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
SORCS1	114815	broad.mit.edu	37	10	108427477	108427477	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:108427477C>A	uc001kyl.2	-	c.2273G>T	c.(2272-2274)AGC>ATC	p.S758I	SORCS1_uc001kym.2_Missense_Mutation_p.S758I|SORCS1_uc009xxs.2_Missense_Mutation_p.S758I|SORCS1_uc001kyn.1_Missense_Mutation_p.S758I|SORCS1_uc001kyo.2_Missense_Mutation_p.S758I	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform b	758	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)	1		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)										0.236842	19.651559	22.061052	9	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108427477	108427477	15430	10	C	A	A	A	364	28	SORCS1	2	2
CASP7	840	broad.mit.edu	37	10	115481472	115481472	+	Silent	SNP	C	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:115481472C>T	uc001lao.2	+	c.409C>T	c.(409-411)CTG>TTG	p.L137L	CASP7_uc001lam.2_Silent_p.L104L|CASP7_uc001lan.2_Silent_p.L104L|CASP7_uc001lap.2_Silent_p.L104L|CASP7_uc001laq.2_Silent_p.L104L|CASP7_uc010qsa.1_Silent_p.L189L|CASP7_uc010qsb.1_Silent_p.L79L	NM_033338	NP_203124	P55210	CASP7_HUMAN	caspase 7 isoform delta	104					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			ovary(1)	1		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)						231				0.281081	144.31677	152.288259	52	133	KEEP	---	---	---	---	capture		Silent	SNP	115481472	115481472	2795	10	C	T	T	T	311	24	CASP7	2	2
ZEB1	6935	broad.mit.edu	37	10	31809437	31809437	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:31809437C>A	uc001ivu.3	+	c.1177C>A	c.(1177-1179)CAA>AAA	p.Q393K	ZEB1_uc001ivr.3_Missense_Mutation_p.Q174K|ZEB1_uc010qee.1_Missense_Mutation_p.Q174K|ZEB1_uc010qef.1_Missense_Mutation_p.Q174K|ZEB1_uc009xlj.1_Missense_Mutation_p.Q318K|ZEB1_uc010qeg.1_Missense_Mutation_p.Q251K|ZEB1_uc009xlk.1_Missense_Mutation_p.Q174K|ZEB1_uc001ivs.3_Missense_Mutation_p.Q392K|ZEB1_uc001ivt.3_Missense_Mutation_p.Q174K|ZEB1_uc001ivv.3_Missense_Mutation_p.Q372K|ZEB1_uc010qeh.1_Missense_Mutation_p.Q325K|ZEB1_uc009xlo.1_Missense_Mutation_p.Q375K|ZEB1_uc009xlp.2_Missense_Mutation_p.Q376K	NM_030751	NP_001121600	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	392					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription repressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				Ovarian(40;423 959 14296 36701 49589)								0.189189	26.502727	33.195203	14	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31809437	31809437	18211	10	C	A	A	A	325	25	ZEB1	2	2
FRMPD2	143162	broad.mit.edu	37	10	49371639	49371639	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:49371639G>T	uc001jgi.2	-	c.3613C>A	c.(3613-3615)CAA>AAA	p.Q1205K	FRMPD2_uc001jgh.2_Missense_Mutation_p.Q1173K|FRMPD2_uc001jgj.2_Missense_Mutation_p.Q1183K|FRMPD2L1_uc001jgf.2_Missense_Mutation_p.Q216K|FRMPD2_uc001jgg.2_Missense_Mutation_p.Q157K|FRMPD2_uc001jgk.2_Missense_Mutation_p.Q157K	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	1205					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)										0.195876	38.264986	46.63215	19	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49371639	49371639	6308	10	G	T	T	T	585	45	FRMPD2	2	2
PCDH15	65217	broad.mit.edu	37	10	55581628	55581628	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:55581628G>T	uc010qhy.1	-	c.5879C>A	c.(5878-5880)ACT>AAT	p.T1960N	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Missense_Mutation_p.T807N|PCDH15_uc010qhv.1_Missense_Mutation_p.T1950N|PCDH15_uc010qhw.1_Missense_Mutation_p.T1913N|PCDH15_uc010qhx.1_Missense_Mutation_p.T1884N|PCDH15_uc010qhz.1_Missense_Mutation_p.T1955N|PCDH15_uc010qia.1_Missense_Mutation_p.T1933N|PCDH15_uc001jju.1_Missense_Mutation_p.T1953N|PCDH15_uc010qib.1_Missense_Mutation_p.T1930N	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-1 precursor	1953	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				0.194444	29.410177	35.680136	14	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55581628	55581628	11931	10	G	T	T	T	468	36	PCDH15	2	2
HKDC1	80201	broad.mit.edu	37	10	71005913	71005913	+	Silent	SNP	C	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:71005913C>T	uc001jpf.3	+	c.954C>T	c.(952-954)CTC>CTT	p.L318L	HKDC1_uc010qje.1_Silent_p.L181L	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	318					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			ovary(4)	4														0.28125	65.577488	69.710922	27	69	KEEP	---	---	---	---	capture		Silent	SNP	71005913	71005913	7484	10	C	T	T	T	379	30	HKDC1	2	2
SFMBT2	57713	broad.mit.edu	37	10	7214469	7214469	+	Silent	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:7214469C>A	uc009xio.1	-	c.2139G>T	c.(2137-2139)GCG>GCT	p.A713A	SFMBT2_uc001ijn.1_Silent_p.A713A|SFMBT2_uc010qay.1_Silent_p.A548A	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	713						nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6														0.285714	21.889061	23.042422	8	20	KEEP	---	---	---	---	capture		Silent	SNP	7214469	7214469	14647	10	C	A	A	A	288	23	SFMBT2	1	1
ADAMTS14	140766	broad.mit.edu	37	10	72434357	72434357	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:72434357C>A	uc001jrg.2	+	c.128C>A	c.(127-129)CCC>CAC	p.P43H	ADAMTS14_uc001jrh.2_Missense_Mutation_p.P43H	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	43					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)	5														0.230769	49.638435	56.554861	24	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72434357	72434357	260	10	C	A	A	A	286	22	ADAMTS14	2	2
CCDC109A	90550	broad.mit.edu	37	10	74631166	74631166	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:74631166A>G	uc001jtc.2	+	c.689A>G	c.(688-690)AAG>AGG	p.K230R	CCDC109A_uc009xqp.1_Non-coding_Transcript|CCDC109A_uc009xqq.1_Non-coding_Transcript|CCDC109A_uc010qjy.1_Non-coding_Transcript|CCDC109A_uc009xqr.2_Missense_Mutation_p.K209R|CCDC109A_uc001jtd.2_Missense_Mutation_p.K181R	NM_138357	NP_612366	Q8NE86	C109A_HUMAN	coiled-coil domain containing 109A	230						integral to membrane					0	Prostate(51;0.0198)													0.224832	201.87204	222.597233	67	231	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74631166	74631166	2864	10	A	G	G	G	39	3	CCDC109A	4	4
TTC18	118491	broad.mit.edu	37	10	75072314	75072314	+	Nonsense_Mutation	SNP	T	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:75072314T>A	uc009xrc.2	-	c.1210A>T	c.(1210-1212)AAA>TAA	p.K404*	TTC18_uc001jty.2_Nonsense_Mutation_p.K404*|TTC18_uc009xrd.1_Nonsense_Mutation_p.K212*	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	404							binding			ovary(2)|central_nervous_system(1)	3	Prostate(51;0.0119)													0.246637	129.398819	142.451232	55	168	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	75072314	75072314	17239	10	T	A	A	A	819	63	TTC18	5	3
ANXA11	311	broad.mit.edu	37	10	81926685	81926685	+	Silent	SNP	C	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:81926685C>T	uc010qlx.1	-	c.1005G>A	c.(1003-1005)CGG>CGA	p.R335R	ANXA11_uc001kbq.1_Silent_p.R235R|ANXA11_uc001kbr.1_Silent_p.R235R|ANXA11_uc001kbs.1_Silent_p.R235R|ANXA11_uc001kbt.1_Silent_p.R235R|ANXA11_uc010qly.1_Silent_p.R202R|ANXA11_uc009xsq.1_Silent_p.R235R|ANXA11_uc001kbu.1_Silent_p.R235R	NM_145869	NP_665876	P50995	ANX11_HUMAN	annexin A11	235	Annexin 1.				cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			ovary(1)	1	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)											0.428571	24.969874	25.063664	9	12	KEEP	---	---	---	---	capture		Silent	SNP	81926685	81926685	724	10	C	T	T	T	327	26	ANXA11	2	2
LRIT2	340745	broad.mit.edu	37	10	85984092	85984092	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:85984092C>A	uc010qmc.1	-	c.889G>T	c.(889-891)GAT>TAT	p.D297Y	LRIT2_uc001kcy.2_Missense_Mutation_p.D297Y	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	leucine rich repeat containing 22 precursor	297	Ig-like.					integral to membrane				ovary(2)	2														0.307692	27.180977	28.469479	12	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85984092	85984092	9321	10	C	A	A	A	377	29	LRIT2	2	2
ZNF518A	9849	broad.mit.edu	37	10	97920261	97920261	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:97920261C>T	uc001klp.2	+	c.4183C>T	c.(4183-4185)CCT>TCT	p.P1395S	ZNF518A_uc001klo.1_3'UTR|ZNF518A_uc001klq.2_3'UTR|ZNF518A_uc001klr.2_3'UTR	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	zinc finger protein 518	1395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)										0.185185	18.401435	23.453504	10	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97920261	97920261	18556	10	C	T	T	T	275	22	ZNF518A	2	2
NCAM1	4684	broad.mit.edu	37	11	113102506	113102506	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:113102506T>A	uc009yyq.1	+	c.953T>A	c.(952-954)CTT>CAT	p.L318H		NM_001076682	NP_001070150	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1 isoform 3	410	Ig-like C2-type 4.|Extracellular (Potential).				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)						700				0.25	82.603495	91.015931	37	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113102506	113102506	10601	11	T	A	A	A	728	56	NCAM1	3	3
ZW10	9183	broad.mit.edu	37	11	113614613	113614613	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:113614613C>A	uc001poe.2	-	c.1422G>T	c.(1420-1422)TTG>TTT	p.L474F	ZW10_uc009yyv.2_Non-coding_Transcript	NM_004724	NP_004715	O43264	ZW10_HUMAN	centromere/kinetochore protein zw10	474					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)	1		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)										0.32	161.57128	167.363465	64	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113614613	113614613	18852	11	C	A	A	A	324	25	ZW10	2	2
SORL1	6653	broad.mit.edu	37	11	121429318	121429318	+	Silent	SNP	C	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:121429318C>T	uc001pxx.2	+	c.2682C>T	c.(2680-2682)GAC>GAT	p.D894D		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	894	Extracellular (Potential).|LDL-receptor class B 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	13		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)						937				0.088889	3.775949	49.914318	24	246	KEEP	---	---	---	---	capture		Silent	SNP	121429318	121429318	15434	11	C	T	T	T	259	20	SORL1	2	2
HSPA8	3312	broad.mit.edu	37	11	122931962	122931962	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:122931962C>T	uc001pyo.2	-	c.71G>A	c.(70-72)GGA>GAA	p.G24E	HSPA8_uc009zbc.2_5'Flank|HSPA8_uc001pyp.2_Missense_Mutation_p.G24E|HSPA8_uc010rzu.1_Missense_Mutation_p.G24E|HSPA8_uc009zbd.1_Missense_Mutation_p.G24E|HSPA8_uc010rzv.1_Missense_Mutation_p.G24E	NM_006597	NP_006588	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8 isoform 1	24					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding|transcription repressor activity			central_nervous_system(7)|lung(1)	8		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		Colon(21;486 594 5900 6733 14272)								0.09375	3.602458	19.530818	9	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122931962	122931962	7715	11	C	T	T	T	390	30	HSPA8	2	2
ROBO3	64221	broad.mit.edu	37	11	124738967	124738967	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124738967G>T	uc001qbc.2	+	c.430G>T	c.(430-432)GTG>TTG	p.V144L		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3	144	Ig-like C2-type 1.|Extracellular (Potential).				axon midline choice point recognition	integral to membrane	receptor activity			breast(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)										0.466667	22.071572	22.080365	7	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124738967	124738967	13994	11	G	T	T	T	520	40	ROBO3	1	1
IGSF9B	22997	broad.mit.edu	37	11	133789800	133789800	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:133789800C>A	uc001qgx.3	-	c.3820G>T	c.(3820-3822)GGC>TGC	p.G1274C		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1274	Pro-rich.|Cytoplasmic (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)										0.333333	20.829902	21.572988	10	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133789800	133789800	7907	11	C	A	A	A	286	22	IGSF9B	2	2
SOX6	55553	broad.mit.edu	37	11	16071447	16071447	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:16071447C>G	uc001mme.2	-	c.1328G>C	c.(1327-1329)CGA>CCA	p.R443P	SOX6_uc001mmd.2_Missense_Mutation_p.R392P|SOX6_uc001mmf.2_Missense_Mutation_p.R389P|SOX6_uc001mmg.2_Missense_Mutation_p.R430P	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6 isoform 4	430					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3														0.116667	40.177367	74.919883	28	212	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16071447	16071447	15455	11	C	G	G	G	403	31	SOX6	3	3
ANO3	63982	broad.mit.edu	37	11	26463539	26463539	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:26463539G>T	uc001mqt.3	+	c.121G>T	c.(121-123)GCC>TCC	p.A41S	ANO3_uc010rdr.1_Missense_Mutation_p.A25S	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	41	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.468599	309.402572	309.575227	97	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26463539	26463539	706	11	G	T	T	T	494	38	ANO3	1	1
LRRC4C	57689	broad.mit.edu	37	11	40136961	40136961	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:40136961C>A	uc001mxa.1	-	c.882G>T	c.(880-882)GAG>GAT	p.E294D	LRRC4C_uc001mxc.1_Missense_Mutation_p.E290D|LRRC4C_uc001mxd.1_Missense_Mutation_p.E290D|LRRC4C_uc001mxb.1_Missense_Mutation_p.E290D	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	netrin-G1 ligand precursor	294					regulation of axonogenesis	integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5		all_lung(304;0.0575)|Lung NSC(402;0.138)												0.139535	40.270036	67.328719	30	185	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40136961	40136961	9383	11	C	A	A	A	363	28	LRRC4C	2	2
OR52K1	390036	broad.mit.edu	37	11	4510855	4510855	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4510855C>A	uc001lza.1	+	c.725C>A	c.(724-726)ACA>AAA	p.T242K		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K,	242	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)										0.565217	410.166567	411.017252	130	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4510855	4510855	11533	11	C	A	A	A	221	17	OR52K1	2	2
NUP160	23279	broad.mit.edu	37	11	47808067	47808067	+	Silent	SNP	T	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:47808067T>C	uc001ngm.2	-	c.3786A>G	c.(3784-3786)GCA>GCG	p.A1262A	NUP160_uc009ylw.2_Non-coding_Transcript	NM_015231	NP_056046	Q12769	NU160_HUMAN	nucleoporin 160kDa	1262					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			ovary(4)|lung(1)|central_nervous_system(1)	6														0.529412	102.806388	102.858628	36	32	KEEP	---	---	---	---	capture		Silent	SNP	47808067	47808067	11162	11	T	C	C	C	704	55	NUP160	4	4
FOLH1	2346	broad.mit.edu	37	11	49204738	49204738	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:49204738G>T	uc001ngy.2	-	c.883C>A	c.(883-885)CAT>AAT	p.H295N	FOLH1_uc001ngz.2_Missense_Mutation_p.H295N|FOLH1_uc009yly.2_Missense_Mutation_p.H280N|FOLH1_uc009ylz.2_Missense_Mutation_p.H280N|FOLH1_uc009yma.2_5'UTR	NM_004476	NP_004467	Q04609	FOLH1_HUMAN	folate hydrolase 1 isoform 1	295	NAALADase.|Extracellular (Probable).				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			large_intestine(1)	1					Capromab(DB00089)|L-Glutamic Acid(DB00142)									0.346939	85.215437	87.244311	34	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49204738	49204738	6221	11	G	T	T	T	585	45	FOLH1	2	2
OR51G2	81282	broad.mit.edu	37	11	4936463	4936463	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4936463G>C	uc001lzr.1	-	c.431C>G	c.(430-432)ACA>AGA	p.T144R		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G,	144	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.484848	56.599166	56.605755	16	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4936463	4936463	11509	11	G	C	C	C	624	48	OR51G2	3	3
OR51V1	283111	broad.mit.edu	37	11	5221019	5221019	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5221019C>A	uc010qyz.1	-	c.912G>T	c.(910-912)AAG>AAT	p.K304N		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V,	304	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.491228	76.994417	76.99825	28	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5221019	5221019	11517	11	C	A	A	A	415	32	OR51V1	2	2
OR5T2	219464	broad.mit.edu	37	11	55999812	55999812	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55999812G>C	uc010rjc.1	-	c.850C>G	c.(850-852)CTA>GTA	p.L284V		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	284	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)													0.206226	126.181853	146.708626	53	204	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55999812	55999812	11592	11	G	C	C	C	451	35	OR5T2	3	3
OR5M9	390162	broad.mit.edu	37	11	56230498	56230498	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56230498G>T	uc010rjj.1	-	c.380C>A	c.(379-381)CCT>CAT	p.P127H		NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M,	127	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(21;0.00448)													0.197917	35.363048	43.528388	19	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56230498	56230498	11587	11	G	T	T	T	455	35	OR5M9	2	2
OR5B3	441608	broad.mit.edu	37	11	58170869	58170869	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:58170869G>A	uc010rkf.1	-	c.14C>T	c.(13-15)ACA>ATA	p.T5I		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B,	5	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(5;0.0027)	Breast(21;0.0778)												0.213793	62.35409	73.326784	31	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58170869	58170869	11562	11	G	A	A	A	624	48	OR5B3	2	2
MS4A12	54860	broad.mit.edu	37	11	60264840	60264840	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60264840C>T	uc001npr.2	+	c.49C>T	c.(49-51)CCC>TCC	p.P17S	MS4A12_uc009ynb.2_Missense_Mutation_p.P17S	NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member	17	Cytoplasmic (Potential).					integral to membrane	receptor activity				0														0.204225	61.086973	72.623397	29	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60264840	60264840	10249	11	C	T	T	T	234	18	MS4A12	2	2
SLC15A3	51296	broad.mit.edu	37	11	60711180	60711180	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60711180T>C	uc001nqn.2	-	c.977A>G	c.(976-978)TAC>TGC	p.Y326C	SLC15A3_uc001nqo.2_Missense_Mutation_p.Y326C	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	solute carrier family 15, member 3	326	Helical; (Potential).				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity				0														0.35	48.243243	49.034931	14	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60711180	60711180	14895	11	T	C	C	C	741	57	SLC15A3	4	4
DAGLA	747	broad.mit.edu	37	11	61511535	61511535	+	Silent	SNP	C	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:61511535C>G	uc001nsa.2	+	c.2703C>G	c.(2701-2703)CGC>CGG	p.R901R		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	901	Cytoplasmic (Potential).				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)										0.188679	25.406432	30.14609	10	43	KEEP	---	---	---	---	capture		Silent	SNP	61511535	61511535	4393	11	C	G	G	G	327	26	DAGLA	3	3
CNGA4	1262	broad.mit.edu	37	11	6261575	6261575	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6261575G>T	uc001mco.2	+	c.551G>T	c.(550-552)AGC>ATC	p.S184I	CNGA4_uc010raa.1_Intron|CNGA4_uc001mcn.2_Missense_Mutation_p.S144I	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	184	Helical; Name=H4; (Potential).				response to stimulus|sensory perception of smell		cAMP binding				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.544118	217.467762	217.701041	74	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6261575	6261575	3737	11	G	T	T	T	442	34	CNGA4	2	2
PLA2G16	11145	broad.mit.edu	37	11	63342429	63342429	+	Silent	SNP	T	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:63342429T>C	uc001nxi.2	-	c.513A>G	c.(511-513)CGA>CGG	p.R171R	PLA2G16_uc001nxh.2_Silent_p.R159R|PLA2G16_uc009you.1_Silent_p.R159R	NM_007069	NP_009000	P53816	PAG16_HUMAN	HRAS-like suppressor 3	159					lipid catabolic process	integral to membrane|perinuclear region of cytoplasm	phospholipase A2 activity|protein binding			ovary(1)	1														0.38806	180.734169	182.215627	52	82	KEEP	---	---	---	---	capture		Silent	SNP	63342429	63342429	12419	11	T	C	C	C	743	58	PLA2G16	4	4
RAD9A	5883	broad.mit.edu	37	11	67159667	67159667	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:67159667G>T	uc001okr.2	+	c.70G>T	c.(70-72)GGG>TGG	p.G24W		NM_004584	NP_004575	Q99638	RAD9A_HUMAN	RAD9 homolog	24					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding				0			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)											0.310345	22.156376	23.090506	9	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67159667	67159667	13455	11	G	T	T	T	507	39	RAD9A	1	1
MYO7A	4647	broad.mit.edu	37	11	76916626	76916626	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:76916626C>A	uc001oyb.2	+	c.5600C>A	c.(5599-5601)GCC>GAC	p.A1867D	MYO7A_uc001oyc.2_Missense_Mutation_p.A1829D|MYO7A_uc001oye.2_Non-coding_Transcript	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	1867	MyTH4 2.				actin filament-based movement|equilibrioception|eye photoreceptor cell development|lysosome organization|response to stimulus|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4														0.2	10.460598	12.553622	5	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76916626	76916626	10477	11	C	A	A	A	338	26	MYO7A	2	2
ODZ4	26011	broad.mit.edu	37	11	78412990	78412990	+	Silent	SNP	C	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:78412990C>T	uc001ozl.3	-	c.4668G>A	c.(4666-4668)GGG>GGA	p.G1556G	ODZ4_uc009yvb.1_Silent_p.G140G	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1556	NHL 5.|Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4														0.328	106.817037	110.104203	41	84	KEEP	---	---	---	---	capture		Silent	SNP	78412990	78412990	11242	11	C	T	T	T	379	30	ODZ4	2	2
GRM5	2915	broad.mit.edu	37	11	88583213	88583213	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:88583213C>T	uc001pcq.2	-	c.772G>A	c.(772-774)GAT>AAT	p.D258N	GRM5_uc009yvm.2_Missense_Mutation_p.D258N	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	258	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(1)	5		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)									0.403226	65.855008	66.36466	25	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88583213	88583213	7079	11	C	T	T	T	377	29	GRM5	2	2
