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
CPN1	1369	broad.mit.edu	37	10	101829549	101829549	+	Silent	SNP	G	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:101829549G>T	uc001kql.2	-	c.498C>A	c.(496-498)CTC>CTA	p.L166L		NM_001308	NP_001299	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1 precursor	166	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(3)|pancreas(1)	4		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)										0.393939	75.548222	76.193691	26	40	KEEP	---	---	---	---	capture		Silent	SNP	101829549	101829549	3947	10	G	T	T	T	574	45	CPN1	2	2
C10orf96	374355	broad.mit.edu	37	10	118138000	118138001	+	Missense_Mutation	DNP	CA	AG	AG			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118138000_118138001CA>AG	uc001lck.2	+	c.719_720CA>AG	c.(718-720)ACA>AAG	p.T240K		NM_198515	NP_940917	P0C7W6	CJ096_HUMAN	hypothetical protein LOC374355	240	Potential.									ovary(2)	2		Lung NSC(174;0.204)|all_lung(145;0.248)		all cancers(201;0.014)										0.454545	17.0742	17.093956	5	6	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	118138000	118138001	1664	10	CA	AG	AG	AG	221	17	C10orf96	2	2
RAB11FIP2	22841	broad.mit.edu	37	10	119805399	119805399	+	Silent	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:119805399C>A	uc009xyz.1	-	c.276G>T	c.(274-276)GTG>GTT	p.V92V	RAB11FIP2_uc001ldj.1_Silent_p.V92V|CASC2_uc001ldm.3_5'Flank|CASC2_uc009xzc.2_5'Flank|CASC2_uc001ldk.2_5'Flank|CASC2_uc009xza.2_5'Flank|CASC2_uc009xzb.2_5'Flank	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2	92	C2.|Necessary for its cellular translocation to the plasma membrane.				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity				0		Colorectal(252;0.235)		all cancers(201;0.0238)										0.277778	13.867222	14.666988	5	13	KEEP	---	---	---	---	capture		Silent	SNP	119805399	119805399	13353	10	C	A	A	A	262	21	RAB11FIP2	2	2
UPF2	26019	broad.mit.edu	37	10	12043820	12043820	+	Silent	SNP	T	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:12043820T>A	uc001ila.2	-	c.1509A>T	c.(1507-1509)GCA>GCT	p.A503A	UPF2_uc001ilb.2_Silent_p.A503A|UPF2_uc001ilc.2_Silent_p.A503A|UPF2_uc009xiz.1_Silent_p.A503A	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	503	Potential.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)												0.25	8.319322	9.000946	3	9	KEEP	---	---	---	---	capture		Silent	SNP	12043820	12043820	17564	10	T	A	A	A	808	63	UPF2	3	3
PTER	9317	broad.mit.edu	37	10	16526695	16526695	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:16526695C>A	uc001iog.1	+	c.312C>A	c.(310-312)AGC>AGA	p.S104R	PTER_uc001ioh.1_Missense_Mutation_p.S104R|PTER_uc001ioi.1_Missense_Mutation_p.S104R|PTER_uc009xjp.1_Missense_Mutation_p.S104R	NM_030664	NP_109589	Q96BW5	PTER_HUMAN	phosphotriesterase related	104					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			ovary(2)	2						Ovarian(2;46 150 15648 38137 47908)								0.203704	23.296729	27.696449	11	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16526695	16526695	13193	10	C	A	A	A	337	26	PTER	2	2
GJD4	219770	broad.mit.edu	37	10	35896885	35896885	+	Silent	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:35896885C>A	uc001iyy.1	+	c.444C>A	c.(442-444)CTC>CTA	p.L148L		NM_153368	NP_699199	Q96KN9	CXD4_HUMAN	connexin40.1	148	Helical; (Potential).				cell communication	connexon complex|integral to membrane				large_intestine(2)|central_nervous_system(1)|pancreas(1)	4														0.6	8.82538	8.86903	3	2	KEEP	---	---	---	---	capture		Silent	SNP	35896885	35896885	6687	10	C	A	A	A	379	30	GJD4	2	2
PCDH15	65217	broad.mit.edu	37	10	55581630	55581630	+	Silent	SNP	A	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:55581630A>C	uc010qhy.1	-	c.5877T>G	c.(5875-5877)TCT>TCG	p.S1959S	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Silent_p.S806S|PCDH15_uc010qhv.1_Silent_p.S1949S|PCDH15_uc010qhw.1_Silent_p.S1912S|PCDH15_uc010qhx.1_Silent_p.S1883S|PCDH15_uc010qhz.1_Silent_p.S1954S|PCDH15_uc010qia.1_Silent_p.S1932S|PCDH15_uc001jju.1_Silent_p.S1952S|PCDH15_uc010qib.1_Silent_p.S1929S	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-1 precursor	1952	Cytoplasmic (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)	9		Melanoma(3;0.117)|Lung SC(717;0.238)								1612				0.607843	101.43418	101.953717	31	20	KEEP	---	---	---	---	capture		Silent	SNP	55581630	55581630	11931	10	A	C	C	C	184	15	PCDH15	4	4
LRRC20	55222	broad.mit.edu	37	10	72061136	72061136	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:72061136C>A	uc001jqx.1	-	c.529G>T	c.(529-531)GAA>TAA	p.E177*	LRRC20_uc001jqy.1_Nonsense_Mutation_p.E121*|LRRC20_uc001jqz.1_Nonsense_Mutation_p.E127*	NM_207119	NP_997002	Q8TCA0	LRC20_HUMAN	leucine rich repeat containing 20 isoform 1	177											0														0.177778	29.442133	38.168697	16	74	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	72061136	72061136	9351	10	C	A	A	A	390	30	LRRC20	5	2
ANXA7	310	broad.mit.edu	37	10	75157963	75157963	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:75157963C>A	uc001jtz.2	-	c.235G>T	c.(235-237)GGG>TGG	p.G79W	ANXA7_uc001jua.2_Missense_Mutation_p.G79W|ANXA7_uc001jub.2_Missense_Mutation_p.G39W|ANXA7_uc010qki.1_Intron|ANXA7_uc009xre.2_Intron|ANXA7_uc009xrf.1_Intron	NM_004034	NP_004025	P20073	ANXA7_HUMAN	annexin VII isoform 2	79	Repeat-rich region.						calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			ovary(2)|central_nervous_system(1)	3	Prostate(51;0.0119)													0.119048	4.839625	10.838989	5	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75157963	75157963	731	10	C	A	A	A	312	24	ANXA7	2	2
NNMT	4837	broad.mit.edu	37	11	114182962	114182962	+	Silent	SNP	A	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:114182962A>T	uc001por.1	+	c.558A>T	c.(556-558)CTA>CTT	p.L186L	NNMT_uc001pos.1_Silent_p.L186L	NM_006169	NP_006160	P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	186					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			ovary(1)	1		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)									0.32	21.895105	22.612701	8	17	KEEP	---	---	---	---	capture		Silent	SNP	114182962	114182962	10912	11	A	T	T	T	171	14	NNMT	3	3
FAM55D	54827	broad.mit.edu	37	11	114442052	114442052	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:114442052A>T	uc001ppc.2	-	c.1243T>A	c.(1243-1245)TAC>AAC	p.Y415N	FAM55D_uc001ppd.2_Missense_Mutation_p.Y131N	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	hypothetical protein LOC54827 isoform 1	415						extracellular region				ovary(2)	2		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)										0.182609	42.035448	52.893015	21	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114442052	114442052	5809	11	A	T	T	T	182	14	FAM55D	3	3
OR8D2	283160	broad.mit.edu	37	11	124189502	124189502	+	Silent	SNP	G	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124189502G>A	uc010sah.1	-	c.592C>T	c.(592-594)CTG>TTG	p.L198L		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D,	198	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|pancreas(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)										0.285714	90.055226	94.669198	32	80	KEEP	---	---	---	---	capture		Silent	SNP	124189502	124189502	11643	11	G	A	A	A	425	33	OR8D2	2	2
COPB1	1315	broad.mit.edu	37	11	14496148	14496148	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:14496148C>A	uc001mli.2	-	c.1630G>T	c.(1630-1632)GGA>TGA	p.G544*	COPB1_uc001mlg.2_Nonsense_Mutation_p.G544*|COPB1_uc001mlh.2_Nonsense_Mutation_p.G544*	NM_016451	NP_057535	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	544					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(1)|central_nervous_system(1)	2														0.150685	37.062914	54.128334	22	124	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	14496148	14496148	3866	11	C	A	A	A	312	24	COPB1	5	2
SAAL1	113174	broad.mit.edu	37	11	18112007	18112007	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:18112007G>C	uc009yhf.2	-	c.447C>G	c.(445-447)GAC>GAG	p.D149E	SAAL1_uc001mnq.2_Missense_Mutation_p.D149E|SAAL1_uc001mnr.2_Missense_Mutation_p.D149E|SAAL1_uc001mns.2_Non-coding_Transcript	NM_138421	NP_612430	Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	149					acute-phase response	extracellular region	binding				0														0.157895	5.714434	7.833464	3	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18112007	18112007	14281	11	G	C	C	C	568	44	SAAL1	3	3
NLRP6	171389	broad.mit.edu	37	11	282701	282701	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:282701G>T	uc010qvs.1	+	c.2106_splice	c.e5-1	p.S702_splice	NLRP6_uc010qvt.1_Intron	NM_138329	NP_612202			NLR family, pyrin domain containing 6							cytoplasm	ATP binding			upper_aerodigestive_tract(1)|skin(1)	2		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)						236				0.470588	24.198538	24.211346	8	9	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	282701	282701	10884	11	G	T	T	T	442	34	NLRP6	5	2
OR5D14	219436	broad.mit.edu	37	11	55563066	55563066	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55563066C>T	uc010rim.1	+	c.35C>T	c.(34-36)CCC>CTC	p.P12L		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	12	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)												0.04878	-9.561832	8.173991	4	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55563066	55563066	11565	11	C	T	T	T	286	22	OR5D14	2	2
OR5D14	219436	broad.mit.edu	37	11	55563948	55563948	+	Nonsense_Mutation	SNP	T	G	G			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55563948T>G	uc010rim.1	+	c.917T>G	c.(916-918)TTA>TGA	p.L306*		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	306	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)												0.333333	18.445722	18.887672	6	12	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	55563948	55563948	11565	11	T	G	G	G	793	61	OR5D14	5	4
OR5D18	219438	broad.mit.edu	37	11	55587309	55587309	+	Silent	SNP	C	G	G			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55587309C>G	uc010rin.1	+	c.204C>G	c.(202-204)TCC>TCG	p.S68S		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	68	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)												0.255814	101.146807	110.517351	44	128	KEEP	---	---	---	---	capture		Silent	SNP	55587309	55587309	11567	11	C	G	G	G	301	24	OR5D18	3	3
OR5L2	26338	broad.mit.edu	37	11	55595206	55595206	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55595206C>A	uc001nhy.1	+	c.512C>A	c.(511-513)TCT>TAT	p.S171Y		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L,	171	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)												0.259615	129.365769	140.244637	54	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55595206	55595206	11581	11	C	A	A	A	416	32	OR5L2	2	2
OR5J2	282775	broad.mit.edu	37	11	55944493	55944493	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55944493G>C	uc010rjb.1	+	c.400G>C	c.(400-402)GTA>CTA	p.V134L		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	134	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4	Esophageal squamous(21;0.00693)													0.16	12.290053	17.809042	8	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55944493	55944493	11575	11	G	C	C	C	624	48	OR5J2	3	3
OR5M11	219487	broad.mit.edu	37	11	56310716	56310716	+	Silent	SNP	G	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56310716G>T	uc010rjl.1	-	c.18C>A	c.(16-18)GGC>GGA	p.G6G		NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M,	6	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.260417	62.435478	67.429705	25	71	KEEP	---	---	---	---	capture		Silent	SNP	56310716	56310716	11584	11	G	T	T	T	587	46	OR5M11	2	2
OR10Q1	219960	broad.mit.edu	37	11	57995621	57995621	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57995621A>G	uc010rkd.1	-	c.727T>C	c.(727-729)TTC>CTC	p.F243L		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q,	243	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(21;0.0589)												0.191489	19.044498	23.231173	9	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57995621	57995621	11322	11	A	G	G	G	39	3	OR10Q1	4	4
OR5A2	219981	broad.mit.edu	37	11	59189969	59189969	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59189969C>G	uc010rkt.1	-	c.458G>C	c.(457-459)GGA>GCA	p.G153A		NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A,	153	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.119403	11.852974	21.378098	8	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59189969	59189969	11550	11	C	G	G	G	390	30	OR5A2	3	3
PANX1	24145	broad.mit.edu	37	11	93886744	93886744	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:93886744A>G	uc001per.2	+	c.269A>G	c.(268-270)CAG>CGG	p.Q90R	PANX1_uc001peq.2_Missense_Mutation_p.Q90R	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	pannexin 1	90	Extracellular (Potential).				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)												0.15625	9.553909	13.163909	5	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93886744	93886744	11837	11	A	G	G	G	91	7	PANX1	4	4
SLC5A8	160728	broad.mit.edu	37	12	101577946	101577946	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:101577946G>C	uc001thz.3	-	c.1018C>G	c.(1018-1020)CTT>GTT	p.L340V		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	solute carrier family 5 (iodide transporter),	340	Helical; (Potential).				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity				0						GBM(60;420 1056 13605 22380 47675)								0.16	18.572638	24.071642	8	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101577946	101577946	15168	12	G	C	C	C	468	36	SLC5A8	3	3
RIMBP2	23504	broad.mit.edu	37	12	130941203	130941203	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:130941203C>A	uc001uil.2	-	c.145G>T	c.(145-147)GAG>TAG	p.E49*	RIMBP2_uc001uim.2_5'UTR	NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	49						cell junction|synapse				ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	8	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)										0.25	9.491174	10.401157	4	12	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	130941203	130941203	13838	12	C	A	A	A	377	29	RIMBP2	5	2
EP400	57634	broad.mit.edu	37	12	132498035	132498035	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:132498035C>G	uc001ujn.2	+	c.3612C>G	c.(3610-3612)AGC>AGG	p.S1204R	EP400_uc001ujl.2_Missense_Mutation_p.S1203R|EP400_uc001ujm.2_Missense_Mutation_p.S1204R	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1240	Interactions with RUVBL1 and RUVBL2.|Helicase ATP-binding.				histone H2A acetylation|histone H4 acetylation	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)										0.306452	50.79907	52.872476	19	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132498035	132498035	5342	12	C	G	G	G	337	26	EP400	3	3
GRIN2B	2904	broad.mit.edu	37	12	13717204	13717204	+	Silent	SNP	G	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:13717204G>T	uc001rbt.2	-	c.2968C>A	c.(2968-2970)CGG>AGG	p.R990R		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	990	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|lung(2)|skin(1)	10					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)					371				0.30137	62.490245	65.024531	22	51	KEEP	---	---	---	---	capture		Silent	SNP	13717204	13717204	7059	12	G	T	T	T	506	39	GRIN2B	1	1
ITPR2	3709	broad.mit.edu	37	12	26818887	26818887	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:26818887G>A	uc001rhg.2	-	c.1507C>T	c.(1507-1509)CGA>TGA	p.R503*		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	503	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	13	Colorectal(261;0.0847)								p.R503*(HEC6-Tumor)	1600				0.230769	15.940701	17.664639	6	20	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	26818887	26818887	8225	12	G	A	A	A	506	39	ITPR2	5	1
SLC6A12	6539	broad.mit.edu	37	12	311924	311924	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:311924T>C	uc001qhz.2	-	c.472A>G	c.(472-474)AAC>GAC	p.N158D	SLC6A12_uc001qia.2_Missense_Mutation_p.N158D|SLC6A12_uc001qib.2_Missense_Mutation_p.N158D|SLC6A12_uc009zdh.1_Missense_Mutation_p.N158D|SLC6A12_uc009zdi.1_Non-coding_Transcript	NM_003044	NP_003035	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter	158	Extracellular (Potential).				cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)											0.292683	28.081577	29.66097	12	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	311924	311924	15172	12	T	C	C	C	819	63	SLC6A12	4	4
