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
GOT1	2805	broad.mit.edu	37	10	101163595	101163595	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:101163595G>C	uc001kpr.2	-	c.679C>G	c.(679-681)CAG>GAG	p.Q227E	GOT1_uc009xwh.2_Non-coding_Transcript|GOT1_uc001kpq.1_Intron	NM_002079	NP_002070	P17174	AATC_HUMAN	aspartate aminotransferase 1	227					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding				0		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	Melanoma(173;770 3544 21601)								0.27907	35.581845	37.469242	12	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101163595	101163595	6852	10	G	C	C	C	585	45	GOT1	3	3
PCGF6	84108	broad.mit.edu	37	10	105108755	105108755	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:105108755C>A	uc001kwt.2	-	c.362G>T	c.(361-363)CGC>CTC	p.R121L	PCGF6_uc001kwu.2_Missense_Mutation_p.R121L|PCGF6_uc009xxk.2_Non-coding_Transcript|PCGF6_uc009xxl.2_Non-coding_Transcript|PCGF6_uc009xxm.2_Non-coding_Transcript	NM_001011663	NP_001011663	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6 isoform a	121					negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)	1		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)										0.244898	34.285456	37.183283	12	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105108755	105108755	11998	10	C	A	A	A	351	27	PCGF6	1	1
KIAA1462	57608	broad.mit.edu	37	10	30316110	30316110	+	Silent	SNP	G	C	C			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:30316110G>C	uc009xle.1	-	c.2967C>G	c.(2965-2967)CCC>CCG	p.P989P	KIAA1462_uc001iux.2_Silent_p.P989P|KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Silent_p.P851P	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	989										ovary(4)	4														0.282443	88.114002	93.691274	37	94	KEEP	---	---	---	---	capture		Silent	SNP	30316110	30316110	8543	10	G	C	C	C	496	39	KIAA1462	3	3
PITRM1	10531	broad.mit.edu	37	10	3202411	3202411	+	Silent	SNP	T	G	G			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:3202411T>G	uc001igt.1	-	c.903A>C	c.(901-903)ACA>ACC	p.T301T	PITRM1_uc001igr.1_Silent_p.T301T|PITRM1_uc010qah.1_Silent_p.T269T|PITRM1_uc009xhv.1_5'Flank|PITRM1_uc001igu.1_Silent_p.T293T|PITRM1_uc010qai.1_Silent_p.T272T|PITRM1_uc001igw.1_Silent_p.T301T	NM_014889	NP_055704	Q5JRX3	PREP_HUMAN	metalloprotease 1 precursor	301					proteolysis	mitochondrial matrix|nucleus	enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			pancreas(1)	1														0.157895	4.314838	6.435422	3	16	KEEP	---	---	---	---	capture		Silent	SNP	3202411	3202411	12377	10	T	G	G	G	756	59	PITRM1	4	4
SLC18A3	6572	broad.mit.edu	37	10	50818879	50818879	+	Silent	SNP	G	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:50818879G>A	uc001jhw.2	+	c.93G>A	c.(91-93)CAG>CAA	p.Q31Q	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	31	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(1)	1														0.1875	7.115294	8.57843	3	13	KEEP	---	---	---	---	capture		Silent	SNP	50818879	50818879	14923	10	G	A	A	A	425	33	SLC18A3	2	2
PRKG1	5592	broad.mit.edu	37	10	54048708	54048708	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:54048708G>A	uc001jjo.2	+	c.1850G>A	c.(1849-1851)AGA>AAA	p.R617K	PRKG1_uc001jjm.2_Missense_Mutation_p.R602K|PRKG1_uc009xow.1_Missense_Mutation_p.R320K	NM_006258	NP_006249	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I isoform	602	Protein kinase.				actin cytoskeleton organization|platelet activation|protein phosphorylation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			lung(2)|ovary(1)|central_nervous_system(1)	4		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)						1247				0.211538	54.705527	62.709735	22	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54048708	54048708	12965	10	G	A	A	A	429	33	PRKG1	2	2
ANK3	288	broad.mit.edu	37	10	62038898	62038898	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:62038898C>G	uc001jky.2	-	c.225G>C	c.(223-225)TTG>TTC	p.L75F	ANK3_uc010qih.1_Missense_Mutation_p.L58F|ANK3_uc001jkz.3_Missense_Mutation_p.L69F|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	75	ANK 1.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			ovary(6)|pancreas(2)|central_nervous_system(1)|skin(1)	10														0.275362	52.0941	55.23455	19	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62038898	62038898	625	10	C	G	G	G	376	29	ANK3	3	3
OR8B8	26493	broad.mit.edu	37	11	124310358	124310358	+	Silent	SNP	A	C	C			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124310358A>C	uc010sal.1	-	c.624T>G	c.(622-624)GGT>GGG	p.G208G		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B,	208	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)										0.390244	53.198468	53.628442	16	25	KEEP	---	---	---	---	capture		Silent	SNP	124310358	124310358	11641	11	A	C	C	C	67	6	OR8B8	4	4
C11orf61	79684	broad.mit.edu	37	11	124637469	124637469	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124637469T>C	uc001qba.1	-	c.1283A>G	c.(1282-1284)GAA>GGA	p.E428G	C11orf61_uc001qaz.1_Missense_Mutation_p.E376G|C11orf61_uc010sap.1_Missense_Mutation_p.E148G|C11orf61_uc001qay.1_Missense_Mutation_p.E198G	NM_024631	NP_078907	Q6P1R3	CK061_HUMAN	hypothetical protein LOC79684	428											0	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0079)										0.141593	29.422577	43.424576	16	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124637469	124637469	1692	11	T	C	C	C	806	62	C11orf61	4	4
ETS1	2113	broad.mit.edu	37	11	128354828	128354828	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:128354828G>A	uc001qej.2	-	c.752C>T	c.(751-753)TCG>TTG	p.S251L	ETS1_uc010sbs.1_Missense_Mutation_p.S207L|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Missense_Mutation_p.S207L	NM_001143820	NP_001137292	P14921	ETS1_HUMAN	v-ets erythroblastosis virus E26 oncogene	207					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			lung(1)|central_nervous_system(1)|pleura(1)	3	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)										0.54717	96.379116	96.481709	29	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128354828	128354828	5468	11	G	A	A	A	481	37	ETS1	1	1
MAP3K11	4296	broad.mit.edu	37	11	65375408	65375408	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65375408C>A	uc001oew.2	-	c.1054G>T	c.(1054-1056)GCA>TCA	p.A352S	MAP3K11_uc001oev.2_5'Flank|MAP3K11_uc010rol.1_Missense_Mutation_p.A95S|MAP3K11_uc001oex.1_5'UTR	NM_002419	NP_002410	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase	352	Protein kinase.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|protein autophosphorylation|protein oligomerization	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|protein homodimerization activity			central_nervous_system(1)	1										130				0.619048	45.380285	45.641564	13	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65375408	65375408	9628	11	C	A	A	A	351	27	MAP3K11	1	1
BBS1	582	broad.mit.edu	37	11	66282099	66282099	+	Nonsense_Mutation	SNP	C	T	T			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66282099C>T	uc001oii.1	+	c.493C>T	c.(493-495)CAA>TAA	p.Q165*	BBS1_uc010rpf.1_Non-coding_Transcript|BBS1_uc010rpg.1_Nonsense_Mutation_p.Q128*|BBS1_uc001oij.1_Nonsense_Mutation_p.Q128*|BBS1_uc001oik.1_Nonsense_Mutation_p.Q52*|BBS1_uc001oil.1_Nonsense_Mutation_p.Q128*	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	128					photoreceptor cell maintenance|response to stimulus|retina homeostasis|sensory cilium assembly	BBSome|cilium membrane|cytoplasm	protein binding			ovary(1)	1						GBM(152;173 2612 9770 10137)								0.070588	-5.21001	10.978922	6	79	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	66282099	66282099	1356	11	C	T	T	T	273	21	BBS1	5	2
ME3	10873	broad.mit.edu	37	11	86267677	86267677	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:86267677C>A	uc001pbz.2	-	c.385G>T	c.(385-387)GTG>TTG	p.V129L	ME3_uc001pca.2_Missense_Mutation_p.V129L|ME3_uc009yvk.2_Missense_Mutation_p.V129L|ME3_uc010rtr.1_Non-coding_Transcript	NM_001014811	NP_001014811	Q16798	MAON_HUMAN	mitochondrial malic enzyme 3 precursor	129					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			ovary(1)	1		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)									0.358974	40.539377	41.264412	14	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86267677	86267677	9808	11	C	A	A	A	247	19	ME3	1	1
MYO1H	283446	broad.mit.edu	37	12	109872885	109872885	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:109872885G>A	uc010sxn.1	+	c.2059G>A	c.(2059-2061)GAA>AAA	p.E687K		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	myosin 1H	Error:Variant_position_missing_in_B4DNW6_after_alignment						myosin complex	motor activity				0														0.34375	34.71517	35.405332	11	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109872885	109872885	10470	12	G	A	A	A	481	37	MYO1H	1	1
NOS1	4842	broad.mit.edu	37	12	117672562	117672562	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:117672562G>A	uc001twm.1	-	c.3043C>T	c.(3043-3045)CGG>TGG	p.R1015W		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	1015	FAD-binding FR-type.				arginine catabolic process|multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|oxidation-reduction process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(2)|pancreas(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	Esophageal Squamous(162;1748 2599 51982 52956)								0.142857	4.338654	7.887168	4	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117672562	117672562	10944	12	G	A	A	A	480	37	NOS1	1	1
KNTC1	9735	broad.mit.edu	37	12	123087269	123087269	+	Missense_Mutation	SNP	A	C	C			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:123087269A>C	uc001ucv.2	+	c.4807A>C	c.(4807-4809)AAC>CAC	p.N1603H	KNTC1_uc010taf.1_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	1603					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)										0.162791	15.644334	20.254181	7	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123087269	123087269	8742	12	A	C	C	C	117	9	KNTC1	4	4