NAALAD2	10003	broad.mit.edu	37	11	89883721	89883721	+	Silent	SNP	C	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:89883721C>T	uc001pdf.3	+	c.555C>T	c.(553-555)AAC>AAT	p.N185N	NAALAD2_uc009yvx.2_Silent_p.N185N|NAALAD2_uc009yvy.2_Silent_p.N185N|NAALAD2_uc001pdd.2_Silent_p.N185N|NAALAD2_uc001pde.2_Silent_p.N185N	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	185	Extracellular (Potential).				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)												0.340659	87.392196	89.436684	31	60	KEEP	---	---	---	---	capture		Silent	SNP	89883721	89883721	10523	11	C	T	T	T	259	20	NAALAD2	2	2
FAT3	120114	broad.mit.edu	37	11	92507263	92507263	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92507263G>T	uc001pdj.3	+	c.4252G>T	c.(4252-4254)GCA>TCA	p.A1418S		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1418	Cadherin 13.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.34	95.515759	97.780473	34	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92507263	92507263	5927	11	G	T	T	T	494	38	FAT3	1	1
ANO4	121601	broad.mit.edu	37	12	101477524	101477524	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:101477524G>T	uc010svm.1	+	c.1464G>T	c.(1462-1464)AAG>AAT	p.K488N	ANO4_uc001thw.2_Missense_Mutation_p.K453N|ANO4_uc001thx.2_Missense_Mutation_p.K488N|ANO4_uc001thy.2_Intron	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	488	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(4)	4														0.627907	251.68995	253.547233	81	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101477524	101477524	707	12	G	T	T	T	438	34	ANO4	2	2
STAB2	55576	broad.mit.edu	37	12	104100609	104100609	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:104100609C>A	uc001tjw.2	+	c.4036C>A	c.(4036-4038)CAG>AAG	p.Q1346K		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	1346	Extracellular (Potential).|Laminin EGF-like 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(1)	10														0.644231	195.716062	197.613148	67	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104100609	104100609	15756	12	C	A	A	A	273	21	STAB2	2	2
MYO1H	283446	broad.mit.edu	37	12	109853423	109853423	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:109853423A>T	uc010sxn.1	+	c.1547A>T	c.(1546-1548)AAG>ATG	p.K516M		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	myosin 1H	Error:Variant_position_missing_in_B4DNW6_after_alignment						myosin complex	motor activity				0														0.588235	28.350114	28.465327	10	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109853423	109853423	10470	12	A	T	T	T	39	3	MYO1H	3	3
PLBD2	196463	broad.mit.edu	37	12	113824835	113824835	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:113824835G>C	uc001tve.2	+	c.1380G>C	c.(1378-1380)CAG>CAC	p.Q460H	PLBD2_uc001tvf.2_Missense_Mutation_p.Q428H	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2 isoform 1	460					lipid catabolic process	lysosomal lumen	hydrolase activity				0														0.536	228.326254	228.466696	67	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113824835	113824835	12452	12	G	C	C	C	425	33	PLBD2	3	3
TBX3	6926	broad.mit.edu	37	12	115111974	115111974	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:115111974G>A	uc001tvt.1	-	c.1766C>T	c.(1765-1767)TCT>TTT	p.S589F	TBX3_uc001tvu.1_Missense_Mutation_p.S569F	NM_016569	NP_057653	O15119	TBX3_HUMAN	T-box 3 protein isoform 2	589	Transcription repression.				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	general transcriptional repressor activity|RNA polymerase II transcription factor activity|sequence-specific DNA binding			ovary(2)	2	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)										0.384615	14.071348	14.223286	5	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115111974	115111974	16185	12	G	A	A	A	429	33	TBX3	2	2
KNTC1	9735	broad.mit.edu	37	12	123072257	123072257	+	Splice_Site_SNP	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:123072257G>T	uc001ucv.2	+	c.3731_splice	c.e39-1	p.G1244_splice	KNTC1_uc010taf.1_Intron	NM_014708	NP_055523			Rough Deal homolog, centromere/kinetochore						cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)										0.615385	46.502872	46.806383	16	10	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	123072257	123072257	8742	12	G	T	T	T	455	35	KNTC1	5	2
TMEM132D	121256	broad.mit.edu	37	12	129822193	129822193	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:129822193C>A	uc009zyl.1	-	c.1285G>T	c.(1285-1287)GTG>TTG	p.V429L		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	429	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)	12	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)										0.573394	395.191725	396.215409	125	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129822193	129822193	16579	12	C	A	A	A	221	17	TMEM132D	2	2
C12orf72	254013	broad.mit.edu	37	12	31814989	31814989	+	Missense_Mutation	SNP	T	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:31814989T>G	uc009zjr.2	+	c.102T>G	c.(100-102)TGT>TGG	p.C34W	C12orf72_uc001rkl.2_Missense_Mutation_p.C34W|C12orf72_uc001rkm.2_Missense_Mutation_p.C34W	NM_001135864	NP_001129336	Q8IXQ9	MET20_HUMAN	hypothetical protein LOC254013	34						cytoplasm	protein methyltransferase activity				0														0.579787	396.694631	397.738724	109	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31814989	31814989	1758	12	T	G	G	G	751	58	C12orf72	4	4
C12orf35	55196	broad.mit.edu	37	12	32137950	32137950	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:32137950G>C	uc001rks.2	+	c.4061G>C	c.(4060-4062)GGA>GCA	p.G1354A	C12orf35_uc001rkt.2_5'Flank	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	1354										ovary(1)	1	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)											0.664062	330.919205	333.967894	85	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32137950	32137950	1726	12	G	C	C	C	533	41	C12orf35	3	3
SCN8A	6334	broad.mit.edu	37	12	52200170	52200170	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52200170G>A	uc001ryw.2	+	c.4900G>A	c.(4900-4902)GCC>ACC	p.A1634T		NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	1634	IV.|Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier|voltage-gated sodium channel complex	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)									0.118519	25.838817	64.345225	32	238	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52200170	52200170	14406	12	G	A	A	A	494	38	SCN8A	1	1
KRT85	3891	broad.mit.edu	37	12	52760934	52760934	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52760934C>A	uc001sag.2	-	c.256G>T	c.(256-258)GGC>TGC	p.G86C		NM_002283	NP_002274	P78386	KRT85_HUMAN	keratin 85	86	Head.				epidermis development	keratin filament	protein binding|structural molecule activity			ovary(1)	1	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)										0.527273	68.440064	68.473634	29	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52760934	52760934	8814	12	C	A	A	A	286	22	KRT85	2	2
KRT2	3849	broad.mit.edu	37	12	53040627	53040627	+	Silent	SNP	A	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53040627A>G	uc001sat.2	-	c.1366T>C	c.(1366-1368)TTG>CTG	p.L456L		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2	456	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.19)										0.128571	36.457522	55.264593	18	122	KEEP	---	---	---	---	capture		Silent	SNP	53040627	53040627	8772	12	A	G	G	G	37	3	KRT2	4	4
KRT1	3848	broad.mit.edu	37	12	53073922	53073922	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53073922C>T	uc001sau.1	-	c.211G>A	c.(211-213)GGT>AGT	p.G71S	KRT1_uc001sav.1_Missense_Mutation_p.G71S	NM_006121	NP_006112	P04264	K2C1_HUMAN	keratin 1	71	Head.|Gly/Phe/Ser-rich.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			ovary(1)	1														0.588235	32.651725	32.767072	10	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53073922	53073922	8762	12	C	T	T	T	273	21	KRT1	2	2
PTPRR	5801	broad.mit.edu	37	12	71054797	71054797	+	Silent	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:71054797G>T	uc001swi.1	-	c.1689C>A	c.(1687-1689)CCC>CCA	p.P563P	PTPRR_uc001swf.1_Non-coding_Transcript|PTPRR_uc001swg.1_Non-coding_Transcript|PTPRR_uc001swh.1_Silent_p.P318P|PTPRR_uc009zrs.2_Silent_p.P412P|PTPRR_uc010stq.1_Silent_p.P451P|PTPRR_uc010str.1_3'UTR	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	563	Tyrosine-protein phosphatase.|Cytoplasmic (Potential).				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(1)|skin(1)	2			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)										0.65	36.474202	36.869493	13	7	KEEP	---	---	---	---	capture		Silent	SNP	71054797	71054797	13268	12	G	T	T	T	548	43	PTPRR	2	2
NAV3	89795	broad.mit.edu	37	12	78513629	78513629	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:78513629C>A	uc001syp.2	+	c.3653C>A	c.(3652-3654)CCC>CAC	p.P1218H	NAV3_uc001syo.2_Missense_Mutation_p.P1218H|NAV3_uc010sub.1_Missense_Mutation_p.P718H|NAV3_uc009zsf.2_Missense_Mutation_p.P226H	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1218	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16										1091				0.520408	143.021686	143.057259	51	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78513629	78513629	10581	12	C	A	A	A	286	22	NAV3	2	2
LATS2	26524	broad.mit.edu	37	13	21620119	21620119	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:21620119C>A	uc009zzs.2	-	c.47G>T	c.(46-48)CGG>CTG	p.R16L	LATS2_uc001unr.3_Missense_Mutation_p.R16L	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	16					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|protein phosphorylation	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(3)|ovary(2)|pancreas(1)	9		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)						174				0.303922	83.785956	87.285957	31	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21620119	21620119	8970	13	C	A	A	A	299	23	LATS2	1	1
PABPC3	5042	broad.mit.edu	37	13	25670983	25670983	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:25670983C>A	uc001upy.2	+	c.647C>A	c.(646-648)CCC>CAC	p.P216H		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	216	RRM 3.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			ovary(3)|skin(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)										0.286822	88.514399	93.778711	37	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25670983	25670983	11780	13	C	A	A	A	286	22	PABPC3	2	2
MTUS2	23281	broad.mit.edu	37	13	29599385	29599385	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:29599385G>T	uc001usl.3	+	c.580G>T	c.(580-582)GTA>TTA	p.V194L		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	184						cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0										344				0.306452	49.707634	51.775897	19	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29599385	29599385	10359	13	G	T	T	T	624	48	MTUS2	2	2
STARD13	90627	broad.mit.edu	37	13	33741717	33741717	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:33741717C>G	uc001uuw.2	-	c.212G>C	c.(211-213)GGG>GCG	p.G71A	STARD13_uc001uuu.2_Missense_Mutation_p.G63A|STARD13_uc001uuv.2_5'UTR|STARD13_uc001uux.2_Missense_Mutation_p.G36A|STARD13_uc010tec.1_Non-coding_Transcript|STARD13_uc010abh.1_Missense_Mutation_p.G56A	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	71	SAM.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)	3	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)										0.283019	39.206777	41.445706	15	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33741717	33741717	15775	13	C	G	G	G	286	22	STARD13	3	3
EPSTI1	94240	broad.mit.edu	37	13	43474465	43474465	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:43474465G>T	uc001uyw.1	-	c.829C>A	c.(829-831)CAC>AAC	p.H277N	EPSTI1_uc001uyx.1_Missense_Mutation_p.H266N	NM_001002264	NP_001002264	Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 isoform 1	277	Potential.									ovary(1)	1		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)										0.219512	39.000638	44.947629	18	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43474465	43474465	5391	13	G	T	T	T	611	47	EPSTI1	2	2
PCDH17	27253	broad.mit.edu	37	13	58299073	58299073	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:58299073C>A	uc001vhq.1	+	c.3125C>A	c.(3124-3126)GCG>GAG	p.A1042E	PCDH17_uc010aec.1_Missense_Mutation_p.A1041E|PCDH17_uc001vhr.1_Missense_Mutation_p.A131E	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	1042	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(2)|pancreas(2)	4		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		Melanoma(72;952 1291 1619 12849 33676)								0.328125	60.857784	62.531847	21	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58299073	58299073	11932	13	C	A	A	A	351	27	PCDH17	1	1
SLITRK1	114798	broad.mit.edu	37	13	84455381	84455381	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:84455381G>T	uc001vlk.2	-	c.262C>A	c.(262-264)CAC>AAC	p.H88N		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	88	Extracellular (Potential).|LRR 2.					integral to membrane				ovary(2)|central_nervous_system(1)	3	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)										0.351351	71.625255	73.068668	26	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84455381	84455381	15240	13	G	T	T	T	598	46	SLITRK1	2	2
GPC6	10082	broad.mit.edu	37	13	93879811	93879811	+	Silent	SNP	C	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:93879811C>T	uc001vlt.2	+	c.102C>T	c.(100-102)CGC>CGT	p.R34R	GPC6_uc010tig.1_Silent_p.R34R	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	glypican 6 precursor	34						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)										OREG0022460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.479167	61.789343	61.808921	23	25	KEEP	---	---	---	---	capture		Silent	SNP	93879811	93879811	6876	13	C	T	T	T	327	26	GPC6	2	2
DOCK9	23348	broad.mit.edu	37	13	99481647	99481647	+	Nonsense_Mutation	SNP	T	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:99481647T>A	uc001vnt.2	-	c.4813A>T	c.(4813-4815)AAA>TAA	p.K1605*	DOCK9_uc001vnw.2_Nonsense_Mutation_p.K1604*|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Nonsense_Mutation_p.K1605*|DOCK9_uc001vnq.2_Nonsense_Mutation_p.K177*|DOCK9_uc001vnr.2_Nonsense_Mutation_p.K248*|DOCK9_uc010tin.1_Nonsense_Mutation_p.K248*|DOCK9_uc001vns.2_Nonsense_Mutation_p.K177*|DOCK9_uc010tio.1_Nonsense_Mutation_p.K297*|DOCK9_uc010tip.1_Nonsense_Mutation_p.K315*|DOCK9_uc001vnu.1_Nonsense_Mutation_p.K177*|DOCK9_uc010tiq.1_Nonsense_Mutation_p.K583*	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1605	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)													0.454545	27.648058	27.687418	10	12	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	99481647	99481647	4878	13	T	A	A	A	819	63	DOCK9	5	3
AHNAK2	113146	broad.mit.edu	37	14	105420473	105420473	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105420473T>A	uc010axc.1	-	c.1315A>T	c.(1315-1317)AGG>TGG	p.R439W	AHNAK2_uc001ypx.2_Missense_Mutation_p.R339W	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	439						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)											0.362637	82.348545	83.859382	33	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105420473	105420473	418	14	T	A	A	A	713	55	AHNAK2	3	3
OR4K17	390436	broad.mit.edu	37	14	20586105	20586106	+	Nonsense_Mutation	DNP	GC	AA	AA			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20586105_20586106GC>AA	uc001vwo.1	+	c.540_541GC>AA	c.(538-543)TGGCTC>TGAATC	p.180_181WL>*I		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K,	152_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)										0.157407	27.001687	39.102627	17	91	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	20586105	20586106	11481	14	GC	AA	AA	AA	546	42	OR4K17	5	2
OR10G2	26534	broad.mit.edu	37	14	22102444	22102444	+	Silent	SNP	G	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:22102444G>A	uc010tmc.1	-	c.555C>T	c.(553-555)GAC>GAT	p.D185D		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G,	185	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)										0.174312	30.24402	41.176424	19	90	KEEP	---	---	---	---	capture		Silent	SNP	22102444	22102444	11305	14	G	A	A	A	620	48	OR10G2	2	2
AKAP6	9472	broad.mit.edu	37	14	33046386	33046386	+	Nonsense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:33046386G>T	uc001wrq.2	+	c.2407G>T	c.(2407-2409)GAG>TAG	p.E803*	AKAP6_uc010aml.2_Nonsense_Mutation_p.E800*	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	803	Spectrin 1.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|large_intestine(2)|lung(2)|pancreas(1)	16	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		Melanoma(49;821 1200 7288 13647 42351)				483				0.140244	27.798583	48.319663	23	141	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	33046386	33046386	458	14	G	T	T	T	429	33	AKAP6	5	2
AKAP6	9472	broad.mit.edu	37	14	33293096	33293096	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:33293096G>T	uc001wrq.2	+	c.6077G>T	c.(6076-6078)GGA>GTA	p.G2026V		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	2026					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|large_intestine(2)|lung(2)|pancreas(1)	16	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		Melanoma(49;821 1200 7288 13647 42351)				483				0.317647	64.589491	67.105328	27	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33293096	33293096	458	14	G	T	T	T	533	41	AKAP6	2	2
FBXO33	254170	broad.mit.edu	37	14	39870542	39870542	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:39870542C>G	uc001wvk.2	-	c.1234G>C	c.(1234-1236)GAT>CAT	p.D412H		NM_203301	NP_976046	Q7Z6M2	FBX33_HUMAN	F-box protein 33	412											0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)										0.147727	29.412457	39.901966	13	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39870542	39870542	5980	14	C	G	G	G	377	29	FBXO33	3	3
TXNDC16	57544	broad.mit.edu	37	14	52923870	52923870	+	Silent	SNP	T	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:52923870T>A	uc001wzs.2	-	c.1641A>T	c.(1639-1641)GCA>GCT	p.A547A	TXNDC16_uc010tqu.1_Silent_p.A542A|TXNDC16_uc010aoe.2_Non-coding_Transcript	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16 isoform 1	547					cell redox homeostasis	extracellular region					0	Breast(41;0.0716)													0.289855	55.774234	58.503611	20	49	KEEP	---	---	---	---	capture		Silent	SNP	52923870	52923870	17351	14	T	A	A	A	704	55	TXNDC16	3	3
SPTB	6710	broad.mit.edu	37	14	65266574	65266574	+	Nonsense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:65266574C>A	uc001xhr.2	-	c.955G>T	c.(955-957)GAG>TAG	p.E319*	SPTB_uc001xhs.2_Nonsense_Mutation_p.E319*|SPTB_uc001xht.2_Nonsense_Mutation_p.E319*|SPTB_uc001xhu.2_Nonsense_Mutation_p.E319*	NM_001024858	NP_001020029	P11277	SPTB1_HUMAN	spectrin beta isoform a	319	Spectrin 1.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|lung(1)|central_nervous_system(1)	9		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)								OREG0022735	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.272059	80.607653	86.988223	37	99	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	65266574	65266574	15632	14	C	A	A	A	403	31	SPTB	5	1
ZFYVE26	23503	broad.mit.edu	37	14	68219064	68219064	+	Silent	SNP	G	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:68219064G>A	uc001xka.2	-	c.7368C>T	c.(7366-7368)CCC>CCT	p.P2456P	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkb.2_Silent_p.P302P	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2456					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	phosphatidylinositol-3-phosphate binding|protein binding|zinc ion binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)										0.241379	18.009566	19.779552	7	22	KEEP	---	---	---	---	capture		Silent	SNP	68219064	68219064	18258	14	G	A	A	A	548	43	ZFYVE26	2	2
RGS6	9628	broad.mit.edu	37	14	72924983	72924983	+	Missense_Mutation	SNP	A	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:72924983A>C	uc010ttp.1	+	c.33A>C	c.(31-33)GAA>GAC	p.E11D	RGS6_uc010ttn.1_Missense_Mutation_p.E80D|RGS6_uc001xna.3_Missense_Mutation_p.E80D|RGS6_uc001xmx.3_Missense_Mutation_p.E80D|RGS6_uc010tto.1_Non-coding_Transcript|RGS6_uc001xmy.3_Missense_Mutation_p.E80D|RGS6_uc001xmz.1_5'Flank|RGS6_uc010arg.2_Non-coding_Transcript	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	80	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			upper_aerodigestive_tract(1)|lung(1)	2				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		Ovarian(143;1926 2468 21071 48641)								0.114583	17.658465	31.708979	11	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72924983	72924983	13783	14	A	C	C	C	37	3	RGS6	4	4
DCAF4	26094	broad.mit.edu	37	14	73421133	73421133	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:73421133G>T	uc001xng.2	+	c.947G>T	c.(946-948)GGA>GTA	p.G316V	DCAF4_uc001xnj.2_Missense_Mutation_p.G317V|DCAF4_uc010ttr.1_Missense_Mutation_p.G295V|DCAF4_uc001xnh.2_Missense_Mutation_p.G216V|DCAF4_uc010tts.1_Missense_Mutation_p.G256V|DCAF4_uc010ttt.1_Missense_Mutation_p.G102V|DCAF4_uc001xni.2_Intron|DCAF4_uc001xnk.2_Missense_Mutation_p.G316V	NM_015604	NP_056419	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4 isoform 1	316					protein ubiquitination	CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)	2														0.116883	5.516931	16.649921	9	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73421133	73421133	4441	14	G	T	T	T	533	41	DCAF4	2	2
KCNK13	56659	broad.mit.edu	37	14	90650865	90650865	+	Missense_Mutation	SNP	G	A	A	rs115329697	by1000genomes	TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:90650865G>A	uc001xye.1	+	c.745G>A	c.(745-747)GCC>ACC	p.A249T		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	249						integral to membrane	potassium channel activity|voltage-gated ion channel activity				0		all_cancers(154;0.186)												0.211382	50.386509	59.862141	26	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90650865	90650865	8366	14	G	A	A	A	494	38	KCNK13	1	1
CATSPERB	79820	broad.mit.edu	37	14	92054420	92054420	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:92054420G>A	uc001xzs.1	-	c.2959C>T	c.(2959-2961)CAC>TAC	p.H987Y	CATSPERB_uc010aub.1_Missense_Mutation_p.H509Y	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	cation channel, sperm-associated, beta	987					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(2)|ovary(1)	3		all_cancers(154;0.0663)|all_epithelial(191;0.236)								637				0.392857	29.315908	29.598219	11	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92054420	92054420	2810	14	G	A	A	A	624	48	CATSPERB	2	2
PRIMA1	145270	broad.mit.edu	37	14	94203694	94203694	+	Silent	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94203694G>T	uc001ybw.1	-	c.252C>A	c.(250-252)CCC>CCA	p.P84P	PRIMA1_uc001ybx.1_Non-coding_Transcript	NM_178013	NP_821092	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1 precursor	84	Extracellular (Potential).				neurotransmitter catabolic process	cell junction|integral to membrane|synapse				large_intestine(1)	1		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)										0.215686	22.39281	26.20153	11	40	KEEP	---	---	---	---	capture		Silent	SNP	94203694	94203694	12935	14	G	T	T	T	600	47	PRIMA1	2	2