DENND5B	160518	broad.mit.edu	37	12	31633142	31633142	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:31633142T>G	uc001rkh.1	-	c.390A>C	c.(388-390)AAA>AAC	p.K130N	DENND5B_uc001rki.1_Missense_Mutation_p.K95N|DENND5B_uc009zjq.1_Missense_Mutation_p.K14N|DENND5B_uc001rkj.2_Missense_Mutation_p.K117N|DENND5B_uc001rkk.1_Missense_Mutation_p.K17N	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	95	UDENN.					integral to membrane				ovary(1)|central_nervous_system(1)	2														0.133333	6.879695	10.793628	4	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31633142	31633142	4616	12	T	G	G	G	725	56	DENND5B	4	4
LRRK2	120892	broad.mit.edu	37	12	40761466	40761466	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:40761466G>T	uc001rmg.3	+	c.7483G>T	c.(7483-7485)GTT>TTT	p.V2495F	LRRK2_uc009zjw.2_Missense_Mutation_p.V1333F|LRRK2_uc001rmi.2_3'UTR	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2495					activation of MAPKK activity|determination of adult lifespan|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(11)|lung(2)|upper_aerodigestive_tract(1)|large_intestine(1)|stomach(1)|urinary_tract(1)|pancreas(1)	18	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)							p.V2495I(SNU175-Tumor)|p.V2495I(NCIH1105-Tumor)	1771				0.266667	11.194161	11.931197	4	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40761466	40761466	9409	12	G	T	T	T	520	40	LRRK2	1	1
VDR	7421	broad.mit.edu	37	12	48240466	48240466	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:48240466T>A	uc001rql.2	-	c.1031A>T	c.(1030-1032)AAG>ATG	p.K344M	VDR_uc001rqm.2_Missense_Mutation_p.K294M|VDR_uc001rqn.2_Missense_Mutation_p.K294M|VDR_uc010slq.1_Missense_Mutation_p.K262M	NM_001017535	NP_001017535	P11473	VDR_HUMAN	vitamin D (1,25-dihydroxyvitamin D3) receptor	294	Ligand-binding.				decidualization|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)					190				0.24	28.974535	32.060478	12	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48240466	48240466	17716	12	T	A	A	A	728	56	VDR	3	3
NEUROD4	58158	broad.mit.edu	37	12	55420509	55420509	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55420509G>A	uc001sgp.3	+	c.286G>A	c.(286-288)GAA>AAA	p.E96K		NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	neurogenic differentiation 4	96	Basic motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription regulator activity			ovary(3)	3														0.233333	83.263831	93.019958	35	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55420509	55420509	10750	12	G	A	A	A	429	33	NEUROD4	2	2
ZBTB39	9880	broad.mit.edu	37	12	57396734	57396734	+	Silent	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57396734C>A	uc001sml.1	-	c.1968G>T	c.(1966-1968)TCG>TCT	p.S656S	RDH16_uc010sqx.1_5'Flank	NM_014830	NP_055645	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	656					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1														0.314607	78.569611	81.290376	28	61	KEEP	---	---	---	---	capture		Silent	SNP	57396734	57396734	18126	12	C	A	A	A	288	23	ZBTB39	1	1
GDF3	9573	broad.mit.edu	37	12	7843254	7843254	+	Silent	SNP	C	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:7843254C>T	uc001qte.2	-	c.315G>A	c.(313-315)CTG>CTA	p.L105L		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	growth differentiation factor 3 precursor	105					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			skin(2)|ovary(1)|lung(1)|central_nervous_system(1)	5														0.127273	6.67383	14.160348	7	48	KEEP	---	---	---	---	capture		Silent	SNP	7843254	7843254	6583	12	C	T	T	T	314	25	GDF3	2	2
IKBIP	121457	broad.mit.edu	37	12	99019977	99019977	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:99019977C>G	uc001tfx.2	-	c.865G>C	c.(865-867)GAT>CAT	p.D289H	IKBIP_uc001tfv.2_Intron|IKBIP_uc001tfw.2_Intron	NM_153687	NP_710154	Q70UQ0	IKIP_HUMAN	IKK interacting protein isoform 1	290					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding				0														0.384615	16.372576	16.52408	5	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99019977	99019977	7910	12	C	G	G	G	390	30	IKBIP	3	3
MYO16	23026	broad.mit.edu	37	13	109507808	109507808	+	Silent	SNP	T	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:109507808T>C	uc010agk.1	+	c.1266T>C	c.(1264-1266)CCT>CCC	p.P422P	MYO16_uc001vqt.1_Silent_p.P400P|MYO16_uc001vqu.1_Silent_p.P200P	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	400					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(5)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	9	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)											0.192308	25.019146	29.616532	10	42	KEEP	---	---	---	---	capture		Silent	SNP	109507808	109507808	10459	13	T	C	C	C	704	55	MYO16	4	4
COL4A1	1282	broad.mit.edu	37	13	110814736	110814736	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:110814736C>A	uc001vqw.3	-	c.4303G>T	c.(4303-4305)GGG>TGG	p.G1435W	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1435	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)											0.38961	251.115257	253.50414	90	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110814736	110814736	3827	13	C	A	A	A	286	22	COL4A1	2	2
C13orf31	144811	broad.mit.edu	37	13	44455589	44455589	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:44455589A>T	uc010acg.2	+	c.468A>T	c.(466-468)GAA>GAT	p.E156D	CCDC122_uc010acf.2_5'Flank|C13orf31_uc001uzf.3_Missense_Mutation_p.E156D	NM_001128303	NP_001121775	Q8IV20	CM031_HUMAN	hypothetical protein LOC144811	156											0		Lung NSC(96;0.000163)|all_hematologic(4;0.0127)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Breast(139;0.0364)|Lung SC(185;0.0367)|Acute lymphoblastic leukemia(4;0.138)		GBM - Glioblastoma multiforme(144;0.000573)|BRCA - Breast invasive adenocarcinoma(63;0.121)										0.146341	9.123138	14.052979	6	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44455589	44455589	1773	13	A	T	T	T	24	2	C13orf31	3	3
DOCK9	23348	broad.mit.edu	37	13	99462449	99462449	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:99462449T>C	uc001vnt.2	-	c.5230A>G	c.(5230-5232)ATT>GTT	p.I1744V	DOCK9_uc001vnw.2_Missense_Mutation_p.I1743V|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Missense_Mutation_p.I1721V|DOCK9_uc001vnq.2_Missense_Mutation_p.I293V|DOCK9_uc001vnr.2_Missense_Mutation_p.I387V|DOCK9_uc010tin.1_Missense_Mutation_p.I364V|DOCK9_uc001vns.2_Missense_Mutation_p.I293V|DOCK9_uc010tio.1_Missense_Mutation_p.I413V|DOCK9_uc010tip.1_Missense_Mutation_p.I454V|DOCK9_uc001vnu.1_Missense_Mutation_p.I293V|DOCK9_uc010tiq.1_Missense_Mutation_p.I699V	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1744	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)													0.456897	162.462388	162.649941	53	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99462449	99462449	4878	13	T	C	C	C	663	51	DOCK9	4	4
ZNF839	55778	broad.mit.edu	37	14	102792955	102792955	+	Silent	SNP	C	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:102792955C>T	uc010awk.1	+	c.922C>T	c.(922-924)CTG>TTG	p.L308L	ZNF839_uc001ylo.2_Silent_p.L192L|ZNF839_uc001ylp.2_Non-coding_Transcript|ZNF839_uc001ylq.1_Silent_p.L192L|ZNF839_uc001ylr.2_Silent_p.L192L	NM_018335	NP_060805	A8K0R7	ZN839_HUMAN	zinc finger protein 839	192						intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)	2														0.270833	36.699181	38.944623	13	35	KEEP	---	---	---	---	capture		Silent	SNP	102792955	102792955	18788	14	C	T	T	T	311	24	ZNF839	2	2
OR4K17	390436	broad.mit.edu	37	14	20586108	20586108	+	Silent	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20586108C>A	uc001vwo.1	+	c.543C>A	c.(541-543)CTC>CTA	p.L181L		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K,	153	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)										0.383721	90.851308	91.871795	33	53	KEEP	---	---	---	---	capture		Silent	SNP	20586108	20586108	11481	14	C	A	A	A	405	32	OR4K17	2	2
MYH6	4624	broad.mit.edu	37	14	23858085	23858085	+	Silent	SNP	C	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23858085C>T	uc001wjv.2	-	c.4158G>A	c.(4156-4158)GAG>GAA	p.E1386E	MIR208A_hsa-mir-208a|MI0000251_5'Flank	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1386	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)	3	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)										0.318681	86.988389	89.623275	29	62	KEEP	---	---	---	---	capture		Silent	SNP	23858085	23858085	10433	14	C	T	T	T	311	24	MYH6	2	2
SERPINA11	256394	broad.mit.edu	37	14	94914752	94914753	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94914752_94914753CC>AA	uc001ydd.1	-	c.359_360GG>TT	c.(358-360)CGG>CTT	p.R120L		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1	120					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)	1				COAD - Colon adenocarcinoma(157;0.211)										0.355932	179.01572	182.234533	63	114	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	94914752	94914753	14576	14	CC	AA	AA	AA	379	30	SERPINA11	2	2
TLN2	83660	broad.mit.edu	37	15	63040641	63040641	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:63040641G>A	uc002alb.3	+	c.4117G>A	c.(4117-4119)GAG>AAG	p.E1373K	TLN2_uc002alc.3_5'UTR	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1373					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cell-cell junction|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(4)|breast(2)	6														0.197183	29.305585	35.374451	14	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63040641	63040641	16478	15	G	A	A	A	481	37	TLN2	1	1
IGDCC3	9543	broad.mit.edu	37	15	65667437	65667437	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:65667437G>T	uc002aos.2	-	c.407C>A	c.(406-408)GCA>GAA	p.A136E		NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	putative neuronal cell adhesion molecule	136	Extracellular (Potential).|Ig-like C2-type 1.									ovary(3)	3														0.288462	39.100436	41.188874	15	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65667437	65667437	7869	15	G	T	T	T	598	46	IGDCC3	2	2
CCDC33	80125	broad.mit.edu	37	15	74574148	74574148	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:74574148G>T	uc002axo.2	+	c.1053G>T	c.(1051-1053)GAG>GAT	p.E351D	CCDC33_uc002axp.2_Missense_Mutation_p.E173D	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33 isoform 1	554							protein binding			ovary(3)	3														0.238636	52.429027	57.920123	21	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74574148	74574148	2928	15	G	T	T	T	451	35	CCDC33	2	2
WDR73	84942	broad.mit.edu	37	15	85197493	85197493	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:85197493C>A	uc002bkw.2	-	c.13G>T	c.(13-15)GAC>TAC	p.D5Y	WDR73_uc002bkv.2_5'Flank|WDR73_uc002bkx.2_Non-coding_Transcript|WDR73_uc010upa.1_Missense_Mutation_p.D5Y	NM_032856	NP_116245	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	5											0														0.271186	38.472323	41.259399	16	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85197493	85197493	17896	15	C	A	A	A	390	30	WDR73	2	2
XYLT1	64131	broad.mit.edu	37	16	17352994	17352994	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:17352994G>A	uc002dfa.2	-	c.764C>T	c.(763-765)CCT>CTT	p.P255L		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	255	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4														0.135802	32.312991	53.189887	22	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17352994	17352994	18046	16	G	A	A	A	455	35	XYLT1	2	2
DNAH3	55567	broad.mit.edu	37	16	21051240	21051240	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:21051240A>G	uc010vbe.1	-	c.4664T>C	c.(4663-4665)ATG>ACG	p.M1555T		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1555	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(10)|large_intestine(2)|central_nervous_system(2)	14				GBM - Glioblastoma multiforme(48;0.207)										0.311258	134.474196	139.261946	47	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21051240	21051240	4786	16	A	G	G	G	104	8	DNAH3	4	4
KCTD19	146212	broad.mit.edu	37	16	67354623	67354623	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67354623C>G	uc002esu.2	-	c.169G>C	c.(169-171)GAC>CAC	p.D57H	KCTD19_uc002est.2_5'UTR|KCTD19_uc010vjj.1_5'UTR	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	potassium channel tetramerisation domain	57	BTB 1.					voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)										0.204545	23.361029	26.916438	9	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67354623	67354623	8412	16	C	G	G	G	403	31	KCTD19	3	3
FOXL1	2300	broad.mit.edu	37	16	86612429	86612429	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:86612429C>T	uc002fjr.2	+	c.100C>T	c.(100-102)CCC>TCC	p.P34S		NM_005250	NP_005241	Q12952	FOXL1_HUMAN	forkhead box L1	34					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|negative regulation of gene-specific transcription from RNA polymerase II promoter|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						NSCLC(163;308 2020 10889 11476 18208)								0.35	20.720873	21.117038	7	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86612429	86612429	6262	16	C	T	T	T	286	22	FOXL1	2	2
MYH13	8735	broad.mit.edu	37	17	10209812	10209812	+	Silent	SNP	C	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10209812C>T	uc002gmk.1	-	c.5430G>A	c.(5428-5430)AAG>AAA	p.K1810K		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1810	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)	4														0.27027	134.3633	143.174956	50	135	KEEP	---	---	---	---	capture		Silent	SNP	10209812	10209812	10427	17	C	T	T	T	311	24	MYH13	2	2
MYO1D	4642	broad.mit.edu	37	17	30932130	30932130	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:30932130C>A	uc002hho.1	-	c.2839G>T	c.(2839-2841)GGA>TGA	p.G947*	MYO1D_uc002hhp.1_Nonsense_Mutation_p.G947*	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	947						myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)											0.24	14.437133	15.980067	6	19	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	30932130	30932130	10466	17	C	A	A	A	273	21	MYO1D	5	2
DNAH2	146754	broad.mit.edu	37	17	7701482	7701482	+	Silent	SNP	G	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7701482G>T	uc002giu.1	+	c.8238G>T	c.(8236-8238)CGG>CGT	p.R2746R		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	2746	AAA 4 (By similarity).|TPR 2.				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|central_nervous_system(1)	7		all_cancers(10;4.66e-07)|Prostate(122;0.081)												0.051948	-8.664723	7.686263	4	73	KEEP	---	---	---	---	capture		Silent	SNP	7701482	7701482	4785	17	G	T	T	T	522	41	DNAH2	2	2
CHD3	1107	broad.mit.edu	37	17	7801419	7801419	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7801419C>T	uc002gjd.2	+	c.2227C>T	c.(2227-2229)CGA>TGA	p.R743*	CHD3_uc002gje.2_Nonsense_Mutation_p.R684*|CHD3_uc002gjf.2_Nonsense_Mutation_p.R684*|CHD3_uc002gjg.1_3'UTR	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	684					chromatin assembly or disassembly|chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	chromatin|microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|chromatin binding|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)												0.364964	148.406536	150.606035	50	87	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	7801419	7801419	3460	17	C	T	T	T	295	23	CHD3	5	1
TRAPPC1	58485	broad.mit.edu	37	17	7834428	7834428	+	Silent	SNP	T	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7834428T>C	uc002gjo.1	-	c.210A>G	c.(208-210)AAA>AAG	p.K70K	KCNAB3_uc002gjm.1_5'Flank|KCNAB3_uc010vul.1_5'Flank|CNTROB_uc002gjp.2_5'Flank|CNTROB_uc002gjq.2_5'Flank	NM_021210	NP_067033	Q9Y5R8	TPPC1_HUMAN	trafficking protein particle complex 1	70					ER to Golgi vesicle-mediated transport	endoplasmic reticulum					0		Prostate(122;0.173)												0.357143	28.968862	29.50306	10	18	KEEP	---	---	---	---	capture		Silent	SNP	7834428	7834428	17000	17	T	C	C	C	777	60	TRAPPC1	4	4
WDR16	146845	broad.mit.edu	37	17	9538770	9538770	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:9538770C>A	uc002gly.2	+	c.1369C>A	c.(1369-1371)CTG>ATG	p.L457M	WDR16_uc002glz.2_Missense_Mutation_p.L389M|WDR16_uc010coc.2_Missense_Mutation_p.L467M	NM_145054	NP_659491	Q8N1V2	WDR16_HUMAN	WD40-repeat protein upregulated in HCC isoform	457						cytoplasm|intracellular membrane-bounded organelle	protein binding			ovary(1)	1														0.34375	27.508714	28.20169	11	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9538770	9538770	17849	17	C	A	A	A	311	24	WDR16	2	2