GUCY2C	2984	broad.mit.edu	37	12	14778702	14778702	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:14778702C>T	uc001rcd.2	-	c.2397G>A	c.(2395-2397)ATG>ATA	p.M799I		NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	799	Cytoplasmic (Potential).				intracellular signal transduction|protein phosphorylation|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(1)	5										889				0.240741	63.953703	70.543002	26	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14778702	14778702	7176	12	C	T	T	T	221	17	GUCY2C	2	2
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:25398285C>A	uc001rgp.1	-	c.34G>T	c.(34-36)GGT>TGT	p.G12C	KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(2374)|p.G12S(1078)|p.G12R(674)|p.G12?(50)|p.G12F(33)|p.G12D(15)|p.G12N(6)|p.G12V(6)|p.G12L(5)|p.G12I(3)|p.G12W(3)|p.G12A(2)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12_G13insG(1)		large_intestine(11742)|pancreas(3256)|lung(2694)|biliary_tract(514)|ovary(437)|endometrium(339)|haematopoietic_and_lymphoid_tissue(303)|stomach(179)|thyroid(145)|prostate(85)|soft_tissue(75)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|breast(27)|liver(21)|testis(17)|oesophagus(15)|central_nervous_system(8)|peritoneum(5)|kidney(5)|salivary_gland(5)|thymus(5)|eye(4)|gastrointestinal_tract_(site_indeterminate)(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	20148	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG)	119	p.G12R(PSN1-Tumor)|p.G12C(NCIH1373-Tumor)|p.G12C(NCIH1792-Tumor)|p.G12S(KMS20-Tumor)|p.G12C(HCC44-Tumor)|p.G12C(HCC1171-Tumor)|p.G12C(SW837-Tumor)|p.G12C(LU65-Tumor)|p.G12R(HUPT3-Tumor)|p.G12S(A549-Tumor)|p.G12C(NCIH2122-Tumor)|p.G12R(KP2-Tumor)|p.G12C(OV56-Tumor)|p.G12C(IALM-Tumor)|p.G12C(SW1463-Tumor)|p.G12C(SW1573-Tumor)|p.G12R(NCIH1339-Tumor)|p.G12C(NCIH23-Tumor)|p.G12C(MIAPACA2-Tumor)|p.G12C(CALU1-Tumor)|p.G12C(NCIH2030-Tumor)|p.G12S(LS123-Tumor)|p.G12C(KYSE410-Tumor)|p.G12C(UMUC3-Tumor)|p.G12C(NCIH2291-Tumor)|p.G12R(TCCPAN2-Tumor)|p.G12C(KHM1B-Tumor)|p.G12C(LU99-Tumor)|p.G12C(NCIH358-Tumor)|p.G12C(NCIH1385-Tumor)|p.G12R(CAL62-Tumor)	262	TSP Lung(1;<1E-8)|Multiple Myeloma(2;<1E-6)			0.263158	13.966364	14.930208	5	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25398285	25398285	8753	12	C	A	A	A	273	21	KRAS	2	2
C12orf11	55726	broad.mit.edu	37	12	27066581	27066581	+	Silent	SNP	G	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:27066581G>A	uc001rhk.3	-	c.1614C>T	c.(1612-1614)ACC>ACT	p.T538T	C12orf11_uc001rhj.3_Silent_p.T106T|C12orf11_uc010sjk.1_Silent_p.T437T	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	hypothetical protein LOC55726	538					cell division|mitosis|regulation of mitotic cell cycle		protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Colorectal(261;0.0847)													0.242647	181.130724	197.544484	66	206	KEEP	---	---	---	---	capture		Silent	SNP	27066581	27066581	1719	12	G	A	A	A	548	43	C12orf11	2	2
PRMT8	56341	broad.mit.edu	37	12	3677968	3677968	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:3677968A>G	uc001qmf.2	+	c.578A>G	c.(577-579)TAT>TGT	p.Y193C	PRMT8_uc009zed.2_Missense_Mutation_p.Y184C|PRMT8_uc009zee.1_Non-coding_Transcript|PRMT8_uc001qmg.2_Missense_Mutation_p.Y7C	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	HMT1 hnRNP methyltransferase-like 4	193					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			ovary(3)	3			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)											0.269663	68.952021	73.226314	24	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3677968	3677968	12985	12	A	G	G	G	208	16	PRMT8	4	4
GALNT8	26290	broad.mit.edu	37	12	4872541	4872541	+	Silent	SNP	C	T	T			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:4872541C>T	uc001qne.1	+	c.1482C>T	c.(1480-1482)ATC>ATT	p.I494I		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	494	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)|pancreas(1)	2						Colon(108;631 1558 7270 20097 39846)								0.311828	85.164917	88.083942	29	64	KEEP	---	---	---	---	capture		Silent	SNP	4872541	4872541	6483	12	C	T	T	T	395	31	GALNT8	1	1
ZFC3H1	196441	broad.mit.edu	37	12	72022764	72022764	+	Silent	SNP	T	G	G			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:72022764T>G	uc001swo.2	-	c.3880A>C	c.(3880-3882)AGA>CGA	p.R1294R		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	1294					RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)	4														0.129032	3.747642	7.983554	4	27	KEEP	---	---	---	---	capture		Silent	SNP	72022764	72022764	18221	12	T	G	G	G	700	54	ZFC3H1	4	4
ZC3H13	23091	broad.mit.edu	37	13	46559563	46559563	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:46559563C>T	uc010tfw.1	-	c.1589G>A	c.(1588-1590)GGC>GAC	p.G530D	ZC3H13_uc001vas.1_Missense_Mutation_p.G530D|ZC3H13_uc001vat.1_Missense_Mutation_p.G530D	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	530	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		Esophageal Squamous(187;747 2077 11056 31291 44172)								0.180556	24.13002	31.046001	13	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46559563	46559563	18153	13	C	T	T	T	338	26	ZC3H13	2	2
BRF1	2972	broad.mit.edu	37	14	105692426	105692426	+	Missense_Mutation	SNP	A	C	C			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105692426A>C	uc001yqp.2	-	c.1028T>G	c.(1027-1029)CTG>CGG	p.L343R	BRF1_uc010tyo.1_Missense_Mutation_p.L228R|BRF1_uc010typ.1_Missense_Mutation_p.L228R|BRF1_uc001yql.2_Missense_Mutation_p.L139R|BRF1_uc001yqo.2_Missense_Mutation_p.L105R|BRF1_uc010axg.1_Missense_Mutation_p.L316R|BRF1_uc001yqn.2_Intron|BRF1_uc010axh.1_Intron	NM_001519	NP_001510	Q92994	TF3B_HUMAN	transcription initiation factor IIIB isoform 1	343					regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	RNA polymerase III transcription factor activity|transcription activator activity|translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)										0.1875	33.675413	40.99722	15	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105692426	105692426	1541	14	A	C	C	C	91	7	BRF1	4	4
USP8	9101	broad.mit.edu	37	15	50769639	50769639	+	Silent	SNP	T	G	G			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:50769639T>G	uc001zym.3	+	c.1161T>G	c.(1159-1161)TCT>TCG	p.S387S	USP8_uc001zyk.1_Silent_p.S88S|USP8_uc001zyl.3_Silent_p.S387S|USP8_uc001zyn.3_Silent_p.S387S|USP8_uc010ufh.1_Silent_p.S310S|USP8_uc010bev.1_Silent_p.S16S	NM_001128611	NP_001122083	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	387					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)|central_nervous_system(1)	2				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)										0.242857	39.365457	43.674904	17	53	KEEP	---	---	---	---	capture		Silent	SNP	50769639	50769639	17653	15	T	G	G	G	678	53	USP8	4	4
ADAMTS7	11173	broad.mit.edu	37	15	79058500	79058500	+	Silent	SNP	G	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:79058500G>A	uc002bej.3	-	c.3753C>T	c.(3751-3753)TCC>TCT	p.S1251S	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1251					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0														0.3125	45.608582	47.110224	15	33	KEEP	---	---	---	---	capture		Silent	SNP	79058500	79058500	272	15	G	A	A	A	444	35	ADAMTS7	2	2
ARNT2	9915	broad.mit.edu	37	15	80869214	80869214	+	Silent	SNP	G	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:80869214G>A	uc002bfr.2	+	c.1521G>A	c.(1519-1521)AAG>AAA	p.K507K	ARNT2_uc010unm.1_Silent_p.K496K|ARNT2_uc002bfs.2_Silent_p.K496K	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	aryl hydrocarbon receptor nuclear translocator	507					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription regulator activity			central_nervous_system(3)|ovary(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.134)											0.293478	79.89849	83.405044	27	65	KEEP	---	---	---	---	capture		Silent	SNP	80869214	80869214	984	15	G	A	A	A	425	33	ARNT2	2	2
ARNT2	9915	broad.mit.edu	37	15	80869217	80869217	+	Silent	SNP	G	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:80869217G>A	uc002bfr.2	+	c.1524G>A	c.(1522-1524)AAG>AAA	p.K508K	ARNT2_uc010unm.1_Silent_p.K497K|ARNT2_uc002bfs.2_Silent_p.K497K	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	aryl hydrocarbon receptor nuclear translocator	508					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription regulator activity			central_nervous_system(3)|ovary(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.134)											0.284211	79.916	83.869122	27	68	KEEP	---	---	---	---	capture		Silent	SNP	80869217	80869217	984	15	G	A	A	A	425	33	ARNT2	2	2
GTF3C1	2975	broad.mit.edu	37	16	27481580	27481580	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:27481580C>T	uc002dov.1	-	c.4663G>A	c.(4663-4665)GAC>AAC	p.D1555N	GTF3C1_uc002dou.2_Missense_Mutation_p.D1555N	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1555					5S class rRNA transcription from RNA polymerase III type 1 promoter|tRNA transcription from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|breast(1)|pancreas(1)	4														0.215385	69.06382	78.757254	28	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27481580	27481580	7152	16	C	T	T	T	403	31	GTF3C1	1	1
SRRM2	23524	broad.mit.edu	37	16	2813050	2813050	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2813050C>T	uc002crk.2	+	c.2521C>T	c.(2521-2523)CAT>TAT	p.H841Y	SRRM2_uc002crj.1_Missense_Mutation_p.H745Y|SRRM2_uc002crl.1_Missense_Mutation_p.H841Y|SRRM2_uc010bsu.1_Missense_Mutation_p.H745Y	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	841	Ser-rich.				nuclear mRNA splicing, via spliceosome	Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.296552	116.3819	121.741577	43	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2813050	2813050	15683	16	C	T	T	T	377	29	SRRM2	2	2
ZNF48	197407	broad.mit.edu	37	16	30408675	30408675	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:30408675C>T	uc002dya.1	+	c.104C>T	c.(103-105)TCT>TTT	p.S35F	ZNF48_uc002dxz.1_5'UTR	NM_152652	NP_689865	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	35					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.217391	39.290905	44.369173	15	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30408675	30408675	18528	16	C	T	T	T	416	32	ZNF48	2	2