SERPINA5	5104	broad.mit.edu	37	14	95053860	95053861	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:95053860_95053861GG>TT	uc001ydm.2	+	c.161_162GG>TT	c.(160-162)AGG>ATT	p.R54I	SERPINA5_uc010ave.2_Missense_Mutation_p.R54I|SERPINA5_uc001ydn.1_Missense_Mutation_p.R54I	NM_000624	NP_000615	P05154	IPSP_HUMAN	serine (or cysteine) proteinase inhibitor, clade	54					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			ovary(2)	2				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)									0.24	28.173217	31.260287	12	38	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	95053860	95053861	14580	14	GG	TT	TT	TT	455	35	SERPINA5	2	2
SERPINA3	12	broad.mit.edu	37	14	95088697	95088697	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:95088697C>G	uc001ydo.3	+	c.1012C>G	c.(1012-1014)CTG>GTG	p.L338V	SERPINA3_uc001ydr.2_Non-coding_Transcript|SERPINA3_uc001ydq.2_Missense_Mutation_p.L313V|SERPINA3_uc001ydp.2_Missense_Mutation_p.L313V|SERPINA3_uc001yds.2_Missense_Mutation_p.L313V|SERPINA3_uc010avg.2_Missense_Mutation_p.L313V	NM_001085	NP_001076	P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A, member 3	313					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)|large_intestine(1)	5		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)										0.196629	80.417191	95.685767	35	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95088697	95088697	14578	14	C	G	G	G	311	24	SERPINA3	3	3
GABRB3	2562	broad.mit.edu	37	15	26806188	26806188	+	Missense_Mutation	SNP	T	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:26806188T>G	uc001zbb.2	-	c.1139A>C	c.(1138-1140)TAT>TCT	p.Y380S	GABRB3_uc010uae.1_Missense_Mutation_p.Y239S|GABRB3_uc001zaz.2_Missense_Mutation_p.Y324S|GABRB3_uc001zba.2_Missense_Mutation_p.Y324S	NM_021912	NP_068712	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	324	Helical; (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	4		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)									0.1875	47.010438	55.77431	18	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26806188	26806188	6419	15	T	G	G	G	637	49	GABRB3	4	4
HERC2	8924	broad.mit.edu	37	15	28457728	28457728	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:28457728A>G	uc001zbj.2	-	c.6788T>C	c.(6787-6789)CTC>CCC	p.L2263P		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2263					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of mitotic metaphase/anaphase transition	anaphase-promoting complex	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(2)|central_nervous_system(1)	11		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)						1580				0.232558	25.53021	28.345013	10	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28457728	28457728	7341	15	A	G	G	G	143	11	HERC2	4	4
RYR3	6263	broad.mit.edu	37	15	33926924	33926924	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:33926924C>A	uc001zhi.2	+	c.3165C>A	c.(3163-3165)GAC>GAA	p.D1055E	RYR3_uc010bar.2_Missense_Mutation_p.D1055E	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1055	2.|B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)										0.369048	84.248613	85.495984	31	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33926924	33926924	14250	15	C	A	A	A	233	18	RYR3	2	2
AQR	9716	broad.mit.edu	37	15	35176875	35176875	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:35176875C>A	uc001ziv.2	-	c.2878G>T	c.(2878-2880)GAT>TAT	p.D960Y		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	960					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)										0.451613	75.184591	75.31198	28	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35176875	35176875	846	15	C	A	A	A	416	32	AQR	2	2
ELL3	80237	broad.mit.edu	37	15	44066902	44066902	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:44066902T>C	uc001zsw.1	-	c.715A>G	c.(715-717)AGC>GGC	p.S239G	ELL3_uc001zsv.1_Missense_Mutation_p.S193G|ELL3_uc001zsx.1_Missense_Mutation_p.S124G	NM_025165	NP_079441	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	239					positive regulation of transcription from RNA polymerase II promoter, global|spermatogenesis|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex	positive transcription elongation factor activity|RNA polymerase II transcription elongation factor activity			ovary(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)										0.229592	139.8819	153.013144	45	151	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44066902	44066902	5256	15	T	C	C	C	728	56	ELL3	4	4
SPG11	80208	broad.mit.edu	37	15	44876526	44876526	+	Silent	SNP	G	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:44876526G>A	uc001ztx.2	-	c.5352C>T	c.(5350-5352)GCC>GCT	p.A1784A	SPG11_uc010bdw.2_Silent_p.A73A|SPG11_uc010ueh.1_Silent_p.A1784A|SPG11_uc010uei.1_Silent_p.A1784A|SPG11_uc001zty.1_Silent_p.A513A	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	1784	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)	4		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)										0.304348	18.521422	19.304154	7	16	KEEP	---	---	---	---	capture		Silent	SNP	44876526	44876526	15553	15	G	A	A	A	548	43	SPG11	2	2
SLC12A1	6557	broad.mit.edu	37	15	48524927	48524927	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:48524927C>A	uc001zwn.3	+	c.979C>A	c.(979-981)CAA>AAA	p.Q327K	SLC12A1_uc010uew.1_Missense_Mutation_p.Q133K|SLC12A1_uc010bem.2_Missense_Mutation_p.Q327K|SLC12A1_uc010uex.1_Missense_Mutation_p.Q327K|SLC12A1_uc001zwq.3_Missense_Mutation_p.Q98K|SLC12A1_uc001zwr.3_Missense_Mutation_p.Q54K	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	327	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)									0.445652	113.649627	113.888006	41	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48524927	48524927	14877	15	C	A	A	A	273	21	SLC12A1	2	2
CGNL1	84952	broad.mit.edu	37	15	57809044	57809044	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:57809044G>A	uc002aeg.2	+	c.2470G>A	c.(2470-2472)GTG>ATG	p.V824M	CGNL1_uc010bfw.2_Missense_Mutation_p.V824M	NM_032866	NP_116255	Q0VF96	CGNL1_HUMAN	cingulin-like 1	824	Potential.					myosin complex|tight junction	motor activity			ovary(4)|central_nervous_system(1)	5				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)										0.18	16.349782	21.162126	9	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57809044	57809044	3437	15	G	A	A	A	520	40	CGNL1	1	1
MAN2C1	4123	broad.mit.edu	37	15	75648297	75648297	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:75648297G>A	uc002baf.2	-	c.3073C>T	c.(3073-3075)CCC>TCC	p.P1025S	MIR631_hsa-mir-631|MI0003645_5'Flank|MAN2C1_uc002bag.2_Missense_Mutation_p.P1002S|MAN2C1_uc002bah.2_Missense_Mutation_p.P1042S|MAN2C1_uc010bkk.2_Missense_Mutation_p.P926S	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	1025					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding				0														0.295455	32.655336	34.303791	13	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75648297	75648297	9601	15	G	A	A	A	533	41	MAN2C1	2	2
CPEB1	64506	broad.mit.edu	37	15	83226624	83226624	+	Silent	SNP	T	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:83226624T>A	uc002bit.2	-	c.672A>T	c.(670-672)TCA>TCT	p.S224S	CPEB1_uc002biq.2_Silent_p.S89S|CPEB1_uc002bir.2_Silent_p.S89S|CPEB1_uc002bis.2_Silent_p.S89S|CPEB1_uc010uod.1_Intron|CPEB1_uc010uoe.1_Silent_p.S167S|CPEB1_uc002biu.2_Silent_p.S191S|CPEB1_uc010uof.1_Silent_p.S89S|CPEB1_uc002biv.2_Silent_p.S164S|CPEB1_uc002bip.2_5'Flank	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding	164					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(143;0.229)											0.512195	122.819323	122.82924	42	40	KEEP	---	---	---	---	capture		Silent	SNP	83226624	83226624	3938	15	T	A	A	A	704	55	CPEB1	3	3
CIITA	4261	broad.mit.edu	37	16	11000871	11000871	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:11000871G>C	uc002daj.3	+	c.1525G>C	c.(1525-1527)GAT>CAT	p.D509H	CIITA_uc002dai.3_Missense_Mutation_p.D508H|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Missense_Mutation_p.D508H|CIITA_uc002dah.2_Missense_Mutation_p.D460H|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	508	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of collagen biosynthetic process|negative regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of MHC class II biosynthetic process|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|promoter binding|protein C-terminus binding|protein complex binding|RNA polymerase II transcription factor activity|transcription activator activity|transcription coactivator activity|transcription repressor activity			central_nervous_system(1)	1										532				0.15625	34.959771	45.791304	15	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11000871	11000871	3562	16	G	C	C	C	429	33	CIITA	3	3
MKL2	57496	broad.mit.edu	37	16	14345836	14345836	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:14345836G>T	uc010uza.1	+	c.2521G>T	c.(2521-2523)GCT>TCT	p.A841S	MKL2_uc002dcg.2_Missense_Mutation_p.A791S|MKL2_uc002dcj.2_Missense_Mutation_p.A86S	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	megakaryoblastic leukemia 2 protein	830					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	identical protein binding|nucleic acid binding|transcription coactivator activity			ovary(3)|kidney(1)|pancreas(1)	5														0.397436	173.290218	174.733505	62	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14345836	14345836	9992	16	G	T	T	T	598	46	MKL2	2	2
TMEM204	79652	broad.mit.edu	37	16	1604883	1604883	+	Silent	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1604883C>A	uc002cmc.2	+	c.537C>A	c.(535-537)GCC>GCA	p.A179A	IFT140_uc002clz.2_Intron|IFT140_uc002cmb.2_Intron|TMEM204_uc002cmd.2_Silent_p.A179A|TMEM204_uc010brr.1_Silent_p.A179A	NM_024600	NP_078876	Q9BSN7	TM204_HUMAN	transmembrane protein 204	179	Helical; (Potential).				response to stress	adherens junction|integral to membrane					0		Hepatocellular(780;0.219)												0.301887	37.670757	39.533889	16	37	KEEP	---	---	---	---	capture		Silent	SNP	1604883	1604883	16664	16	C	A	A	A	262	21	TMEM204	2	2
ACSM2B	348158	broad.mit.edu	37	16	20551983	20551983	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20551983G>C	uc002dhj.3	-	c.1622C>G	c.(1621-1623)CCA>CGA	p.P541R	ACSM2B_uc002dhk.3_Missense_Mutation_p.P541R	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member	541	Coenzyme A binding (By similarity).				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			ovary(1)|central_nervous_system(1)	2														0.145455	42.580653	62.540562	24	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20551983	20551983	185	16	G	C	C	C	611	47	ACSM2B	3	3
ANKS4B	257629	broad.mit.edu	37	16	21262123	21262123	+	Silent	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:21262123G>T	uc010bwp.1	+	c.1236G>T	c.(1234-1236)CTG>CTT	p.L412L	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	harmonin-interacting ankyrin-repeat containing	412										ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0565)										0.277778	70.396541	75.201053	30	78	KEEP	---	---	---	---	capture		Silent	SNP	21262123	21262123	699	16	G	T	T	T	600	47	ANKS4B	2	2
CACNG3	10368	broad.mit.edu	37	16	24268274	24268274	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:24268274T>A	uc002dmf.2	+	c.199T>A	c.(199-201)TGC>AGC	p.C67S		NM_006539	NP_006530	O60359	CCG3_HUMAN	voltage-dependent calcium channel gamma-3	67					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0				GBM - Glioblastoma multiforme(48;0.0809)										0.274194	45.252742	48.097751	17	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24268274	24268274	2674	16	T	A	A	A	715	55	CACNG3	3	3
MGRN1	23295	broad.mit.edu	37	16	4727537	4727537	+	Silent	SNP	C	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:4727537C>G	uc002cxb.2	+	c.1146C>G	c.(1144-1146)CCC>CCG	p.P382P	MGRN1_uc002cxa.2_Silent_p.P343P|MGRN1_uc002cwz.2_Silent_p.P343P|MGRN1_uc010btx.2_Silent_p.P344P|MGRN1_uc010btw.2_Silent_p.P344P|MGRN1_uc010uxo.1_Silent_p.P343P|MGRN1_uc010uxp.1_Silent_p.P343P|MGRN1_uc010uxq.1_Intron	NM_015246	NP_056061	O60291	MGRN1_HUMAN	mahogunin, ring finger 1 isoform 1	343					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1														0.130435	13.456114	22.601476	9	60	KEEP	---	---	---	---	capture		Silent	SNP	4727537	4727537	9949	16	C	G	G	G	288	23	MGRN1	3	3
MGRN1	23295	broad.mit.edu	37	16	4731568	4731568	+	Silent	SNP	A	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:4731568A>C	uc002cxb.2	+	c.1266A>C	c.(1264-1266)CCA>CCC	p.P422P	MGRN1_uc002cxa.2_Silent_p.P383P|MGRN1_uc002cwz.2_Silent_p.P383P|MGRN1_uc010btx.2_Silent_p.P362P|MGRN1_uc010btw.2_Silent_p.P362P|MGRN1_uc010uxo.1_Silent_p.P361P|MGRN1_uc010uxp.1_Silent_p.P361P|MGRN1_uc010uxq.1_Non-coding_Transcript	NM_015246	NP_056061	O60291	MGRN1_HUMAN	mahogunin, ring finger 1 isoform 1	383					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1														0.394366	91.687586	92.379907	28	43	KEEP	---	---	---	---	capture		Silent	SNP	4731568	4731568	9949	16	A	C	C	C	67	6	MGRN1	4	4
ABCC11	85320	broad.mit.edu	37	16	48231969	48231969	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:48231969G>T	uc002eff.1	-	c.2227C>A	c.(2227-2229)CAG>AAG	p.Q743K	ABCC11_uc002efg.1_Missense_Mutation_p.Q743K|ABCC11_uc002efh.1_Missense_Mutation_p.Q743K|ABCC11_uc010vgk.1_Intron	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	743	Cytoplasmic (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|central_nervous_system(1)	4		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)												0.362745	101.242629	102.935292	37	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48231969	48231969	52	16	G	T	T	T	598	46	ABCC11	2	2
NOD2	64127	broad.mit.edu	37	16	50744658	50744658	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:50744658A>T	uc002egm.1	+	c.836A>T	c.(835-837)GAG>GTG	p.E279V	NOD2_uc010cbk.1_Missense_Mutation_p.E252V|NOD2_uc002egl.1_Missense_Mutation_p.E57V|NOD2_uc010cbl.1_Missense_Mutation_p.E57V|NOD2_uc010cbm.1_Missense_Mutation_p.E57V|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	279					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			ovary(3)	3		all_cancers(37;0.0156)												0.352941	31.090243	31.738395	12	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50744658	50744658	10920	16	A	T	T	T	143	11	NOD2	3	3
MMP2	4313	broad.mit.edu	37	16	55523689	55523689	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:55523689C>A	uc002ehz.3	+	c.1133C>A	c.(1132-1134)ACA>AAA	p.T378K	MMP2_uc010vhd.1_Missense_Mutation_p.T302K|MMP2_uc010ccc.2_Missense_Mutation_p.T328K	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	378	Fibronectin type-II 3.|Collagen-binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			ovary(3)|large_intestine(3)|lung(1)|central_nervous_system(1)|kidney(1)	9		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)					275				0.296703	68.087439	71.452255	27	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55523689	55523689	10048	16	C	A	A	A	221	17	MMP2	2	2
CES7	221223	broad.mit.edu	37	16	55893498	55893498	+	Silent	SNP	G	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:55893498G>A	uc002eip.2	-	c.1017C>T	c.(1015-1017)ATC>ATT	p.I339I	CES7_uc002eio.2_Silent_p.I339I|CES7_uc002eiq.2_Silent_p.I100I|CES7_uc002eir.2_Silent_p.I233I	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	339					regulation of synaptic transmission	extracellular region	methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)										0.181818	17.120047	22.371486	10	45	KEEP	---	---	---	---	capture		Silent	SNP	55893498	55893498	3405	16	G	A	A	A	473	37	CES7	1	1
GOT2	2806	broad.mit.edu	37	16	58752583	58752583	+	Missense_Mutation	SNP	A	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:58752583A>C	uc002eof.1	-	c.445T>G	c.(445-447)TTT>GTT	p.F149V	GOT2_uc010vim.1_Missense_Mutation_p.F106V	NM_002080	NP_002071	P00505	AATM_HUMAN	aspartate aminotransferase 2 precursor	149					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)	1					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)									0.179245	51.864559	62.120427	19	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58752583	58752583	6854	16	A	C	C	C	13	1	GOT2	4	4
LDHD	197257	broad.mit.edu	37	16	75147476	75147476	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:75147476T>C	uc002fdm.2	-	c.1112A>G	c.(1111-1113)CAC>CGC	p.H371R	LDHD_uc002fdn.2_Missense_Mutation_p.H348R	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN	D-lactate dehydrogenase isoform 1 precursor	371					oxidation-reduction process		D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding				0														0.27027	25.632649	27.395769	10	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75147476	75147476	9027	16	T	C	C	C	767	59	LDHD	4	4
MYH2	4620	broad.mit.edu	37	17	10431163	10431163	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10431163A>G	uc010coi.2	-	c.3773T>C	c.(3772-3774)CTA>CCA	p.L1258P	MYH2_uc002gmp.3_Missense_Mutation_p.L1258P|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1258	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|lung(1)|kidney(1)	11														0.265152	108.978919	115.549238	35	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10431163	10431163	10430	17	A	G	G	G	195	15	MYH2	4	4
DNAH9	1770	broad.mit.edu	37	17	11572727	11572727	+	Missense_Mutation	SNP	G	T	T	rs61745415	by1000genomes	TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:11572727G>T	uc002gne.2	+	c.2969G>T	c.(2968-2970)CGC>CTC	p.R990L	DNAH9_uc010coo.2_Missense_Mutation_p.R284L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	990	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	10		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)										0.305085	49.528633	51.527793	18	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11572727	11572727	4791	17	G	T	T	T	494	38	DNAH9	1	1
DNAH9	1770	broad.mit.edu	37	17	11865411	11865411	+	Silent	SNP	T	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:11865411T>A	uc002gne.2	+	c.13071T>A	c.(13069-13071)ACT>ACA	p.T4357T	DNAH9_uc010coo.2_Silent_p.T3575T|DNAH9_uc002gnf.2_Silent_p.T669T	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	4357					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	10		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)										0.296296	38.878297	40.883195	16	38	KEEP	---	---	---	---	capture		Silent	SNP	11865411	11865411	4791	17	T	A	A	A	704	55	DNAH9	3	3
TRIM16	10626	broad.mit.edu	37	17	15539485	15539485	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:15539485C>A	uc002gox.2	-	c.714G>T	c.(712-714)GAG>GAT	p.E238D	TRIM16_uc002gor.1_Missense_Mutation_p.E238D|TRIM16_uc002gow.2_Missense_Mutation_p.E22D|TRIM16_uc002goy.2_Missense_Mutation_p.E108D	NM_006470	NP_006461	O95361	TRI16_HUMAN	tripartite motif-containing 16	238					histone H3 acetylation|histone H4 acetylation|positive regulation of gene-specific transcription|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid	cytoplasm|plasma membrane|PML body	DNA binding|interleukin-1 binding|NACHT domain binding|transcription activator activity|zinc ion binding			ovary(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)										0.10084	5.001984	23.944636	12	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15539485	15539485	17035	17	C	A	A	A	311	24	TRIM16	2	2
NOS2	4843	broad.mit.edu	37	17	26093575	26093575	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:26093575C>A	uc002gzu.2	-	c.2207G>T	c.(2206-2208)AGG>ATG	p.R736M		NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	736	FAD-binding FR-type.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|oxidation-reduction process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			ovary(1)|breast(1)	2					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)					578				0.251799	155.774247	171.370627	70	208	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26093575	26093575	10946	17	C	A	A	A	312	24	NOS2	2	2
RAD51L3	5892	broad.mit.edu	37	17	33434066	33434066	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:33434066G>T	uc010wcd.1	-	c.481C>A	c.(481-483)CTG>ATG	p.L161M	RFFL_uc002hiq.2_Intron|RAD51L3_uc010ctj.2_5'Flank|RAD51L3_uc002hir.2_Missense_Mutation_p.L141M|RAD51L3_uc002his.2_Intron|RAD51L3_uc010ctk.2_Missense_Mutation_p.L22M|RAD51L3_uc010wce.1_Missense_Mutation_p.L22M|RAD51L3_uc002hit.2_Missense_Mutation_p.L22M|RAD51L3_uc002hiu.2_Intron|RAD51L3_uc010wcf.1_Non-coding_Transcript|RAD51L3_uc002hiw.1_Non-coding_Transcript|RAD51L3_uc002hiv.1_Intron|RAD51L3_uc010ctl.1_Intron|RAD51L3_uc010ctm.1_Intron	NM_001142571	NP_001136043	O75771	RA51D_HUMAN	RAD51-like 3 isoform 6	141					DNA repair|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			lung(1)|breast(1)|central_nervous_system(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)										0.166667	35.262159	49.791076	23	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33434066	33434066	13450	17	G	T	T	T	438	34	RAD51L3	2	2
PLCD3	113026	broad.mit.edu	37	17	43194110	43194110	+	Silent	SNP	G	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:43194110G>A	uc002iib.2	-	c.1302C>T	c.(1300-1302)TGC>TGT	p.C434C		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	phospholipase C delta 3	434	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|lung(1)	3					Phosphatidylserine(DB00144)									0.192308	16.895511	21.536809	10	42	KEEP	---	---	---	---	capture		Silent	SNP	43194110	43194110	12458	17	G	A	A	A	490	38	PLCD3	1	1
SP6	80320	broad.mit.edu	37	17	45924888	45924888	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:45924888C>T	uc002img.1	-	c.908G>A	c.(907-909)CGC>CAC	p.R303H	SP6_uc002imh.1_Missense_Mutation_p.R303H	NM_199262	NP_954871	Q3SY56	SP6_HUMAN	Sp6 transcription factor	303	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.301587	42.61415	44.822112	19	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45924888	45924888	15468	17	C	T	T	T	351	27	SP6	1	1
HOXB1	3211	broad.mit.edu	37	17	46608074	46608074	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:46608074C>A	uc002ink.1	-	c.193G>T	c.(193-195)GCC>TCC	p.A65S		NM_002144	NP_002135	P14653	HXB1_HUMAN	homeobox B1	65						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1														0.131868	17.841574	29.822004	12	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46608074	46608074	7591	17	C	A	A	A	351	27	HOXB1	1	1
SLC39A11	201266	broad.mit.edu	37	17	70845835	70845835	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:70845835C>A	uc002jjb.2	-	c.560G>T	c.(559-561)GGC>GTC	p.G187V	SLC39A11_uc002jja.2_Missense_Mutation_p.G180V|SLC39A11_uc002jjc.1_Missense_Mutation_p.G180V	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11 isoform 1	187					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)	1						NSCLC(95;736 1527 12296 39625 41839)								0.284553	81.747788	86.892928	35	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70845835	70845835	15111	17	C	A	A	A	338	26	SLC39A11	2	2