DSG1	1828	broad.mit.edu	37	18	28908227	28908227	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:28908227G>A	uc002kwp.2	+	c.292G>A	c.(292-294)GGG>AGG	p.G98R		NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	98	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			ovary(2)|central_nervous_system(2)	4			OV - Ovarian serous cystadenocarcinoma(10;0.00559)											0.173913	7.584209	9.894727	4	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28908227	28908227	4960	18	G	A	A	A	611	47	DSG1	2	2
DSG2	1829	broad.mit.edu	37	18	29122617	29122617	+	Silent	SNP	C	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:29122617C>T	uc002kwu.3	+	c.2136C>T	c.(2134-2136)TCC>TCT	p.S712S		NM_001943	NP_001934	Q14126	DSG2_HUMAN	desmoglein 2 preproprotein	712	Cytoplasmic (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(2)|breast(1)	8			OV - Ovarian serous cystadenocarcinoma(10;0.0068)											0.234568	49.13774	54.321367	19	62	KEEP	---	---	---	---	capture		Silent	SNP	29122617	29122617	4961	18	C	T	T	T	288	23	DSG2	1	1
C18orf34	374864	broad.mit.edu	37	18	30672865	30672865	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:30672865C>A	uc010xbr.1	-	c.2248G>T	c.(2248-2250)GCT>TCT	p.A750S	C18orf34_uc010xbq.1_Intron|C18orf34_uc010dme.1_Intron|C18orf34_uc002kxn.2_Missense_Mutation_p.A750S|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.A712S|C18orf34_uc002kxp.2_Missense_Mutation_p.A750S	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	750										ovary(1)	1														0.2	6.816659	8.072046	3	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30672865	30672865	1963	18	C	A	A	A	364	28	C18orf34	2	2
MRO	83876	broad.mit.edu	37	18	48325711	48325711	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:48325711A>C	uc010dpa.2	-	c.785T>G	c.(784-786)CTG>CGG	p.L262R	MRO_uc010xdn.1_Missense_Mutation_p.L196R|MRO_uc002lew.3_Missense_Mutation_p.L248R|MRO_uc010dpb.2_Missense_Mutation_p.L210R|MRO_uc010dpc.2_Missense_Mutation_p.L196R|MRO_uc002lex.3_Missense_Mutation_p.L248R	NM_001127176	NP_001120648	Q9BYG7	MSTRO_HUMAN	maestro isoform d	248						nucleolus	binding				0		Colorectal(6;0.0596)		Colorectal(21;0.082)										0.109375	8.37672	18.048057	7	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48325711	48325711	10165	18	A	C	C	C	91	7	MRO	4	4
ALPK2	115701	broad.mit.edu	37	18	56204135	56204135	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:56204135A>T	uc002lhj.3	-	c.3284T>A	c.(3283-3285)TTC>TAC	p.F1095Y	ALPK2_uc002lhk.1_Missense_Mutation_p.F426Y	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	1095					protein phosphorylation		ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11										343				0.18018	37.14003	47.813191	20	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56204135	56204135	548	18	A	T	T	T	117	9	ALPK2	3	3
KEAP1	9817	broad.mit.edu	37	19	10602799	10602799	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10602799C>A	uc002moq.1	-	c.779G>T	c.(778-780)CGA>CTA	p.R260L	KEAP1_uc002mop.1_5'UTR|KEAP1_uc002mor.1_Missense_Mutation_p.R260L	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	260	BACK.				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)											0.444444	24.898679	24.946878	8	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10602799	10602799	8447	19	C	A	A	A	403	31	KEAP1	1	1
ZNF709	163051	broad.mit.edu	37	19	12575977	12575977	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:12575977T>G	uc002mtv.3	-	c.759A>C	c.(757-759)GAA>GAC	p.E253D	ZNF709_uc002mtw.3_Missense_Mutation_p.E221D|ZNF709_uc002mtx.3_Missense_Mutation_p.E253D	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	zinc finger protein 709 isoform a	253	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GBM(33;565 669 12371 29134 51667)								0.388889	44.742788	45.13188	14	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12575977	12575977	18709	19	T	G	G	G	673	52	ZNF709	4	4
UNC13A	23025	broad.mit.edu	37	19	17785516	17785516	+	Silent	SNP	C	G	G			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:17785516C>G	uc002nhd.2	-	c.366G>C	c.(364-366)ACG>ACC	p.T122T		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	34	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3														0.295455	32.021145	33.694137	13	31	KEEP	---	---	---	---	capture		Silent	SNP	17785516	17785516	17542	19	C	G	G	G	392	31	UNC13A	3	3
ZNF536	9745	broad.mit.edu	37	19	30935619	30935619	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:30935619G>T	uc002nsu.1	+	c.1150G>T	c.(1150-1152)GAG>TAG	p.E384*	ZNF536_uc010edd.1_Nonsense_Mutation_p.E384*	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	384	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)													0.382716	82.23523	83.20084	31	50	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	30935619	30935619	18568	19	G	T	T	T	533	41	ZNF536	5	2
RHPN2	85415	broad.mit.edu	37	19	33517420	33517420	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:33517420G>C	uc002nuf.2	-	c.304C>G	c.(304-306)CAG>GAG	p.Q102E	RHPN2_uc010xro.1_De_novo_Start_OutOfFrame|RHPN2_uc002nue.2_De_novo_Start_InFrame	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	102	REM.				signal transduction	perinuclear region of cytoplasm	protein binding			central_nervous_system(5)|ovary(1)	6	Esophageal squamous(110;0.137)									600				0.433962	222.892896	223.488158	69	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33517420	33517420	13826	19	G	C	C	C	585	45	RHPN2	3	3
DMKN	93099	broad.mit.edu	37	19	36004272	36004272	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36004272C>T	uc002nzm.3	-	c.106G>A	c.(106-108)GGG>AGG	p.G36R	DMKN_uc002nzk.3_5'Flank|DMKN_uc002nzl.3_5'Flank|DMKN_uc002nzo.3_Missense_Mutation_p.G36R|DMKN_uc002nzn.3_Missense_Mutation_p.G36R|DMKN_uc002nzw.2_5'Flank|DMKN_uc002nzr.2_5'Flank|DMKN_uc002nzp.2_5'Flank|DMKN_uc002nzq.2_5'Flank|DMKN_uc002nzt.2_5'Flank|DMKN_uc002nzs.2_5'Flank|DMKN_uc002nzu.2_5'Flank|DMKN_uc002nzv.2_5'Flank|DMKN_uc010xsv.1_5'Flank|DMKN_uc010xsw.1_5'Flank|DMKN_uc002nzx.3_5'Flank|DMKN_uc002nzy.3_5'Flank|DMKN_uc002nzz.2_5'Flank|DMKN_uc002oac.3_Missense_Mutation_p.G36R|DMKN_uc010eeb.2_Missense_Mutation_p.G36R|DMKN_uc002oaa.3_Missense_Mutation_p.G36R|DMKN_uc002oab.3_Missense_Mutation_p.G36R	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine isoform 2 precursor	36	Gly-rich.					extracellular region				large_intestine(1)|ovary(1)	2	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)											0.413043	53.891775	54.200924	19	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36004272	36004272	4762	19	C	T	T	T	273	21	DMKN	2	2
PSG5	5673	broad.mit.edu	37	19	43680281	43680281	+	Silent	SNP	G	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43680281G>A	uc002ovv.2	-	c.729C>T	c.(727-729)TAC>TAT	p.Y243Y	PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Intron|PSG5_uc002ovu.2_Silent_p.Y150Y|PSG5_uc002ovx.2_Silent_p.Y150Y|PSG5_uc002ovw.2_Intron	NM_002781	NP_002772	Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	150	Ig-like C2-type 1.				female pregnancy	extracellular region					0		Prostate(69;0.00899)												0.248889	132.894281	145.79636	56	169	KEEP	---	---	---	---	capture		Silent	SNP	43680281	43680281	13111	19	G	A	A	A	620	48	PSG5	2	2
ZNF229	7772	broad.mit.edu	37	19	44932522	44932522	+	Missense_Mutation	SNP	G	A	A	rs61742344		TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44932522G>A	uc002oze.1	-	c.2434C>T	c.(2434-2436)CGG>TGG	p.R812W	ZNF229_uc010ejk.1_Missense_Mutation_p.R466W|ZNF229_uc010ejl.1_Missense_Mutation_p.R806W	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	812	C2H2-type 18.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Prostate(69;0.0352)												0.090909	2.542091	11.81277	5	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44932522	44932522	18373	19	G	A	A	A	493	38	ZNF229	1	1
SIGLEC10	89790	broad.mit.edu	37	19	51914558	51914558	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51914558G>A	uc002pwo.2	-	c.1889C>T	c.(1888-1890)TCC>TTC	p.S630F	SIGLEC10_uc002pwp.2_Missense_Mutation_p.S572F|SIGLEC10_uc002pwq.2_Missense_Mutation_p.S477F|SIGLEC10_uc002pwr.2_Missense_Mutation_p.S535F|SIGLEC10_uc010ycy.1_Missense_Mutation_p.S445F|SIGLEC10_uc010ycz.1_Missense_Mutation_p.S487F|SIGLEC10_uc010eow.2_Missense_Mutation_p.S347F	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10 precursor	630	Cytoplasmic (Potential).				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)										0.424242	81.284459	81.615797	28	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51914558	51914558	14801	19	G	A	A	A	533	41	SIGLEC10	2	2
ZNRF4	148066	broad.mit.edu	37	19	5455751	5455751	+	Silent	SNP	C	G	G			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:5455751C>G	uc002mca.3	+	c.249C>G	c.(247-249)GTC>GTG	p.V83V		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4 precursor	83	Extracellular (Potential).					integral to membrane	zinc ion binding			large_intestine(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)										0.151515	10.353577	14.191117	5	28	KEEP	---	---	---	---	capture		Silent	SNP	5455751	5455751	18818	19	C	G	G	G	366	29	ZNRF4	3	3
C19orf51	352909	broad.mit.edu	37	19	55670944	55670944	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55670944C>T	uc002qjl.1	-	c.1396G>A	c.(1396-1398)GCC>ACC	p.A466T	TNNI3_uc002qjg.3_5'Flank|TNNI3_uc010yft.1_5'Flank|C19orf51_uc002qjh.1_Missense_Mutation_p.A214T|C19orf51_uc002qji.1_Missense_Mutation_p.A399T|C19orf51_uc002qjj.1_Missense_Mutation_p.A446T|C19orf51_uc002qjk.1_Missense_Mutation_p.A345T	NM_178837	NP_849159	Q8N9W5	CS051_HUMAN	hypothetical protein LOC352909	399											0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)										0.475	113.545845	113.589144	38	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55670944	55670944	1997	19	C	T	T	T	338	26	C19orf51	2	2
TMEM190	147744	broad.mit.edu	37	19	55889560	55889560	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55889560G>C	uc002qkt.1	+	c.523G>C	c.(523-525)GAG>CAG	p.E175Q		NM_139172	NP_631911	Q8WZ59	TM190_HUMAN	transmembrane protein 190 precursor	175	Cytoplasmic (Potential).|Poly-Glu.					integral to membrane					0	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)										0.40678	74.685018	75.134013	24	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55889560	55889560	16648	19	G	C	C	C	429	33	TMEM190	3	3
FIZ1	84922	broad.mit.edu	37	19	56109113	56109113	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56109113C>G	uc002qli.3	-	c.119G>C	c.(118-120)CGC>CCC	p.R40P	FIZ1_uc002qlj.3_Missense_Mutation_p.R40P|ZNF524_uc002qlk.1_5'Flank	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	40	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)										0.358491	55.515368	56.447688	19	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56109113	56109113	6138	19	C	G	G	G	351	27	FIZ1	3	3
EPN1	29924	broad.mit.edu	37	19	56204360	56204360	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56204360T>G	uc002qlx.2	+	c.1479T>G	c.(1477-1479)TTT>TTG	p.F493L	EPN1_uc002qlw.2_Missense_Mutation_p.F407L|EPN1_uc002qlv.2_Missense_Mutation_p.F381L|EPN1_uc010etd.2_Missense_Mutation_p.F406L	NM_001130071	NP_001123543	Q9Y6I3	EPN1_HUMAN	epsin 1 isoform a	407	[DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif.|Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding				0		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)										0.163934	19.014677	25.557452	10	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56204360	56204360	5378	19	T	G	G	G	816	63	EPN1	4	4
MUC16	94025	broad.mit.edu	37	19	9076923	9076923	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9076923T>A	uc002mkp.2	-	c.10523A>T	c.(10522-10524)GAC>GTC	p.D3508V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3509	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.367257	223.466484	226.966334	83	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9076923	9076923	10367	19	T	A	A	A	754	58	MUC16	3	3
PRMT6	55170	broad.mit.edu	37	1	107600087	107600087	+	Silent	SNP	G	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:107600087G>T	uc010ous.1	+	c.750G>T	c.(748-750)CCG>CCT	p.P250P		NM_018137	NP_060607	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	250					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity				0		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)										0.285714	34.779868	36.769675	14	35	KEEP	---	---	---	---	capture		Silent	SNP	107600087	107600087	12983	1	G	T	T	T	483	38	PRMT6	1	1
DENND2C	163259	broad.mit.edu	37	1	115151428	115151428	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:115151428T>A	uc001efd.1	-	c.1436A>T	c.(1435-1437)GAG>GTG	p.E479V	DENND2C_uc001eez.2_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.E422V	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	479											0	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)										0.285714	24.935744	26.378041	10	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115151428	115151428	4609	1	T	A	A	A	702	54	DENND2C	3	3
SPAG17	200162	broad.mit.edu	37	1	118693248	118693248	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:118693248T>C	uc001ehk.2	-	c.233A>G	c.(232-234)AAT>AGT	p.N78S		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	78						cilium|flagellar axoneme|microtubule				ovary(2)|large_intestine(1)	3	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)										0.2	10.057683	12.154415	5	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118693248	118693248	15482	1	T	C	C	C	676	52	SPAG17	4	4
VPS13D	55187	broad.mit.edu	37	1	12566973	12566973	+	Silent	SNP	G	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:12566973G>A	uc001atv.2	+	c.12861G>A	c.(12859-12861)CTG>CTA	p.L4287L	VPS13D_uc001atw.2_Silent_p.L4262L|VPS13D_uc001atx.2_Silent_p.L3474L|VPS13D_uc009vnl.2_Non-coding_Transcript|VPS13D_uc010obd.1_Silent_p.L285L|SNORA59B_uc001atz.1_5'Flank	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	4286					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)										0.23913	25.099232	27.960396	11	35	KEEP	---	---	---	---	capture		Silent	SNP	12566973	12566973	17759	1	G	A	A	A	574	45	VPS13D	2	2
OTUD7B	56957	broad.mit.edu	37	1	149943154	149943154	+	Silent	SNP	G	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:149943154G>A	uc001etn.2	-	c.111C>T	c.(109-111)GCC>GCT	p.A37A	OTUD7B_uc001eto.2_Missense_Mutation_p.P3L	NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	zinc finger protein Cezanne	37					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding				0	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)											0.077778	0.20129	16.565712	7	83	KEEP	---	---	---	---	capture		Silent	SNP	149943154	149943154	11732	1	G	A	A	A	548	43	OTUD7B	2	2
ADAMTSL4	54507	broad.mit.edu	37	1	150530998	150530998	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:150530998T>C	uc009wlw.2	+	c.2501T>C	c.(2500-2502)GTT>GCT	p.V834A	ADAMTSL4_uc001euw.2_Missense_Mutation_p.V811A|ADAMTSL4_uc001eux.2_Missense_Mutation_p.V811A|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.V772A|ADAMTSL4_uc009wlx.2_5'UTR	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	811	TSP type-1 3.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)	1	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)											0.142857	5.211313	7.792012	3	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150530998	150530998	278	1	T	C	C	C	780	60	ADAMTSL4	4	4
FLG	2312	broad.mit.edu	37	1	152283678	152283678	+	Silent	SNP	G	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152283678G>A	uc001ezu.1	-	c.3684C>T	c.(3682-3684)GAC>GAT	p.D1228D		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1228	Ser-rich.|Filaggrin 7.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)	9	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.370149	338.075727	343.049987	124	211	KEEP	---	---	---	---	capture		Silent	SNP	152283678	152283678	6160	1	G	A	A	A	516	40	FLG	1	1
FCRL1	115350	broad.mit.edu	37	1	157771907	157771907	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157771907G>T	uc001frg.2	-	c.684C>A	c.(682-684)CAC>CAA	p.H228Q	FCRL1_uc001frf.2_Non-coding_Transcript|FCRL1_uc001frh.2_Missense_Mutation_p.H228Q|FCRL1_uc001fri.2_Missense_Mutation_p.H228Q|FCRL1_uc001frj.2_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1 isoform 1 precursor	228	Ig-like C2-type 3.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)	3	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GBM(54;482 1003 11223 30131 35730)								0.144928	16.104317	24.475403	10	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157771907	157771907	6031	1	G	T	T	T	464	36	FCRL1	2	2