ZNF48	197407	broad.mit.edu	37	16	30409150	30409150	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:30409150C>G	uc002dya.1	+	c.579C>G	c.(577-579)ATC>ATG	p.I193M	ZNF48_uc002dxz.1_Missense_Mutation_p.I70M	NM_152652	NP_689865	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	193	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.25641	29.330283	31.42965	10	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30409150	30409150	18528	16	C	G	G	G	408	32	ZNF48	3	3
SRCAP	10847	broad.mit.edu	37	16	30732059	30732059	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:30732059G>C	uc002dze.1	+	c.3013G>C	c.(3013-3015)GAA>CAA	p.E1005Q	SRCAP_uc002dzf.2_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.E862Q|SRCAP_uc010bzz.1_Missense_Mutation_p.E575Q	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1005	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)	3			Colorectal(24;0.198)											0.302158	120.576523	125.447922	42	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30732059	30732059	15649	16	G	C	C	C	429	33	SRCAP	3	3
PHKB	5257	broad.mit.edu	37	16	47533691	47533691	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:47533691A>G	uc002eev.3	+	c.191A>G	c.(190-192)CAA>CGA	p.Q64R	PHKB_uc010vgi.1_Missense_Mutation_p.Q57R|PHKB_uc002eeu.3_Missense_Mutation_p.Q57R	NM_000293	NP_000284	Q93100	KPBB_HUMAN	phosphorylase kinase, beta isoform a	64					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			ovary(1)|large_intestine(1)|breast(1)	3		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)												0.286957	92.564688	97.22497	33	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47533691	47533691	12269	16	A	G	G	G	65	5	PHKB	4	4
DNAH9	1770	broad.mit.edu	37	17	11631220	11631220	+	Nonsense_Mutation	SNP	T	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:11631220T>A	uc002gne.2	+	c.5795T>A	c.(5794-5796)TTG>TAG	p.L1932*	DNAH9_uc010coo.2_Nonsense_Mutation_p.L1226*	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	1932	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	10		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)										0.444444	40.297765	40.370195	12	15	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	11631220	11631220	4791	17	T	A	A	A	819	63	DNAH9	5	3
TSR1	55720	broad.mit.edu	37	17	2234267	2234267	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:2234267C>T	uc002fuj.2	-	c.1633G>A	c.(1633-1635)GAA>AAA	p.E545K	SNORD91B_uc002fuk.1_5'Flank|SNORD91A_uc002ful.1_5'Flank	NM_018128	NP_060598	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation	545					ribosome assembly	nucleolus	protein binding			ovary(1)	1														0.241379	19.212269	20.980275	7	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2234267	2234267	17217	17	C	T	T	T	377	29	TSR1	2	2
NUFIP2	57532	broad.mit.edu	37	17	27613317	27613317	+	Silent	SNP	G	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:27613317G>A	uc002hdy.3	-	c.1695C>T	c.(1693-1695)TAC>TAT	p.Y565Y	NUFIP2_uc002hdx.3_Intron	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein	565						nucleus|polysomal ribosome	protein binding|RNA binding			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)											0.116667	7.432466	16.064518	7	53	KEEP	---	---	---	---	capture		Silent	SNP	27613317	27613317	11154	17	G	A	A	A	516	40	NUFIP2	1	1
KPNA2	3838	broad.mit.edu	37	17	66042019	66042019	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:66042019G>C	uc002jgk.2	+	c.1479G>C	c.(1477-1479)GAG>GAC	p.E493D	KPNA2_uc002jgl.2_Missense_Mutation_p.E493D	NM_002266	NP_002257	P52292	IMA2_HUMAN	karyopherin alpha 2	493	ARM 10; atypical.				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			central_nervous_system(2)	2	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)											0.186813	42.218509	50.58251	17	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66042019	66042019	8744	17	G	C	C	C	425	33	KPNA2	3	3
METTL4	64863	broad.mit.edu	37	18	2567170	2567170	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:2567170G>C	uc002klh.3	-	c.46C>G	c.(46-48)CTT>GTT	p.L16V		NM_022840	NP_073751	Q8N3J2	METL4_HUMAN	methyltransferase like 4	16					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			kidney(1)|skin(1)	2														0.410714	76.820972	77.209053	23	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2567170	2567170	9892	18	G	C	C	C	429	33	METTL4	3	3
DSG3	1830	broad.mit.edu	37	18	29039000	29039000	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:29039000C>A	uc002kws.2	+	c.377C>A	c.(376-378)ACA>AAA	p.T126K		NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	126	Extracellular (Potential).|Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			ovary(3)|lung(1)|central_nervous_system(1)	5			OV - Ovarian serous cystadenocarcinoma(10;0.00504)											0.388889	45.241779	45.63122	14	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29039000	29039000	4962	18	C	A	A	A	221	17	DSG3	2	2
KEAP1	9817	broad.mit.edu	37	19	10610574	10610574	+	Nonsense_Mutation	SNP	G	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10610574G>A	uc002moq.1	-	c.136C>T	c.(136-138)CAG>TAG	p.Q46*	KEAP1_uc002mor.1_Nonsense_Mutation_p.Q46*	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(2)|ovary(1)|pancreas(1)	4			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)											0.305556	59.458809	61.92862	22	50	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	10610574	10610574	8447	19	G	A	A	A	611	47	KEAP1	5	2
SMARCA4	6597	broad.mit.edu	37	19	11100021	11100021	+	Nonsense_Mutation	SNP	C	T	T			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:11100021C>T	uc010dxo.2	+	c.1147C>T	c.(1147-1149)CAG>TAG	p.Q383*	SMARCA4_uc002mqf.3_Nonsense_Mutation_p.Q383*|SMARCA4_uc010dxp.2_Nonsense_Mutation_p.Q383*|SMARCA4_uc002mqg.1_Nonsense_Mutation_p.Q383*|SMARCA4_uc010dxq.2_Nonsense_Mutation_p.Q383*|SMARCA4_uc010dxr.2_Nonsense_Mutation_p.Q383*|SMARCA4_uc002mqj.3_Nonsense_Mutation_p.Q383*|SMARCA4_uc010dxs.2_Nonsense_Mutation_p.Q383*|SMARCA4_uc002mqe.2_Nonsense_Mutation_p.Q383*	NM_001128849	NP_001122321	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	383					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of S phase of mitotic cell cycle|nervous system development|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription activator activity|transcription corepressor activity	p.?(1)		lung(29)|ovary(7)|pancreas(7)|large_intestine(5)|prostate(3)|central_nervous_system(2)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|skin(1)|autonomic_ganglia(1)|kidney(1)	61		all_lung(6;0.0512)|Lung NSC(9;0.0568)								582				0.215686	25.899348	29.702166	11	40	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	11100021	11100021	15268	19	C	T	T	T	377	29	SMARCA4	5	2
THOP1	7064	broad.mit.edu	37	19	2813149	2813150	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:2813149_2813150GG>TT	uc002lwj.2	+	c.1945_1946GG>TT	c.(1945-1947)GGC>TTC	p.G649F	THOP1_uc010xgz.1_Missense_Mutation_p.G528F|THOP1_uc002lwk.2_Missense_Mutation_p.G218F	NM_003249	NP_003240	P52888	THOP1_HUMAN	thimet oligopeptidase 1	649					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)										0.45	28.809341	28.84492	9	11	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	2813149	2813150	16399	19	GG	TT	TT	TT	507	39	THOP1	1	1
TSHZ3	57616	broad.mit.edu	37	19	31768163	31768163	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31768163C>G	uc002nsy.3	-	c.2536G>C	c.(2536-2538)GAT>CAT	p.D846H		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	846					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)													0.552381	205.56104	205.811842	58	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31768163	31768163	17176	19	C	G	G	G	416	32	TSHZ3	3	3
SUPT5H	6829	broad.mit.edu	37	19	39962250	39962250	+	Silent	SNP	A	G	G			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:39962250A>G	uc002olo.3	+	c.1830A>G	c.(1828-1830)CGA>CGG	p.R610R	SUPT5H_uc002olp.3_Silent_p.R610R|SUPT5H_uc002olq.3_Silent_p.R606R|SUPT5H_uc002oln.3_Silent_p.R610R|SUPT5H_uc002olr.3_Silent_p.R610R|SUPT5H_uc002ols.1_Silent_p.R233R|SUPT5H_uc010egp.1_5'UTR	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	610	KOW 4.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|negative transcription elongation factor activity|positive transcription elongation factor activity|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)											0.6	104.863527	105.302662	30	20	KEEP	---	---	---	---	capture		Silent	SNP	39962250	39962250	15919	19	A	G	G	G	132	11	SUPT5H	4	4
FLT3LG	2323	broad.mit.edu	37	19	49982278	49982278	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:49982278G>T	uc010yau.1	+	c.455G>T	c.(454-456)CGG>CTG	p.R152L	FLT3LG_uc002pnv.2_Missense_Mutation_p.R70L|FLT3LG_uc002pnw.2_Missense_Mutation_p.R70L|FLT3LG_uc002pnu.2_Missense_Mutation_p.R152L|FLT3LG_uc002pnx.2_Missense_Mutation_p.R152L|FLT3LG_uc010yav.1_Missense_Mutation_p.R70L	NM_001459	NP_001450	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand precursor	152	Extracellular (Potential).				positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity				0		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)										0.5	22.335607	22.335607	7	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49982278	49982278	6185	19	G	T	T	T	507	39	FLT3LG	1	1
HSD3B1	3283	broad.mit.edu	37	1	120057020	120057020	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:120057020T>C	uc001ehw.2	+	c.880T>C	c.(880-882)TAT>CAT	p.Y294H	HSD3B1_uc001ehv.1_Missense_Mutation_p.Y292H	NM_000862	NP_000853	P14060	3BHS1_HUMAN	3 beta-hydroxysteroid dehydrogenase 1	292	Helical; (Potential).				androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|oxidation-reduction process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)									0.24	51.23476	55.84717	18	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120057020	120057020	7685	1	T	C	C	C	741	57	HSD3B1	4	4