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	G	G	rs11540652		TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7577538C>G	uc002gim.2	-	c.743G>C	c.(742-744)CGG>CCG	p.R248P	TP53_uc002gig.1_Missense_Mutation_p.R248P|TP53_uc002gih.2_Missense_Mutation_p.R248P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116P|TP53_uc010cng.1_Missense_Mutation_p.R116P|TP53_uc002gii.1_Missense_Mutation_p.R116P|TP53_uc010cnh.1_Missense_Mutation_p.R248P|TP53_uc010cni.1_Missense_Mutation_p.R248P|TP53_uc002gij.2_Missense_Mutation_p.R248P|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155P|TP53_uc002gio.2_Missense_Mutation_p.R116P	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	248	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(503)|p.R248L(63)|p.R248P(11)|p.0?(6)|p.N247_R248delNR(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		Pancreas(47;798 1329 9957 10801)	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	111	p.R248L(NCIH211-Tumor)|p.R248L(NB4-Tumor)|p.R248L(PC14-Tumor)|p.R248L(KYO1-Tumor)|p.R248L(PCM6-Tumor)|p.R248L(NUDHL1-Tumor)|p.R248L(BL41-Tumor)|p.R248Q(FADU-Tumor)|p.R248L(CI1-Tumor)|p.R248L(SW1463-Tumor)|p.R248L(COLO699-Tumor)|p.R248L(HS683-Tumor)|p.R248*(DB-Tumor)|p.R248L(HCC1143-Tumor)|p.R248L(NCIN87-Tumor)|p.R248A(SF126-Tumor)|p.R248L(PANC02.03-Tumor)|p.R248L(HEC1B-Tumor)|p.R248L(PECAPJ15-Tumor)|p.R248L(LNCAPCLONEFGC-Tumor)|p.R248L(NIHOVCAR3-Tumor)|p.R248L(NUDUL1-Tumor)|p.R248L(ONCODG1-Tumor)|p.R248L(RT112-Tumor)|p.R248L(SF295-Tumor)|p.R248L(P12ICHIKAWA-Tumor)|p.R248L(DND41-Tumor)|p.R248Q(SBC5-Tumor)|p.R248L(KOPN8-Tumor)|p.R248L(KASUMI1-Tumor)|p.R248L(EM2-Tumor)|p.R248L(SKUT1-Tumor)|p.R248L(NCCSTCK140-Tumor)|p.R248L(TE6-Tumor)|p.R248L(MOLM6-Tumor)|p.R248L(SEM-Tumor)|p.R248L(NAMALWA-Tumor)|p.R248L(CA46-Tumor)|p.R248L(639V-Tumor)|p.R248L(SKM1-Tumor)|p.R248Q(NCIH1573-Tumor)|p.R248Q(NCIH1618-Tumor)|p.R248L(HCC70-Tumor)|p.R248L(WSUDLCL2-Tumor)|p.R248L(HEC1A-Tumor)|p.R248L(KYSE150-Tumor)|p.R248L(HSC4-Tumor)|p.R248L(CL40-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.5	141.920049	141.920049	43	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7577538	7577538	16923	17	C	G	G	G	299	23	TP53	3	3
DNAH2	146754	broad.mit.edu	37	17	7705029	7705029	+	Splice_Site_SNP	SNP	G	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7705029G>A	uc002giu.1	+	c.8832_splice	c.e56+1	p.N2944_splice	DNAH2_uc010cnm.1_5'Flank	NM_020877	NP_065928			dynein heavy chain domain 3						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)												0.126316	12.446213	25.387349	12	83	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	7705029	7705029	4785	17	G	A	A	A	624	48	DNAH2	5	2
TBC1D16	125058	broad.mit.edu	37	17	77921563	77921563	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:77921563C>A	uc002jxj.2	-	c.1609G>T	c.(1609-1611)GTG>TTG	p.V537L	TBC1D16_uc002jxh.2_Missense_Mutation_p.V175L|TBC1D16_uc002jxi.2_Missense_Mutation_p.V162L|TBC1D16_uc002jxk.1_Missense_Mutation_p.V175L	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	537	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			Ovarian(14;397 562 4850 31922 49378)								0.325581	70.485087	72.799157	28	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77921563	77921563	16127	17	C	A	A	A	234	18	TBC1D16	2	2
NPTX1	4884	broad.mit.edu	37	17	78444626	78444626	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:78444626C>A	uc002jyp.1	-	c.1286G>T	c.(1285-1287)CGC>CTC	p.R429L		NM_002522	NP_002513	Q15818	NPTX1_HUMAN	neuronal pentraxin I precursor	429	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding				0	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)											0.431034	67.444704	67.688546	25	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78444626	78444626	11007	17	C	A	A	A	351	27	NPTX1	1	1
STX8	9482	broad.mit.edu	37	17	9281903	9281903	+	Silent	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:9281903C>A	uc002glx.2	-	c.609G>T	c.(607-609)CGG>CGT	p.R203R		NM_004853	NP_004844	Q9UNK0	STX8_HUMAN	syntaxin 8	203	t-SNARE coiled-coil homology.|Cytoplasmic (Potential).				transport	endoplasmic reticulum|integral to plasma membrane					0														0.260684	137.034966	149.196521	61	173	KEEP	---	---	---	---	capture		Silent	SNP	9281903	9281903	15871	17	C	A	A	A	275	22	STX8	2	2
MC2R	4158	broad.mit.edu	37	18	13885062	13885062	+	Silent	SNP	C	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:13885062C>T	uc002ksp.1	-	c.456G>A	c.(454-456)ACG>ACA	p.T152T		NM_000529	NP_000520	Q01718	ACTHR_HUMAN	melanocortin 2 receptor	152	Helical; Name=4; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	adrenocorticotropin receptor activity|protein binding			ovary(4)	4					Corticotropin(DB01285)|Cosyntropin(DB01284)	Colon(141;1584 1782 35999 48227 48692)								0.178082	25.73677	32.855273	13	60	KEEP	---	---	---	---	capture		Silent	SNP	13885062	13885062	9753	18	C	T	T	T	288	23	MC2R	1	1
CTAGE1	64693	broad.mit.edu	37	18	19996925	19996925	+	Nonsense_Mutation	SNP	T	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:19996925T>A	uc002ktv.1	-	c.850A>T	c.(850-852)AAG>TAG	p.K284*		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	284						integral to membrane				ovary(1)	1	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)													0.180556	21.632138	28.542438	13	59	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	19996925	19996925	4151	18	T	A	A	A	806	62	CTAGE1	5	3
DSC1	1823	broad.mit.edu	37	18	28736036	28736036	+	Silent	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:28736036C>A	uc002kwn.2	-	c.441G>T	c.(439-441)TCG>TCT	p.S147S	DSC1_uc002kwm.2_Silent_p.S147S	NM_024421	NP_077739	Q08554	DSC1_HUMAN	desmocollin 1 isoform Dsc1a preproprotein	147	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			ovary(3)	3			OV - Ovarian serous cystadenocarcinoma(10;0.00778)											0.266667	39.66286	42.622174	16	44	KEEP	---	---	---	---	capture		Silent	SNP	28736036	28736036	4949	18	C	A	A	A	236	19	DSC1	1	1
C18orf34	374864	broad.mit.edu	37	18	30926363	30926363	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:30926363G>A	uc010xbr.1	-	c.470C>T	c.(469-471)CCA>CTA	p.P157L	C18orf34_uc002kxn.2_Missense_Mutation_p.P157L|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.P157L|C18orf34_uc002kxp.2_Missense_Mutation_p.P157L	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	157	Potential.									ovary(1)	1														0.192982	25.490448	30.506994	11	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30926363	30926363	1963	18	G	A	A	A	611	47	C18orf34	2	2
SYT4	6860	broad.mit.edu	37	18	40854041	40854041	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:40854041A>T	uc002law.2	-	c.353T>A	c.(352-354)CTG>CAG	p.L118Q	SYT4_uc010dng.2_Intron|SYT4_uc010xcm.1_Missense_Mutation_p.L100Q|SYT4_uc010dnh.2_Intron	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	118	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity				0						NSCLC(85;81 1419 2855 22820 35912)								0.171429	36.195278	46.903724	18	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40854041	40854041	15997	18	A	T	T	T	91	7	SYT4	3	3
MALT1	10892	broad.mit.edu	37	18	56363658	56363658	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:56363658T>C	uc002lhm.1	+	c.437T>C	c.(436-438)CTG>CCG	p.L146P	MALT1_uc002lhn.1_Missense_Mutation_p.L146P	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma	146	Ig-like C2-type 1.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell activation|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			ovary(2)|central_nervous_system(1)	3										549				0.147059	7.163048	11.225543	5	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56363658	56363658	9585	18	T	C	C	C	715	55	MALT1	4	4
CD226	10666	broad.mit.edu	37	18	67534622	67534622	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:67534622G>C	uc010dqo.2	-	c.856C>G	c.(856-858)CTA>GTA	p.L286V	CD226_uc002lkm.3_Missense_Mutation_p.L286V	NM_006566	NP_006557	Q15762	CD226_HUMAN	CD226 molecule precursor	286	Cytoplasmic (Potential).				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity				0		Esophageal squamous(42;0.129)				NSCLC(184;838 2130 8673 21498 50749)								0.138298	56.313035	80.101272	26	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67534622	67534622	3113	18	G	C	C	C	425	33	CD226	3	3
ZNF516	9658	broad.mit.edu	37	18	74091436	74091436	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:74091436C>A	uc010dqx.1	-	c.2634G>T	c.(2632-2634)TGG>TGT	p.W878C	ZNF516_uc002lme.2_Non-coding_Transcript|ZNF516_uc002lmd.2_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	878					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)										0.23	45.474077	52.16766	23	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74091436	74091436	18554	18	C	A	A	A	286	22	ZNF516	2	2
KIAA0802	23255	broad.mit.edu	37	18	8783766	8783766	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:8783766A>G	uc002knr.2	+	c.656A>G	c.(655-657)AAC>AGC	p.N219S	KIAA0802_uc002knq.2_Missense_Mutation_p.N219S|KIAA0802_uc010dkw.1_Missense_Mutation_p.N57S	NM_015210	NP_056025	Q9Y4B5	K0802_HUMAN	hypothetical protein LOC23255	570	Potential.									ovary(6)|central_nervous_system(1)	7										468				0.333333	23.919264	24.435245	7	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8783766	8783766	8501	18	A	G	G	G	26	2	KIAA0802	4	4
KEAP1	9817	broad.mit.edu	37	19	10597396	10597396	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10597396C>A	uc002moq.1	-	c.1807G>T	c.(1807-1809)GGG>TGG	p.G603W	KEAP1_uc002mop.1_Missense_Mutation_p.G262W|KEAP1_uc002mor.1_Missense_Mutation_p.G603W	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	603	Kelch 6.				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)											0.353333	135.818574	138.668606	53	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10597396	10597396	8447	19	C	A	A	A	273	21	KEAP1	2	2
CYP4F8	11283	broad.mit.edu	37	19	15734084	15734084	+	Nonsense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15734084G>T	uc002nbi.2	+	c.817G>T	c.(817-819)GAG>TAG	p.E273*	CYP4F8_uc010xoj.1_Nonsense_Mutation_p.E85*	NM_007253	NP_009184	P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F,	273					oxidation-reduction process|prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			large_intestine(1)	1														0.442308	59.81162	59.963154	23	29	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	15734084	15734084	4356	19	G	T	T	T	533	41	CYP4F8	5	2
MLL4	9757	broad.mit.edu	37	19	36218608	36218608	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36218608G>A	uc010eei.2	+	c.4312G>A	c.(4312-4314)GAT>AAT	p.D1438N		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1438				D -> N (in Ref. 6; AAD17932).	chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)											0.447761	90.538011	90.697819	30	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36218608	36218608	10013	19	G	A	A	A	429	33	MLL4	2	2
KLK2	3817	broad.mit.edu	37	19	51379851	51379851	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51379851C>A	uc002ptv.2	+	c.330C>A	c.(328-330)AGC>AGA	p.S110R	KLK2_uc010eog.2_Missense_Mutation_p.S8R|KLK2_uc010yck.1_Missense_Mutation_p.S110R|KLK2_uc002ptu.2_Missense_Mutation_p.S110R|KLK2_uc002ptt.2_Non-coding_Transcript|KLK2_uc010ycl.1_Missense_Mutation_p.S93R|KLK2_uc010ycm.1_Missense_Mutation_p.S8R|KLK2_uc010eoh.2_Missense_Mutation_p.S8R	NM_005551	NP_005542	P20151	KLK2_HUMAN	kallikrein 2, prostatic isoform 1	110	Peptidase S1.				proteolysis		serine-type endopeptidase activity			ovary(1)|skin(1)	2		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)										0.410256	44.390348	44.665302	16	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51379851	51379851	8718	19	C	A	A	A	337	26	KLK2	2	2
ZNF808	388558	broad.mit.edu	37	19	53057530	53057530	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53057530C>T	uc010epq.1	+	c.1361C>T	c.(1360-1362)CCA>CTA	p.P454L	ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.1_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	454					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)										0.491228	86.895734	86.899614	28	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53057530	53057530	18771	19	C	T	T	T	273	21	ZNF808	2	2
ZNF761	388561	broad.mit.edu	37	19	53957975	53957975	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53957975G>T	uc010eqp.2	+	c.214G>T	c.(214-216)GGG>TGG	p.G72W	ZNF761_uc010ydy.1_Missense_Mutation_p.G18W|ZNF761_uc002qbt.1_Missense_Mutation_p.G18W	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	72	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)										0.407895	83.403797	83.968821	31	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53957975	53957975	18734	19	G	T	T	T	455	35	ZNF761	2	2
CACNG8	59283	broad.mit.edu	37	19	54466459	54466459	+	Silent	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54466459G>T	uc002qcs.1	+	c.60G>T	c.(58-60)GTG>GTT	p.V20V		NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN	voltage-dependent calcium channel gamma-8	21	Helical; (Potential).				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|postsynaptic density|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)										0.428571	16.046856	16.109256	6	8	KEEP	---	---	---	---	capture		Silent	SNP	54466459	54466459	2679	19	G	T	T	T	587	46	CACNG8	2	2
LILRB1	10859	broad.mit.edu	37	19	55143080	55143080	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55143080C>A	uc002qgm.2	+	c.200C>A	c.(199-201)GCA>GAA	p.A67E	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgj.2_Missense_Mutation_p.A67E|LILRB1_uc002qgl.2_Missense_Mutation_p.A67E|LILRB1_uc002qgk.2_Missense_Mutation_p.A67E|LILRB1_uc010erq.2_Missense_Mutation_p.A67E|LILRB1_uc010err.2_Non-coding_Transcript	NM_001081637	NP_001075106	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	67	Ig-like C2-type 1.|Extracellular (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(193;0.0188)										0.454545	147.055392	147.250196	50	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55143080	55143080	9116	19	C	A	A	A	325	25	LILRB1	2	2
KIR2DS4	3809	broad.mit.edu	37	19	55349047	55349047	+	Silent	SNP	T	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55349047T>G	uc002qhm.1	+	c.87T>G	c.(85-87)CCT>CCG	p.P29P	KIR2DS4_uc010yfj.1_Silent_p.P22P|KIR2DS4_uc010yfk.1_Non-coding_Transcript|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Silent_p.P29P|KIR2DS4_uc002qhn.1_5'UTR	NM_012314	NP_036446	P43632	KI2S4_HUMAN	killer cell immunoglobulin-like receptor, two	29	Extracellular (Potential).					integral to plasma membrane	receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)										0.338384	191.753841	196.331999	67	131	KEEP	---	---	---	---	capture		Silent	SNP	55349047	55349047	8631	19	T	G	G	G	717	56	KIR2DS4	4	4
KIR2DS4	3809	broad.mit.edu	37	19	55351062	55351062	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55351062C>A	uc002qhm.1	+	c.572C>A	c.(571-573)ACC>AAC	p.T191N	KIR2DS4_uc010yfj.1_Missense_Mutation_p.P177T|KIR2DS4_uc010yfk.1_Non-coding_Transcript|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Missense_Mutation_p.P184T|KIR2DS4_uc002qhn.1_Intron	NM_012314	NP_036446	P43632	KI2S4_HUMAN	killer cell immunoglobulin-like receptor, two	191	Extracellular (Potential).|Ig-like C2-type 2.					integral to plasma membrane	receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)										0.472973	220.036474	220.130795	70	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55351062	55351062	8631	19	C	A	A	A	234	18	KIR2DS4	2	2
NLRP2	55655	broad.mit.edu	37	19	55493644	55493644	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55493644T>C	uc002qij.2	+	c.578T>C	c.(577-579)ATC>ACC	p.I193T	NLRP2_uc010yfp.1_Missense_Mutation_p.I170T|NLRP2_uc010esn.2_Missense_Mutation_p.I169T|NLRP2_uc010eso.2_Missense_Mutation_p.I190T|NLRP2_uc010esp.2_Missense_Mutation_p.I171T	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	193					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)										0.429245	302.816067	303.735142	91	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55493644	55493644	10880	19	T	C	C	C	650	50	NLRP2	4	4
ZNF524	147807	broad.mit.edu	37	19	56114114	56114114	+	Silent	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56114114G>T	uc002qlk.1	+	c.636G>T	c.(634-636)ACG>ACT	p.T212T	FIZ1_uc002qlj.3_5'Flank	NM_153219	NP_694951	Q96C55	ZN524_HUMAN	zinc finger protein 524	212	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)										0.333333	20.255432	20.864548	8	16	KEEP	---	---	---	---	capture		Silent	SNP	56114114	56114114	18560	19	G	T	T	T	483	38	ZNF524	1	1
NLRP4	147945	broad.mit.edu	37	19	56373482	56373482	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56373482T>A	uc002qmd.3	+	c.2143T>A	c.(2143-2145)TGT>AGT	p.C715S	NLRP4_uc002qmf.2_Missense_Mutation_p.C640S|NLRP4_uc010etf.2_Missense_Mutation_p.C546S	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	715	LRR 2.						ATP binding			ovary(5)|lung(3)|kidney(1)|pancreas(1)	10		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)										0.52381	176.144836	176.198314	55	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56373482	56373482	10882	19	T	A	A	A	715	55	NLRP4	3	3
USP29	57663	broad.mit.edu	37	19	57640890	57640890	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57640890C>A	uc002qny.2	+	c.847C>A	c.(847-849)CTG>ATG	p.L283M		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	283					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			ovary(2)|breast(2)|pancreas(1)	5		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)										0.441176	88.637484	88.843082	30	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57640890	57640890	17623	19	C	A	A	A	259	20	USP29	2	2
ZSCAN1	284312	broad.mit.edu	37	19	58549360	58549360	+	Silent	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58549360G>T	uc002qrc.1	+	c.156G>T	c.(154-156)CCG>CCT	p.P52P	ZSCAN1_uc002qra.1_Silent_p.P52P|ZSCAN1_uc002qrb.1_Silent_p.P52P	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	52	SCAN box.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)										0.538462	19.003948	19.01926	7	6	KEEP	---	---	---	---	capture		Silent	SNP	58549360	58549360	18830	19	G	T	T	T	483	38	ZSCAN1	1	1
ZNF121	7675	broad.mit.edu	37	19	9677224	9677224	+	Nonsense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9677224C>A	uc010xkp.1	-	c.565G>T	c.(565-567)GAA>TAA	p.E189*	ZNF121_uc010dwt.2_Nonsense_Mutation_p.E189*|ZNF121_uc010xkq.1_Nonsense_Mutation_p.E189*	NM_001008727	NP_001008727	P58317	ZN121_HUMAN	zinc finger protein 121	189	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.160714	14.234573	20.375869	9	47	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	9677224	9677224	18310	19	C	A	A	A	377	29	ZNF121	5	2
PALMD	54873	broad.mit.edu	37	1	100154432	100154432	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:100154432G>A	uc001dsf.2	+	c.616G>A	c.(616-618)GGA>AGA	p.G206R	PALMD_uc001dsg.2_Missense_Mutation_p.G206R	NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	palmdelphin	206					regulation of cell shape	cytoplasm|membrane				ovary(1)|pancreas(1)	2		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)										0.221053	52.721249	59.526845	21	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100154432	100154432	11828	1	G	A	A	A	455	35	PALMD	2	2
CCDC76	54482	broad.mit.edu	37	1	100598771	100598771	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:100598771A>T	uc001dsv.2	+	c.47A>T	c.(46-48)GAG>GTG	p.E16V	SASS6_uc001dsu.2_5'Flank|SASS6_uc009wdz.2_5'Flank|CCDC76_uc010ouf.1_Non-coding_Transcript|CCDC76_uc009wea.2_Missense_Mutation_p.E16V	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN	coiled-coil domain containing 76	16					tRNA processing		metal ion binding|methyltransferase activity			ovary(1)	1		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)										0.208955	28.119727	33.370451	14	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100598771	100598771	2973	1	A	T	T	T	143	11	CCDC76	3	3
OLFM3	118427	broad.mit.edu	37	1	102269934	102269934	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:102269934G>T	uc001duf.2	-	c.1297C>A	c.(1297-1299)CCC>ACC	p.P433T	OLFM3_uc001dug.2_Missense_Mutation_p.P413T|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_Missense_Mutation_p.P338T|OLFM3_uc001due.2_Non-coding_Transcript	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	olfactomedin 3	433	Olfactomedin-like.					extracellular region				ovary(2)|skin(1)	3		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)										0.152174	30.842197	52.224521	28	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102269934	102269934	11259	1	G	T	T	T	533	41	OLFM3	2	2
COL11A1	1301	broad.mit.edu	37	1	103544276	103544276	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:103544276G>T	uc001dum.2	-	c.426C>A	c.(424-426)CAC>CAA	p.H142Q	COL11A1_uc001dul.2_Missense_Mutation_p.H142Q|COL11A1_uc001dun.2_Missense_Mutation_p.H142Q|COL11A1_uc009weh.2_Missense_Mutation_p.H142Q	NM_080629	NP_542196	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform B	142	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|central_nervous_system(1)|pancreas(1)	11		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)										0.217391	23.823045	27.212122	10	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103544276	103544276	3805	1	G	T	T	T	620	48	COL11A1	2	2
KCNA10	3744	broad.mit.edu	37	1	111060137	111060137	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:111060137C>T	uc001dzt.1	-	c.1273G>A	c.(1273-1275)GGG>AGG	p.G425R		NM_005549	NP_005540	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related	425	Selectivity filter (By similarity).					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			ovary(3)|large_intestine(1)	4		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)										0.23913	26.703447	29.56102	11	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111060137	111060137	8307	1	C	T	T	T	273	21	KCNA10	2	2
PLOD1	5351	broad.mit.edu	37	1	12009871	12009871	+	Silent	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:12009871G>T	uc010obb.1	+	c.351G>T	c.(349-351)ACG>ACT	p.T117T	PLOD1_uc001atm.2_Silent_p.T70T	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	lysyl hydroxylase 1 precursor	70					epidermis development|hydroxylysine biosynthetic process|oxidation-reduction process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			ovary(2)|breast(1)	3	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)									0.23913	85.721757	94.285295	33	105	KEEP	---	---	---	---	capture		Silent	SNP	12009871	12009871	12527	1	G	T	T	T	509	40	PLOD1	1	1