ATP1A4	480	broad.mit.edu	37	1	160143392	160143392	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160143392C>A	uc001fve.3	+	c.1876C>A	c.(1876-1878)CAT>AAT	p.H626N	ATP1A4_uc001fvf.3_Non-coding_Transcript|ATP1A4_uc001fvg.2_Missense_Mutation_p.H129N	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	626	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)	2	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)											0.258065	100.222865	108.448157	40	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160143392	160143392	1150	1	C	A	A	A	377	29	ATP1A4	2	2
HSD17B7	51478	broad.mit.edu	37	1	162773268	162773268	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:162773268G>T	uc001gci.2	+	c.690G>T	c.(688-690)TTG>TTT	p.L230F	HSD17B7_uc009wuv.2_Non-coding_Transcript	NM_016371	NP_057455	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	230	Helical; (Potential).				cholesterol biosynthetic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity			ovary(1)	1	all_hematologic(112;0.115)				NADH(DB00157)									0.202703	31.076045	37.15949	15	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	162773268	162773268	7683	1	G	T	T	T	581	45	HSD17B7	2	2
RXRG	6258	broad.mit.edu	37	1	165398014	165398014	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:165398014G>T	uc001gda.2	-	c.239C>A	c.(238-240)CCC>CAC	p.P80H		NM_006917	NP_008848	P48443	RXRG_HUMAN	retinoid X receptor, gamma isoform a	80	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)									0.236842	39.530778	44.330633	18	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165398014	165398014	14245	1	G	T	T	T	559	43	RXRG	2	2
SELL	6402	broad.mit.edu	37	1	169677568	169677568	+	Silent	SNP	G	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:169677568G>C	uc001ggl.1	-	c.501C>G	c.(499-501)CTC>CTG	p.L167L	C1orf112_uc001ggj.2_Intron|SELL_uc010pls.1_Silent_p.L107L|SELL_uc001ggk.2_Silent_p.L154L	NM_000655	NP_000646	P14151	LYAM1_HUMAN	selectin L precursor	154	C-type lectin.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding				0	all_hematologic(923;0.208)													0.139037	47.833427	71.372824	26	161	KEEP	---	---	---	---	capture		Silent	SNP	169677568	169677568	14502	1	G	C	C	C	418	33	SELL	3	3
SELL	6402	broad.mit.edu	37	1	169677935	169677935	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:169677935G>T	uc001ggl.1	-	c.134C>A	c.(133-135)GCA>GAA	p.A45E	C1orf112_uc001ggj.2_Intron|SELL_uc010pls.1_5'UTR|SELL_uc001ggk.2_Missense_Mutation_p.A32E	NM_000655	NP_000646	P14151	LYAM1_HUMAN	selectin L precursor	32					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding				0	all_hematologic(923;0.208)													0.272727	16.040832	17.064726	6	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169677935	169677935	14502	1	G	T	T	T	598	46	SELL	2	2
KIAA1614	57710	broad.mit.edu	37	1	180886045	180886045	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:180886045C>T	uc001gok.2	+	c.806C>T	c.(805-807)ACG>ATG	p.T269M		NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	hypothetical protein LOC57710	269										ovary(3)	3														0.212121	44.722992	52.31086	21	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	180886045	180886045	8557	1	C	T	T	T	247	19	KIAA1614	1	1
NR5A2	2494	broad.mit.edu	37	1	200017310	200017310	+	Silent	SNP	C	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:200017310C>T	uc001gvb.2	+	c.474C>T	c.(472-474)GCC>GCT	p.A158A	NR5A2_uc001gvc.2_Silent_p.A112A|NR5A2_uc009wzh.2_Silent_p.A118A|NR5A2_uc010pph.1_Silent_p.A86A	NM_205860	NP_995582	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	158	FTZ-F1 box.				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	32.040596	37.479082	13	52	KEEP	---	---	---	---	capture		Silent	SNP	200017310	200017310	11041	1	C	T	T	T	288	23	NR5A2	1	1
C1orf106	55765	broad.mit.edu	37	1	200880665	200880666	+	Missense_Mutation	DNP	GC	AA	AA			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:200880665_200880666GC>AA	uc001gvo.2	+	c.1299_1300GC>AA	c.(1297-1302)GTGCCA>GTAACA	p.P434T	C1orf106_uc010ppm.1_Missense_Mutation_p.P349T	NM_018265	NP_060735	Q3KP66	CA106_HUMAN	hypothetical protein LOC55765 isoform 1	434										ovary(1)	1														0.25	56.331323	62.309317	26	78	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	200880665	200880666	2047	1	GC	AA	AA	AA	587	46	C1orf106	2	2
MIA3	375056	broad.mit.edu	37	1	222805568	222805568	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:222805568G>T	uc001hnl.2	+	c.3231G>T	c.(3229-3231)CAG>CAT	p.Q1077H	MIA3_uc009xea.1_Missense_Mutation_p.Q913H	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1077	Extracellular (Potential).				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)										0.221239	58.733173	66.801916	25	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	222805568	222805568	9955	1	G	T	T	T	451	35	MIA3	2	2
OBSCN	84033	broad.mit.edu	37	1	228509046	228509046	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:228509046T>C	uc009xez.1	+	c.14504T>C	c.(14503-14505)GTT>GCT	p.V4835A	OBSCN_uc001hsn.2_Missense_Mutation_p.V4835A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4835					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.5	10.52765	10.52765	3	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	228509046	228509046	11217	1	T	C	C	C	780	60	OBSCN	4	4
RYR2	6262	broad.mit.edu	37	1	237947057	237947057	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237947057A>T	uc001hyl.1	+	c.12045A>T	c.(12043-12045)AAA>AAT	p.K4015N	RYR2_uc010pya.1_Missense_Mutation_p.K430N	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4015					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.272727	24.372746	25.901425	9	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237947057	237947057	14249	1	A	T	T	T	50	4	RYR2	3	3
OPN3	23596	broad.mit.edu	37	1	241767797	241767797	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:241767797C>A	uc001hza.2	-	c.458G>T	c.(457-459)TGG>TTG	p.W153L	OPN3_uc001hzb.2_Non-coding_Transcript|OPN3_uc001hzc.2_Intron	NM_014322	NP_055137	Q9H1Y3	OPN3_HUMAN	opsin 3	153	Cytoplasmic (Potential).				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity				0	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)											0.193548	24.659928	30.0988	12	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	241767797	241767797	11287	1	C	A	A	A	273	21	OPN3	2	2
OR11L1	391189	broad.mit.edu	37	1	248004584	248004585	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248004584_248004585GG>TT	uc001idn.1	-	c.614_615CC>AA	c.(613-615)GCC>GAA	p.A205E		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L,	205	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)											0.257485	114.466811	123.356366	43	124	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	248004584	248004585	11336	1	GG	TT	TT	TT	496	39	OR11L1	1	1
SH3BP5L	80851	broad.mit.edu	37	1	249106452	249106452	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:249106452C>A	uc001iew.1	-	c.829G>T	c.(829-831)GGG>TGG	p.G277W	SH3BP5L_uc010pzp.1_Missense_Mutation_p.G170W|SH3BP5L_uc010pzq.1_Missense_Mutation_p.G245W|SH3BP5L_uc001iev.1_Missense_Mutation_p.G158W	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	277											0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)											0.25	16.621429	18.206199	7	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	249106452	249106452	14739	1	C	A	A	A	299	23	SH3BP5L	1	1
GRIK3	2899	broad.mit.edu	37	1	37319244	37319244	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:37319244A>T	uc001caz.2	-	c.1184T>A	c.(1183-1185)ATC>AAC	p.I395N	GRIK3_uc001cba.1_Missense_Mutation_p.I395N	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	395	Extracellular (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|large_intestine(1)|breast(1)	5		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)									0.769231	31.253186	32.115451	10	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37319244	37319244	7054	1	A	T	T	T	156	12	GRIK3	3	3
SLC5A9	200010	broad.mit.edu	37	1	48696360	48696360	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:48696360C>T	uc001crn.2	+	c.668C>T	c.(667-669)GCC>GTC	p.A223V	SLC5A9_uc010oms.1_Non-coding_Transcript|SLC5A9_uc001cro.2_Missense_Mutation_p.A198V|SLC5A9_uc010omt.1_Missense_Mutation_p.A212V|SLC5A9_uc001crp.2_5'UTR|SLC5A9_uc010omu.1_5'UTR	NM_001135181	NP_001128653	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/glucose	198	Helical; (Potential).					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			ovary(3)	3														0.265625	41.668102	44.831259	17	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48696360	48696360	15169	1	C	T	T	T	338	26	SLC5A9	2	2
ROR1	4919	broad.mit.edu	37	1	64515390	64515390	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:64515390T>A	uc001dbj.2	+	c.191T>A	c.(190-192)ATG>AAG	p.M64K	ROR1_uc001dbi.3_Missense_Mutation_p.M64K	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	64	Ig-like C2-type.|Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|stomach(1)|breast(1)|skin(1)|kidney(1)	13										216				0.262376	142.171277	152.502266	53	149	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64515390	64515390	14005	1	T	A	A	A	663	51	ROR1	3	3
C1orf141	400757	broad.mit.edu	37	1	67561035	67561035	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:67561035A>T	uc001ddl.1	-	c.486T>A	c.(484-486)AGT>AGA	p.S162R	C1orf141_uc001ddm.1_Missense_Mutation_p.S162R|C1orf141_uc001ddn.1_Intron	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN	hypothetical protein LOC400757	162										ovary(1)	1														0.3125	12.768231	13.269588	5	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67561035	67561035	2068	1	A	T	T	T	180	14	C1orf141	3	3
LRRC7	57554	broad.mit.edu	37	1	70478656	70478656	+	Splice_Site_SNP	SNP	G	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:70478656G>C	uc001dep.2	+	c.1021_splice	c.e11-1	p.I341_splice	LRRC7_uc009wbg.2_Splice_Site_SNP	NM_020794	NP_065845			leucine rich repeat containing 7							centrosome|focal adhesion|nucleolus	protein binding			ovary(8)|breast(2)|central_nervous_system(2)|liver(1)	13										783				0.146341	11.320902	16.250938	6	35	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	70478656	70478656	9396	1	G	C	C	C	429	33	LRRC7	5	3
C1orf173	127254	broad.mit.edu	37	1	75078310	75078310	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:75078310T>C	uc001dgg.2	-	c.1184A>G	c.(1183-1185)TAC>TGC	p.Y395C	C1orf173_uc001dgi.3_Missense_Mutation_p.Y189C	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	395										ovary(3)|central_nervous_system(1)	4														0.268293	29.609155	31.594987	11	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75078310	75078310	2081	1	T	C	C	C	741	57	C1orf173	4	4
PRKACB	5567	broad.mit.edu	37	1	84668410	84668410	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:84668410C>G	uc001djl.2	+	c.828C>G	c.(826-828)ATC>ATG	p.I276M	PRKACB_uc001djj.2_Missense_Mutation_p.I229M|PRKACB_uc010ort.1_Missense_Mutation_p.I236M|PRKACB_uc001djn.2_Missense_Mutation_p.I233M|PRKACB_uc010oru.1_Missense_Mutation_p.I217M|PRKACB_uc001djp.2_Missense_Mutation_p.I235M|PRKACB_uc001djq.2_Missense_Mutation_p.I199M|PRKACB_uc010orv.1_Missense_Mutation_p.I216M|PRKACB_uc001dji.2_Missense_Mutation_p.I229M|PRKACB_uc001djk.2_Missense_Mutation_p.I276M|PRKACB_uc009wcf.1_Missense_Mutation_p.I235M	NM_182948	NP_891993	P22694	KAPCB_HUMAN	cAMP-dependent protein kinase catalytic subunit	229	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding			lung(2)|ovary(1)	3				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)						144				0.052174	-11.349928	13.03947	6	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84668410	84668410	12941	1	C	G	G	G	408	32	PRKACB	3	3
DNASE2B	58511	broad.mit.edu	37	1	84880433	84880433	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:84880433G>C	uc001djt.1	+	c.968G>C	c.(967-969)GGA>GCA	p.G323A	DNASE2B_uc001dju.1_Missense_Mutation_p.G115A|DNASE2B_uc009wch.1_Missense_Mutation_p.G115A	NM_021233	NP_067056	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta isoform 1 precursor	323					DNA metabolic process	lysosome	deoxyribonuclease II activity				0				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		Pancreas(54;788 1175 11852 16034 30034)								0.242424	21.882284	23.879873	8	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84880433	84880433	4848	1	G	C	C	C	533	41	DNASE2B	3	3
CYR61	3491	broad.mit.edu	37	1	86047826	86047826	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:86047826G>A	uc001dle.2	+	c.493G>A	c.(493-495)GAG>AAG	p.E165K	CYR61_uc001dlg.2_5'UTR|CYR61_uc009wcp.1_5'Flank	NM_001554	NP_001545	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61 precursor	165				E -> Q (in Ref. 2; CAA72167).	cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding				0				all cancers(265;0.0216)|Epithelial(280;0.0441)								OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.135135	13.502232	23.050862	10	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86047826	86047826	4364	1	G	A	A	A	481	37	CYR61	1	1
ACSS1	84532	broad.mit.edu	37	20	24994697	24994697	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:24994697A>T	uc002wub.2	-	c.1352T>A	c.(1351-1353)ATC>AAC	p.I451N	ACSS1_uc002wuc.2_Missense_Mutation_p.I449N|ACSS1_uc010gdc.2_Missense_Mutation_p.I246N|ACSS1_uc002wud.1_Non-coding_Transcript|ACSS1_uc002wua.2_Missense_Mutation_p.I368N	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	451					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			ovary(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)									0.307692	11.595748	12.023967	4	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24994697	24994697	189	20	A	T	T	T	156	12	ACSS1	3	3
NINL	22981	broad.mit.edu	37	20	25485523	25485523	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:25485523C>A	uc002wux.1	-	c.708_splice	c.e6+1	p.E236_splice	NINL_uc010gdn.1_Splice_Site_SNP_p.E236_splice|NINL_uc010gdo.1_Splice_Site_SNP_p.E76_splice|NINL_uc010ztf.1_Splice_Site_SNP_p.E252_splice	NM_025176	NP_079452			ninein-like						G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.230769	6.426515	7.284896	3	10	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	25485523	25485523	10821	20	C	A	A	A	234	18	NINL	5	2
TTLL9	164395	broad.mit.edu	37	20	30497669	30497669	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:30497669C>T	uc010gdx.1	+	c.448C>T	c.(448-450)CAC>TAC	p.H150Y	TTLL9_uc002wwy.1_Non-coding_Transcript|TTLL9_uc002wwz.1_Non-coding_Transcript|TTLL9_uc002wxa.1_Non-coding_Transcript|TTLL9_uc002wxb.1_Non-coding_Transcript|TTLL9_uc010zto.1_Non-coding_Transcript|TTLL9_uc002wxc.2_Intron|TTLL9_uc010ztp.1_Non-coding_Transcript|TTLL9_uc010ztq.1_Non-coding_Transcript	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	150	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			ovary(2)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)											0.130435	9.918088	16.028855	6	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30497669	30497669	17289	20	C	T	T	T	273	21	TTLL9	2	2
UBOX5	22888	broad.mit.edu	37	20	3095974	3095974	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:3095974G>T	uc002whw.2	-	c.1394C>A	c.(1393-1395)TCC>TAC	p.S465Y	UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Missense_Mutation_p.S465Y	NM_014948	NP_055763	O94941	RNF37_HUMAN	U-box domain containing 5 isoform a	465						nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2												OREG0025729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.210526	15.579872	18.526643	8	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3095974	3095974	17452	20	G	T	T	T	533	41	UBOX5	2	2
SEMG1	6406	broad.mit.edu	37	20	43836133	43836133	+	Silent	SNP	T	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:43836133T>C	uc002xni.2	+	c.195T>C	c.(193-195)ATT>ATC	p.I65I	SEMG1_uc002xnj.2_Silent_p.I65I|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Silent_p.I65I	NM_003007	NP_002998	P04279	SEMG1_HUMAN	semenogelin I preproprotein	65					insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity				0		Myeloproliferative disorder(115;0.0122)												0.097561	8.640952	21.934627	8	74	KEEP	---	---	---	---	capture		Silent	SNP	43836133	43836133	14530	20	T	C	C	C	796	62	SEMG1	4	4