ITGA10	8515	broad.mit.edu	37	1	145535838	145535838	+	Silent	SNP	C	T	T			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:145535838C>T	uc001eoa.2	+	c.2026C>T	c.(2026-2028)CTG>TTG	p.L676L	NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Silent_p.L545L|ITGA10_uc009wiw.2_Silent_p.L533L|ITGA10_uc010oyw.1_Silent_p.L621L	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	676	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			lung(2)|ovary(2)|kidney(2)|large_intestine(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)									450				0.4	138.876958	139.839247	44	66	KEEP	---	---	---	---	capture		Silent	SNP	145535838	145535838	8177	1	C	T	T	T	415	32	ITGA10	2	2
HIST2H2AC	8338	broad.mit.edu	37	1	149858560	149858560	+	Silent	SNP	C	T	T			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:149858560C>T	uc001etd.2	+	c.36C>T	c.(34-36)CGC>CGT	p.R12R	HIST2H2BE_uc001etc.2_5'Flank	NM_003517	NP_003508	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	12					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)	1	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)											0.285714	93.855339	98.985202	36	90	KEEP	---	---	---	---	capture		Silent	SNP	149858560	149858560	7465	1	C	T	T	T	340	27	HIST2H2AC	1	1
DENND4B	9909	broad.mit.edu	37	1	153907270	153907270	+	Silent	SNP	C	T	T			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:153907270C>T	uc001fdd.1	-	c.2739G>A	c.(2737-2739)GTG>GTA	p.V913V		NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	913	Gln-rich.									ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)											0.351351	36.976232	37.691768	13	24	KEEP	---	---	---	---	capture		Silent	SNP	153907270	153907270	4613	1	C	T	T	T	210	17	DENND4B	2	2
F13B	2165	broad.mit.edu	37	1	197019966	197019966	+	Silent	SNP	T	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197019966T>A	uc001gtt.1	-	c.1599A>T	c.(1597-1599)GGA>GGT	p.G533G		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	533	Sushi 9.				blood coagulation	extracellular region				central_nervous_system(1)	1														0.210526	27.802819	32.196613	12	45	KEEP	---	---	---	---	capture		Silent	SNP	197019966	197019966	5535	1	T	A	A	A	691	54	F13B	3	3
NR5A2	2494	broad.mit.edu	37	1	200014594	200014594	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:200014594A>T	uc001gvb.2	+	c.345A>T	c.(343-345)CAA>CAT	p.Q115H	NR5A2_uc001gvc.2_Missense_Mutation_p.Q69H|NR5A2_uc009wzh.2_Missense_Mutation_p.Q75H|NR5A2_uc010pph.1_Missense_Mutation_p.Q43H	NM_205860	NP_995582	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	115	Nuclear receptor.				embryo development|positive regulation of gene-specific transcription|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|promoter binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|zinc ion binding			large_intestine(1)|ovary(1)	2	Prostate(682;0.19)					Melanoma(179;1138 2773 15678 26136)								0.2	20.050953	23.81674	9	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	200014594	200014594	11041	1	A	T	T	T	11	1	NR5A2	3	3
NAV1	89796	broad.mit.edu	37	1	201749556	201749556	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:201749556G>A	uc001gwu.2	+	c.1234G>A	c.(1234-1236)GAA>AAA	p.E412K	NAV1_uc001gwv.1_5'UTR|NAV1_uc001gww.1_Missense_Mutation_p.E21K|NAV1_uc001gwx.2_Missense_Mutation_p.E21K|NAV1_uc001gwy.1_5'Flank	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	412					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(2)|ovary(1)	3														0.246154	39.083921	42.886958	16	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	201749556	201749556	10579	1	G	A	A	A	585	45	NAV1	2	2
NAV1	89796	broad.mit.edu	37	1	201777216	201777216	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:201777216G>A	uc001gwu.2	+	c.3775G>A	c.(3775-3777)GAG>AAG	p.E1259K	NAV1_uc001gwx.2_Missense_Mutation_p.E868K|MIR1231_hsa-mir-1231|MI0006321_5'Flank	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1262					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(2)|ovary(1)	3														0.36	80.590472	81.889587	27	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	201777216	201777216	10579	1	G	A	A	A	429	33	NAV1	2	2
USH2A	7399	broad.mit.edu	37	1	216405452	216405452	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216405452T>C	uc001hku.1	-	c.2836A>G	c.(2836-2838)ACT>GCT	p.T946A	USH2A_uc001hkv.2_Missense_Mutation_p.T946A	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	946	Laminin EGF-like 8.|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)										0.367089	72.540701	73.772379	29	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216405452	216405452	17598	1	T	C	C	C	767	59	USH2A	4	4
EPRS	2058	broad.mit.edu	37	1	220160560	220160560	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:220160560C>A	uc001hly.1	-	c.2962G>T	c.(2962-2964)GAC>TAC	p.D988Y	EPRS_uc010puf.1_Missense_Mutation_p.D739Y|EPRS_uc001hlz.1_Missense_Mutation_p.D995Y	NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	988	Charged.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)									0.269663	62.085358	66.33121	24	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220160560	220160560	5384	1	C	A	A	A	416	32	EPRS	2	2
URB2	9816	broad.mit.edu	37	1	229771675	229771675	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:229771675G>A	uc001hts.1	+	c.1315G>A	c.(1315-1317)GAG>AAG	p.E439K	URB2_uc009xfd.1_Missense_Mutation_p.E439K	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	439						nucleolus				central_nervous_system(2)|ovary(1)	3										340				0.29703	86.326567	90.037774	30	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	229771675	229771675	17587	1	G	A	A	A	481	37	URB2	1	1
GALNT2	2590	broad.mit.edu	37	1	230415081	230415081	+	Silent	SNP	G	C	C			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:230415081G>C	uc010pwa.1	+	c.1593G>C	c.(1591-1593)CTG>CTC	p.L531L	GALNT2_uc010pvy.1_Silent_p.L493L|GALNT2_uc001htu.2_Silent_p.L143L	NM_004481	NP_004472	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	531	Lumenal (Potential).|Ricin B-type lectin.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)												0.375	38.199064	38.635281	12	20	KEEP	---	---	---	---	capture		Silent	SNP	230415081	230415081	6477	1	G	C	C	C	574	45	GALNT2	3	3
ZP4	57829	broad.mit.edu	37	1	238048576	238048576	+	Silent	SNP	G	T	T			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:238048576G>T	uc001hym.2	-	c.1200C>A	c.(1198-1200)ATC>ATA	p.I400I	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	400	ZP.|Extracellular (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(1)	1	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			NSCLC(166;160 2029 11600 18754 19936)								0.275862	19.58396	20.898548	8	21	KEEP	---	---	---	---	capture		Silent	SNP	238048576	238048576	18822	1	G	T	T	T	525	41	ZP4	2	2
NLRP3	114548	broad.mit.edu	37	1	247587274	247587274	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247587274C>A	uc001icr.2	+	c.529C>A	c.(529-531)CAC>AAC	p.H177N	NLRP3_uc001ics.2_Missense_Mutation_p.H177N|NLRP3_uc001icu.2_Missense_Mutation_p.H177N|NLRP3_uc001icw.2_Missense_Mutation_p.H177N|NLRP3_uc001icv.2_Missense_Mutation_p.H177N|NLRP3_uc010pyw.1_Missense_Mutation_p.H175N|NLRP3_uc001ict.1_Missense_Mutation_p.H175N	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	177					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			ovary(5)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	11	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)							412				0.56	45.252818	45.331487	14	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247587274	247587274	10881	1	C	A	A	A	325	25	NLRP3	2	2
OR2L13	284521	broad.mit.edu	37	1	248263401	248263401	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248263401A>G	uc001ids.2	+	c.724A>G	c.(724-726)ACA>GCA	p.T242A		NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L,	242	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			central_nervous_system(2)|ovary(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)							85				0.04717	-10.808987	12.337582	5	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248263401	248263401	11412	1	A	G	G	G	26	2	OR2L13	4	4
DMBX1	127343	broad.mit.edu	37	1	46976626	46976626	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:46976626G>A	uc001cpx.2	+	c.368G>A	c.(367-369)CGG>CAG	p.R123Q	DMBX1_uc001cpw.2_Missense_Mutation_p.R118Q	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1 isoform b	123	Homeobox.|Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)													0.368421	19.320079	19.609152	7	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46976626	46976626	4758	1	G	A	A	A	507	39	DMBX1	1	1
ACADM	34	broad.mit.edu	37	1	76198356	76198356	+	Missense_Mutation	SNP	A	C	C			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:76198356A>C	uc009wbr.2	+	c.146A>C	c.(145-147)CAA>CCA	p.Q49P	ACADM_uc010orc.1_Missense_Mutation_p.Q49P|ACADM_uc010ord.1_5'UTR|ACADM_uc001dgw.3_Missense_Mutation_p.Q49P|ACADM_uc009wbp.2_Missense_Mutation_p.Q53P|ACADM_uc010ore.1_Missense_Mutation_p.Q13P|ACADM_uc010orf.1_5'UTR|ACADM_uc001dgx.3_5'UTR|ACADM_uc010org.1_5'UTR	NM_000016	NP_000007	P11310	ACADM_HUMAN	medium-chain acyl-CoA dehydrogenase isoform a	49					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(2)|ovary(1)	3														0.449438	134.596132	134.793012	40	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76198356	76198356	114	1	A	C	C	C	65	5	ACADM	4	4
LPPR4	9890	broad.mit.edu	37	1	99764596	99764596	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:99764596C>T	uc001dse.2	+	c.544C>T	c.(544-546)CAT>TAT	p.H182Y	LPPR4_uc010oue.1_Missense_Mutation_p.H182Y	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	182	Helical; (Potential).						phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)										0.255814	30.905665	33.230183	11	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99764596	99764596	9300	1	C	T	T	T	377	29	LPPR4	2	2