HIST2H2AC	8338	broad.mit.edu	37	1	149858837	149858837	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:149858837C>G	uc001etd.2	+	c.313C>G	c.(313-315)CAG>GAG	p.Q105E	HIST2H2BE_uc001etc.2_5'Flank	NM_003517	NP_003508	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	105					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)	1	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)											0.16129	52.780044	69.697892	25	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149858837	149858837	7465	1	C	G	G	G	273	21	HIST2H2AC	3	3
SETDB1	9869	broad.mit.edu	37	1	150935079	150935079	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:150935079C>G	uc001evu.2	+	c.3175C>G	c.(3175-3177)CGA>GGA	p.R1059G	SETDB1_uc001evv.2_Missense_Mutation_p.R1059G|SETDB1_uc009wmg.1_Missense_Mutation_p.R1059G	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	1059	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)							452				0.42	219.802959	220.639883	63	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150935079	150935079	14627	1	C	G	G	G	399	31	SETDB1	3	3
SCNM1	79005	broad.mit.edu	37	1	151139642	151139642	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:151139642A>G	uc001ewz.2	+	c.257A>G	c.(256-258)AAG>AGG	p.K86R	LYSMD1_uc001ewy.2_5'Flank|LYSMD1_uc010pcr.1_5'Flank|SCNM1_uc010pcs.1_Missense_Mutation_p.K86R|SCNM1_uc009wmn.2_Non-coding_Transcript	NM_024041	NP_076946	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1	86					mRNA processing|RNA splicing	nucleus	metal ion binding|protein binding			ovary(1)|pancreas(1)	2	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)											0.217143	109.764467	122.667113	38	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151139642	151139642	14408	1	A	G	G	G	39	3	SCNM1	4	4
ATP8B2	57198	broad.mit.edu	37	1	154319197	154319197	+	Silent	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:154319197G>T	uc001fex.2	+	c.3225G>T	c.(3223-3225)GGG>GGT	p.G1075G		NM_020452	NP_065185	P98198	AT8B2_HUMAN	ATPase, class I, type 8B, member 2 isoform a	1061	Extracellular (Potential).				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(1)	1	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)											0.176211	70.185764	92.454177	40	187	KEEP	---	---	---	---	capture		Silent	SNP	154319197	154319197	1214	1	G	T	T	T	535	42	ATP8B2	2	2
PBXIP1	57326	broad.mit.edu	37	1	154918707	154918707	+	Silent	SNP	C	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:154918707C>T	uc001ffr.2	-	c.1443G>A	c.(1441-1443)GGG>GGA	p.G481G	PBXIP1_uc001ffs.2_Silent_p.G452G|PBXIP1_uc010pep.1_Silent_p.G326G	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein	481					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			large_intestine(1)	1	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)											0.155668	136.267679	203.318197	92	499	KEEP	---	---	---	---	capture		Silent	SNP	154918707	154918707	11916	1	C	T	T	T	327	26	PBXIP1	2	2
RIT1	6016	broad.mit.edu	37	1	155874530	155874530	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155874530C>A	uc001fmh.1	-	c.229G>T	c.(229-231)GCT>TCT	p.A77S	RIT1_uc010pgr.1_Missense_Mutation_p.A41S	NM_006912	NP_008843	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	77	GTP (By similarity).				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity				0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)											0.494118	121.878317	121.881651	42	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155874530	155874530	13863	1	C	A	A	A	364	28	RIT1	2	2
ARHGEF11	9826	broad.mit.edu	37	1	156910211	156910213	+	Missense	Complex_substitution	CNA	ANC	ANC			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156910211C>A	uc001fqn.2	-	c.3521G>T	c.(3520-3522)GGG>GTG	p.G1174V	ARHGEF11_uc010phu.1_Missense_Mutation_p.G550V|ARHGEF11_uc001fqo.2_Missense_Mutation_p.G1134V	NM_198236	NP_937879	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1134					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|pancreas(1)|lung(1)|kidney(1)|pleura(1)	7	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)													0.206897	21.962152	26.586816	12	46	KEEP	---	---	---	---	capture		Missense	Complex_substitution	156910211	156910213	910	1	CNA	ANC	ANC	A	286	22	ARHGEF11	5	5
OR10T2	128360	broad.mit.edu	37	1	158368639	158368639	+	Silent	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158368639C>A	uc010pih.1	-	c.618G>T	c.(616-618)CTG>CTT	p.L206L		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T,	206	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	all_hematologic(112;0.0378)													0.384615	41.913472	42.369477	15	24	KEEP	---	---	---	---	capture		Silent	SNP	158368639	158368639	11325	1	C	A	A	A	262	21	OR10T2	2	2
DARC	2532	broad.mit.edu	37	1	159175317	159175317	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159175317T>A	uc001ftp.3	+	c.94T>A	c.(94-96)TAT>AAT	p.Y32N	DARC_uc001fto.2_Missense_Mutation_p.Y30N	NM_001122951	NP_001116423	Q16570	DUFFY_HUMAN	Duffy blood group antigen isoform a	30	Extracellular (Potential).				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			ovary(1)|lung(1)	2	all_hematologic(112;0.0429)													0.15	25.874483	39.971916	18	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159175317	159175317	4407	1	T	A	A	A	689	53	DARC	3	3
OR10J1	26476	broad.mit.edu	37	1	159410315	159410315	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159410315C>T	uc010piv.1	+	c.767C>T	c.(766-768)ACT>ATT	p.T256I		NM_012351	NP_036483	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J,	256	Helical; Name=6; (Potential).				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0429)													0.41	118.255346	118.963033	41	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159410315	159410315	11316	1	C	T	T	T	260	20	OR10J1	2	2
TNR	7143	broad.mit.edu	37	1	175335155	175335155	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175335155C>A	uc001gkp.1	-	c.2173G>T	c.(2173-2175)GGG>TGG	p.G725W	TNR_uc009wwu.1_Missense_Mutation_p.G725W	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	725	Fibronectin type-III 5.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)													0.081633	-2.220156	23.990277	12	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175335155	175335155	16879	1	C	A	A	A	273	21	TNR	2	2
RFWD2	64326	broad.mit.edu	37	1	175957481	175957481	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175957481G>A	uc001gku.1	-	c.1915C>T	c.(1915-1917)CAT>TAT	p.H639Y	RFWD2_uc001gkv.1_Missense_Mutation_p.H615Y|RFWD2_uc001gkw.1_Missense_Mutation_p.H399Y|RFWD2_uc009wwv.2_Missense_Mutation_p.H438Y|RFWD2_uc001gkt.1_Missense_Mutation_p.H478Y	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2 isoform a	639	WD 6.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0						Ovarian(134;1413 1765 5706 35534 51541)								0.545455	102.995397	103.112995	36	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175957481	175957481	13732	1	G	A	A	A	585	45	RFWD2	2	2
PAPPA2	60676	broad.mit.edu	37	1	176709310	176709310	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176709310G>T	uc001gkz.2	+	c.4129G>T	c.(4129-4131)GGG>TGG	p.G1377W	PAPPA2_uc009www.2_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1377					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|lung(1)|breast(1)	14														0.116667	5.578654	14.259371	7	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176709310	176709310	11850	1	G	T	T	T	559	43	PAPPA2	2	2
ASTN1	460	broad.mit.edu	37	1	176857281	176857281	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176857281C>A	uc001glc.2	-	c.3000G>T	c.(2998-3000)GAG>GAT	p.E1000D	ASTN1_uc001glb.1_Missense_Mutation_p.E1000D|ASTN1_uc001gld.1_Missense_Mutation_p.E1000D	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	1008					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	11										849				0.394737	77.234053	77.97025	30	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176857281	176857281	1083	1	C	A	A	A	311	24	ASTN1	2	2
CACNA1E	777	broad.mit.edu	37	1	181701768	181701768	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:181701768G>C	uc001gow.2	+	c.2546G>C	c.(2545-2547)CGC>CCC	p.R849P	CACNA1E_uc009wxs.2_Missense_Mutation_p.R737P|CACNA1E_uc001gox.1_Missense_Mutation_p.R75P|CACNA1E_uc009wxt.2_Missense_Mutation_p.R75P	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	849	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6														0.6	10.726203	10.769999	3	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	181701768	181701768	2658	1	G	C	C	C	494	38	CACNA1E	3	3
CACNA1E	777	broad.mit.edu	37	1	181706767	181706768	+	Missense_Mutation	DNP	CT	AA	AA			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:181706767_181706768CT>AA	uc001gow.2	+	c.3529_3530CT>AA	c.(3529-3531)CTG>AAG	p.L1177K	CACNA1E_uc009wxs.2_Missense_Mutation_p.L1065K|CACNA1E_uc001gox.1_Missense_Mutation_p.L403K|CACNA1E_uc009wxt.2_Missense_Mutation_p.L403K	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1177	Extracellular (Potential).|III.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6														0.420765	208.52573	209.531613	77	106	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	181706767	181706768	2658	1	CT	AA	AA	AA	311	24	CACNA1E	2	2
CACNA1E	777	broad.mit.edu	37	1	181765861	181765861	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:181765861G>A	uc001gow.2	+	c.6137G>A	c.(6136-6138)CGA>CAA	p.R2046Q	CACNA1E_uc009wxs.2_Missense_Mutation_p.R1934Q|CACNA1E_uc009wxt.2_Missense_Mutation_p.R1315Q	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	2089	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6														0.609756	72.952411	73.37922	25	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	181765861	181765861	2658	1	G	A	A	A	481	37	CACNA1E	1	1
RGL1	23179	broad.mit.edu	37	1	183876181	183876181	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:183876181A>T	uc001gqm.2	+	c.1613A>T	c.(1612-1614)GAC>GTC	p.D538V	RGL1_uc010pof.1_Missense_Mutation_p.D308V|RGL1_uc010pog.1_Missense_Mutation_p.D501V|RGL1_uc010poh.1_Missense_Mutation_p.D501V|RGL1_uc001gqo.2_Missense_Mutation_p.D503V|RGL1_uc010poi.1_Missense_Mutation_p.D474V	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation	503					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			ovary(3)|breast(3)|lung(1)	7										871				0.375	29.897572	30.334093	12	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183876181	183876181	13749	1	A	T	T	T	130	10	RGL1	3	3
FAM5C	339479	broad.mit.edu	37	1	190067649	190067649	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:190067649C>A	uc001gse.1	-	c.1800G>T	c.(1798-1800)AAG>AAT	p.K600N	FAM5C_uc010pot.1_Missense_Mutation_p.K498N	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	600						extracellular region				lung(2)|ovary(1)|kidney(1)	4	Prostate(682;0.198)													0.167411	129.233253	176.23631	75	373	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	190067649	190067649	5817	1	C	A	A	A	259	20	FAM5C	2	2
PKP1	5317	broad.mit.edu	37	1	201293685	201293685	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:201293685C>G	uc001gwd.2	+	c.1873C>G	c.(1873-1875)CAC>GAC	p.H625D	PKP1_uc001gwe.2_Missense_Mutation_p.H604D|PKP1_uc009wzm.2_Missense_Mutation_p.H212D	NM_000299	NP_000290	Q13835	PKP1_HUMAN	plakophilin 1 isoform 1b	625	ARM 8.				cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			ovary(2)	2														0.369565	50.861316	51.549716	17	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	201293685	201293685	12409	1	C	G	G	G	273	21	PKP1	3	3
LMOD1	25802	broad.mit.edu	37	1	201868511	201868511	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:201868511G>T	uc001gxb.2	-	c.1630C>A	c.(1630-1632)CCC>ACC	p.P544T	LMOD1_uc010ppu.1_Missense_Mutation_p.P493T	NM_012134	NP_036266	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	544					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			ovary(1)|pancreas(1)|skin(1)	3														0.205882	14.265803	16.950305	7	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	201868511	201868511	9185	1	G	T	T	T	572	44	LMOD1	2	2
PLEKHA6	22874	broad.mit.edu	37	1	204214839	204214839	+	Silent	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:204214839G>T	uc001hau.2	-	c.1936C>A	c.(1936-1938)CGG>AGG	p.R646R	PLEKHA6_uc009xau.1_5'Flank|PLEKHA6_uc009xav.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	646										ovary(2)|pancreas(1)	3	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)											0.405405	74.861495	75.457214	30	44	KEEP	---	---	---	---	capture		Silent	SNP	204214839	204214839	12486	1	G	T	T	T	506	39	PLEKHA6	1	1
IKBKE	9641	broad.mit.edu	37	1	206666678	206666678	+	Missense_Mutation	SNP	A	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:206666678A>C	uc001hdz.1	+	c.2012A>C	c.(2011-2013)TAC>TCC	p.Y671S	IKBKE_uc009xbv.1_Intron|IKBKE_uc001hea.1_Missense_Mutation_p.Y586S	NM_014002	NP_054721	Q14164	IKKE_HUMAN	IKK-related kinase epsilon	671					DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein phosphorylation|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6	Breast(84;0.137)									537				0.1375	44.383375	64.68486	22	138	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	206666678	206666678	7913	1	A	C	C	C	182	14	IKBKE	4	4
TARBP1	6894	broad.mit.edu	37	1	234599596	234599596	+	Silent	SNP	T	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:234599596T>C	uc001hwd.2	-	c.1386A>G	c.(1384-1386)CCA>CCG	p.P462P		NM_005646	NP_005637	Q13395	TARB1_HUMAN	TAR RNA binding protein 1	462					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			ovary(2)	2	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)											0.333333	16.870595	17.239307	5	10	KEEP	---	---	---	---	capture		Silent	SNP	234599596	234599596	16076	1	T	C	C	C	704	55	TARBP1	4	4
RYR2	6262	broad.mit.edu	37	1	237813270	237813270	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237813270G>T	uc001hyl.1	+	c.7606G>T	c.(7606-7608)GCT>TCT	p.A2536S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2536	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.134409	36.43801	60.554874	25	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237813270	237813270	14249	1	G	T	T	T	598	46	RYR2	2	2
OR2G2	81470	broad.mit.edu	37	1	247752058	247752058	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247752058C>A	uc010pyy.1	+	c.397C>A	c.(397-399)CTC>ATC	p.L133I		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	133	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)											0.372	224.344519	228.001447	93	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247752058	247752058	11404	1	C	A	A	A	416	32	OR2G2	2	2
OR2W3	343171	broad.mit.edu	37	1	248059635	248059635	+	Silent	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248059635C>A	uc001idp.1	+	c.747C>A	c.(745-747)TCC>TCA	p.S249S	OR2W3_uc010pzb.1_Silent_p.S249S	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	249	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|pancreas(1)	3	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)											0.137755	27.705845	52.601951	27	169	KEEP	---	---	---	---	capture		Silent	SNP	248059635	248059635	11439	1	C	A	A	A	275	22	OR2W3	2	2
OR2M4	26245	broad.mit.edu	37	1	248402987	248402987	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248402987G>C	uc010pzh.1	+	c.757G>C	c.(757-759)GGT>CGT	p.G253R		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M,	253	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)											0.146341	18.247531	28.106506	12	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248402987	248402987	11418	1	G	C	C	C	507	39	OR2M4	3	3
PUM1	9698	broad.mit.edu	37	1	31478858	31478858	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:31478858T>C	uc001bsk.1	-	c.670A>G	c.(670-672)ATC>GTC	p.I224V	PUM1_uc001bsg.1_5'UTR|PUM1_uc001bsh.1_Missense_Mutation_p.I188V|PUM1_uc001bsi.1_Missense_Mutation_p.I188V|PUM1_uc001bsj.1_Missense_Mutation_p.I188V|PUM1_uc010oga.1_Intron|PUM1_uc010ogb.1_Intron	NM_001020658	NP_001018494	Q14671	PUM1_HUMAN	pumilio 1 isoform 1	188					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)										0.529412	104.031068	104.06966	27	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31478858	31478858	13283	1	T	C	C	C	676	52	PUM1	4	4
HDAC1	3065	broad.mit.edu	37	1	32796425	32796425	+	Nonsense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:32796425G>T	uc001bvb.1	+	c.895G>T	c.(895-897)GGA>TGA	p.G299*	HDAC1_uc010ohf.1_Nonsense_Mutation_p.G270*|HDAC1_uc001bvc.1_Nonsense_Mutation_p.G55*	NM_004964	NP_004955	Q13547	HDAC1_HUMAN	histone deacetylase 1	299	Histone deacetylase.				anti-apoptosis|blood coagulation|chromatin remodeling|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|negative regulation of gene-specific transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of receptor biosynthetic process	cytosol|NuRD complex|Sin3 complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(1)	1		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)					156				0.253165	43.44955	47.765419	20	59	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	32796425	32796425	7287	1	G	T	T	T	559	43	HDAC1	5	2
C1orf94	84970	broad.mit.edu	37	1	34684357	34684357	+	Missense_Mutation	SNP	T	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:34684357T>G	uc001bxt.2	+	c.1792T>G	c.(1792-1794)TTT>GTT	p.F598V	C1orf94_uc001bxs.3_Missense_Mutation_p.F408V	NM_001134734	NP_001128206	Q6P1W5	CA094_HUMAN	hypothetical protein LOC84970 isoform a	408							protein binding				0		Myeloproliferative disorder(586;0.0393)												0.193878	50.069957	58.636381	19	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34684357	34684357	2147	1	T	G	G	G	728	56	C1orf94	4	4
NPHP4	261734	broad.mit.edu	37	1	5964716	5964716	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:5964716T>C	uc001alq.1	-	c.2104A>G	c.(2104-2106)ATC>GTC	p.I702V	NPHP4_uc001als.1_Non-coding_Transcript|NPHP4_uc009vlt.1_Non-coding_Transcript|NPHP4_uc001alt.1_Non-coding_Transcript|NPHP4_uc009vlu.1_Non-coding_Transcript	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	702					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cilium|membrane|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)										0.163265	15.081186	20.352673	8	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5964716	5964716	10985	1	T	C	C	C	663	51	NPHP4	4	4
C1orf141	400757	broad.mit.edu	37	1	67558821	67558821	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:67558821G>C	uc001ddl.1	-	c.1070C>G	c.(1069-1071)ACG>AGG	p.T357R	C1orf141_uc001ddm.1_Missense_Mutation_p.T357R|C1orf141_uc001ddn.1_Non-coding_Transcript	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN	hypothetical protein LOC400757	357										ovary(1)	1														0.201754	63.468376	72.883241	23	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67558821	67558821	2068	1	G	C	C	C	520	40	C1orf141	3	3
NEGR1	257194	broad.mit.edu	37	1	72400950	72400950	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:72400950C>A	uc001dfw.2	-	c.221G>T	c.(220-222)CGG>CTG	p.R74L	NEGR1_uc001dfv.2_5'UTR|NEGR1_uc010oqs.1_Missense_Mutation_p.R74L	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1 precursor	74	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane				ovary(1)	1		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)										0.338462	63.629521	65.129598	22	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72400950	72400950	10716	1	C	A	A	A	299	23	NEGR1	1	1
CAMTA1	23261	broad.mit.edu	37	1	7792506	7792506	+	Splice_Site_SNP	SNP	A	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:7792506A>G	uc001aoi.2	+	c.2915_splice	c.e12-2	p.D972_splice	CAMTA1_uc010nzv.1_Splice_Site_SNP_p.D59_splice|CAMTA1_uc001aok.3_Splice_Site_SNP_p.D15_splice	NM_015215	NP_056030			calmodulin-binding transcription activator 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding|transcription regulator activity			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)										0.258065	25.988547	27.630523	8	23	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	7792506	7792506	2730	1	A	G	G	G	195	15	CAMTA1	5	4
PER3	8863	broad.mit.edu	37	1	7890002	7890002	+	Silent	SNP	C	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:7890002C>T	uc001aop.2	+	c.2995C>T	c.(2995-2997)CTG>TTG	p.L999L	PER3_uc009vmg.1_Silent_p.L998L|PER3_uc009vmh.1_Silent_p.L991L|PER3_uc010nzw.1_Silent_p.L679L|PER3_uc001aoo.2_Silent_p.L990L	NM_016831	NP_058515	P56645	PER3_HUMAN	period 3	990	Ser-rich.				transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			ovary(1)|pancreas(1)	2	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)										0.191489	36.695789	45.061043	18	76	KEEP	---	---	---	---	capture		Silent	SNP	7890002	7890002	12152	1	C	T	T	T	415	32	PER3	2	2
ZNF644	84146	broad.mit.edu	37	1	91382454	91382454	+	Silent	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:91382454C>A	uc001dnw.2	-	c.3885G>T	c.(3883-3885)CGG>CGT	p.R1295R	ZNF644_uc001dnv.2_Silent_p.R73R|ZNF644_uc001dnx.2_Silent_p.R73R	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	1295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)										0.194444	25.202445	31.480342	14	58	KEEP	---	---	---	---	capture		Silent	SNP	91382454	91382454	18655	1	C	A	A	A	379	30	ZNF644	2	2
LPPR5	163404	broad.mit.edu	37	1	99418635	99418635	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:99418635C>T	uc001dsb.2	-	c.612G>A	c.(610-612)ATG>ATA	p.M204I	LPPR5_uc001dsc.2_Missense_Mutation_p.M204I	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN	phosphatidic acid phosphatase type 2d isoform 1	204	Helical; (Potential).					integral to membrane	hydrolase activity				0														0.185185	26.167208	33.707445	15	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99418635	99418635	9301	1	C	T	T	T	221	17	LPPR5	2	2
C20orf112	140688	broad.mit.edu	37	20	31062425	31062425	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:31062425T>A	uc002wxu.3	-	c.88A>T	c.(88-90)AAC>TAC	p.N30Y	C20orf112_uc010gec.2_5'UTR|C20orf112_uc002wxv.3_Missense_Mutation_p.N30Y|C20orf112_uc002wxw.1_Non-coding_Transcript	NM_080616	NP_542183	Q96MY1	CT112_HUMAN	hypothetical protein LOC140688	30											0														0.191489	15.146033	19.329765	9	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31062425	31062425	2157	20	T	A	A	A	806	62	C20orf112	3	3
NCOA6	23054	broad.mit.edu	37	20	33328755	33328755	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:33328755C>A	uc002xav.2	-	c.5305G>T	c.(5305-5307)GAT>TAT	p.D1769Y	NCOA6_uc002xaw.2_Missense_Mutation_p.D1769Y	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1769	EP300/CRSP3-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding|transcription activator activity			ovary(3)|breast(3)|central_nervous_system(1)	7														0.321839	67.258515	69.716929	28	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33328755	33328755	10632	20	C	A	A	A	416	32	NCOA6	2	2