ZSWIM3	140831	broad.mit.edu	37	20	44506136	44506136	+	Silent	SNP	C	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:44506136C>T	uc002xqd.2	+	c.939C>T	c.(937-939)CTC>CTT	p.L313L	ZSWIM3_uc010zxg.1_Silent_p.L307L	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM domain containing 3	313							zinc ion binding			ovary(2)	2		Myeloproliferative disorder(115;0.0122)												0.136364	13.731104	22.181057	9	57	KEEP	---	---	---	---	capture		Silent	SNP	44506136	44506136	18846	20	C	T	T	T	405	32	ZSWIM3	2	2
MMP9	4318	broad.mit.edu	37	20	44639914	44639914	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:44639914A>G	uc002xqz.2	+	c.782A>G	c.(781-783)AAC>AGC	p.N261S		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	261	Fibronectin type-II 1.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)					462				0.066038	-8.191437	12.717045	7	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44639914	44639914	10060	20	A	G	G	G	26	2	MMP9	4	4
ZNF831	128611	broad.mit.edu	37	20	57769599	57769599	+	Silent	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57769599C>A	uc002yan.2	+	c.3525C>A	c.(3523-3525)CCC>CCA	p.P1175P		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1175						intracellular	nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(29;0.0085)													0.333333	32.799518	33.679425	12	24	KEEP	---	---	---	---	capture		Silent	SNP	57769599	57769599	18784	20	C	A	A	A	301	24	ZNF831	2	2
RSPO4	343637	broad.mit.edu	37	20	948637	948637	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:948637G>T	uc002wej.2	-	c.224C>A	c.(223-225)CCT>CAT	p.P75H	RSPO4_uc002wek.2_Missense_Mutation_p.P75H	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN	R-spondin family, member 4 isoform 1 precursor	75					Wnt receptor signaling pathway	extracellular region	heparin binding				0														0.3125	115.212836	119.725634	45	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	948637	948637	14192	20	G	T	T	T	455	35	RSPO4	2	2
PRAME	23532	broad.mit.edu	37	22	22892423	22892423	+	Silent	SNP	G	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:22892423G>T	uc002zwf.2	-	c.678C>A	c.(676-678)ATC>ATA	p.I226I	LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Silent_p.I210I|PRAME_uc010gtr.2_Silent_p.I226I|PRAME_uc002zwg.2_Silent_p.I226I|PRAME_uc002zwh.2_Silent_p.I226I|PRAME_uc002zwi.2_Silent_p.I226I|PRAME_uc002zwj.2_Silent_p.I226I|PRAME_uc002zwk.2_Silent_p.I226I	NM_206956	NP_996839	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	226					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding|transcription repressor activity			central_nervous_system(2)	2	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		Melanoma(73;1707 1838 15168 27201)				1184				0.181818	7.585985	9.679391	4	18	KEEP	---	---	---	---	capture		Silent	SNP	22892423	22892423	12860	22	G	T	T	T	525	41	PRAME	2	2
SGSM1	129049	broad.mit.edu	37	22	25264768	25264768	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:25264768G>T	uc003abg.2	+	c.1237G>T	c.(1237-1239)GAG>TAG	p.E413*	SGSM1_uc003abh.2_Nonsense_Mutation_p.E413*|SGSM1_uc010guu.1_Nonsense_Mutation_p.E413*|SGSM1_uc003abj.2_Nonsense_Mutation_p.E413*|SGSM1_uc003abi.1_Nonsense_Mutation_p.E388*	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	413						Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5														0.16129	25.562208	35.717996	15	78	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	25264768	25264768	14713	22	G	T	T	T	585	45	SGSM1	5	2
NHP2L1	4809	broad.mit.edu	37	22	42076369	42076369	+	Splice_Site_SNP	SNP	C	G	G			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:42076369C>G	uc003bat.2	-	c.4_splice	c.e2-1	p.T2_splice	NHP2L1_uc003bau.2_Splice_Site_SNP_p.T2_splice|NHP2L1_uc003bav.2_Splice_Site_SNP_p.T2_splice|NHP2L1_uc003baw.2_Splice_Site_SNP_p.T2_splice	NM_005008	NP_004999			NHP2 non-histone chromosome protein 2-like 1						nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding				0														0.088235	1.997921	7.82563	3	31	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	42076369	42076369	10810	22	C	G	G	G	416	32	NHP2L1	5	3
EDAR	10913	broad.mit.edu	37	2	109513583	109513583	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:109513583T>G	uc010fjn.2	-	c.1223A>C	c.(1222-1224)CAC>CCC	p.H408P	EDAR_uc002teq.3_Missense_Mutation_p.H376P|EDAR_uc010yws.1_Missense_Mutation_p.H408P	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor precursor	376	Death.|Cytoplasmic (Potential).				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity				0														0.272727	42.514641	45.066471	15	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109513583	109513583	5092	2	T	G	G	G	767	59	EDAR	4	4
IWS1	55677	broad.mit.edu	37	2	128255738	128255738	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:128255738C>T	uc002ton.2	-	c.1543G>A	c.(1543-1545)GAT>AAT	p.D515N	IWS1_uc010yzl.1_Intron	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	IWS1 homolog	515						nucleus	DNA binding|transcription regulator activity			ovary(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)										0.129032	5.776869	9.932665	4	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128255738	128255738	8235	2	C	T	T	T	377	29	IWS1	2	2
LRP1B	53353	broad.mit.edu	37	2	141202236	141202236	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141202236C>T	uc002tvj.1	-	c.10070G>A	c.(10069-10071)TGT>TAT	p.C3357Y		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3357	Extracellular (Potential).|LDL-receptor class A 22.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)			p.C3357F(JHH5-Tumor)	2546	TSP Lung(27;0.18)			0.304348	35.930004	37.502705	14	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141202236	141202236	9328	2	C	T	T	T	221	17	LRP1B	2	2
RIF1	55183	broad.mit.edu	37	2	152320281	152320281	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:152320281G>T	uc002txm.2	+	c.4247G>T	c.(4246-4248)CGG>CTG	p.R1416L	RIF1_uc002txl.2_Missense_Mutation_p.R1416L|RIF1_uc002txn.2_Missense_Mutation_p.R1416L|RIF1_uc002txo.2_Missense_Mutation_p.R1416L|RIF1_uc002txp.2_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	1416					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|lung(2)|kidney(1)	12				BRCA - Breast invasive adenocarcinoma(221;0.0429)					p.R1416Q(SNUC4-Tumor)	950				0.125	4.642892	10.152819	5	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152320281	152320281	13834	2	G	T	T	T	507	39	RIF1	1	1
KCNJ3	3760	broad.mit.edu	37	2	155566162	155566162	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:155566162A>T	uc002tyv.1	+	c.750A>T	c.(748-750)GAA>GAT	p.E250D	KCNJ3_uc010zce.1_Intron	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	250	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			pancreas(1)	1					Halothane(DB01159)									0.144928	15.403308	23.774983	10	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155566162	155566162	8357	2	A	T	T	T	24	2	KCNJ3	3	3
BAZ2B	29994	broad.mit.edu	37	2	160243034	160243034	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:160243034G>A	uc002uao.2	-	c.3301C>T	c.(3301-3303)CGA>TGA	p.R1101*	BAZ2B_uc002uap.2_Nonsense_Mutation_p.R1065*	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1101	DDT.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|transcription regulator activity|zinc ion binding			ovary(3)	3														0.206349	29.455276	34.480025	13	50	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	160243034	160243034	1353	2	G	A	A	A	519	40	BAZ2B	5	1
XIRP2	129446	broad.mit.edu	37	2	168103983	168103983	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168103983G>T	uc002udx.2	+	c.6081G>T	c.(6079-6081)AAG>AAT	p.K2027N	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.K1852N|XIRP2_uc010fpq.2_Missense_Mutation_p.K1805N|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1852					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.274194	41.141883	43.994359	17	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168103983	168103983	18011	2	G	T	T	T	425	33	XIRP2	2	2
TTN	7273	broad.mit.edu	37	2	179409131	179409131	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179409131A>G	uc010zfg.1	-	c.88121T>C	c.(88120-88122)GTA>GCA	p.V29374A	TTN_uc010zfh.1_Missense_Mutation_p.V23069A|TTN_uc010zfi.1_Missense_Mutation_p.V23002A|TTN_uc010zfj.1_Missense_Mutation_p.V22877A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2867										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)							8722				0.27381	63.813616	67.749281	23	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179409131	179409131	17290	2	A	G	G	G	182	14	TTN	4	4
TTN	7273	broad.mit.edu	37	2	179414451	179414451	+	Silent	SNP	G	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179414451G>T	uc010zfg.1	-	c.84294C>A	c.(84292-84294)GCC>GCA	p.A28098A	TTN_uc010zfh.1_Silent_p.A21793A|TTN_uc010zfi.1_Silent_p.A21726A|TTN_uc010zfj.1_Silent_p.A21601A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	Error:Variant_position_missing_in_Q4ZG20_after_alignment										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)							8722				0.222222	26.331215	30.123177	12	42	KEEP	---	---	---	---	capture		Silent	SNP	179414451	179414451	17290	2	G	T	T	T	444	35	TTN	2	2
NUP35	129401	broad.mit.edu	37	2	184022190	184022190	+	Silent	SNP	T	G	G			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:184022190T>G	uc002upf.2	+	c.558T>G	c.(556-558)GCT>GCG	p.A186A	NUP35_uc010zfs.1_Silent_p.A168A|NUP35_uc010zft.1_Silent_p.A68A|NUP35_uc002upg.2_Non-coding_Transcript	NM_138285	NP_612142	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	186	RRM Nup35-type.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane					0														0.1	2.169614	8.564984	4	36	KEEP	---	---	---	---	capture		Silent	SNP	184022190	184022190	11168	2	T	G	G	G	717	56	NUP35	4	4
COL5A2	1290	broad.mit.edu	37	2	189933534	189933534	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:189933534G>T	uc002uqk.2	-	c.1235C>A	c.(1234-1236)CCA>CAA	p.P412Q	COL5A2_uc010frx.2_Intron	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	412					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)											0.25	9.99158	10.901098	4	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189933534	189933534	3835	2	G	T	T	T	611	47	COL5A2	2	2
SLC40A1	30061	broad.mit.edu	37	2	190428759	190428759	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:190428759T>C	uc002uqp.3	-	c.953A>G	c.(952-954)TAT>TGT	p.Y318C		NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated	318	Helical; (Potential).				anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)											0.181818	14.332787	17.468902	6	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	190428759	190428759	15125	2	T	C	C	C	637	49	SLC40A1	4	4
NRP2	8828	broad.mit.edu	37	2	206590698	206590699	+	Missense_Mutation	DNP	TG	CT	CT			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:206590698_206590699TG>CT	uc002vaw.2	+	c.882_883TG>CT	c.(880-885)AGTGCC>AGCTCC	p.A295S	NRP2_uc002vat.2_Missense_Mutation_p.A295S|NRP2_uc002vau.2_Missense_Mutation_p.A295S|NRP2_uc002vav.2_Missense_Mutation_p.A295S|NRP2_uc002vax.2_Missense_Mutation_p.A295S|NRP2_uc002vay.2_Missense_Mutation_p.A295S|NRP2_uc010fud.2_Missense_Mutation_p.A295S	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	295	Extracellular (Potential).|F5/8 type C 1.				axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			ovary(1)|central_nervous_system(1)	2														0.175439	22.919337	28.577447	10	47	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	206590698	206590699	11066	2	TG	CT	CT	CT	764	59	NRP2	4	4
CPS1	1373	broad.mit.edu	37	2	211447412	211447412	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:211447412G>C	uc010fur.2	+	c.618G>C	c.(616-618)TTG>TTC	p.L206F	CPS1_uc002vee.3_Missense_Mutation_p.L200F	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform a	200	Anthranilate phosphoribosyltransferase homolog.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)	12				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)										0.294118	31.246555	32.530427	10	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	211447412	211447412	3961	2	G	C	C	C	581	45	CPS1	3	3
SPEG	10290	broad.mit.edu	37	2	220354245	220354245	+	Silent	SNP	C	G	G			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220354245C>G	uc010fwg.2	+	c.8505C>G	c.(8503-8505)CTC>CTG	p.L2835L		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2835	Pro-rich.				muscle organ development|negative regulation of cell proliferation|protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity			ovary(4)|stomach(2)|central_nervous_system(1)	7		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)						482				0.125	4.875459	9.275783	4	28	KEEP	---	---	---	---	capture		Silent	SNP	220354245	220354245	15548	2	C	G	G	G	366	29	SPEG	3	3
DOCK10	55619	broad.mit.edu	37	2	225709558	225709558	+	Splice_Site_SNP	SNP	T	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:225709558T>A	uc010fwz.1	-	c.2482_splice	c.e22-1	p.H828_splice	DOCK10_uc002vob.2_Splice_Site_SNP_p.H822_splice	NM_014689	NP_055504			dedicator of cytokinesis 10								GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)										0.384615	16.37229	16.523928	5	8	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	225709558	225709558	4869	2	T	A	A	A	715	55	DOCK10	5	3
DIS3L2	129563	broad.mit.edu	37	2	233028203	233028203	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:233028203A>T	uc010fxz.2	+	c.985A>T	c.(985-987)ATT>TTT	p.I329F	DIS3L2_uc002vsm.3_Non-coding_Transcript|DIS3L2_uc002vso.2_Non-coding_Transcript	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	329							exonuclease activity|ribonuclease activity|RNA binding			breast(1)|central_nervous_system(1)	2		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)										0.277778	28.435098	30.03422	10	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	233028203	233028203	4716	2	A	T	T	T	52	4	DIS3L2	3	3
TRIM54	57159	broad.mit.edu	37	2	27521582	27521582	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27521582G>A	uc002rjn.2	+	c.316G>A	c.(316-318)GAC>AAC	p.D106N	TRIM54_uc002rjo.2_Missense_Mutation_p.D106N	NM_032546	NP_115935	Q9BYV2	TRI54_HUMAN	ring finger protein 30 isoform 1	106					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.304348	18.415682	19.201722	7	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27521582	27521582	17074	2	G	A	A	A	481	37	TRIM54	1	1
ALK	238	broad.mit.edu	37	2	29940451	29940452	+	Missense_Mutation	DNP	GC	AA	AA			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:29940451_29940452GC>AA	uc002rmy.2	-	c.779_780GC>TT	c.(778-780)AGC>ATT	p.S260I		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	260	Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(191)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(14)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(200)|autonomic_ganglia(95)|soft_tissue(59)|kidney(4)|large_intestine(3)|ovary(3)|central_nervous_system(1)|breast(1)|pancreas(1)	1093	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)				p.S260S(BT474-Tumor)	777				0.415385	80.613578	81.019792	27	38	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	29940451	29940452	528	2	GC	AA	AA	AA	542	42	ALK	2	2
LHCGR	3973	broad.mit.edu	37	2	48915565	48915565	+	Silent	SNP	G	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:48915565G>T	uc002rwu.3	-	c.1371C>A	c.(1369-1371)CTC>CTA	p.L457L	GTF2A1L_uc002rwt.2_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	457	Helical; Name=3; (Potential).		L -> R (in FMPP).		male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			ovary(3)|breast(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)									0.267606	91.300028	98.217839	38	104	KEEP	---	---	---	---	capture		Silent	SNP	48915565	48915565	9088	2	G	T	T	T	574	45	LHCGR	2	2
CCDC142	84865	broad.mit.edu	37	2	74708398	74708398	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74708398C>G	uc002slr.2	-	c.1210G>C	c.(1210-1212)GAT>CAT	p.D404H	TTC31_uc002sls.2_5'Flank|TTC31_uc010yrv.1_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.2_Non-coding_Transcript|CCDC142_uc002slq.2_Missense_Mutation_p.D404H|CCDC142_uc002slp.2_Missense_Mutation_p.D404H	NM_032779	NP_116168	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	404										central_nervous_system(1)	1														0.292683	33.897187	35.467989	12	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74708398	74708398	2896	2	C	G	G	G	390	30	CCDC142	3	3