DUSP15	128853	broad.mit.edu	37	20	30451754	30451754	+	Silent	SNP	G	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:30451754G>A	uc002wwx.1	-	c.219C>T	c.(217-219)TTC>TTT	p.F73F	DUSP15_uc002wwu.1_Silent_p.F70F|DUSP15_uc002wwv.1_5'UTR|DUSP15_uc002www.1_5'UTR	NM_080611	NP_542178	Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15 isoform a	70	Tyrosine-protein phosphatase.					cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)											0.22973	36.512695	41.5013	17	57	KEEP	---	---	---	---	capture		Silent	SNP	30451754	30451754	5000	20	G	A	A	A	581	45	DUSP15	2	2
CECR2	27443	broad.mit.edu	37	22	18022656	18022656	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:18022656G>A	uc010gqw.1	+	c.2758G>A	c.(2758-2760)GAG>AAG	p.E920K	CECR2_uc010gqv.1_Missense_Mutation_p.E779K|CECR2_uc002zml.2_Missense_Mutation_p.E779K	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	962					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)										0.558824	63.826874	63.929062	19	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18022656	18022656	3339	22	G	A	A	A	533	41	CECR2	2	2
RANGAP1	5905	broad.mit.edu	37	22	41652800	41652800	+	Missense_Mutation	SNP	A	C	C			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:41652800A>C	uc003azs.2	-	c.803T>G	c.(802-804)GTG>GGG	p.V268G	RANGAP1_uc003azt.2_Missense_Mutation_p.V268G|RANGAP1_uc003azu.2_Missense_Mutation_p.V268G|RANGAP1_uc011aoz.1_Missense_Mutation_p.V213G	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	268					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity				0														0.4	8.179555	8.327668	6	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41652800	41652800	13493	22	A	C	C	C	78	6	RANGAP1	4	4
MLC1	23209	broad.mit.edu	37	22	50506929	50506929	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:50506929G>C	uc003bjg.1	-	c.827C>G	c.(826-828)TCT>TGT	p.S276C	MLC1_uc011arl.1_Missense_Mutation_p.S224C|MLC1_uc003bjh.1_Missense_Mutation_p.S276C|MLC1_uc011arm.1_Missense_Mutation_p.S246C|MLC1_uc011arn.1_Missense_Mutation_p.S197C|MLC1_uc011aro.1_Missense_Mutation_p.S242C	NM_139202	NP_631941	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with	276	Helical; (Potential).					basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			pancreas(1)	1		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)										0.388889	88.801553	89.573716	28	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50506929	50506929	10002	22	G	C	C	C	429	33	MLC1	3	3
TUBGCP6	85378	broad.mit.edu	37	22	50682674	50682674	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:50682674A>G	uc003bkb.1	-	c.215T>C	c.(214-216)ATG>ACG	p.M72T	TUBGCP6_uc010har.1_Missense_Mutation_p.M72T|TUBGCP6_uc010has.1_Non-coding_Transcript|TUBGCP6_uc010hau.1_Missense_Mutation_p.M72T	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	72					G2/M transition of mitotic cell cycle|microtubule nucleation	cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)										0.492754	108.74683	108.749998	34	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50682674	50682674	17325	22	A	G	G	G	104	8	TUBGCP6	4	4
C2orf29	55571	broad.mit.edu	37	2	101874279	101874279	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:101874279G>A	uc002taw.3	+	c.541G>A	c.(541-543)GAA>AAA	p.E181K		NM_017546	NP_060016	Q9UKZ1	CB029_HUMAN	hypothetical protein LOC55571	181					cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5														0.308824	62.191135	64.383764	21	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101874279	101874279	2249	2	G	A	A	A	429	33	C2orf29	2	2
C2orf29	55571	broad.mit.edu	37	2	101874347	101874347	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:101874347G>C	uc002taw.3	+	c.609G>C	c.(607-609)CAG>CAC	p.Q203H		NM_017546	NP_060016	Q9UKZ1	CB029_HUMAN	hypothetical protein LOC55571	203					cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5														0.386667	92.857865	93.702079	29	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101874347	101874347	2249	2	G	C	C	C	425	33	C2orf29	3	3
TANC1	85461	broad.mit.edu	37	2	160086373	160086373	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:160086373C>G	uc002uag.2	+	c.4436C>G	c.(4435-4437)CCA>CGA	p.P1479R	TANC1_uc010zcm.1_3'UTR|TANC1_uc010fon.2_Missense_Mutation_p.P323R	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1479						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3														0.301075	73.514124	76.773782	28	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160086373	160086373	16065	2	C	G	G	G	273	21	TANC1	3	3
XIRP2	129446	broad.mit.edu	37	2	168104901	168104901	+	Silent	SNP	G	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168104901G>A	uc002udx.2	+	c.6999G>A	c.(6997-6999)AAG>AAA	p.K2333K	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.K2158K|XIRP2_uc010fpq.2_Silent_p.K2111K|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2158	Pro-rich.				actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.279279	88.404563	93.251146	31	80	KEEP	---	---	---	---	capture		Silent	SNP	168104901	168104901	18011	2	G	A	A	A	425	33	XIRP2	2	2
WIPF1	7456	broad.mit.edu	37	2	175436481	175436481	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:175436481G>A	uc010fqt.1	-	c.1052C>T	c.(1051-1053)CCA>CTA	p.P351L	WIPF1_uc002uja.2_Missense_Mutation_p.P351L|WIPF1_uc002ujc.1_Missense_Mutation_p.P351L|WIPF1_uc002uiy.2_Missense_Mutation_p.P351L|WIPF1_uc002uiz.2_Missense_Mutation_p.P351L|WIPF1_uc002ujb.1_Missense_Mutation_p.P351L|WIPF1_uc010zep.1_Missense_Mutation_p.P351L	NM_003387	NP_003378	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	351	Pro-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			ovary(1)	1														0.431034	78.036206	78.281338	25	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175436481	175436481	17941	2	G	A	A	A	611	47	WIPF1	2	2
APOB	338	broad.mit.edu	37	2	21234442	21234442	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21234442G>C	uc002red.2	-	c.5298C>G	c.(5296-5298)TTC>TTG	p.F1766L		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1766					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus|very-low-density lipoprotein particle assembly	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|central_nervous_system(3)|large_intestine(2)|pancreas(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)									0.253333	107.018372	115.277235	38	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21234442	21234442	796	2	G	C	C	C	425	33	APOB	3	3
CXCR1	3577	broad.mit.edu	37	2	219029334	219029334	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219029334C>G	uc002vhc.2	-	c.601G>C	c.(601-603)GTG>CTG	p.V201L		NM_000634	NP_000625	P25024	CXCR1_HUMAN	interleukin 8 receptor alpha	201	Helical; Name=5; (Potential).				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity				0										31				0.152174	9.931758	15.397992	7	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	219029334	219029334	4250	2	C	G	G	G	234	18	CXCR1	3	3
DHX57	90957	broad.mit.edu	37	2	39089319	39089319	+	Silent	SNP	T	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:39089319T>A	uc002rrf.2	-	c.540A>T	c.(538-540)ACA>ACT	p.T180T	DHX57_uc002rre.2_5'UTR|DHX57_uc002rrg.2_Silent_p.T180T	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	180	UBA.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|lung(1)	2		all_hematologic(82;0.248)				Melanoma(191;1090 2095 4375 23729 47341)								0.186047	16.773448	20.746634	8	35	KEEP	---	---	---	---	capture		Silent	SNP	39089319	39089319	4692	2	T	A	A	A	704	55	DHX57	3	3
ABCG5	64240	broad.mit.edu	37	2	44051074	44051074	+	Silent	SNP	G	T	T			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:44051074G>T	uc002rtn.2	-	c.1302C>A	c.(1300-1302)GGC>GGA	p.G434G	ABCG5_uc002rtm.2_Silent_p.G39G|ABCG5_uc002rto.2_Silent_p.G263G|ABCG5_uc002rtp.2_Silent_p.G39G	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	ATP-binding cassette sub-family G member 5	434	Helical; Name=2; (Potential).|ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|intestinal cholesterol absorption|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)												0.119048	5.22044	11.27623	5	37	KEEP	---	---	---	---	capture		Silent	SNP	44051074	44051074	72	2	G	T	T	T	587	46	ABCG5	2	2
PHLDB2	90102	broad.mit.edu	37	3	111638039	111638039	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:111638039C>A	uc010hqa.2	+	c.1840C>A	c.(1840-1842)CAG>AAG	p.Q614K	PHLDB2_uc003dyc.2_Missense_Mutation_p.Q641K|PHLDB2_uc003dyd.2_Missense_Mutation_p.Q614K|PHLDB2_uc003dyg.2_Missense_Mutation_p.Q614K|PHLDB2_uc003dyh.2_Missense_Mutation_p.Q614K|PHLDB2_uc003dyi.2_Missense_Mutation_p.Q200K	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	614	Potential.					cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)	4														0.216216	39.461175	44.958797	16	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111638039	111638039	12276	3	C	A	A	A	377	29	PHLDB2	2	2
ITGB5	3693	broad.mit.edu	37	3	124578095	124578095	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:124578095G>A	uc003eho.2	-	c.355C>T	c.(355-357)CGG>TGG	p.R119W		NM_002213	NP_002204	P18084	ITB5_HUMAN	integrin, beta 5 precursor	119	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			skin(1)	1				GBM - Glioblastoma multiforme(114;0.163)										0.266667	56.273958	59.957155	20	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124578095	124578095	8202	3	G	A	A	A	506	39	ITGB5	1	1
MLF1	4291	broad.mit.edu	37	3	158322896	158322896	+	Nonsense_Mutation	SNP	C	T	T			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:158322896C>T	uc003fcc.2	+	c.805C>T	c.(805-807)CAA>TAA	p.Q269*	MLF1_uc003fbz.2_Nonsense_Mutation_p.Q213*|MLF1_uc003fca.2_Nonsense_Mutation_p.Q213*|MLF1_uc003fcb.2_Nonsense_Mutation_p.Q238*|MLF1_uc003fbx.2_Nonsense_Mutation_p.Q228*|MLF1_uc003fby.2_Nonsense_Mutation_p.Q164*|MLF1_uc010hvx.2_Nonsense_Mutation_p.Q170*	NM_001130157	NP_001123629	P58340	MLF1_HUMAN	myeloid leukemia factor 1 isoform 2	238					cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding				0		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)							351				0.235294	10.891393	11.980653	4	13	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	158322896	158322896	10004	3	C	T	T	T	377	29	MLF1	5	2