FAM83C	128876	broad.mit.edu	37	20	33875579	33875579	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:33875579C>A	uc010zux.1	-	c.1003G>T	c.(1003-1005)GTC>TTC	p.V335F	EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Intron	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	hypothetical protein LOC128876	335										ovary(2)	2			BRCA - Breast invasive adenocarcinoma(18;0.00252)											0.324324	31.683994	32.699157	12	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33875579	33875579	5861	20	C	A	A	A	221	17	FAM83C	2	2
RBM12	10137	broad.mit.edu	37	20	34240590	34240590	+	Silent	SNP	T	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:34240590T>A	uc002xdq.2	-	c.2655A>T	c.(2653-2655)TCA>TCT	p.S885S	CPNE1_uc010zvj.1_Intron|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Silent_p.S885S|RBM12_uc002xds.2_Silent_p.S885S	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	885	RRM 3.					nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)											0.357616	147.981351	150.687921	54	97	KEEP	---	---	---	---	capture		Silent	SNP	34240590	34240590	13574	20	T	A	A	A	704	55	RBM12	3	3
C20orf132	140699	broad.mit.edu	37	20	35749391	35749391	+	Silent	SNP	C	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:35749391C>T	uc010zvu.1	-	c.2055G>A	c.(2053-2055)TTG>TTA	p.L685L	C20orf132_uc002xgk.2_Silent_p.L307L	NM_152503	NP_689716	Q9H579	CT132_HUMAN	hypothetical protein LOC140699 isoform 1	Error:Variant_position_missing_in_Q9H579_after_alignment											0		Myeloproliferative disorder(115;0.00878)												0.294118	33.399651	35.337977	15	36	KEEP	---	---	---	---	capture		Silent	SNP	35749391	35749391	2163	20	C	T	T	T	324	25	C20orf132	2	2
SLC12A5	57468	broad.mit.edu	37	20	44683562	44683562	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:44683562G>A	uc010zxl.1	+	c.2756G>A	c.(2755-2757)AGC>AAC	p.S919N	SLC12A5_uc002xrb.2_Missense_Mutation_p.S896N	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	919	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)									0.309091	47.348724	49.138616	17	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44683562	44683562	14881	20	G	A	A	A	442	34	SLC12A5	2	2
KCNB1	3745	broad.mit.edu	37	20	47991437	47991437	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:47991437G>T	uc002xur.1	-	c.660C>A	c.(658-660)TTC>TTA	p.F220L	KCNB1_uc002xus.1_Missense_Mutation_p.F220L	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	220					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)	1			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)											0.361446	81.221323	82.625754	30	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47991437	47991437	8317	20	G	T	T	T	477	37	KCNB1	1	1
PHACTR3	116154	broad.mit.edu	37	20	58348440	58348440	+	Silent	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:58348440G>T	uc002yau.2	+	c.858G>T	c.(856-858)CGG>CGT	p.R286R	PHACTR3_uc002yat.2_Silent_p.R283R|PHACTR3_uc010zzw.1_Silent_p.R245R|PHACTR3_uc002yav.2_Silent_p.R245R|PHACTR3_uc002yaw.2_Silent_p.R245R|PHACTR3_uc002yax.2_Silent_p.R175R	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3 isoform 1	286						nuclear matrix	actin binding|protein phosphatase inhibitor activity			ovary(2)|pancreas(1)	3	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)											0.288889	23.803785	25.640924	13	32	KEEP	---	---	---	---	capture		Silent	SNP	58348440	58348440	12234	20	G	T	T	T	535	42	PHACTR3	2	2
CYYR1	116159	broad.mit.edu	37	21	27840859	27840859	+	Silent	SNP	A	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:27840859A>G	uc002yme.2	-	c.429T>C	c.(427-429)CGT>CGC	p.R143R	CYYR1_uc002ymd.2_Silent_p.R142R|CYYR1_uc011ack.1_Non-coding_Transcript	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	cysteine and tyrosine-rich 1 protein precursor	142	Cytoplasmic (Potential).					integral to membrane					0														0.122807	10.787332	18.725486	7	50	KEEP	---	---	---	---	capture		Silent	SNP	27840859	27840859	4376	21	A	G	G	G	15	2	CYYR1	4	4
ADAMTS5	11096	broad.mit.edu	37	21	28307030	28307030	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:28307030C>A	uc002ymg.2	-	c.1444G>T	c.(1444-1446)GGC>TGC	p.G482C		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	482					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						Esophageal Squamous(53;683 1080 10100 14424 45938)								0.297872	33.927242	35.646683	14	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28307030	28307030	270	21	C	A	A	A	286	22	ADAMTS5	2	2
BACH1	571	broad.mit.edu	37	21	30714991	30714991	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:30714991G>T	uc002ynj.2	+	c.2048G>T	c.(2047-2049)TGT>TTT	p.C683F	BACH1_uc002ynk.2_Missense_Mutation_p.C683F|BACH1_uc002ynl.2_Intron	NM_001186	NP_001177	O14867	BACH1_HUMAN	BTB and CNC homology 1 transcription factor	683					regulation of transcription, DNA-dependent	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|liver(1)	2														0.217391	31.979297	37.069937	15	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30714991	30714991	1304	21	G	T	T	T	624	48	BACH1	2	2
KRTAP23-1	337963	broad.mit.edu	37	21	31720852	31720852	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31720852A>T	uc002yny.1	-	c.73T>A	c.(73-75)TCC>ACC	p.S25T		NM_181624	NP_853655	A1A580	KR231_HUMAN	keratin associated protein 23-1	25						intermediate filament					0														0.41791	71.901855	72.291384	28	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31720852	31720852	8862	21	A	T	T	T	143	11	KRTAP23-1	3	3
HUNK	30811	broad.mit.edu	37	21	33371024	33371024	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:33371024A>G	uc002yph.2	+	c.1672A>G	c.(1672-1674)ATG>GTG	p.M558V		NM_014586	NP_055401	P57058	HUNK_HUMAN	hormonally upregulated Neu-associated kinase	558					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity				0										285				0.183673	18.748141	23.348474	9	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33371024	33371024	7758	21	A	G	G	G	104	8	HUNK	4	4
IGSF5	150084	broad.mit.edu	37	21	41143096	41143096	+	Silent	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:41143096C>A	uc002yyo.2	+	c.672C>A	c.(670-672)GCC>GCA	p.A224A		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily 5 like	224	Ig-like V-type 2.|Extracellular (Potential).					integral to membrane|tight junction					0		Prostate(19;5.35e-06)												0.2125	30.717587	36.846034	17	63	KEEP	---	---	---	---	capture		Silent	SNP	41143096	41143096	7903	21	C	A	A	A	275	22	IGSF5	2	2
SEC14L3	266629	broad.mit.edu	37	22	30866229	30866229	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:30866229G>T	uc003ahy.2	-	c.144C>A	c.(142-144)GAC>GAA	p.D48E	SEC14L3_uc003ahz.2_5'UTR|SEC14L3_uc003aia.2_5'UTR|SEC14L3_uc003aib.2_5'UTR	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	SEC14-like 3	48						integral to membrane|intracellular	lipid binding|transporter activity			ovary(3)|pancreas(1)	4					Vitamin E(DB00163)	Esophageal Squamous(108;290 1516 3584 23771 37333)								0.258065	21.607301	23.237382	8	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30866229	30866229	14469	22	G	T	T	T	464	36	SEC14L3	2	2
XRCC6	2547	broad.mit.edu	37	22	42032775	42032775	+	Splice_Site_SNP	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:42032775G>T	uc003bao.1	+	c.589_splice	c.e5+1	p.G197_splice	XRCC6_uc003bap.1_Splice_Site_SNP_p.G156_splice|XRCC6_uc011apc.1_Splice_Site_SNP_p.G147_splice|XRCC6_uc003baq.1_Splice_Site_SNP_p.G197_splice|XRCC6_uc003bar.1_Splice_Site_SNP_p.G197_splice|XRCC6_uc003bas.1_Splice_Site_SNP_p.G147_splice	NM_001469	NP_001460			ATP-dependent DNA helicase II, 70 kDa subunit						DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of gene-specific transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|transcription activator activity			skin(2)|ovary(1)|kidney(1)	4														0.195402	38.521819	46.049701	17	70	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	42032775	42032775	18040	22	G	T	T	T	572	44	XRCC6	5	2
SLC9A2	6549	broad.mit.edu	37	2	103274403	103274403	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:103274403G>T	uc002tca.2	+	c.670G>T	c.(670-672)GCT>TCT	p.A224S		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	solute carrier family 9 (sodium/hydrogen	224	Helical; Name=F/M5A; (Potential).					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			central_nervous_system(3)|breast(2)	5														0.291866	150.076688	158.199992	61	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103274403	103274403	15209	2	G	T	T	T	598	46	SLC9A2	2	2
ACOXL	55289	broad.mit.edu	37	2	111542323	111542323	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:111542323G>T	uc010yxk.1	+	c.90G>T	c.(88-90)AAG>AAT	p.K30N	ACOXL_uc010fkc.2_Missense_Mutation_p.K30N|ACOXL_uc002tgr.3_Missense_Mutation_p.K30N	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	acyl-Coenzyme A oxidase-like 1	30					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity				0										368				0.158879	27.212504	39.07553	17	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111542323	111542323	162	2	G	T	T	T	425	33	ACOXL	2	2
POTEF	728378	broad.mit.edu	37	2	130832264	130832264	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:130832264C>T	uc010fmh.2	-	c.2781G>A	c.(2779-2781)ATG>ATA	p.M927I		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	prostate, ovary, testis expressed protein on	927	Actin-like.					cell cortex	ATP binding			ovary(2)|skin(1)	3														0.134328	10.73736	19.42231	9	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130832264	130832264	12695	2	C	T	T	T	273	21	POTEF	2	2
LRP1B	53353	broad.mit.edu	37	2	141004719	141004719	+	Silent	SNP	G	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141004719G>A	uc002tvj.1	-	c.13260C>T	c.(13258-13260)AAC>AAT	p.N4420N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4420	Extracellular (Potential).|EGF-like 14.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.378378	39.139056	39.619983	14	23	KEEP	---	---	---	---	capture		Silent	SNP	141004719	141004719	9328	2	G	A	A	A	464	36	LRP1B	2	2
LRP1B	53353	broad.mit.edu	37	2	141208161	141208161	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141208161C>G	uc002tvj.1	-	c.10033G>C	c.(10033-10035)GGA>CGA	p.G3345R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3345	Extracellular (Potential).|LDL-receptor class A 21.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.208333	50.243079	57.808288	20	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141208161	141208161	9328	2	C	G	G	G	273	21	LRP1B	3	3
NBAS	51594	broad.mit.edu	37	2	15555760	15555760	+	Silent	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:15555760C>A	uc002rcc.1	-	c.2847G>T	c.(2845-2847)GTG>GTT	p.V949V	NBAS_uc010exl.1_Intron|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	949										ovary(2)|liver(1)	3														0.333333	71.626949	73.776771	29	58	KEEP	---	---	---	---	capture		Silent	SNP	15555760	15555760	10582	2	C	A	A	A	262	21	NBAS	2	2
SCN2A	6326	broad.mit.edu	37	2	166243334	166243334	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:166243334A>T	uc002udc.2	+	c.4630A>T	c.(4630-4632)AAC>TAC	p.N1544Y	SCN2A_uc002udd.2_Missense_Mutation_p.N1544Y|SCN2A_uc002ude.2_Missense_Mutation_p.N1544Y	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1544	IV.|Helical; Name=S1 of repeat IV; (Potential).				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)									0.345679	74.377436	76.07974	28	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166243334	166243334	14398	2	A	T	T	T	169	13	SCN2A	3	3
PDK1	5163	broad.mit.edu	37	2	173429789	173429789	+	Nonsense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:173429789G>T	uc002uhq.1	+	c.739G>T	c.(739-741)GAA>TAA	p.E247*	PDK1_uc010zdz.1_Nonsense_Mutation_p.E72*|PDK1_uc010zea.1_Non-coding_Transcript|PDK1_uc002uhr.2_Nonsense_Mutation_p.E227*|PDK1_uc002uhs.2_Nonsense_Mutation_p.E227*|PDK1_uc010zeb.1_Nonsense_Mutation_p.E247*	NM_002610	NP_002601	Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase 1 precursor	227	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			lung(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.12)							211				0.175926	31.849325	42.554253	19	89	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	173429789	173429789	12096	2	G	T	T	T	585	45	PDK1	5	2
COL5A2	1290	broad.mit.edu	37	2	189923246	189923246	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:189923246C>A	uc002uqk.2	-	c.2138G>T	c.(2137-2139)CGA>CTA	p.R713L	COL5A2_uc010frx.2_Missense_Mutation_p.R289L	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	713					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)											0.209302	21.358442	24.716858	9	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189923246	189923246	3835	2	C	A	A	A	403	31	COL5A2	1	1
MYT1L	23040	broad.mit.edu	37	2	1926808	1926808	+	Silent	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:1926808G>T	uc002qxe.2	-	c.733C>A	c.(733-735)CGG>AGG	p.R245R	MYT1L_uc002qxd.2_Silent_p.R245R|MYT1L_uc010ewl.1_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	245					cell differentiation|nervous system development|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)										0.345238	148.251285	151.826321	58	110	KEEP	---	---	---	---	capture		Silent	SNP	1926808	1926808	10502	2	G	T	T	T	480	37	MYT1L	1	1
PARD3B	117583	broad.mit.edu	37	2	206480498	206480499	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:206480498_206480499GG>TT	uc002var.1	+	c.3579_3580GG>TT	c.(3577-3582)CAGGAT>CATTAT	p.1193_1194QD>HY	PARD3B_uc002vao.1_Missense_Mutation_p.1092_1093QD>HY|PARD3B_uc002vap.1_Missense_Mutation_p.1131_1132QD>HY|PARD3B_uc002vaq.1_Missense_Mutation_p.1124_1125QD>HY	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	1193_1194					cell cycle|cell division	endomembrane system|tight junction				ovary(1)|breast(1)	2		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)										0.36036	107.642949	109.558768	40	71	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	206480498	206480499	11861	2	GG	TT	TT	TT	451	35	PARD3B	2	2
CPS1	1373	broad.mit.edu	37	2	211525369	211525369	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:211525369T>C	uc010fur.2	+	c.3935T>C	c.(3934-3936)GTT>GCT	p.V1312A	CPS1_uc002vee.3_Missense_Mutation_p.V1306A|CPS1_uc010fus.2_Missense_Mutation_p.V855A	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform a	1306					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)										0.226804	68.204088	74.845333	22	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	211525369	211525369	3961	2	T	C	C	C	780	60	CPS1	4	4
MOGAT1	116255	broad.mit.edu	37	2	223574470	223574470	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:223574470C>G	uc010fws.1	+	c.869C>G	c.(868-870)CCT>CGT	p.P290R	MOGAT1_uc010fwt.1_Missense_Mutation_p.P250R	NM_058165	NP_477513	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	290					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)	1		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		Ovarian(93;205 1446 2385 11581 25911)								0.163462	60.205062	82.620173	34	174	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	223574470	223574470	10085	2	C	G	G	G	312	24	MOGAT1	3	3
TRIP12	9320	broad.mit.edu	37	2	230655921	230655921	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:230655921C>T	uc002vpx.1	-	c.4381G>A	c.(4381-4383)GGT>AGT	p.G1461S	TRIP12_uc002vpw.1_Missense_Mutation_p.G1413S|TRIP12_uc002vpy.1_Missense_Mutation_p.G1143S	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1413					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|breast(1)|central_nervous_system(1)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)										0.194175	41.837618	50.828959	20	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	230655921	230655921	17106	2	C	T	T	T	273	21	TRIP12	2	2
ESPNL	339768	broad.mit.edu	37	2	239039107	239039107	+	Silent	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:239039107C>A	uc002vxq.3	+	c.1752C>A	c.(1750-1752)CCC>CCA	p.P584P	ESPNL_uc010fyw.2_Silent_p.P280P	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	espin-like	584										pancreas(1)	1		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)										0.444444	11.307912	11.330283	4	5	KEEP	---	---	---	---	capture		Silent	SNP	239039107	239039107	5448	2	C	A	A	A	288	23	ESPNL	1	1
SEPT2	4735	broad.mit.edu	37	2	242276804	242276804	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:242276804A>G	uc010zop.1	+	c.454A>G	c.(454-456)ACA>GCA	p.T152A	SEPT2_uc002wbc.2_Missense_Mutation_p.T117A|SEPT2_uc002wbd.2_Missense_Mutation_p.T117A|SEPT2_uc002wbf.2_Missense_Mutation_p.T117A|SEPT2_uc002wbg.2_Missense_Mutation_p.T117A|SEPT2_uc002wbh.2_Missense_Mutation_p.T127A	NM_006155	NP_006146	Q15019	SEPT2_HUMAN	septin 2	117					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(1)	1		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)										0.126667	37.124926	57.514456	19	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	242276804	242276804	14550	2	A	G	G	G	130	10	SEPT2	4	4
SPAST	6683	broad.mit.edu	37	2	32289037	32289037	+	Missense_Mutation	SNP	A	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:32289037A>C	uc002roc.2	+	c.137A>C	c.(136-138)CAT>CCT	p.H46P	SPAST_uc002rod.2_Missense_Mutation_p.H46P	NM_014946	NP_055761	Q9UBP0	SPAST_HUMAN	spastin isoform 1	46	Required for interaction with RTN1.|Required for nuclear localization.|Required for midbody localization.|Required for interaction with ATL1.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)													0.2	16.937424	19.444655	6	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32289037	32289037	15505	2	A	C	C	C	104	8	SPAST	4	4
SLC8A1	6546	broad.mit.edu	37	2	40655792	40655792	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:40655792C>A	uc002rrx.2	-	c.1629G>T	c.(1627-1629)GAG>GAT	p.E543D	SLC8A1_uc002rry.2_Missense_Mutation_p.E543D|SLC8A1_uc002rrz.2_Missense_Mutation_p.E543D|SLC8A1_uc002rsa.2_Missense_Mutation_p.E543D|SLC8A1_uc002rsd.3_Missense_Mutation_p.E543D|SLC8A1_uc002rsb.1_Missense_Mutation_p.E543D|SLC8A1_uc010fan.1_Missense_Mutation_p.E543D|SLC8A1_uc002rsc.1_Missense_Mutation_p.E543D	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	543	Calx-beta 2.|Cytoplasmic (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)	3					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)									0.181034	35.59692	46.710716	21	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40655792	40655792	15203	2	C	A	A	A	311	24	SLC8A1	2	2
PRKCE	5581	broad.mit.edu	37	2	46211804	46211804	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:46211804G>C	uc002rut.2	+	c.808G>C	c.(808-810)GGT>CGT	p.G270R		NM_005400	NP_005391	Q02156	KPCE_HUMAN	protein kinase C, epsilon	270	Phorbol-ester/DAG-type 2.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation|protein phosphorylation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity			lung(3)|ovary(2)|large_intestine(1)|kidney(1)	7		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)							460				0.151515	58.797952	85.647655	35	196	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46211804	46211804	12954	2	G	C	C	C	559	43	PRKCE	3	3
FSHR	2492	broad.mit.edu	37	2	49216144	49216144	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:49216144C>A	uc002rww.2	-	c.496G>T	c.(496-498)GTG>TTG	p.V166L	FSHR_uc002rwx.2_Missense_Mutation_p.V166L|FSHR_uc010fbn.2_Intron|FSHR_uc010fbo.1_Non-coding_Transcript	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	166	LRR 5.|Extracellular (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)	4		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)									0.176471	11.228939	14.585339	6	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49216144	49216144	6324	2	C	A	A	A	247	19	FSHR	1	1
CCDC85A	114800	broad.mit.edu	37	2	56420277	56420277	+	Silent	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:56420277G>T	uc002rzn.2	+	c.942G>T	c.(940-942)CCG>CCT	p.P314P		NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	314	His-rich.									breast(3)|ovary(2)	5			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)											0.254902	60.909653	66.465758	26	76	KEEP	---	---	---	---	capture		Silent	SNP	56420277	56420277	2983	2	G	T	T	T	496	39	CCDC85A	1	1
CTNNA2	1496	broad.mit.edu	37	2	80831226	80831226	+	Silent	SNP	T	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:80831226T>A	uc010ysh.1	+	c.2217T>A	c.(2215-2217)TCT>TCA	p.S739S	CTNNA2_uc010yse.1_Silent_p.S739S|CTNNA2_uc010ysf.1_Silent_p.S739S|CTNNA2_uc010ysg.1_Silent_p.S739S|CTNNA2_uc010ysi.1_Silent_p.S371S|CTNNA2_uc010ysj.1_Silent_p.S68S	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	739					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)	8										489				0.188679	19.618045	24.426396	10	43	KEEP	---	---	---	---	capture		Silent	SNP	80831226	80831226	4172	2	T	A	A	A	704	55	CTNNA2	3	3
KIDINS220	57498	broad.mit.edu	37	2	8919174	8919174	+	Silent	SNP	C	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:8919174C>G	uc002qzc.2	-	c.2466G>C	c.(2464-2466)GTG>GTC	p.V822V	KIDINS220_uc010yiv.1_Silent_p.V588V|KIDINS220_uc002qzd.2_Silent_p.V780V|KIDINS220_uc010yiw.1_Silent_p.V823V	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	822	KAP NTPase.|Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)													0.141593	67.036752	95.045057	32	194	KEEP	---	---	---	---	capture		Silent	SNP	8919174	8919174	8582	2	C	G	G	G	314	25	KIDINS220	3	3
SNRNP200	23020	broad.mit.edu	37	2	96953686	96953686	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:96953686C>T	uc002svu.2	-	c.3280G>A	c.(3280-3282)GCG>ACG	p.A1094T	SNRNP200_uc010yuj.1_5'Flank|SNRNP200_uc002svw.1_Missense_Mutation_p.A166T	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	1094	SEC63 1.				cis assembly of pre-catalytic spliceosome|response to stimulus|visual perception	catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|large_intestine(1)|skin(1)	7														0.114943	11.78307	24.497136	10	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96953686	96953686	15352	2	C	T	T	T	364	28	SNRNP200	2	2
TIGIT	201633	broad.mit.edu	37	3	114026903	114026903	+	Silent	SNP	C	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:114026903C>T	uc003ebg.1	+	c.660C>T	c.(658-660)GCC>GCT	p.A220A		NM_173799	NP_776160	Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	220	Cytoplasmic (Potential).				negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)	1														0.131915	39.704939	70.626331	31	204	KEEP	---	---	---	---	capture		Silent	SNP	114026903	114026903	16431	3	C	T	T	T	288	23	TIGIT	1	1