GGCX	2677	broad.mit.edu	37	2	85777682	85777682	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:85777682G>C	uc002sps.2	-	c.2080C>G	c.(2080-2082)CGC>GGC	p.R694G	GGCX_uc010yss.1_Missense_Mutation_p.R510G|GGCX_uc010yst.1_Missense_Mutation_p.R637G	NM_000821	NP_000812	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase isoform 1	694	Lumenal (Potential).				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			ovary(1)	1					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)									0.315217	86.360813	89.145063	29	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85777682	85777682	6624	2	G	C	C	C	507	39	GGCX	3	3
TRIM43	129868	broad.mit.edu	37	2	96261979	96261979	+	Silent	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:96261979C>A	uc002suv.2	+	c.537C>A	c.(535-537)ATC>ATA	p.I179I		NM_138800	NP_620155	Q96BQ3	TRI43_HUMAN	tripartite motif-containing 43	179						intracellular	zinc ion binding			ovary(1)	1														0.173913	7.784772	10.094102	4	19	KEEP	---	---	---	---	capture		Silent	SNP	96261979	96261979	17062	2	C	A	A	A	369	29	TRIM43	2	2
CD86	942	broad.mit.edu	37	3	121828232	121828232	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:121828232G>A	uc003eet.2	+	c.824G>A	c.(823-825)CGG>CAG	p.R275Q	CD86_uc011bjo.1_Missense_Mutation_p.R193Q|CD86_uc011bjp.1_Missense_Mutation_p.R163Q|CD86_uc003eeu.2_Missense_Mutation_p.R269Q	NM_175862	NP_787058	P42081	CD86_HUMAN	CD86 antigen isoform 1	275	Cytoplasmic (Potential).				cell-cell signaling|interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	integral to membrane	coreceptor activity|protein binding|transcription activator activity			pancreas(1)	1				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	GBM(67;1379 1389 36064 39806)								0.164948	33.08359	43.382758	16	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121828232	121828232	3171	3	G	A	A	A	507	39	CD86	1	1
RBP2	5948	broad.mit.edu	37	3	139180964	139180964	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:139180964C>T	uc003eth.2	-	c.242G>A	c.(241-243)CGG>CAG	p.R81Q		NM_004164	NP_004155	P50120	RET2_HUMAN	retinol binding protein 2, cellular	81					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity				0					Vitamin A(DB00162)									0.120482	14.348463	26.021795	10	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139180964	139180964	13625	3	C	T	T	T	299	23	RBP2	1	1
TRIM42	287015	broad.mit.edu	37	3	140406869	140406869	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:140406869C>A	uc003eto.1	+	c.1345C>A	c.(1345-1347)CTG>ATG	p.L449M		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	tripartite motif-containing 42	449	COS.					intracellular	zinc ion binding			lung(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)|skin(1)	6										261				0.185714	26.232836	32.715257	13	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140406869	140406869	17061	3	C	A	A	A	311	24	TRIM42	2	2
ATR	545	broad.mit.edu	37	3	142281289	142281289	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:142281289T>A	uc003eux.3	-	c.955A>T	c.(955-957)AAT>TAT	p.N319Y		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	319					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|breast(4)|ovary(3)|skin(2)|stomach(1)|central_nervous_system(1)|liver(1)	17										936				0.37931	29.316173	29.687352	11	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142281289	142281289	1223	3	T	A	A	A	832	64	ATR	3	3
SLITRK3	22865	broad.mit.edu	37	3	164907125	164907125	+	Silent	SNP	T	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164907125T>C	uc003fej.3	-	c.1494A>G	c.(1492-1494)GCA>GCG	p.A498A	SLITRK3_uc003fek.2_Silent_p.A498A	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	498	LRR 10.|Extracellular (Potential).					integral to membrane				ovary(6)|pancreas(1)	7														0.144578	17.441132	27.53864	12	71	KEEP	---	---	---	---	capture		Silent	SNP	164907125	164907125	15242	3	T	C	C	C	704	55	SLITRK3	4	4
PLCL2	23228	broad.mit.edu	37	3	17051510	17051510	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:17051510G>C	uc011awc.1	+	c.648G>C	c.(646-648)GAG>GAC	p.E216D	PLCL2_uc010het.1_Missense_Mutation_p.E98D|PLCL2_uc011awd.1_Missense_Mutation_p.E98D	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2 isoform 1	224	PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|lung(1)	2														0.068493	-1.885585	12.171213	5	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17051510	17051510	12466	3	G	C	C	C	425	33	PLCL2	3	3
CHRD	8646	broad.mit.edu	37	3	184105183	184105183	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:184105183G>A	uc003fov.2	+	c.2369G>A	c.(2368-2370)CGG>CAG	p.R790Q	CHRD_uc003fow.2_Missense_Mutation_p.R420Q|CHRD_uc003fox.2_Missense_Mutation_p.R790Q|CHRD_uc003foy.2_Missense_Mutation_p.R420Q|CHRD_uc010hyc.2_Missense_Mutation_p.R380Q|CHRD_uc011brr.1_Missense_Mutation_p.R332Q	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	chordin precursor	790	VWFC 3.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			ovary(1)	1	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)											0.129032	6.379814	10.532676	4	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	184105183	184105183	3506	3	G	A	A	A	507	39	CHRD	1	1
TGFBR2	7048	broad.mit.edu	37	3	30686295	30686295	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:30686295T>C	uc003cen.2	+	c.226T>C	c.(226-228)TGT>CGT	p.C76R	TGFBR2_uc003ceo.2_Missense_Mutation_p.C51R	NM_001024847	NP_001020018	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	51	Extracellular (Potential).				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane|transforming growth factor beta receptor complex	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(3)|ovary(3)|lung(2)|central_nervous_system(1)	24										132				0.387755	58.216911	58.756634	19	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30686295	30686295	16350	3	T	C	C	C	767	59	TGFBR2	4	4
COL7A1	1294	broad.mit.edu	37	3	48607596	48607596	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48607596G>A	uc003ctz.2	-	c.7456C>T	c.(7456-7458)CCC>TCC	p.P2486S		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	2486	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(2)	9				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)										0.26087	14.745715	15.932254	6	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48607596	48607596	3842	3	G	A	A	A	559	43	COL7A1	2	2
PRKAR2A	5576	broad.mit.edu	37	3	48810501	48810501	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48810501G>A	uc010hki.1	-	c.583C>T	c.(583-585)CGC>TGC	p.R195C	PRKAR2A_uc003cux.1_Missense_Mutation_p.R195C|PRKAR2A_uc003cuy.1_Missense_Mutation_p.R195C	NM_004157	NP_004148	P13861	KAP2_HUMAN	cAMP-dependent protein kinase, regulatory	195	cAMP 1.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)										0.131148	12.084775	20.131202	8	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48810501	48810501	12948	3	G	A	A	A	507	39	PRKAR2A	1	1
USP19	10869	broad.mit.edu	37	3	49153944	49153944	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:49153944C>A	uc011bch.1	-	c.1223G>T	c.(1222-1224)TGC>TTC	p.C408F	USP19_uc003cwa.2_Missense_Mutation_p.C113F|USP19_uc003cvz.3_Missense_Mutation_p.C408F|USP19_uc011bcg.1_Missense_Mutation_p.C398F|USP19_uc003cwb.2_Missense_Mutation_p.C393F|USP19_uc003cwc.1_Missense_Mutation_p.C63F|USP19_uc003cwd.1_Missense_Mutation_p.C307F|USP19_uc011bci.1_Missense_Mutation_p.C393F	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	307	CS 2.|Cytoplasmic (Potential).				proteasomal ubiquitin-dependent protein catabolic process	endoplasmic reticulum membrane|integral to membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(4)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)										0.327273	49.729797	51.185814	18	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49153944	49153944	17613	3	C	A	A	A	325	25	USP19	2	2
EPHA6	285220	broad.mit.edu	37	3	97439124	97439124	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:97439124G>T	uc010how.1	+	c.2804G>T	c.(2803-2805)AGG>ATG	p.R935M	EPHA6_uc003drt.2_Missense_Mutation_p.R327M|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	840	Protein kinase.|Cytoplasmic (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(3)|lung(3)|stomach(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	12										480				0.25	29.744864	32.703756	13	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97439124	97439124	5364	3	G	T	T	T	455	35	EPHA6	2	2
CC2D2A	57545	broad.mit.edu	37	4	15504503	15504503	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:15504503G>T	uc010idv.2	+	c.395G>T	c.(394-396)CGA>CTA	p.R132L	CC2D2A_uc003gnx.2_Missense_Mutation_p.R83L|CC2D2A_uc003gnu.2_Missense_Mutation_p.R132L|CC2D2A_uc003gnv.2_Missense_Mutation_p.R132L	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A isoform	132					cell projection organization	cilium|microtubule basal body				pancreas(2)|ovary(1)	3														0.36	26.168105	26.599479	9	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15504503	15504503	2848	4	G	T	T	T	481	37	CC2D2A	1	1
GUCY1B3	2983	broad.mit.edu	37	4	156727536	156727536	+	Splice_Site_SNP	SNP	A	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:156727536A>T	uc011cio.1	+	c.1903_splice	c.e15-2	p.E635_splice	GUCY1B3_uc003ipc.2_Splice_Site_SNP_p.E613_splice|GUCY1B3_uc011cip.1_Splice_Site_SNP_p.E593_splice|GUCY1B3_uc003ipd.2_Splice_Site_SNP_p.E541_splice|GUCY1B3_uc010iqf.2_Splice_Site_SNP_p.E580_splice|GUCY1B3_uc010iqg.2_Splice_Site_SNP_p.E584_splice|GUCY1B3_uc011ciq.1_Splice_Site_SNP_p.E541_splice	NM_000857	NP_000848			guanylate cyclase 1, soluble, beta 3						blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)										0.173913	7.884978	10.194105	4	19	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	156727536	156727536	7175	4	A	T	T	T	39	3	GUCY1B3	5	3
PPAT	5471	broad.mit.edu	37	4	57301533	57301533	+	Silent	SNP	G	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:57301533G>C	uc003hbr.2	-	c.111C>G	c.(109-111)CTC>CTG	p.L37L	PAICS_uc003hbs.1_5'Flank|PAICS_uc011cac.1_5'Flank|PAICS_uc003hbt.1_5'Flank|PAICS_uc003hbu.1_5'Flank|PAICS_uc010ihd.1_5'Flank	NM_002703	NP_002694	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	37	Glutamine amidotransferase type-2.				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding				0	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)									0.162162	12.930603	16.942241	6	31	KEEP	---	---	---	---	capture		Silent	SNP	57301533	57301533	12732	4	G	C	C	C	470	37	PPAT	3	3
PPAT	5471	broad.mit.edu	37	4	57301535	57301535	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:57301535G>A	uc003hbr.2	-	c.109C>T	c.(109-111)CTC>TTC	p.L37F	PAICS_uc003hbs.1_5'Flank|PAICS_uc011cac.1_5'Flank|PAICS_uc003hbt.1_5'Flank|PAICS_uc003hbu.1_5'Flank|PAICS_uc010ihd.1_5'Flank	NM_002703	NP_002694	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	37	Glutamine amidotransferase type-2.				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding				0	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)									0.368421	42.340065	42.918364	14	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57301535	57301535	12732	4	G	A	A	A	468	36	PPAT	2	2
TMEM175	84286	broad.mit.edu	37	4	949544	949544	+	Silent	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:949544C>A	uc003gbq.2	+	c.708C>A	c.(706-708)GGC>GGA	p.G236G	TMEM175_uc010ibl.1_Silent_p.G236G|TMEM175_uc003gbp.1_Silent_p.G154G|TMEM175_uc003gbr.2_Silent_p.G154G|TMEM175_uc003gbu.2_Silent_p.G154G|TMEM175_uc003gbs.2_Silent_p.G119G|TMEM175_uc003gbt.2_Silent_p.G119G|TMEM175_uc003gbv.2_Silent_p.G119G|TMEM175_uc010ibm.2_Silent_p.G52G	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	transmembrane protein 175	236						integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)											0.363636	11.196585	11.376721	4	7	KEEP	---	---	---	---	capture		Silent	SNP	949544	949544	16625	4	C	A	A	A	327	26	TMEM175	2	2
SLIT3	6586	broad.mit.edu	37	5	168244331	168244331	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:168244331A>T	uc010jjg.2	-	c.767T>A	c.(766-768)GTG>GAG	p.V256E	SLIT3_uc003mab.2_Missense_Mutation_p.V256E|SLIT3_uc010jji.2_Missense_Mutation_p.V256E|SLIT3_uc003mac.1_Missense_Mutation_p.V53E	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	256	LRRCT 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)	3	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			Ovarian(29;311 847 10864 17279 24903)								0.352941	33.890641	34.538651	12	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168244331	168244331	15239	5	A	T	T	T	78	6	SLIT3	3	3
CDH18	1016	broad.mit.edu	37	5	19591214	19591214	+	Silent	SNP	T	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:19591214T>A	uc003jgc.2	-	c.951A>T	c.(949-951)TCA>TCT	p.S317S	CDH18_uc003jgd.2_Silent_p.S317S|CDH18_uc011cnm.1_Silent_p.S317S	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	317	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)	6	Lung NSC(1;0.00734)|all_lung(1;0.0197)													0.446429	72.965543	73.105738	25	31	KEEP	---	---	---	---	capture		Silent	SNP	19591214	19591214	3232	5	T	A	A	A	808	63	CDH18	3	3
ISL1	3670	broad.mit.edu	37	5	50683572	50683572	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:50683572T>A	uc003jor.2	+	c.467T>A	c.(466-468)CTG>CAG	p.L156Q		NM_002202	NP_002193	P61371	ISL1_HUMAN	islet-1	156					generation of precursor metabolites and energy|multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3		Lung NSC(810;0.000845)|Breast(144;0.0411)												0.470588	26.499132	26.511906	8	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50683572	50683572	8160	5	T	A	A	A	715	55	ISL1	3	3
SGTB	54557	broad.mit.edu	37	5	64976348	64976348	+	Silent	SNP	C	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:64976348C>T	uc003jud.2	-	c.654G>A	c.(652-654)TTG>TTA	p.L218L		NM_019072	NP_061945	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat	218							binding				0		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)										0.4	11.297676	11.385206	4	6	KEEP	---	---	---	---	capture		Silent	SNP	64976348	64976348	14717	5	C	T	T	T	376	29	SGTB	2	2
THBS4	7060	broad.mit.edu	37	5	79368108	79368108	+	Silent	SNP	A	G	G			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:79368108A>G	uc003kgh.2	+	c.1728A>G	c.(1726-1728)AAA>AAG	p.K576K		NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	576	TSP type-3 4.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)										0.310734	163.935395	169.597878	55	122	KEEP	---	---	---	---	capture		Silent	SNP	79368108	79368108	16384	5	A	G	G	G	11	1	THBS4	4	4
RASGRF2	5924	broad.mit.edu	37	5	80376547	80376547	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:80376547A>C	uc003kha.1	+	c.1100A>C	c.(1099-1101)GAA>GCA	p.E367A	RASGRF2_uc011ctn.1_Non-coding_Transcript|RASGRF2_uc003khb.1_Missense_Mutation_p.E195A	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	367	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|ovary(2)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)						847				0.108696	5.241428	12.222893	5	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80376547	80376547	13534	5	A	C	C	C	117	9	RASGRF2	4	4
POPDC3	64208	broad.mit.edu	37	6	105607676	105607676	+	Silent	SNP	A	G	G			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:105607676A>G	uc003prb.2	-	c.504T>C	c.(502-504)GAT>GAC	p.D168D	POPDC3_uc003pra.2_Non-coding_Transcript	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN	popeye protein 3	168						integral to membrane				ovary(2)|skin(1)	3		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)												0.28125	22.362651	23.738231	9	23	KEEP	---	---	---	---	capture		Silent	SNP	105607676	105607676	12685	6	A	G	G	G	102	8	POPDC3	4	4
SEC63	11231	broad.mit.edu	37	6	108227934	108227934	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:108227934T>C	uc003psc.3	-	c.781A>G	c.(781-783)AAT>GAT	p.N261D	SEC63_uc003psb.3_Missense_Mutation_p.N121D	NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN	SEC63-like protein	261	SEC63 1.|Cytoplasmic (Potential).				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			ovary(1)|skin(1)	2		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)										0.283186	93.172858	97.931471	32	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108227934	108227934	14491	6	T	C	C	C	793	61	SEC63	4	4
