	44	KEEP	---	---	---	---	capture		Silent	SNP	84563165	84563165	12610	23	G	T	T	T	519	40	POF1B	1	1
NAV3	89795	broad.mit.edu	37	12	78400636	78400636	+	Frame_Shift_Del	DEL	C	-	-			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:78400636_78400636delC	uc001syp.2	+	c.1318_1318delC	c.(1318-1320)CCCfs	p.P440fs	NAV3_uc001syo.2_Frame_Shift_Del_p.P440fs	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	440						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16										1091				0.33			58	120		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	78400636	78400636	10581	12	C	-	-	-	390	30	NAV3	5	5
FEZF2	55079	broad.mit.edu	37	3	62358243	62358243	+	Frame_Shift_Del	DEL	C	-	-			TCGA-05-4398-01	TCGA-05-4398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:62358243_62358243delC	uc003dlh.2	-	c.301_301delG	c.(301-303)GCGfs	p.A101fs	FEZF2_uc003dli.2_Frame_Shift_Del_p.A101fs	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	101					transcription, DNA-dependent	nucleus	zinc ion binding			lung(1)	1		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		NSCLC(170;1772 2053 12525 15604 23984)								0.46			11	13		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	62358243	62358243	6063	3	C	-	-	-	338	26	FEZF2	5	5