C3orf1	51300	broad.mit.edu	37	3	119217733	119217733	+	Silent	SNP	G	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:119217733G>A	uc003ecn.2	+	c.153G>A	c.(151-153)CCG>CCA	p.P51P	C3orf1_uc003eco.2_Non-coding_Transcript|C3orf1_uc003ecp.2_5'Flank	NM_016589	NP_057673	Q9NPL8	CC001_HUMAN	hypothetical protein LOC51300	51						integral to membrane|mitochondrial inner membrane	protein transporter activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.186)										0.301887	226.043885	235.305261	80	185	KEEP	---	---	---	---	capture		Silent	SNP	119217733	119217733	2298	3	G	A	A	A	496	39	C3orf1	1	1
GTF2E1	2960	broad.mit.edu	37	3	120469602	120469602	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:120469602G>T	uc003edz.3	+	c.203G>T	c.(202-204)GGA>GTA	p.G68V	GTF2E1_uc003edy.2_Missense_Mutation_p.G68V	NM_005513	NP_005504	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1,	68	HTH TFE/IIEalpha-type.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|RNA polymerase II transcription factor activity|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.159)										0.280488	50.389774	53.943754	23	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120469602	120469602	7136	3	G	T	T	T	533	41	GTF2E1	2	2
SLC15A2	6565	broad.mit.edu	37	3	121634151	121634151	+	Silent	SNP	A	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:121634151A>G	uc003eep.2	+	c.606A>G	c.(604-606)ACA>ACG	p.T202T	SLC15A2_uc011bjn.1_Silent_p.T171T	NM_021082	NP_066568	Q16348	S15A2_HUMAN	peptide transporter 2 isoform a	202	Helical; (Potential).				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding				0				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)									0.158416	34.548745	45.770493	16	85	KEEP	---	---	---	---	capture		Silent	SNP	121634151	121634151	14894	3	A	G	G	G	67	6	SLC15A2	4	4
CASR	846	broad.mit.edu	37	3	122003461	122003461	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:122003461C>G	uc003eew.3	+	c.2690C>G	c.(2689-2691)GCC>GGC	p.A897G	CASR_uc003eev.3_Missense_Mutation_p.A887G	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	887	Cytoplasmic (Potential).|Interaction with RNF19A.				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)									0.238095	27.430546	30.061574	10	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122003461	122003461	2801	3	C	G	G	G	338	26	CASR	3	3
MYLK	4638	broad.mit.edu	37	3	123458844	123458844	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:123458844A>T	uc003ego.2	-	c.378T>A	c.(376-378)AGT>AGA	p.S126R	MYLK_uc011bjw.1_Missense_Mutation_p.S126R|MYLK_uc003egp.2_Missense_Mutation_p.S126R|MYLK_uc003egq.2_Missense_Mutation_p.S126R|MYLK_uc003egr.2_Missense_Mutation_p.S126R|MYLK_uc003egs.2_5'UTR|MYLK_uc010hrs.1_Missense_Mutation_p.S126R	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	126					aorta smooth muscle tissue morphogenesis|muscle contraction|protein phosphorylation	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)	6		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)						766				0.294118	165.515207	173.88467	65	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123458844	123458844	10451	3	A	T	T	T	24	2	MYLK	3	3
EPHB1	2047	broad.mit.edu	37	3	134911494	134911494	+	Silent	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:134911494G>T	uc003eqt.2	+	c.1959G>T	c.(1957-1959)CTG>CTT	p.L653L	EPHB1_uc003equ.2_Silent_p.L214L	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	653	Cytoplasmic (Potential).|Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(7)|ovary(4)|stomach(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	18									p.L653L(MKN1-Tumor)	376				0.340909	38.307763	39.293799	15	29	KEEP	---	---	---	---	capture		Silent	SNP	134911494	134911494	5367	3	G	T	T	T	574	45	EPHB1	2	2
FBLN2	2199	broad.mit.edu	37	3	13613083	13613083	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:13613083C>A	uc011ava.1	+	c.1228C>A	c.(1228-1230)CAA>AAA	p.Q410K	FBLN2_uc011auz.1_Missense_Mutation_p.Q436K|FBLN2_uc011avb.1_Missense_Mutation_p.Q410K|FBLN2_uc011avc.1_Missense_Mutation_p.Q410K	NM_001004019	NP_001004019	P98095	FBLN2_HUMAN	fibulin 2 isoform a precursor	410	Subdomain NB (Cys-free).|N.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)											0.416667	27.126287	27.275801	10	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13613083	13613083	5935	3	C	A	A	A	325	25	FBLN2	2	2
TRIM42	287015	broad.mit.edu	37	3	140406710	140406710	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:140406710G>A	uc003eto.1	+	c.1186G>A	c.(1186-1188)GAG>AAG	p.E396K		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	tripartite motif-containing 42	396	Potential.					intracellular	zinc ion binding			lung(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)|skin(1)	6										261				0.102941	9.842525	31.211735	14	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140406710	140406710	17061	3	G	A	A	A	533	41	TRIM42	2	2
CAPN7	23473	broad.mit.edu	37	3	15282026	15282026	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:15282026G>T	uc003bzn.2	+	c.1454G>T	c.(1453-1455)TGG>TTG	p.W485L		NM_014296	NP_055111	Q9Y6W3	CAN7_HUMAN	calpain 7	485	Calpain catalytic.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			ovary(1)	1														0.431034	71.463273	71.70435	25	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15282026	15282026	2749	3	G	T	T	T	611	47	CAPN7	2	2
WDR49	151790	broad.mit.edu	37	3	167246840	167246840	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:167246840C>A	uc003fev.1	-	c.1350G>T	c.(1348-1350)GAG>GAT	p.E450D	WDR49_uc003feu.1_Missense_Mutation_p.E275D|WDR49_uc011bpd.1_Missense_Mutation_p.E514D|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	450	WD 7.									large_intestine(1)|ovary(1)	2														0.282051	26.405398	28.072063	11	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167246840	167246840	17875	3	C	A	A	A	311	24	WDR49	2	2
TBL1XR1	79718	broad.mit.edu	37	3	176771667	176771667	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:176771667T>C	uc003fiw.3	-	c.98A>G	c.(97-99)CAT>CGT	p.H33R	TBL1XR1_uc003fix.3_Missense_Mutation_p.H33R|TBL1XR1_uc011bpz.1_5'UTR|TBL1XR1_uc003fiy.2_Missense_Mutation_p.H33R	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	33	LisH.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|promoter binding|protein N-terminus binding|transcription activator activity|transcription corepressor activity			ovary(1)	1	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)											0.264368	58.093921	62.456213	23	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176771667	176771667	16166	3	T	C	C	C	663	51	TBL1XR1	4	4
AP2M1	1173	broad.mit.edu	37	3	183896907	183896907	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183896907G>T	uc011bqx.1	+	c.337G>T	c.(337-339)GAT>TAT	p.D113Y	AP2M1_uc003fmw.2_Missense_Mutation_p.D113Y|AP2M1_uc003fmx.2_Missense_Mutation_p.D113Y|AP2M1_uc003fmy.2_Missense_Mutation_p.D113Y|AP2M1_uc011bqy.1_5'Flank|AP2M1_uc011bqz.1_5'Flank	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	113					axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity				0	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)											0.289256	78.860791	83.688392	35	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183896907	183896907	752	3	G	T	T	T	533	41	AP2M1	2	2
EXOSC7	23016	broad.mit.edu	37	3	45030648	45030648	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:45030648A>G	uc003coi.2	+	c.74A>G	c.(73-75)GAT>GGT	p.D25G	EXOSC7_uc003coh.1_5'UTR|EXOSC7_uc011bae.1_Missense_Mutation_p.D25G|EXOSC7_uc010his.1_Intron|EXOSC7_uc003coj.2_Missense_Mutation_p.D25G	NM_015004	NP_055819	Q15024	EXOS7_HUMAN	exosome component 7	25					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|protein binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)										0.416667	47.073427	47.301	15	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45030648	45030648	5513	3	A	G	G	G	156	12	EXOSC7	4	4
SETD2	29072	broad.mit.edu	37	3	47158149	47158149	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:47158149C>A	uc003cqv.2	-	c.4517G>T	c.(4516-4518)GGG>GTG	p.G1506V	SETD2_uc003cqs.2_Missense_Mutation_p.G1517V	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1517	AWS.				oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)										0.41573	98.765507	99.314546	37	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47158149	47158149	14620	3	C	A	A	A	286	22	SETD2	2	2
DOCK3	1795	broad.mit.edu	37	3	51264852	51264852	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:51264852C>A	uc011bds.1	+	c.1516C>A	c.(1516-1518)CGC>AGC	p.R506S		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	506	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)						1034				0.476923	96.720693	96.750782	31	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51264852	51264852	4872	3	C	A	A	A	351	27	DOCK3	1	1
ERC2	26059	broad.mit.edu	37	3	55922479	55922479	+	Missense_Mutation	SNP	T	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:55922479T>G	uc003dhr.1	-	c.2502A>C	c.(2500-2502)GAA>GAC	p.E834D	ERC2_uc003dhq.1_Non-coding_Transcript|ERC2_uc003dht.1_Missense_Mutation_p.E313D	NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	834	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)										0.46875	233.525583	233.659824	75	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55922479	55922479	5404	3	T	G	G	G	725	56	ERC2	4	4
GRM7	2917	broad.mit.edu	37	3	7721839	7721839	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:7721839C>A	uc003bql.2	+	c.2555C>A	c.(2554-2556)CCT>CAT	p.P852H	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.P852H|GRM7_uc003bqm.2_Missense_Mutation_p.P852H|GRM7_uc003bqn.1_Missense_Mutation_p.P435H	NM_181874	NP_870989	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform b	852	Cytoplasmic (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)	4					L-Glutamic Acid(DB00142)									0.423729	67.757927	68.058791	25	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7721839	7721839	7081	3	C	A	A	A	312	24	GRM7	2	2
ADH1B	125	broad.mit.edu	37	4	100232725	100232725	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:100232725G>T	uc003hus.3	-	c.917C>A	c.(916-918)CCT>CAT	p.P306H	ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Missense_Mutation_p.P266H|ADH1B_uc011ceh.1_Missense_Mutation_p.P151H|ADH1B_uc011cei.1_Missense_Mutation_p.P266H	NM_000668	NP_000659	P00325	ADH1B_HUMAN	class I alcohol dehydrogenase, beta subunit	306					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			ovary(1)|breast(1)	2				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)									0.1625	41.745805	59.079053	26	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100232725	100232725	309	4	G	T	T	T	455	35	ADH1B	2	2
C4orf17	84103	broad.mit.edu	37	4	100443752	100443752	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:100443752A>T	uc003huw.2	+	c.223A>T	c.(223-225)AGG>TGG	p.R75W	C4orf17_uc003hux.2_Non-coding_Transcript	NM_032149	NP_115525	Q53FE4	CD017_HUMAN	hypothetical protein LOC84103	75											0				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)										0.145455	23.729359	37.032438	16	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100443752	100443752	2347	4	A	T	T	T	88	7	C4orf17	3	3
DNAJB14	79982	broad.mit.edu	37	4	100829884	100829884	+	Silent	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:100829884C>A	uc003hvl.2	-	c.621G>T	c.(619-621)GGG>GGT	p.G207G	DNAJB14_uc003hvk.2_Silent_p.G122G|DNAJB14_uc010ili.2_Silent_p.G140G	NM_001031723	NP_001026893	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	207					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding				0				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)										0.269841	39.042258	42.057	17	46	KEEP	---	---	---	---	capture		Silent	SNP	100829884	100829884	4802	4	C	A	A	A	275	22	DNAJB14	2	2
ENPEP	2028	broad.mit.edu	37	4	111427891	111427891	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:111427891G>T	uc003iab.3	+	c.1017G>T	c.(1015-1017)ATG>ATT	p.M339I		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	339	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			ovary(1)|breast(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)									0.192308	8.757585	11.059336	5	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111427891	111427891	5321	4	G	T	T	T	585	45	ENPEP	2	2
ANK2	287	broad.mit.edu	37	4	114279144	114279144	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:114279144T>A	uc003ibe.3	+	c.9370T>A	c.(9370-9372)TAT>AAT	p.Y3124N	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.Y426N|ANK2_uc011cgb.1_Missense_Mutation_p.Y3139N	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3091					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)	13		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)										0.324675	63.575549	65.662268	25	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114279144	114279144	624	4	T	A	A	A	689	53	ANK2	3	3
ANK2	287	broad.mit.edu	37	4	114290956	114290956	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:114290956G>A	uc003ibe.3	+	c.11605G>A	c.(11605-11607)GAA>AAA	p.E3869K	ANK2_uc003ibd.3_Missense_Mutation_p.E1775K|ANK2_uc003ibf.3_Missense_Mutation_p.E1784K|ANK2_uc011cgc.1_Missense_Mutation_p.E960K|ANK2_uc003ibg.3_Missense_Mutation_p.E768K|ANK2_uc003ibh.3_Missense_Mutation_p.E458K|ANK2_uc011cgd.1_Missense_Mutation_p.E1171K	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3836					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)	13		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)										0.34375	53.964149	55.37526	22	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114290956	114290956	624	4	G	A	A	A	585	45	ANK2	2	2
BOD1L	259282	broad.mit.edu	37	4	13605199	13605199	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:13605199C>G	uc003gmz.1	-	c.3325G>C	c.(3325-3327)GGT>CGT	p.G1109R	BOD1L_uc010idr.1_Missense_Mutation_p.G446R	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	1109							DNA binding			ovary(5)|breast(1)	6														0.135135	25.643543	39.96901	15	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13605199	13605199	1508	4	C	G	G	G	273	21	BOD1L	3	3
ZNF827	152485	broad.mit.edu	37	4	146823533	146823533	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:146823533T>A	uc003ikn.2	-	c.878A>T	c.(877-879)GAG>GTG	p.E293V	ZNF827_uc003ikm.2_Missense_Mutation_p.E293V|ZNF827_uc010iox.2_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)													0.363636	96.958361	98.761916	40	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146823533	146823533	18779	4	T	A	A	A	702	54	ZNF827	3	3
DCHS2	54798	broad.mit.edu	37	4	155156682	155156682	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:155156682C>A	uc003inw.2	-	c.7757G>T	c.(7756-7758)AGA>ATA	p.R2586I		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2586					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)										0.224806	59.110606	68.088775	29	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155156682	155156682	4459	4	C	A	A	A	416	32	DCHS2	2	2
NPY5R	4889	broad.mit.edu	37	4	164271576	164271576	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:164271576G>T	uc003iqn.2	+	c.151G>T	c.(151-153)GTA>TTA	p.V51L		NM_006174	NP_006165	Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	51	Helical; Name=1; (Potential).				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane					0	all_hematologic(180;0.166)	Prostate(90;0.109)				Melanoma(139;1287 1774 9781 19750 25599)								0.348101	152.064411	155.287789	55	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164271576	164271576	11015	4	G	T	T	T	624	48	NPY5R	2	2
NPY5R	4889	broad.mit.edu	37	4	164271917	164271917	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:164271917G>T	uc003iqn.2	+	c.492G>T	c.(490-492)TGG>TGT	p.W164C		NM_006174	NP_006165	Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	164	Helical; Name=4; (Potential).				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane					0	all_hematologic(180;0.166)	Prostate(90;0.109)				Melanoma(139;1287 1774 9781 19750 25599)								0.183673	85.431145	113.103251	54	240	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164271917	164271917	11015	4	G	T	T	T	533	41	NPY5R	2	2
MORF4	10934	broad.mit.edu	37	4	174537269	174537269	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:174537269G>T	uc011cke.1	-	c.526C>A	c.(526-528)CTG>ATG	p.L176M		NM_006792	NP_006783			mortality factor 4												0		Prostate(90;0.00201)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0765)|all_hematologic(60;0.107)		all cancers(43;1.88e-18)|Epithelial(43;1.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)										0.32967	151.022458	155.710908	60	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	174537269	174537269	10096	4	G	T	T	T	451	35	MORF4	2	2
TRIML2	205860	broad.mit.edu	37	4	189012595	189012595	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:189012595C>A	uc011cle.1	-	c.1321G>T	c.(1321-1323)GAC>TAC	p.D441Y	TRIML2_uc003izj.1_Missense_Mutation_p.D194Y|TRIML2_uc003izk.1_Missense_Mutation_p.D174Y|TRIML2_uc003izl.2_Missense_Mutation_p.D366Y	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	366	B30.2/SPRY.						ligase activity			central_nervous_system(2)	2		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)										0.437086	176.799174	177.324467	66	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189012595	189012595	17101	4	C	A	A	A	416	32	TRIML2	2	2
TRIML1	339976	broad.mit.edu	37	4	189065202	189065202	+	Silent	SNP	C	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:189065202C>T	uc003izm.1	+	c.771C>T	c.(769-771)CTC>CTT	p.L257L	TRIML1_uc003izn.1_5'UTR	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	257					multicellular organismal development		ligase activity|zinc ion binding			ovary(1)|breast(1)|pancreas(1)	3		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		Melanoma(31;213 1036 16579 23968 32372)								0.380952	21.188569	21.451658	8	13	KEEP	---	---	---	---	capture		Silent	SNP	189065202	189065202	17100	4	C	T	T	T	405	32	TRIML1	2	2
CCKAR	886	broad.mit.edu	37	4	26490990	26490990	+	Missense_Mutation	SNP	T	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:26490990T>G	uc003gse.1	-	c.229A>C	c.(229-231)AAC>CAC	p.N77H		NM_000730	NP_000721	P32238	CCKAR_HUMAN	cholecystokinin A receptor	77	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			pancreas(1)	1		Breast(46;0.0503)			Ceruletide(DB00403)									0.264706	53.633497	57.027003	18	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26490990	26490990	3005	4	T	G	G	G	819	63	CCKAR	4	4
RGS12	6002	broad.mit.edu	37	4	3427249	3427249	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:3427249G>T	uc003ggw.2	+	c.3293G>T	c.(3292-3294)CGG>CTG	p.R1098L	RGS12_uc003ggv.2_Missense_Mutation_p.R1098L|RGS12_uc003ggy.1_Missense_Mutation_p.R496L|RGS12_uc003ggz.2_Missense_Mutation_p.R450L|RGS12_uc010icu.1_Missense_Mutation_p.R297L|RGS12_uc011bvs.1_Missense_Mutation_p.R440L|RGS12_uc003gha.2_Missense_Mutation_p.R440L|RGS12_uc010icv.2_Missense_Mutation_p.R297L|RGS12_uc003ghb.2_Missense_Mutation_p.R297L	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	1098	RBD 2.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)										0.300412	179.571009	188.225147	73	170	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3427249	3427249	13769	4	G	T	T	T	507	39	RGS12	1	1
ARAP2	116984	broad.mit.edu	37	4	36150077	36150077	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:36150077C>T	uc003gsq.1	-	c.2950G>A	c.(2950-2952)GGA>AGA	p.G984R		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	984	PH 3.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)	2														0.375	24.965105	25.295689	9	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36150077	36150077	850	4	C	T	T	T	273	21	ARAP2	2	2
KDR	3791	broad.mit.edu	37	4	55972900	55972900	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:55972900A>G	uc003has.2	-	c.1490T>C	c.(1489-1491)ATT>ACT	p.I497T	KDR_uc003hat.1_Missense_Mutation_p.I497T|KDR_uc011bzx.1_Missense_Mutation_p.I497T	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	497	Ig-like C2-type 5.|Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|protein phosphorylation|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(9)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|ovary(2)|kidney(1)	22	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)					1022	TSP Lung(20;0.16)			0.231884	46.064527	50.607964	16	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55972900	55972900	8445	4	A	G	G	G	52	4	KDR	4	4
KDR	3791	broad.mit.edu	37	4	55981184	55981185	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:55981184_55981185GG>TT	uc003has.2	-	c.514_515CC>AA	c.(514-516)CCT>AAT	p.P172N	KDR_uc003hat.1_Missense_Mutation_p.P172N|KDR_uc011bzx.1_Missense_Mutation_p.P172N	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	172	Ig-like C2-type 2.|Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|protein phosphorylation|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(9)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|ovary(2)|kidney(1)	22	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)					1022	TSP Lung(20;0.16)			0.243243	22.168589	24.384022	9	28	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	55981184	55981185	8445	4	GG	TT	TT	TT	455	35	KDR	2	2
NPFFR2	10886	broad.mit.edu	37	4	73013093	73013093	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:73013093T>A	uc003hgg.2	+	c.1133T>A	c.(1132-1134)CTC>CAC	p.L378H	NPFFR2_uc010iig.1_Missense_Mutation_p.L160H|NPFFR2_uc003hgi.2_Missense_Mutation_p.L279H|NPFFR2_uc003hgh.2_Missense_Mutation_p.L276H|NPFFR2_uc003hgj.2_Non-coding_Transcript	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2 isoform 1	378	Helical; Name=6; (Potential).				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)											0.253521	38.911768	42.831752	18	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73013093	73013093	10982	4	T	A	A	A	702	54	NPFFR2	3	3
MAPK10	5602	broad.mit.edu	37	4	87080500	87080500	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:87080500G>A	uc003hpq.2	-	c.187C>T	c.(187-189)CGC>TGC	p.R63C	MAPK10_uc010ikg.2_Missense_Mutation_p.R25C|MAPK10_uc003hpr.2_Missense_Mutation_p.R25C|MAPK10_uc003hps.2_Missense_Mutation_p.R63C|MAPK10_uc003hpt.2_Missense_Mutation_p.R63C|MAPK10_uc003hpu.2_Missense_Mutation_p.R63C|MAPK10_uc003hpv.2_5'UTR|MAPK10_uc010ikh.1_Non-coding_Transcript	NM_138982	NP_620448	P53779	MK10_HUMAN	mitogen-activated protein kinase 10 isoform 2	63					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			central_nervous_system(1)	1		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)						300				0.282828	63.648517	67.850174	28	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87080500	87080500	9655	4	G	A	A	A	494	38	MAPK10	1	1