FRMD1	79981	broad.mit.edu	37	6	168479609	168479609	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:168479609C>T	uc003qwo.3	-	c.166G>A	c.(166-168)GTC>ATC	p.V56I		NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	FERM domain containing 1 isoform 1	56	FERM.					cytoskeleton	binding			ovary(1)	1		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)								0.205128	14.254134	17.434042	8	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168479609	168479609	6299	6	C	T	T	T	221	17	FRMD1	2	2
HDGFL1	154150	broad.mit.edu	37	6	22569903	22569903	+	Silent	SNP	C	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:22569903C>T	uc003nds.2	+	c.99C>T	c.(97-99)ACC>ACT	p.T33T		NM_138574	NP_612641	Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	33	PWWP.										0	Ovarian(93;0.163)													0.307692	19.286203	20.145925	8	18	KEEP	---	---	---	---	capture		Silent	SNP	22569903	22569903	7302	6	C	T	T	T	275	22	HDGFL1	2	2
SCAND3	114821	broad.mit.edu	37	6	28543125	28543125	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:28543125T>C	uc003nlo.2	-	c.1357A>G	c.(1357-1359)ATT>GTT	p.I453V		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	453	Integrase catalytic.				DNA integration|regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.210526	10.591204	12.062597	4	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28543125	28543125	14357	6	T	C	C	C	637	49	SCAND3	4	4
BAT4	7918	broad.mit.edu	37	6	31630177	31630177	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31630177C>A	uc003nvn.2	-	c.937G>T	c.(937-939)GAT>TAT	p.D313Y	C6orf47_uc003nvm.1_5'Flank|BAT4_uc003nvo.3_Missense_Mutation_p.D313Y|BAT4_uc003nvp.3_Missense_Mutation_p.D313Y|BAT4_uc003nvq.2_Missense_Mutation_p.D313Y	NM_033177	NP_149417	O95872	GPAN1_HUMAN	HLA-B associated transcript 4	313						intracellular	nucleic acid binding				0														0.227273	10.968159	12.467015	5	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31630177	31630177	1344	6	C	A	A	A	390	30	BAT4	2	2
C6orf222	389384	broad.mit.edu	37	6	36287308	36287308	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:36287308C>A	uc003oly.2	-	c.1748G>T	c.(1747-1749)CGC>CTC	p.R583L		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	hypothetical protein LOC389384	583										ovary(1)|breast(1)	2														0.171717	37.035059	47.10109	17	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36287308	36287308	2461	6	C	A	A	A	351	27	C6orf222	1	1
PPP2R5D	5528	broad.mit.edu	37	6	42976964	42976964	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:42976964A>T	uc003oth.2	+	c.1250A>T	c.(1249-1251)CAG>CTG	p.Q417L	MEA1_uc010jyc.1_Intron|PPP2R5D_uc003otg.2_Missense_Mutation_p.Q385L|PPP2R5D_uc010jyd.2_Missense_Mutation_p.Q311L|PPP2R5D_uc011dva.1_Missense_Mutation_p.Q266L|PPP2R5D_uc003oti.2_Missense_Mutation_p.Q266L|PPP2R5D_uc003otj.2_Missense_Mutation_p.Q248L	NM_006245	NP_006236	Q14738	2A5D_HUMAN	delta isoform of regulatory subunit B56, protein	417					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(1)	1			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			Melanoma(63;587 1613 29742 31770)						OREG0017447	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.409091	138.065495	138.856023	45	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42976964	42976964	12831	6	A	T	T	T	91	7	PPP2R5D	3	3
DST	667	broad.mit.edu	37	6	56371575	56371575	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:56371575C>G	uc003pdf.2	-	c.12895G>C	c.(12895-12897)GAA>CAA	p.E4299Q	DST_uc003pcz.3_Missense_Mutation_p.E4121Q|DST_uc011dxj.1_Missense_Mutation_p.E4150Q|DST_uc011dxk.1_Missense_Mutation_p.E4161Q|DST_uc003pcy.3_Missense_Mutation_p.E3795Q	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	6207	Spectrin 13.				cell adhesion|cell cycle arrest|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasmic membrane-bounded vesicle|hemidesmosome|microtubule plus end|nucleus	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding			ovary(7)|central_nervous_system(6)	13	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)							2498				0.317073	81.118682	83.559484	26	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56371575	56371575	4967	6	C	G	G	G	416	32	DST	3	3
HTR1E	3354	broad.mit.edu	37	6	87726013	87726013	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:87726013G>T	uc003pli.2	+	c.961G>T	c.(961-963)GTG>TTG	p.V321L		NM_000865	NP_000856	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E	321	Extracellular (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			ovary(2)	2		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)									0.240602	161.422845	177.722469	64	202	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87726013	87726013	7739	6	G	T	T	T	520	40	HTR1E	1	1
CNR1	1268	broad.mit.edu	37	6	88854039	88854039	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:88854039T>A	uc011dzq.1	-	c.955A>T	c.(955-957)ATC>TTC	p.I319F	CNR1_uc010kbz.2_Missense_Mutation_p.I319F|CNR1_uc011dzr.1_Missense_Mutation_p.I319F|CNR1_uc011dzs.1_Missense_Mutation_p.I319F|CNR1_uc003pmq.3_Missense_Mutation_p.I319F|CNR1_uc011dzt.1_Missense_Mutation_p.I319F|CNR1_uc010kca.2_Missense_Mutation_p.I286F	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	319	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding				0		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)									0.342466	74.042014	75.647637	25	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88854039	88854039	3769	6	T	A	A	A	663	51	CNR1	3	3
POU3F2	5454	broad.mit.edu	37	6	99283514	99283514	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:99283514C>A	uc003ppe.2	+	c.765C>A	c.(763-765)CAC>CAA	p.H255Q		NM_005604	NP_005595	P20265	PO3F2_HUMAN	POU domain, class 3, transcription factor 2	255					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)										0.2	20.34888	24.116389	9	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99283514	99283514	12705	6	C	A	A	A	233	18	POU3F2	2	2
ZAN	7455	broad.mit.edu	37	7	100362997	100362997	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100362997C>A	uc003uwj.2	+	c.4290C>A	c.(4288-4290)AGC>AGA	p.S1430R	ZAN_uc003uwk.2_Missense_Mutation_p.S1430R|ZAN_uc003uwl.2_Non-coding_Transcript|ZAN_uc010lhh.2_Non-coding_Transcript|ZAN_uc010lhi.2_Non-coding_Transcript|ZAN_uc011kkd.1_Missense_Mutation_p.S7R	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1430	TIL 2.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)											0.074074	-1.635654	8.420924	4	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100362997	100362997	18096	7	C	A	A	A	324	25	ZAN	2	2
SPAM1	6677	broad.mit.edu	37	7	123599760	123599760	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:123599760C>A	uc003vle.2	+	c.1267C>A	c.(1267-1269)CTT>ATT	p.L423I	SPAM1_uc011koa.1_Missense_Mutation_p.L79I|SPAM1_uc003vld.2_Missense_Mutation_p.L423I|SPAM1_uc003vlf.3_Missense_Mutation_p.L423I|SPAM1_uc010lku.2_Missense_Mutation_p.L423I	NM_003117	NP_003108	P38567	HYALP_HUMAN	sperm adhesion molecule 1 isoform 1	423					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			ovary(3)|kidney(1)	4					Hyaluronidase(DB00070)									0.175	28.498543	36.471493	14	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123599760	123599760	15489	7	C	A	A	A	260	20	SPAM1	2	2
HTR5A	3361	broad.mit.edu	37	7	154876127	154876127	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:154876127C>A	uc003wlu.1	+	c.1004C>A	c.(1003-1005)CCC>CAC	p.P335H		NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	335	Helical; Name=7; (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)										0.292929	68.37189	72.153068	29	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154876127	154876127	7750	7	C	A	A	A	286	22	HTR5A	2	2
NEUROD6	63974	broad.mit.edu	37	7	31378149	31378149	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:31378149T>C	uc003tch.2	-	c.734A>G	c.(733-735)GAA>GGA	p.E245G		NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	neurogenic differentiation 6	245					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription regulator activity			ovary(2)	2														0.217391	39.415266	44.476179	15	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31378149	31378149	10751	7	T	C	C	C	806	62	NEUROD6	4	4
NT5C3	51251	broad.mit.edu	37	7	33057180	33057180	+	Silent	SNP	T	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:33057180T>C	uc003tdk.2	-	c.579A>G	c.(577-579)CAA>CAG	p.Q193Q	AVL9_uc011kai.1_Intron|NT5C3_uc003tdi.2_Silent_p.Q154Q|NT5C3_uc003tdj.2_Silent_p.Q154Q	NM_001002010	NP_001002010	Q9H0P0	5NT3_HUMAN	5'-nucleotidase, cytosolic III isoform 1	193					nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol|endoplasmic reticulum	2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding			ovary(1)	1			GBM - Glioblastoma multiforme(11;0.0894)											0.185185	24.5199	29.535609	10	44	KEEP	---	---	---	---	capture		Silent	SNP	33057180	33057180	11093	7	T	C	C	C	777	60	NT5C3	4	4
INHBA	3624	broad.mit.edu	37	7	41729684	41729684	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:41729684T>C	uc003thq.2	-	c.845A>G	c.(844-846)GAT>GGT	p.D282G	INHBA_uc003thr.2_Missense_Mutation_p.D282G	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	282					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway|regulation of gene-specific transcription from RNA polymerase II promoter	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity|transcription activator activity			lung(5)|ovary(1)	6										102	TSP Lung(11;0.080)			0.318182	37.440816	38.730504	14	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41729684	41729684	8042	7	T	C	C	C	650	50	INHBA	4	4
PCLO	27445	broad.mit.edu	37	7	82585848	82585848	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:82585848T>C	uc003uhx.2	-	c.4421A>G	c.(4420-4422)GAA>GGA	p.E1474G	PCLO_uc003uhv.2_Missense_Mutation_p.E1474G	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1405					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity|zinc ion binding			ovary(7)	7														0.337838	79.355015	81.074605	25	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82585848	82585848	12003	7	T	C	C	C	806	62	PCLO	4	4
SEMA3A	10371	broad.mit.edu	37	7	83823799	83823799	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:83823799G>C	uc003uhz.2	-	c.104C>G	c.(103-105)TCC>TGC	p.S35C		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	35	Sema.				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4														0.294872	68.495971	71.431582	23	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83823799	83823799	14510	7	G	C	C	C	533	41	SEMA3A	3	3
C7orf64	84060	broad.mit.edu	37	7	92158932	92158932	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:92158932A>C	uc003ulz.2	+	c.254A>C	c.(253-255)GAC>GCC	p.D85A	PEX1_uc003uly.2_5'Flank|PEX1_uc011khr.1_5'Flank|PEX1_uc010ley.2_5'Flank|PEX1_uc011khs.1_5'Flank|C7orf64_uc011khu.1_Missense_Mutation_p.D85A|C7orf64_uc003uma.2_Missense_Mutation_p.D85A	NM_032120	NP_115496	Q5RL73	CG064_HUMAN	hypothetical protein LOC84060	85							nucleotide binding			ovary(2)	2														0.3	17.342896	18.057281	6	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92158932	92158932	2517	7	A	C	C	C	130	10	C7orf64	4	4
RGS22	26166	broad.mit.edu	37	8	101078438	101078438	+	Silent	SNP	T	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:101078438T>C	uc003yjb.1	-	c.681A>G	c.(679-681)GTA>GTG	p.V227V	RGS22_uc003yja.1_Silent_p.V46V|RGS22_uc003yjc.1_Silent_p.V215V|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	227					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|breast(1)|central_nervous_system(1)	5			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)							790				0.163265	15.567333	20.8532	8	41	KEEP	---	---	---	---	capture		Silent	SNP	101078438	101078438	13779	8	T	C	C	C	730	57	RGS22	4	4
DEFB136	613210	broad.mit.edu	37	8	11832060	11832060	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:11832060G>T	uc011kxm.1	-	c.49C>A	c.(49-51)CCT>ACT	p.P17T		NM_001033018	NP_001028190	Q30KP8	DB136_HUMAN	beta-defensin 136 precursor	17					defense response to bacterium	extracellular region					0			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.163)										0.152778	52.634679	77.485766	33	183	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11832060	11832060	4599	8	G	T	T	T	546	42	DEFB136	2	2
PUF60	22827	broad.mit.edu	37	8	144898802	144898802	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:144898802G>A	uc003yzs.2	-	c.1568C>T	c.(1567-1569)TCT>TTT	p.S523F	SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzr.2_Missense_Mutation_p.S463F|PUF60_uc003yzt.2_Missense_Mutation_p.S506F|PUF60_uc003yzq.2_Missense_Mutation_p.S480F	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa isoform a	523	RRM 3; atypical.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding				0	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)											0.148148	7.782246	10.990492	4	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144898802	144898802	13282	8	G	A	A	A	429	33	PUF60	2	2
EBF2	64641	broad.mit.edu	37	8	25899680	25899680	+	Silent	SNP	G	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:25899680G>T	uc003xes.1	-	c.219C>A	c.(217-219)CTC>CTA	p.L73L	PPP2R2A_uc003xek.2_Intron|EBF2_uc003xet.1_Silent_p.L73L	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	early B-cell factor 2	73					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|transcription regulator activity			ovary(3)	3		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)								0.129032	9.653791	17.967969	8	54	KEEP	---	---	---	---	capture		Silent	SNP	25899680	25899680	5067	8	G	T	T	T	418	33	EBF2	2	2
CLU	1191	broad.mit.edu	37	8	27472255	27472255	+	Missense_Mutation	SNP	T	C	C	rs2077086		TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:27472255T>C	uc003xfz.1	-	c.44A>G	c.(43-45)CAG>CGG	p.Q15R		NM_001831	NP_001822	P10909	CLUS_HUMAN	clusterin isoform 1	Error:Variant_position_missing_in_P10909_after_alignment					complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|release of cytochrome c from mitochondria|response to misfolded protein|response to virus|reverse cholesterol transport	mitochondrion|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding			ovary(2)	2		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)								OREG0018671	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.148148	5.386834	8.593072	4	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27472255	27472255	3706	8	T	C	C	C	715	55	CLU	4	4
CSMD1	64478	broad.mit.edu	37	8	2820774	2820774	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:2820774C>T	uc011kwk.1	-	c.9427G>A	c.(9427-9429)GTG>ATG	p.V3143M	CSMD1_uc011kwj.1_Missense_Mutation_p.V2472M|CSMD1_uc010lrg.2_Missense_Mutation_p.V1034M	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3143	Sushi 25.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)										0.232877	37.839157	42.608554	17	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2820774	2820774	4085	8	C	T	T	T	234	18	CSMD1	2	2
UNC5D	137970	broad.mit.edu	37	8	35616848	35616848	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:35616848C>T	uc003xjr.1	+	c.2174C>T	c.(2173-2175)TCA>TTA	p.S725L	UNC5D_uc003xjs.1_Missense_Mutation_p.S720L|UNC5D_uc003xju.1_Missense_Mutation_p.S301L	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	725	Cytoplasmic (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			ovary(2)|pancreas(1)	3				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)										0.20339	26.166308	30.986097	12	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35616848	35616848	17553	8	C	T	T	T	377	29	UNC5D	2	2
FBXO25	26260	broad.mit.edu	37	8	413123	413123	+	Silent	SNP	T	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:413123T>C	uc003wox.2	+	c.960T>C	c.(958-960)TGT>TGC	p.C320C	FBXO25_uc003woy.2_Silent_p.C320C|FBXO25_uc003woz.2_Silent_p.C253C|FBXO25_uc003wpa.2_Silent_p.C103C	NM_183421	NP_904357	Q8TCJ0	FBX25_HUMAN	F-box only protein 25 isoform 1	320						nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity			lung(1)	1		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)										0.074074	-0.150346	24.995321	10	125	KEEP	---	---	---	---	capture		Silent	SNP	413123	413123	5973	8	T	C	C	C	751	58	FBXO25	4	4