MAP3K13	9175	broad.mit.edu	37	3	185146488	185146488	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:185146488C>A	uc010hyf.2	+	c.119C>A	c.(118-120)CCC>CAC	p.P40H	MAP3K13_uc011brt.1_Intron|MAP3K13_uc003fph.3_5'UTR|MAP3K13_uc011bru.1_Intron|MAP3K13_uc003fpi.2_Missense_Mutation_p.P40H|MAP3K13_uc010hyg.2_5'UTR	NM_004721	NP_004712	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase	40					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			ovary(2)|skin(1)	3	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)							296				0.1	2.308794	7.098382	3	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	185146488	185146488	9630	3	C	A	A	A	286	22	MAP3K13	2	2
EFHB	151651	broad.mit.edu	37	3	19961408	19961408	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:19961408C>T	uc003cbl.3	-	c.913G>A	c.(913-915)GAA>AAA	p.E305K	EFHB_uc003cbm.2_Missense_Mutation_p.E175K	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	EF hand domain family, member B	305					signal transduction	proteinaceous extracellular matrix	calcium ion binding				0														0.227848	43.25597	48.692626	18	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19961408	19961408	5133	3	C	T	T	T	416	32	EFHB	2	2
NGLY1	55768	broad.mit.edu	37	3	25781184	25781184	+	Silent	SNP	T	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:25781184T>A	uc003cdl.2	-	c.765A>T	c.(763-765)GGA>GGT	p.G255G	NGLY1_uc010hfg.2_Silent_p.G255G|NGLY1_uc003cdm.2_Silent_p.G255G|NGLY1_uc011awo.1_Silent_p.G213G|NGLY1_uc003cdk.2_Intron	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN	N-glycanase 1 isoform 1	255					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)	1														0.285714	79.002918	83.332207	30	75	KEEP	---	---	---	---	capture		Silent	SNP	25781184	25781184	10798	3	T	A	A	A	743	58	NGLY1	3	3
ROBO1	6091	broad.mit.edu	37	3	78710334	78710334	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:78710334G>T	uc003dqe.2	-	c.2166C>A	c.(2164-2166)GAC>GAA	p.D722E	ROBO1_uc003dqb.2_Missense_Mutation_p.D683E|ROBO1_uc003dqc.2_Missense_Mutation_p.D686E|ROBO1_uc003dqd.2_Missense_Mutation_p.D686E|ROBO1_uc010hoh.2_De_novo_Start_OutOfFrame|ROBO1_uc011bgl.1_Missense_Mutation_p.D294E|ROBO1_uc003dqf.1_Missense_Mutation_p.D401E	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	722	Extracellular (Potential).|Fibronectin type-III 2.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)						693				0.1	2.90189	7.696924	3	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78710334	78710334	13992	3	G	T	T	T	464	36	ROBO1	2	2
OR5H15	403274	broad.mit.edu	37	3	97888478	97888478	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:97888478C>T	uc011bgu.1	+	c.935C>T	c.(934-936)TCA>TTA	p.S312L		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H,	312	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.192308	11.377337	13.662748	5	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97888478	97888478	11571	3	C	T	T	T	377	29	OR5H15	2	2
C3orf26	84319	broad.mit.edu	37	3	99895199	99895199	+	Missense_Mutation	SNP	T	G	G			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:99895199T>G	uc003dtl.2	+	c.696T>G	c.(694-696)TTT>TTG	p.F232L		NM_032359	NP_115735	Q9BQ75	CC026_HUMAN	hypothetical protein LOC84319	232							ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(1)	1														0.290323	25.660856	26.883126	9	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99895199	99895199	2311	3	T	G	G	G	803	62	C3orf26	4	4
PCDH10	57575	broad.mit.edu	37	4	134073258	134073258	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:134073258G>A	uc003iha.2	+	c.1963G>A	c.(1963-1965)GAG>AAG	p.E655K	PCDH10_uc003igz.2_Missense_Mutation_p.E655K	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	655	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1				LUSC - Lung squamous cell carcinoma(193;0.227)										0.37037	28.942521	29.341391	10	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134073258	134073258	11927	4	G	A	A	A	585	45	PCDH10	2	2
C4orf41	60684	broad.mit.edu	37	4	184596357	184596357	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:184596357G>T	uc003ivx.2	+	c.701G>T	c.(700-702)AGT>ATT	p.S234I	C4orf41_uc003ivw.2_Missense_Mutation_p.S234I|C4orf41_uc010isc.2_Intron	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	hypothetical protein LOC60684 isoform a	234											0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)										0.5	23.125002	23.125002	7	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	184596357	184596357	2365	4	G	T	T	T	468	36	C4orf41	2	2
CNO	55330	broad.mit.edu	37	4	6718324	6718324	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:6718324C>T	uc003gjp.1	+	c.388C>T	c.(388-390)CGC>TGC	p.R130C		NM_018366	NP_060836	Q9NUP1	CNO_HUMAN	cappuccino	130					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol					0				Colorectal(103;0.0523)										0.473684	26.076182	26.087332	9	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6718324	6718324	3754	4	C	T	T	T	351	27	CNO	1	1
ZNF474	133923	broad.mit.edu	37	5	121488198	121488198	+	Missense_Mutation	SNP	T	G	G			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:121488198T>G	uc003ksv.2	+	c.513T>G	c.(511-513)TGT>TGG	p.C171W		NM_207317	NP_997200	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	171	C2H2-type; degenerate.					intracellular	zinc ion binding				0		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)										0.3	35.984561	37.41399	12	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121488198	121488198	18526	5	T	G	G	G	764	59	ZNF474	4	4
KDM3B	51780	broad.mit.edu	37	5	137734048	137734048	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:137734048G>C	uc003lcy.1	+	c.3013G>C	c.(3013-3015)GAG>CAG	p.E1005Q	KDM3B_uc010jew.1_Missense_Mutation_p.E661Q|KDM3B_uc011cys.1_Missense_Mutation_p.E37Q	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	1005					chromatin modification|oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|lung(2)|kidney(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9														0.276923	50.545254	53.442973	18	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137734048	137734048	8433	5	G	C	C	C	585	45	KDM3B	3	3
PCDHB14	56122	broad.mit.edu	37	5	140605416	140605416	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140605416G>T	uc003ljb.2	+	c.2339G>T	c.(2338-2340)GGT>GTT	p.G780V	PCDHB14_uc011dal.1_Missense_Mutation_p.G627V	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	780	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			Ovarian(141;50 1831 27899 33809 37648)								0.269663	67.536264	71.750024	24	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140605416	140605416	11959	5	G	T	T	T	572	44	PCDHB14	2	2
PCDHGB2	56103	broad.mit.edu	37	5	140741814	140741814	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140741814C>G	uc003ljs.1	+	c.2112C>G	c.(2110-2112)TTC>TTG	p.F704L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.F704L|PCDHGA5_uc011das.1_5'Flank	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	704	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.254545	82.249053	88.196575	28	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140741814	140741814	11983	5	C	G	G	G	389	30	PCDHGB2	3	3
GPR98	84059	broad.mit.edu	37	5	89923136	89923136	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:89923136A>T	uc003kju.2	+	c.781A>T	c.(781-783)AGT>TGT	p.S261C	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	261	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)										0.255814	61.313079	65.961049	22	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89923136	89923136	6997	5	A	T	T	T	195	15	GPR98	3	3
SLC22A16	85413	broad.mit.edu	37	6	110763563	110763563	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:110763563G>T	uc003puf.2	-	c.1067C>A	c.(1066-1068)ACG>AAG	p.T356K	SLC22A16_uc003pue.2_Missense_Mutation_p.T337K	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	solute carrier family 22, member 16	356					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane|plasma membrane	carnitine transporter activity			ovary(1)	1		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)										0.303571	103.539601	107.379047	34	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110763563	110763563	14943	6	G	T	T	T	520	40	SLC22A16	1	1
FRK	2444	broad.mit.edu	37	6	116263687	116263687	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:116263687A>G	uc003pwi.1	-	c.1408T>C	c.(1408-1410)TGG>CGG	p.W470R		NM_002031	NP_002022	P42685	FRK_HUMAN	fyn-related kinase	470	Protein kinase.				negative regulation of cell proliferation|protein phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|lung(3)	6		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)						355				0.305263	80.016711	83.245392	29	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116263687	116263687	6298	6	A	G	G	G	91	7	FRK	4	4
MAP3K5	4217	broad.mit.edu	37	6	136963676	136963676	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:136963676G>C	uc003qhc.2	-	c.1820C>G	c.(1819-1821)TCT>TGT	p.S607C	MAP3K5_uc011edj.1_5'UTR|MAP3K5_uc011edk.1_Missense_Mutation_p.S452C	NM_005923	NP_005914	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase	607					activation of JUN kinase activity|activation of MAPKK activity|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			ovary(2)	2	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)						1151				0.366972	130.167385	131.864863	40	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136963676	136963676	9636	6	G	C	C	C	429	33	MAP3K5	3	3
REPS1	85021	broad.mit.edu	37	6	139241422	139241422	+	Silent	SNP	C	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:139241422C>A	uc003qii.2	-	c.1458G>T	c.(1456-1458)GTG>GTT	p.V486V	REPS1_uc003qig.3_Silent_p.V459V|REPS1_uc011edr.1_Silent_p.V486V|REPS1_uc003qij.2_Silent_p.V459V|REPS1_uc003qik.2_Silent_p.V92V	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	486						coated pit|plasma membrane	calcium ion binding|SH3 domain binding				0				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)										0.181818	36.469904	44.821288	16	72	KEEP	---	---	---	---	capture		Silent	SNP	139241422	139241422	13697	6	C	A	A	A	366	29	REPS1	2	2
FNDC1	84624	broad.mit.edu	37	6	159660620	159660620	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:159660620C>A	uc010kjv.2	+	c.4252C>A	c.(4252-4254)CTG>ATG	p.L1418M	FNDC1_uc010kjw.1_Missense_Mutation_p.L1303M	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1418						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)										0.625	15.776253	15.885868	5	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159660620	159660620	6210	6	C	A	A	A	415	32	FNDC1	2	2
VARS	7407	broad.mit.edu	37	6	31746796	31746796	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31746796G>A	uc003nxe.2	-	c.3674C>T	c.(3673-3675)TCG>TTG	p.S1225L	C6orf27_uc011dog.1_5'Flank|C6orf27_uc003nxd.2_5'Flank|C6orf27_uc011doh.1_5'Flank|VARS_uc003nxf.1_Missense_Mutation_p.S162L	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1225					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			ovary(1)	1					L-Valine(DB00161)									0.333333	40.042295	41.072377	14	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31746796	31746796	17688	6	G	A	A	A	481	37	VARS	1	1
CRISP3	10321	broad.mit.edu	37	6	49704133	49704133	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:49704133A>T	uc003ozs.2	-	c.160T>A	c.(160-162)TCT>ACT	p.S54T		NM_006061	NP_006052	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3 precursor	54					innate immune response	proteinaceous extracellular matrix|specific granule				skin(1)	1	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)											0.1	1.786313	19.44334	11	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49704133	49704133	4020	6	A	T	T	T	156	12	CRISP3	3	3
TINAG	27283	broad.mit.edu	37	6	54245341	54245341	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:54245341G>T	uc003pcj.2	+	c.1268G>T	c.(1267-1269)GGA>GTA	p.G423V	TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	423					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			ovary(3)|central_nervous_system(1)	4	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)											0.458333	33.023016	33.05919	11	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54245341	54245341	16450	6	G	T	T	T	533	41	TINAG	2	2
BACH2	60468	broad.mit.edu	37	6	90660737	90660737	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:90660737T>A	uc011eab.1	-	c.1088A>T	c.(1087-1089)CAC>CTC	p.H363L	BACH2_uc003pnw.2_Missense_Mutation_p.H363L|BACH2_uc010kch.2_Missense_Mutation_p.H363L	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	363					regulation of transcription, DNA-dependent	nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|lung(1)|pancreas(1)	5		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)										0.317073	37.686468	38.892516	13	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90660737	90660737	1305	6	T	A	A	A	767	59	BACH2	3	3
AGFG2	3268	broad.mit.edu	37	7	100159952	100159952	+	Silent	SNP	C	T	T			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100159952C>T	uc003uvf.2	+	c.948C>T	c.(946-948)GAC>GAT	p.D316D	AGFG2_uc010lgy.2_Missense_Mutation_p.T178M	NM_006076	NP_006067	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	316					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)	1														0.184211	11.83388	15.382397	7	31	KEEP	---	---	---	---	capture		Silent	SNP	100159952	100159952	384	7	C	T	T	T	246	19	AGFG2	1	1
GPR22	2845	broad.mit.edu	37	7	107115456	107115456	+	Silent	SNP	G	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107115456G>A	uc003vef.2	+	c.951G>A	c.(949-951)TTG>TTA	p.L317L	COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron	NM_005295	NP_005286	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	317	Helical; Name=6; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1														0.126984	11.159999	19.707006	8	55	KEEP	---	---	---	---	capture		Silent	SNP	107115456	107115456	6957	7	G	A	A	A	581	45	GPR22	2	2
DOCK4	9732	broad.mit.edu	37	7	111629071	111629071	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:111629071C>G	uc003vfy.2	-	c.463G>C	c.(463-465)GAA>CAA	p.E155Q	DOCK4_uc003vfx.2_Missense_Mutation_p.E155Q|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Missense_Mutation_p.E155Q|DOCK4_uc003vgb.1_Missense_Mutation_p.E79Q	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	155					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	12.797653	12.977353	4	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111629071	111629071	4873	7	C	G	G	G	377	29	DOCK4	3	3
AKR1D1	6718	broad.mit.edu	37	7	137761344	137761344	+	Nonsense_Mutation	SNP	C	G	G			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:137761344C>G	uc003vtz.2	+	c.80C>G	c.(79-81)TCA>TGA	p.S27*	AKR1D1_uc011kqb.1_Nonsense_Mutation_p.S27*|AKR1D1_uc011kqc.1_Intron|AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqe.1_Nonsense_Mutation_p.S27*|AKR1D1_uc011kqf.1_Nonsense_Mutation_p.S27*	NM_005989	NP_005980	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	27					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														0.4	27.996305	28.171181	8	12	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	137761344	137761344	476	7	C	G	G	G	377	29	AKR1D1	5	3
OR2A2	442361	broad.mit.edu	37	7	143807577	143807577	+	Missense_Mutation	SNP	A	C	C			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143807577A>C	uc011ktz.1	+	c.902A>C	c.(901-903)CAC>CCC	p.H301P		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A,	301	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0783)													0.34	103.426084	105.685751	34	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143807577	143807577	11383	7	A	C	C	C	78	6	OR2A2	4	4
ZMIZ2	83637	broad.mit.edu	37	7	44799010	44799010	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:44799010G>C	uc003tlr.2	+	c.944G>C	c.(943-945)GGC>GCC	p.G315A	ZMIZ2_uc003tlq.2_Missense_Mutation_p.G283A|ZMIZ2_uc003tls.2_Missense_Mutation_p.G315A|ZMIZ2_uc003tlt.2_5'Flank|ZMIZ2_uc010kyj.2_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	315	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						NSCLC(20;604 852 1948 16908 50522)								0.202703	32.999279	39.065299	15	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44799010	44799010	18288	7	G	C	C	C	546	42	ZMIZ2	3	3
PDGFA	5154	broad.mit.edu	37	7	550631	550631	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:550631C>A	uc003sit.1	-	c.310G>T	c.(310-312)GAA>TAA	p.E104*	PDGFA_uc003sir.2_Nonsense_Mutation_p.E90*|PDGFA_uc003sis.2_Nonsense_Mutation_p.E90*	NM_033023	NP_148983	P04085	PDGFA_HUMAN	platelet-derived growth factor alpha isoform 2	90					actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development	cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity				0		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)						56				0.4	15.340524	15.473348	6	9	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	550631	550631	12078	7	C	A	A	A	390	30	PDGFA	5	2
MIOS	54468	broad.mit.edu	37	7	7612605	7612605	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:7612605G>A	uc003srf.2	+	c.499G>A	c.(499-501)GAA>AAA	p.E167K	MIOS_uc010ktp.1_Missense_Mutation_p.E167K	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog	167											0														0.142857	12.861311	19.746021	8	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7612605	7612605	9979	7	G	A	A	A	585	45	MIOS	2	2
ZNF804B	219578	broad.mit.edu	37	7	88847483	88847483	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:88847483G>C	uc011khi.1	+	c.123G>C	c.(121-123)AAG>AAC	p.K41N		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	41						intracellular	zinc ion binding			ovary(5)|pancreas(2)	7	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)											0.083333	1.895683	8.247559	3	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88847483	88847483	18769	7	G	C	C	C	425	33	ZNF804B	3	3
RP1L1	94137	broad.mit.edu	37	8	10467205	10467205	+	Missense_Mutation	SNP	T	G	G			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10467205T>G	uc003wtc.2	-	c.4403A>C	c.(4402-4404)CAG>CCG	p.Q1468P		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1468					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)										0.303571	83.09015	86.95803	34	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10467205	10467205	14012	8	T	G	G	G	715	55	RP1L1	4	4
ZFPM2	23414	broad.mit.edu	37	8	106431460	106431460	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:106431460G>C	uc003ymd.2	+	c.129G>C	c.(127-129)GAG>GAC	p.E43D		NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	43					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)											0.237288	34.883696	38.561828	14	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106431460	106431460	18248	8	G	C	C	C	451	35	ZFPM2	3	3
ZFPM2	23414	broad.mit.edu	37	8	106814836	106814836	+	Silent	SNP	G	T	T			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:106814836G>T	uc003ymd.2	+	c.2526G>T	c.(2524-2526)CGG>CGT	p.R842R	ZFPM2_uc011lhs.1_Silent_p.R573R	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	842					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)											0.357143	11.967162	12.220382	5	9	KEEP	---	---	---	---	capture		Silent	SNP	106814836	106814836	18248	8	G	T	T	T	522	41	ZFPM2	2	2
KCNV1	27012	broad.mit.edu	37	8	110984680	110984680	+	Silent	SNP	G	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110984680G>A	uc003ynr.3	-	c.798C>T	c.(796-798)GAC>GAT	p.D266D	KCNV1_uc010mcw.2_Silent_p.D266D	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	266	Cytoplasmic (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)											0.195652	19.250755	23.221191	9	37	KEEP	---	---	---	---	capture		Silent	SNP	110984680	110984680	8399	8	G	A	A	A	620	48	KCNV1	2	2