PDP1	54704	broad.mit.edu	37	8	94935198	94935198	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:94935198C>T	uc011lgn.1	+	c.1088C>T	c.(1087-1089)TCA>TTA	p.S363L	PDP1_uc003yge.2_Missense_Mutation_p.S304L|PDP1_uc003ygf.2_Missense_Mutation_p.S329L|PDP1_uc010max.2_Missense_Mutation_p.S329L|PDP1_uc011lgm.1_Missense_Mutation_p.S304L	NM_001161778	NP_001155250	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic	304					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.103448	2.202613	6.744573	3	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94935198	94935198	12106	8	C	T	T	T	377	29	PDP1	2	2
GALNT12	79695	broad.mit.edu	37	9	101599398	101599398	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:101599398C>G	uc004ayz.2	+	c.1180C>G	c.(1180-1182)CTC>GTC	p.L394V		NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN	N-acetylgalactosaminyltransferase 12	394	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)												0.306723	207.483695	215.416961	73	165	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101599398	101599398	6474	9	C	G	G	G	364	28	GALNT12	3	3
COL15A1	1306	broad.mit.edu	37	9	101806867	101806867	+	Silent	SNP	G	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:101806867G>A	uc004azb.1	+	c.2592G>A	c.(2590-2592)CCG>CCA	p.P864P		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	864	Triple-helical region 4 (COL4).				angiogenesis|cell adhesion|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding|extracellular matrix structural constituent			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)												0.269231	18.520293	19.76548	7	19	KEEP	---	---	---	---	capture		Silent	SNP	101806867	101806867	3810	9	G	A	A	A	496	39	COL15A1	1	1
ZNF483	158399	broad.mit.edu	37	9	114304933	114304933	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:114304933A>G	uc004bff.2	+	c.1718A>G	c.(1717-1719)CAT>CGT	p.H573R	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	zinc finger protein 483 isoform a	573	C2H2-type 5.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.189474	36.890532	45.465719	18	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114304933	114304933	18530	9	A	G	G	G	104	8	ZNF483	4	4
COL27A1	85301	broad.mit.edu	37	9	116931659	116931659	+	Silent	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:116931659C>A	uc011lxl.1	+	c.1824C>A	c.(1822-1824)GGC>GGA	p.G608G	COL27A1_uc004bii.2_Non-coding_Transcript|COL27A1_uc010mvd.1_Silent_p.G458G	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	608	Pro-rich.				cell adhesion		extracellular matrix structural constituent			ovary(3)	3														0.304348	18.721583	19.504204	7	16	KEEP	---	---	---	---	capture		Silent	SNP	116931659	116931659	3823	9	C	A	A	A	353	28	COL27A1	2	2
DFNB31	25861	broad.mit.edu	37	9	117168637	117168637	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:117168637C>A	uc004biz.3	-	c.2234G>T	c.(2233-2235)CGC>CTC	p.R745L	DFNB31_uc004bix.2_Missense_Mutation_p.R394L|DFNB31_uc004biy.3_Missense_Mutation_p.R362L|DFNB31_uc004bja.3_Missense_Mutation_p.R745L	NM_015404	NP_056219	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	745					inner ear receptor stereocilium organization|response to stimulus|retina homeostasis|sensory perception of sound|visual perception	cytoplasm|growth cone|stereocilium				ovary(4)|central_nervous_system(1)|pancreas(1)	6														0.326087	43.811574	45.044609	15	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117168637	117168637	4634	9	C	A	A	A	351	27	DFNB31	1	1
TNC	3371	broad.mit.edu	37	9	117848545	117848545	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:117848545C>T	uc004bjj.3	-	c.1465G>A	c.(1465-1467)GAC>AAC	p.D489N	TNC_uc010mvf.2_Missense_Mutation_p.D489N	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	489	EGF-like 11.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|ovary(1)	5														0.25	74.250473	81.516822	32	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117848545	117848545	16811	9	C	T	T	T	377	29	TNC	2	2
BARHL1	56751	broad.mit.edu	37	9	135464768	135464768	+	Silent	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:135464768C>A	uc004cbp.1	+	c.843C>A	c.(841-843)CGC>CGA	p.R281R		NM_020064	NP_064448	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	281					regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)										0.227273	22.173435	25.149349	10	34	KEEP	---	---	---	---	capture		Silent	SNP	135464768	135464768	1334	9	C	A	A	A	340	27	BARHL1	1	1
EHMT1	79813	broad.mit.edu	37	9	140693353	140693353	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:140693353A>T	uc011mfc.1	+	c.2594A>T	c.(2593-2595)GAC>GTC	p.D865V		NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	865	ANK 4.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)										0.327586	49.703045	51.23322	19	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140693353	140693353	5172	9	A	T	T	T	130	10	EHMT1	3	3
IFNA16	3449	broad.mit.edu	37	9	21217301	21217301	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:21217301C>A	uc003zor.1	-	c.4G>T	c.(4-6)GCC>TCC	p.A2S	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	interferon, alpha 16 precursor	2					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding				0				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)										0.3125	51.78158	53.782027	20	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21217301	21217301	7836	9	C	A	A	A	338	26	IFNA16	2	2
KIAA1539	80256	broad.mit.edu	37	9	35107982	35107982	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35107982G>A	uc003zwl.2	-	c.290C>T	c.(289-291)TCT>TTT	p.S97F	KIAA1539_uc003zwm.2_Missense_Mutation_p.S97F|KIAA1539_uc003zwn.2_Intron|KIAA1539_uc003zwo.2_Missense_Mutation_p.S97F|KIAA1539_uc003zwp.1_Missense_Mutation_p.S97F|KIAA1539_uc010mkk.1_Intron	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	hypothetical protein LOC80256	97						nucleus				ovary(1)	1	all_epithelial(49;0.217)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)											0.057692	-9.442178	11.914893	6	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35107982	35107982	8551	9	G	A	A	A	429	33	KIAA1539	2	2
PRUNE2	158471	broad.mit.edu	37	9	79326184	79326184	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:79326184C>T	uc010mpk.2	-	c.1006G>A	c.(1006-1008)GAG>AAG	p.E336K		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	336					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0														0.227273	12.563532	14.065279	5	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79326184	79326184	13092	9	C	T	T	T	416	32	PRUNE2	2	2
GKAP1	80318	broad.mit.edu	37	9	86357514	86357514	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:86357514C>T	uc004amy.2	-	c.906G>A	c.(904-906)ATG>ATA	p.M302I	GKAP1_uc004amz.2_Missense_Mutation_p.M251I	NM_025211	NP_079487	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1 isoform a	302	Potential.				signal transduction	Golgi apparatus					0														0.133333	3.575207	7.498325	4	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86357514	86357514	6691	9	C	T	T	T	377	29	GKAP1	2	2
IARS	3376	broad.mit.edu	37	9	95015646	95015646	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:95015646T>G	uc004art.1	-	c.2227A>C	c.(2227-2229)AAG>CAG	p.K743Q	IARS_uc004ars.1_Missense_Mutation_p.K588Q|IARS_uc004aru.3_Missense_Mutation_p.K743Q|IARS_uc010mqr.2_Missense_Mutation_p.K633Q|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	isoleucine tRNA synthetase	743					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)	1					L-Isoleucine(DB00167)									0.066667	-1.711071	7.047168	3	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95015646	95015646	7773	9	T	G	G	G	832	64	IARS	4	4
FGD3	89846	broad.mit.edu	37	9	95776272	95776272	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:95776272C>T	uc004asw.2	+	c.1174C>T	c.(1174-1176)CTC>TTC	p.L392F	FGD3_uc004asx.2_Missense_Mutation_p.L392F|FGD3_uc004asz.2_Missense_Mutation_p.L392F|FGD3_uc004ata.2_Missense_Mutation_p.L195F|FGD3_uc011luc.1_5'Flank	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	392	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|small GTPase binding|zinc ion binding			ovary(1)|breast(1)	2														0.08	0.369218	9.358845	4	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95776272	95776272	6071	9	C	T	T	T	312	24	FGD3	2	2
GPR112	139378	broad.mit.edu	37	X	135432048	135432048	+	Silent	SNP	T	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135432048T>C	uc004ezu.1	+	c.6183T>C	c.(6181-6183)TCT>TCC	p.S2061S	GPR112_uc010nsb.1_Silent_p.S1856S|GPR112_uc010nsc.1_Silent_p.S1828S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	2061	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	11	Acute lymphoblastic leukemia(192;0.000127)									487				0.343949	152.388641	155.820317	54	103	KEEP	---	---	---	---	capture		Silent	SNP	135432048	135432048	6903	23	T	C	C	C	704	55	GPR112	4	4
MAGEA10	4109	broad.mit.edu	37	X	151303501	151303501	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:151303501C>A	uc004ffk.2	-	c.592G>T	c.(592-594)GGC>TGC	p.G198C	MAGEA10_uc004ffl.2_Missense_Mutation_p.G198C	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	198	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)													0.166667	18.141183	23.829573	9	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151303501	151303501	9541	23	C	A	A	A	273	21	MAGEA10	2	2
GABRQ	55879	broad.mit.edu	37	X	151820167	151820167	+	Silent	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:151820167C>A	uc004ffp.1	+	c.1080C>A	c.(1078-1080)CGC>CGA	p.R360R		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) receptor, theta	360						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.287879	48.19761	50.861196	19	47	KEEP	---	---	---	---	capture		Silent	SNP	151820167	151820167	6426	23	C	A	A	A	327	26	GABRQ	2	2
MAGEA3	4102	broad.mit.edu	37	X	151935513	151935513	+	Silent	SNP	C	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:151935513C>T	uc004fgp.2	-	c.654G>A	c.(652-654)GAG>GAA	p.E218E		NM_005362	NP_005353	P43357	MAGA3_HUMAN	melanoma antigen family A, 3	218	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)													0.253731	93.594423	100.965126	34	100	KEEP	---	---	---	---	capture		Silent	SNP	151935513	151935513	9546	23	C	T	T	T	311	24	MAGEA3	2	2
PNCK	139728	broad.mit.edu	37	X	152936415	152936415	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:152936415G>T	uc011myu.1	-	c.1013C>A	c.(1012-1014)CCC>CAC	p.P338H	PNCK_uc011myt.1_Missense_Mutation_p.P272H|PNCK_uc004fia.2_Missense_Mutation_p.P290H|PNCK_uc004fhz.3_Missense_Mutation_p.P153H	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	pregnancy upregulated non-ubiquitously expressed	255	Protein kinase.				protein phosphorylation	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)									91				0.276316	49.781042	53.182306	21	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152936415	152936415	12571	23	G	T	T	T	559	43	PNCK	2	2
OPN1LW	5956	broad.mit.edu	37	X	153421993	153421993	+	Silent	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153421993C>A	uc004fjz.3	+	c.969C>A	c.(967-969)GTC>GTA	p.V323V		NM_020061	NP_064445	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	323	Helical; Name=7; (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity				0	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)													0.255814	80.40931	87.389329	33	96	KEEP	---	---	---	---	capture		Silent	SNP	153421993	153421993	11283	23	C	A	A	A	405	32	OPN1LW	2	2
MPP1	4354	broad.mit.edu	37	X	154007590	154007590	+	Silent	SNP	G	T	T			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:154007590G>T	uc004fmp.1	-	c.1263C>A	c.(1261-1263)GCC>GCA	p.A421A	MPP1_uc010nvg.1_Silent_p.A401A|MPP1_uc011mzv.1_Silent_p.A391A|MPP1_uc004fmq.1_Silent_p.A375A|MPP1_uc011mzw.1_Silent_p.A404A	NM_002436	NP_002427	Q00013	EM55_HUMAN	palmitoylated membrane protein 1	421	Guanylate kinase-like.|Interaction with MPP5.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			ovary(2)|central_nervous_system(1)	3	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)													0.091954	3.439898	18.023249	8	79	KEEP	---	---	---	---	capture		Silent	SNP	154007590	154007590	10125	23	G	T	T	T	600	47	MPP1	2	2
BEND2	139105	broad.mit.edu	37	X	18213466	18213466	+	Missense_Mutation	SNP	G	T	T	rs28496595		TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:18213466G>T	uc004cyj.3	-	c.1130C>A	c.(1129-1131)ACG>AAG	p.T377K	BEND2_uc010nfb.2_Intron	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	377										ovary(3)|kidney(1)|central_nervous_system(1)	5														0.208333	21.421835	25.205504	10	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18213466	18213466	1421	23	G	T	T	T	520	40	BEND2	1	1
PHKA2	5256	broad.mit.edu	37	X	18926946	18926946	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:18926946T>C	uc004cyv.3	-	c.2333A>G	c.(2332-2334)GAC>GGC	p.D778G	PHKA2_uc004cyu.3_Missense_Mutation_p.D76G|PHKA2_uc010nfe.1_5'Flank|PHKA2_uc010nff.1_5'Flank	NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	778					glucose metabolic process|glycogen catabolic process|protein modification process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)													0.276316	60.451007	63.868615	21	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18926946	18926946	12268	23	T	C	C	C	754	58	PHKA2	4	4
AKAP4	8852	broad.mit.edu	37	X	49957059	49957059	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:49957059T>A	uc004dow.1	-	c.2305A>T	c.(2305-2307)AGC>TGC	p.S769C	AKAP4_uc004dov.1_Missense_Mutation_p.S386C|AKAP4_uc010njp.1_Missense_Mutation_p.S591C|AKAP4_uc004dou.1_Missense_Mutation_p.S760C	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	769					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)	7	Ovarian(276;0.236)									119				0.259259	17.712394	19.129926	7	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49957059	49957059	456	23	T	A	A	A	689	53	AKAP4	3	3
MTMR8	55613	broad.mit.edu	37	X	63444978	63444978	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:63444978G>A	uc011mou.1	-	c.1678C>T	c.(1678-1680)CTC>TTC	p.L560F	ASB12_uc004dvp.1_Missense_Mutation_p.L176F|ASB12_uc004dvq.1_Missense_Mutation_p.L185F|ASB12_uc004dvr.1_Missense_Mutation_p.L185F	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	Error:Variant_position_missing_in_Q96EF0_after_alignment						nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4														0.554054	137.981586	138.169595	41	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63444978	63444978	10342	23	G	A	A	A	455	35	MTMR8	2	2
NAP1L2	4674	broad.mit.edu	37	X	72433353	72433353	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:72433353C>A	uc004ebi.2	-	c.976G>T	c.(976-978)GAG>TAG	p.E326*	NAP1L2_uc011mqj.1_Nonsense_Mutation_p.E184*	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	326					nucleosome assembly	chromatin assembly complex				lung(1)	1	Renal(35;0.156)													0.390244	140.870341	142.168923	48	75	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	72433353	72433353	10553	23	C	A	A	A	377	29	NAP1L2	5	2
RAVER1	125950	broad.mit.edu	37	19	10433827	10433828	+	Frame_Shift_Ins	INS	-	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10433827_10433828insC	uc002moa.2	-	c.1122_1123insG	c.(1120-1125)GGGAAGfs	p.G374fs		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	RAVER1	357_358	Interaction with PTBP1 (By similarity).					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)											0.33			3	6		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	10433827	10433828	13555	19	-	C	C	C	806	62	RAVER1	5	5
TRIO	7204	broad.mit.edu	37	5	14487780	14487781	+	Frame_Shift_Ins	INS	-	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:14487780_14487781insC	uc003jff.2	+	c.7043_7044insC	c.(7042-7044)CACfs	p.H2348fs	TRIO_uc003jfg.2_Non-coding_Transcript|TRIO_uc003jfh.1_Frame_Shift_Ins_p.H1997fs	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2348					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|breast(2)|stomach(1)|kidney(1)	16	Lung NSC(4;0.000742)									1300				0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	14487780	14487781	17102	5	-	C	C	C	78	6	TRIO	5	5
EMD	2010	broad.mit.edu	37	X	153608114	153608115	+	Frame_Shift_Ins	INS	-	C	C			TCGA-17-Z043-01	TCGA-17-Z043-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153608114_153608115insC	uc004fkl.2	+	c.147_148insC	c.(145-150)TCGCCCfs	p.S49fs		NM_000117	NP_000108	P50402	EMD_HUMAN	emerin	49_50	Interaction with F-actin (Probable).				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)													0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	153608114	153608115	5279	23	-	C	C	C	483	38	EMD	5	5