TRPS1	7227	broad.mit.edu	37	8	116426804	116426804	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:116426804G>T	uc003yny.2	-	c.3332C>A	c.(3331-3333)CCC>CAC	p.P1111H	TRPS1_uc011lhy.1_Missense_Mutation_p.P1102H|TRPS1_uc010mcy.2_Missense_Mutation_p.P1098H|TRPS1_uc003ynz.2_Missense_Mutation_p.P1098H	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	1098	Mediates interaction with RNF4 (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)						p.P1111H(IGROV1-Tumor)	312				0.358209	62.867343	64.058926	24	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116426804	116426804	17144	8	G	T	T	T	559	43	TRPS1	2	2
ZNF250	58500	broad.mit.edu	37	8	146107103	146107103	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:146107103G>C	uc003zeq.3	-	c.1480C>G	c.(1480-1482)CTG>GTG	p.L494V	COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.3_Missense_Mutation_p.L489V|ZNF250_uc010mgg.2_Missense_Mutation_p.L489V	NM_021061	NP_066405	P15622	ZN250_HUMAN	zinc finger protein 250 isoform a	494	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		NSCLC(16;520 556 24096 40084 43446)								0.263158	13.267522	14.231234	5	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146107103	146107103	18386	8	G	C	C	C	425	33	ZNF250	3	3
FAM160B2	64760	broad.mit.edu	37	8	21951987	21951987	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:21951987G>A	uc011kyx.1	+	c.82G>A	c.(82-84)GAG>AAG	p.E28K	FAM160B2_uc011kyw.1_Missense_Mutation_p.E28K|FAM160B2_uc011kyy.1_Non-coding_Transcript	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	retinoic acid induced 16	28											0														0.346154	50.610874	51.708092	18	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21951987	21951987	5675	8	G	A	A	A	533	41	FAM160B2	2	2
GINS4	84296	broad.mit.edu	37	8	41387758	41387758	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:41387758G>A	uc003xnx.2	+	c.37G>A	c.(37-39)GAT>AAT	p.D13N	GINS4_uc003xny.2_Missense_Mutation_p.D13N	NM_032336	NP_115712	Q9BRT9	SLD5_HUMAN	GINS complex subunit 4	13					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm					0	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)											0.246377	42.031689	46.081573	17	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41387758	41387758	6658	8	G	A	A	A	585	45	GINS4	2	2
CYP7A1	1581	broad.mit.edu	37	8	59409214	59409214	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:59409214G>A	uc003xtm.3	-	c.857C>T	c.(856-858)TCG>TTG	p.S286L		NM_000780	NP_000771	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A,	286					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|oxidation-reduction process|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)												0.286765	105.600528	111.129338	39	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59409214	59409214	4361	8	G	A	A	A	481	37	CYP7A1	1	1
TNKS	8658	broad.mit.edu	37	8	9609136	9609136	+	Silent	SNP	T	G	G			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:9609136T>G	uc003wss.2	+	c.2850T>G	c.(2848-2850)GCT>GCG	p.A950A	TNKS_uc011kww.1_Silent_p.A713A|TNKS_uc010lrt.1_Non-coding_Transcript	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	950					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein transport|spindle assembly|transmembrane transport	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			ovary(1)|kidney(1)	2				COAD - Colon adenocarcinoma(149;0.0467)										0.241379	91.322116	101.985719	42	132	KEEP	---	---	---	---	capture		Silent	SNP	9609136	9609136	16860	8	T	G	G	G	717	56	TNKS	4	4
NDUFA8	4702	broad.mit.edu	37	9	124906576	124906576	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:124906576C>A	uc004blv.2	-	c.463G>T	c.(463-465)GAG>TAG	p.E155*		NM_014222	NP_055037	P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	155					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)	1					NADH(DB00157)									0.548387	56.332786	56.407339	17	14	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	124906576	124906576	10670	9	C	A	A	A	403	31	NDUFA8	5	1
FCN2	2220	broad.mit.edu	37	9	137777710	137777710	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:137777710G>T	uc004cfg.1	+	c.526G>T	c.(526-528)GGG>TGG	p.G176W	FCN2_uc004cfh.1_Missense_Mutation_p.G138W	NM_004108	NP_004099	Q15485	FCN2_HUMAN	ficolin 2 isoform a precursor	176	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			large_intestine(1)	1		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)										0.344828	25.7297	26.351556	10	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137777710	137777710	6029	9	G	T	T	T	559	43	FCN2	2	2
CD72	971	broad.mit.edu	37	9	35611857	35611857	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35611857C>A	uc003zxb.2	-	c.894G>T	c.(892-894)TGG>TGT	p.W298C	CD72_uc003zxc.1_Missense_Mutation_p.W83C|CD72_uc010mkt.1_Missense_Mutation_p.W83C	NM_001782	NP_001773	P21854	CD72_HUMAN	CD72 molecule	298	C-type lectin.|Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity				0			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)									OREG0019172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.428571	52.240426	52.427627	18	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35611857	35611857	3162	9	C	A	A	A	390	30	CD72	2	2
KIAA1432	57589	broad.mit.edu	37	9	5757362	5757362	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:5757362C>A	uc003zji.2	+	c.1666C>A	c.(1666-1668)CGC>AGC	p.R556S	KIAA1432_uc003zjh.2_Missense_Mutation_p.R556S|KIAA1432_uc003zjl.3_Missense_Mutation_p.R519S|KIAA1432_uc003zjj.1_Missense_Mutation_p.R98S	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN	connexin 43-interacting protein 150 isoform a	635						integral to membrane					0		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)										0.051282	-14.07316	19.121586	8	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5757362	5757362	8542	9	C	A	A	A	247	19	KIAA1432	1	1
FLJ46321	389763	broad.mit.edu	37	9	84605787	84605787	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:84605787G>C	uc004amn.2	+	c.402G>C	c.(400-402)AAG>AAC	p.K134N		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	134						integral to membrane					0														0.444444	36.193487	36.266419	12	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84605787	84605787	6174	9	G	C	C	C	425	33	FLJ46321	3	3
PRRG3	79057	broad.mit.edu	37	X	150869297	150869297	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:150869297G>C	uc004few.1	+	c.488G>C	c.(487-489)CGG>CCG	p.R163P		NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3	163	Cytoplasmic (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.5625	52.348948	52.457872	18	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150869297	150869297	13056	23	G	C	C	C	507	39	PRRG3	3	3
CD99	4267	broad.mit.edu	37	X	2635666	2635666	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:2635666A>T	uc004cqm.2	+	c.121A>T	c.(121-123)ACT>TCT	p.T41S	CD99_uc010nda.2_Intron|CD99_uc004cqn.2_Non-coding_Transcript|CD99_uc004cqo.2_Missense_Mutation_p.T41S	NM_002414	NP_002405	P14209	CD99_HUMAN	CD99 antigen isoform a precursor	41	Extracellular (Potential).				cell adhesion	cytoplasm|integral to plasma membrane				skin(1)	1														0.179487	17.404397	21.170272	7	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2635666	2635666	3178	23	A	T	T	T	78	6	CD99	3	3
MAGEE1	57692	broad.mit.edu	37	X	75648900	75648900	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:75648900G>A	uc004ecm.1	+	c.577G>A	c.(577-579)GAT>AAT	p.D193N		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	193	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6														0.333333	14.97047	15.339244	5	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75648900	75648900	9568	23	G	A	A	A	585	45	MAGEE1	2	2
FAM174B	400451	broad.mit.edu	37	15	93198679	93198684	+	In_Frame_Del	DEL	TGGAGC	-	-	rs111725167		TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:93198679_93198684delTGGAGC	uc010boe.2	-	c.206_211delGCTCCA	c.(205-213)AGCTCCAAC>AAC	p.SS69del	FAM174B_uc002bsl.3_Intron	NM_207446	NP_997329	Q3ZCQ3	F174B_HUMAN	hypothetical protein LOC400451	69_70	Extracellular (Potential).					integral to membrane					0														0.50			7	7		---	---	---	---	capture_indel		In_Frame_Del	DEL	93198679	93198684	5702	15	TGGAGC	-	-	-	819	63	FAM174B	5	5
C16orf11	146325	broad.mit.edu	37	16	613941	613942	+	Frame_Shift_Ins	INS	-	C	C			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:613941_613942insC	uc002chk.2	+	c.647_648insC	c.(646-648)AGCfs	p.S216fs		NM_145270	NP_660313	P0CG20	CP011_HUMAN	hypothetical protein LOC146325	216	Pro-rich.									central_nervous_system(1)	1														0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	613941	613942	1862	16	-	C	C	C	442	34	C16orf11	5	5
KCNN3	3782	broad.mit.edu	37	1	154842199	154842200	+	In_Frame_Ins	INS	-	GCTGCT	GCTGCT	rs67752396		TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:154842199_154842200insGCTGCT	uc001ffp.2	-	c.241_242insAGCAGC	c.(241-243)CCA>CAGCAGCCA	p.80_81insQQ	KCNN3_uc009wox.1_In_Frame_Ins_p.80_81insQQ	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	small conductance calcium-activated potassium	80_86						integral to membrane	calmodulin binding			lung(1)	1	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)											0.50			5	5		---	---	---	---	capture_indel		In_Frame_Ins	INS	154842199	154842200	8385	1	-	GCTGCT	GCTGCT	GCTGCT	611	47	KCNN3	5	5
PLAC4	191585	broad.mit.edu	37	21	42551272	42551272	+	Frame_Shift_Del	DEL	C	-	-			TCGA-50-5936-01	TCGA-50-5936-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:42551272_42551272delC	uc002yyz.2	-	c.284_284delG	c.(283-285)GGAfs	p.G95fs	BACE2_uc002yyw.2_Intron|BACE2_uc002yyx.2_Intron|BACE2_uc002yyy.2_Intron	NM_182832	NP_878252	Q8WY50	PLAC4_HUMAN	placenta-specific 4	95											0		Prostate(19;2.29e-06)												0.38			3	5		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	42551272	42551272	12440	21	C	-	-	-	390	30	PLAC4	5	5