IDUA	3425	broad.mit.edu	37	4	994668	994668	+	Splice_Site_SNP	SNP	A	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:994668A>C	uc003gby.2	+	c.386_splice	c.e4-2	p.G129_splice	IDUA_uc003gbz.2_Splice_Site_SNP|IDUA_uc003gca.2_Splice_Site_SNP_p.G82_splice	NM_000203	NP_000194			alpha-L-iduronidase precursor						disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)									0.15873	19.428995	26.408465	10	53	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	994668	994668	7804	4	A	C	C	C	91	7	IDUA	5	4
TSSK1B	83942	broad.mit.edu	37	5	112769842	112769842	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:112769842C>A	uc003kqm.2	-	c.695G>T	c.(694-696)CGC>CTC	p.R232L	MCC_uc003kql.3_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1	232	Protein kinase.				cell differentiation|multicellular organismal development|protein phosphorylation|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.R232H(1)		ovary(2)|skin(1)	3		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)					p.R232H(RS411-Tumor)	32				0.434211	95.134792	95.42568	33	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112769842	112769842	17221	5	C	A	A	A	351	27	TSSK1B	1	1
AQPEP	206338	broad.mit.edu	37	5	115351451	115351451	+	Silent	SNP	T	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:115351451T>A	uc003kro.2	+	c.2745T>A	c.(2743-2745)GCT>GCA	p.A915A	AQPEP_uc003krp.2_Non-coding_Transcript|AQPEP_uc003krq.2_Non-coding_Transcript|AQPEP_uc003krr.2_Non-coding_Transcript|AQPEP_uc003krs.2_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	915	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0														0.4	41.844016	42.149743	14	21	KEEP	---	---	---	---	capture		Silent	SNP	115351451	115351451	845	5	T	A	A	A	704	55	AQPEP	3	3
CSNK1G3	1456	broad.mit.edu	37	5	122950054	122950054	+	Missense_Mutation	SNP	A	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:122950054A>C	uc003ktl.2	+	c.1332A>C	c.(1330-1332)AAA>AAC	p.K444N	CSNK1G3_uc003ktm.2_Missense_Mutation_p.K436N|CSNK1G3_uc003ktn.2_Missense_Mutation_p.K412N|CSNK1G3_uc003kto.2_Missense_Mutation_p.K404N|CSNK1G3_uc011cwr.1_Missense_Mutation_p.K337N|CSNK1G3_uc011cws.1_Missense_Mutation_p.K300N|CSNK1G3_uc010jda.2_Missense_Mutation_p.K413N	NM_001044723	NP_001038188	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3 isoform 4	436					protein phosphorylation|Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity				0		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		Pancreas(187;2868 2964 4353 6297)				172				0.350877	68.585818	69.702726	20	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122950054	122950054	4097	5	A	C	C	C	24	2	CSNK1G3	4	4
ADAMTS19	171019	broad.mit.edu	37	5	129019893	129019893	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:129019893C>A	uc003kvb.1	+	c.2727C>A	c.(2725-2727)AGC>AGA	p.S909R	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	909	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)	8		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)					p.S909R(CALU6-Tumor)	425				0.384615	149.98125	151.653656	55	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129019893	129019893	265	5	C	A	A	A	363	28	ADAMTS19	2	2
ADAMTS19	171019	broad.mit.edu	37	5	129040017	129040017	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:129040017C>T	uc003kvb.1	+	c.3227C>T	c.(3226-3228)CCC>CTC	p.P1076L	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1076	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)	8		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)						425				0.383838	220.382545	222.713965	76	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129040017	129040017	265	5	C	T	T	T	286	22	ADAMTS19	2	2
NME5	8382	broad.mit.edu	37	5	137454515	137454515	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:137454515C>A	uc003lce.2	-	c.547G>T	c.(547-549)GAT>TAT	p.D183Y	BRD8_uc003lcc.1_Intron	NM_003551	NP_003542	P56597	NDK5_HUMAN	non-metastatic cells 5, protein expressed in	183					anti-apoptosis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatid development|UTP biosynthetic process		ATP binding|nucleoside diphosphate kinase activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)											0.13253	12.360669	23.255401	11	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137454515	137454515	10897	5	C	A	A	A	416	32	NME5	2	2
PSD2	84249	broad.mit.edu	37	5	139216501	139216501	+	Silent	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:139216501G>T	uc003leu.1	+	c.1509G>T	c.(1507-1509)CTG>CTT	p.L503L		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	503					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.384615	246.48963	249.222158	90	144	KEEP	---	---	---	---	capture		Silent	SNP	139216501	139216501	13100	5	G	T	T	T	600	47	PSD2	2	2
PCDHA4	56144	broad.mit.edu	37	5	140187200	140187200	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140187200C>A	uc003lhi.2	+	c.428C>A	c.(427-429)GCG>GAG	p.A143E	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.A143E|PCDHA4_uc011daa.1_Missense_Mutation_p.A143E	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	143	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.165468	43.872173	58.605191	23	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140187200	140187200	11946	5	C	A	A	A	351	27	PCDHA4	1	1
PCDHB16	57717	broad.mit.edu	37	5	140562563	140562563	+	Silent	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140562563G>T	uc003liv.2	+	c.429G>T	c.(427-429)CCG>CCT	p.P143P	PCDHB16_uc010jfw.1_Intron	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	143	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.285714	41.975647	44.284009	16	40	KEEP	---	---	---	---	capture		Silent	SNP	140562563	140562563	11961	5	G	T	T	T	496	39	PCDHB16	1	1
PCDHB16	57717	broad.mit.edu	37	5	140563490	140563490	+	Silent	SNP	C	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140563490C>T	uc003liv.2	+	c.1356C>T	c.(1354-1356)ACC>ACT	p.T452T	PCDHB16_uc010jfw.1_Silent_p.T124T	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	452	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.308108	160.507924	166.578775	57	128	KEEP	---	---	---	---	capture		Silent	SNP	140563490	140563490	11961	5	C	T	T	T	275	22	PCDHB16	2	2
PCDHB16	57717	broad.mit.edu	37	5	140563649	140563649	+	Silent	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140563649C>A	uc003liv.2	+	c.1515C>A	c.(1513-1515)TCC>TCA	p.S505S	PCDHB16_uc010jfw.1_Silent_p.S177S	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	505	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.270833	30.250277	32.526569	13	35	KEEP	---	---	---	---	capture		Silent	SNP	140563649	140563649	11961	5	C	A	A	A	262	21	PCDHB16	2	2
ZNF300	91975	broad.mit.edu	37	5	150275752	150275752	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:150275752T>A	uc003lsy.1	-	c.1049A>T	c.(1048-1050)GAA>GTA	p.E350V	IRGM_uc011dcl.1_Intron	NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	zinc finger protein 300	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)											0.141026	13.586283	23.277722	11	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150275752	150275752	18423	5	T	A	A	A	806	62	ZNF300	3	3
FAT2	2196	broad.mit.edu	37	5	150921910	150921910	+	Silent	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:150921910C>A	uc003lue.3	-	c.8778G>T	c.(8776-8778)GCG>GCT	p.A2926A	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	2926	Extracellular (Potential).|Cadherin 26.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)	4		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)											0.118143	24.520075	58.502467	28	209	KEEP	---	---	---	---	capture		Silent	SNP	150921910	150921910	5926	5	C	A	A	A	392	31	FAT2	1	1
NMUR2	56923	broad.mit.edu	37	5	151771875	151771875	+	Silent	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:151771875G>T	uc003luv.2	-	c.1125C>A	c.(1123-1125)ACC>ACA	p.T375T		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	375	Cytoplasmic (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			ovary(2)	2		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)											0.368421	116.216032	117.952356	42	72	KEEP	---	---	---	---	capture		Silent	SNP	151771875	151771875	10910	5	G	T	T	T	496	39	NMUR2	1	1
NMUR2	56923	broad.mit.edu	37	5	151784290	151784290	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:151784290C>G	uc003luv.2	-	c.385G>C	c.(385-387)GTG>CTG	p.V129L		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	129	Helical; Name=3; (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			ovary(2)	2		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)											0.141026	44.959831	64.344478	22	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151784290	151784290	10910	5	C	G	G	G	247	19	NMUR2	3	3
KIF4B	285643	broad.mit.edu	37	5	154395531	154395531	+	Silent	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:154395531G>T	uc010jih.1	+	c.2112G>T	c.(2110-2112)ACG>ACT	p.T704T		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	704	Interaction with PRC1 (By similarity).|Potential.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)											0.426667	85.572875	85.927307	32	43	KEEP	---	---	---	---	capture		Silent	SNP	154395531	154395531	8615	5	G	T	T	T	496	39	KIF4B	1	1
CYFIP2	26999	broad.mit.edu	37	5	156747733	156747733	+	Missense_Mutation	SNP	T	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156747733T>G	uc003lwq.2	+	c.1594T>G	c.(1594-1596)TTG>GTG	p.L532V	CYFIP2_uc011ddn.1_Missense_Mutation_p.L506V|CYFIP2_uc011ddo.1_Missense_Mutation_p.L336V|CYFIP2_uc003lwr.2_Missense_Mutation_p.L532V|CYFIP2_uc003lws.2_Missense_Mutation_p.L532V|CYFIP2_uc003lwt.2_Missense_Mutation_p.L410V|CYFIP2_uc011ddp.1_Missense_Mutation_p.L266V	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	532					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.292683	35.683908	37.261548	12	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156747733	156747733	4303	5	T	G	G	G	725	56	CYFIP2	4	4
C1QTNF2	114898	broad.mit.edu	37	5	159781811	159781811	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:159781811C>G	uc003lyd.2	-	c.343G>C	c.(343-345)GGA>CGA	p.G115R		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	70	Collagen-like.					collagen					0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											0.307692	23.588998	24.446889	8	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159781811	159781811	2030	5	C	G	G	G	273	21	C1QTNF2	3	3
GABRA1	2554	broad.mit.edu	37	5	161302634	161302634	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:161302634T>A	uc010jiw.2	+	c.545T>A	c.(544-546)CTA>CAA	p.L182Q	GABRA1_uc010jix.2_Missense_Mutation_p.L182Q|GABRA1_uc010jiy.2_Missense_Mutation_p.L182Q|GABRA1_uc003lyx.3_Missense_Mutation_p.L182Q|GABRA1_uc010jiz.2_Missense_Mutation_p.L182Q|GABRA1_uc010jja.2_Missense_Mutation_p.L182Q|GABRA1_uc010jjb.2_Missense_Mutation_p.L182Q	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	182	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|pancreas(1)	3	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)									0.162162	28.265263	40.35174	18	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161302634	161302634	6411	5	T	A	A	A	689	53	GABRA1	3	3
GABRG2	2566	broad.mit.edu	37	5	161576210	161576210	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:161576210C>A	uc010jjc.2	+	c.1139C>A	c.(1138-1140)TCT>TAT	p.S380Y	GABRG2_uc003lyy.3_Missense_Mutation_p.S340Y|GABRG2_uc003lyz.3_Missense_Mutation_p.S340Y|GABRG2_uc011dej.1_Missense_Mutation_p.S245Y	NM_198903	NP_944493	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	340	Helical; (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)	4	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)										0.280488	51.980835	55.539435	23	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161576210	161576210	6423	5	C	A	A	A	416	32	GABRG2	2	2
ODZ2	57451	broad.mit.edu	37	5	167489128	167489128	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:167489128C>G	uc010jjd.2	+	c.1373C>G	c.(1372-1374)ACA>AGA	p.T458R	ODZ2_uc003lzq.2_Missense_Mutation_p.T337R|ODZ2_uc003lzr.3_Missense_Mutation_p.T226R	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)										0.416667	34.147827	34.292817	10	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167489128	167489128	11240	5	C	G	G	G	221	17	ODZ2	3	3
DOCK2	1794	broad.mit.edu	37	5	169469116	169469116	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:169469116G>A	uc003maf.2	+	c.3856G>A	c.(3856-3858)GGC>AGC	p.G1286S	DOCK2_uc011der.1_Non-coding_Transcript|DOCK2_uc010jjm.2_Missense_Mutation_p.G778S	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1286	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											0.407407	34.519803	34.722145	11	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169469116	169469116	4871	5	G	A	A	A	455	35	DOCK2	2	2
RANBP17	64901	broad.mit.edu	37	5	170305133	170305133	+	Silent	SNP	T	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:170305133T>C	uc003mba.2	+	c.51T>C	c.(49-51)CAT>CAC	p.H17H	RANBP17_uc003max.1_Non-coding_Transcript|RANBP17_uc003may.1_Non-coding_Transcript|RANBP17_uc003maz.1_Non-coding_Transcript|RANBP17_uc010jjr.1_Non-coding_Transcript|RANBP17_uc003maw.2_Silent_p.H17H|RANBP17_uc011dew.1_Silent_p.H17H	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	17					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)							661				0.214286	25.858784	29.019192	9	33	KEEP	---	---	---	---	capture		Silent	SNP	170305133	170305133	13487	5	T	C	C	C	647	50	RANBP17	4	4
GPRIN1	114787	broad.mit.edu	37	5	176026654	176026654	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:176026654G>T	uc003meo.1	-	c.182C>A	c.(181-183)CCT>CAT	p.P61H		NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	G protein-regulated inducer of neurite outgrowth	61						growth cone|plasma membrane				ovary(2)	2	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.127168	22.719997	46.202143	22	151	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176026654	176026654	7005	5	G	T	T	T	455	35	GPRIN1	2	2
DBN1	1627	broad.mit.edu	37	5	176885479	176885479	+	Silent	SNP	G	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:176885479G>A	uc003mgx.2	-	c.1362C>T	c.(1360-1362)ACC>ACT	p.T454T	DBN1_uc011dga.1_Silent_p.T184T|DBN1_uc003mgy.2_Silent_p.T452T|DBN1_uc010jkn.1_Silent_p.T402T|DBN1_uc003mgz.1_Silent_p.T435T	NM_080881	NP_543157	Q16643	DREB_HUMAN	drebrin 1 isoform b	452					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)	3	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)							168				0.322034	101.998692	105.323327	38	80	KEEP	---	---	---	---	capture		Silent	SNP	176885479	176885479	4423	5	G	A	A	A	600	47	DBN1	2	2
ZNF354C	30832	broad.mit.edu	37	5	178506304	178506304	+	Silent	SNP	C	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:178506304C>T	uc003mju.2	+	c.871C>T	c.(871-873)CTG>TTG	p.L291L		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	291	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)										0.222222	87.053306	99.197165	38	133	KEEP	---	---	---	---	capture		Silent	SNP	178506304	178506304	18458	5	C	T	T	T	415	32	ZNF354C	2	2
TRIM41	90933	broad.mit.edu	37	5	180659677	180659677	+	Silent	SNP	C	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:180659677C>T	uc003mne.1	+	c.928C>T	c.(928-930)CTG>TTG	p.L310L	TRIM41_uc003mnc.1_3'UTR|TRIM41_uc003mnd.1_Silent_p.L310L|TRIM41_uc003mnf.1_Non-coding_Transcript|TRIM41_uc010jlq.1_Silent_p.L20L|TRIM41_uc003mng.1_5'Flank	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	tripartite motif-containing 41 isoform 1	310	Potential.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding				0	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.411765	38.239947	38.472052	14	20	KEEP	---	---	---	---	capture		Silent	SNP	180659677	180659677	17060	5	C	T	T	T	363	28	TRIM41	2	2
PRDM9	56979	broad.mit.edu	37	5	23521214	23521214	+	Nonsense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:23521214C>A	uc003jgo.2	+	c.434C>A	c.(433-435)TCA>TAA	p.S145*		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	145					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6														0.24	38.608259	43.240319	18	57	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	23521214	23521214	12906	5	C	A	A	A	377	29	PRDM9	5	2
UGT3A1	133688	broad.mit.edu	37	5	35954378	35954378	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:35954378T>C	uc003jjv.1	-	c.1498A>G	c.(1498-1500)ATG>GTG	p.M500V	UGT3A1_uc003jjw.1_Non-coding_Transcript	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	500	Helical; (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|central_nervous_system(1)	3	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)											0.184211	19.106736	22.657596	7	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35954378	35954378	17521	5	T	C	C	C	637	49	UGT3A1	4	4
CCL28	56477	broad.mit.edu	37	5	43382065	43382065	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:43382065C>A	uc003jnu.2	-	c.281G>T	c.(280-282)GGT>GTT	p.G94V	CCL28_uc003jns.2_Non-coding_Transcript|CCL28_uc003jnt.2_Non-coding_Transcript|CCL28_uc010ivn.2_Missense_Mutation_p.G47V	NM_148672	NP_683513	Q9NRJ3	CCL28_HUMAN	chemokine (C-C motif) ligand 28 precursor	94					chemotaxis|immune response	extracellular space	chemokine activity			ovary(1)|kidney(1)	2						Esophageal Squamous(178;1549 1997 2043 22794 27051)								0.208333	78.936685	94.045825	40	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43382065	43382065	3025	5	C	A	A	A	234	18	CCL28	2	2
ADAMTS6	11174	broad.mit.edu	37	5	64447678	64447678	+	Silent	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:64447678G>T	uc003jtp.2	-	c.3339C>A	c.(3337-3339)ACC>ACA	p.T1113T	ADAMTS6_uc003jto.2_Non-coding_Transcript|ADAMTS6_uc003jtq.2_Non-coding_Transcript	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1113	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)										0.151515	22.453364	33.976221	15	84	KEEP	---	---	---	---	capture		Silent	SNP	64447678	64447678	271	5	G	T	T	T	444	35	ADAMTS6	2	2
BDP1	55814	broad.mit.edu	37	5	70808256	70808256	+	Splice_Site_SNP	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:70808256G>T	uc003kbp.1	+	c.4247_splice	c.e18+1	p.S1416_splice	BDP1_uc003kbo.2_Splice_Site_SNP_p.S1416_splice	NM_018429	NP_060899			transcription factor-like nuclear regulator						regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding				0		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)										0.25	42.066969	45.704371	16	48	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	70808256	70808256	1417	5	G	T	T	T	572	44	BDP1	5	2
ADCY2	108	broad.mit.edu	37	5	7695931	7695931	+	Silent	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:7695931C>A	uc003jdz.1	+	c.936C>A	c.(934-936)GTC>GTA	p.V312V	ADCY2_uc011cmo.1_Silent_p.V132V	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	312	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)	6														0.206349	24.337193	29.377801	13	50	KEEP	---	---	---	---	capture		Silent	SNP	7695931	7695931	295	5	C	A	A	A	379	30	ADCY2	2	2
VCAN	1462	broad.mit.edu	37	5	82833774	82833774	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:82833774C>A	uc003kii.3	+	c.4952C>A	c.(4951-4953)ACA>AAA	p.T1651K	VCAN_uc003kij.3_Missense_Mutation_p.T664K|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.T315K	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1651	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(3)|lung(2)|central_nervous_system(1)	13		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)										0.432836	87.66447	87.927992	29	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82833774	82833774	17703	5	C	A	A	A	221	17	VCAN	2	2
POU5F2	134187	broad.mit.edu	37	5	93076803	93076803	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:93076803C>A	uc003kkl.1	-	c.467G>T	c.(466-468)GGG>GTG	p.G156V	FAM172A_uc010jbd.2_Intron|FAM172A_uc011cuf.1_Intron|FAM172A_uc011cug.1_Intron|FAM172A_uc011cuh.1_Intron|FAM172A_uc011cui.1_Intron|FAM172A_uc011cuj.1_Intron	NM_153216	NP_694948	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	156	POU-specific.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)										0.181818	12.970158	17.159965	8	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93076803	93076803	12713	5	C	A	A	A	286	22	POU5F2	2	2
FAM172A	83989	broad.mit.edu	37	5	93217245	93217245	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:93217245C>A	uc010jbd.2	-	c.717G>T	c.(715-717)AAG>AAT	p.K239N	FAM172A_uc011cuf.1_Missense_Mutation_p.K193N|FAM172A_uc011cug.1_Missense_Mutation_p.K129N|FAM172A_uc011cuh.1_Missense_Mutation_p.K92N|FAM172A_uc011cui.1_Non-coding_Transcript|FAM172A_uc011cuj.1_Intron|FAM172A_uc003kkm.3_Missense_Mutation_p.K239N	NM_032042	NP_114431	Q8WUF8	F172A_HUMAN	hypothetical protein LOC83989 isoform 1	239						endoplasmic reticulum|extracellular region					0														0.341772	71.493162	73.244551	27	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93217245	93217245	5698	5	C	A	A	A	363	28	FAM172A	2	2
GPR150	285601	broad.mit.edu	37	5	94956174	94956174	+	Silent	SNP	C	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:94956174C>T	uc003kle.1	+	c.195C>T	c.(193-195)TGC>TGT	p.C65C		NM_199243	NP_954713	Q8NGU9	GP150_HUMAN	G protein-coupled receptor 150	65	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)		all cancers(79;1.82e-16)										0.444444	19.989427	20.038891	8	10	KEEP	---	---	---	---	capture		Silent	SNP	94956174	94956174	6931	5	C	T	T	T	337	26	GPR150	2	2
DDO	8528	broad.mit.edu	37	6	110714065	110714065	+	Silent	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:110714065C>A	uc003puc.2	-	c.1023G>T	c.(1021-1023)GTG>GTT	p.V341V	C6orf186_uc003pub.2_Intron|DDO_uc003pud.2_Silent_p.V282V	NM_003649	NP_003640	Q99489	OXDD_HUMAN	D-aspartate oxidase isoform a	313					aspartate catabolic process|oxidation-reduction process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			ovary(2)|breast(1)	3		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)										0.393443	65.981917	66.589704	24	37	KEEP	---	---	---	---	capture		Silent	SNP	110714065	110714065	4505	6	C	A	A	A	314	25	DDO	2	2
C6orf170	221322	broad.mit.edu	37	6	121401997	121401997	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:121401997C>G	uc003pyo.1	-	c.3694G>C	c.(3694-3696)GAA>CAA	p.E1232Q		NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322	1232	Rab-GAP TBC.				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)										0.5	157.899538	157.899538	44	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121401997	121401997	2449	6	C	G	G	G	377	29	C6orf170	3	3
TAAR5	9038	broad.mit.edu	37	6	132909856	132909856	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:132909856C>G	uc003qdk.2	-	c.970G>C	c.(970-972)GTC>CTC	p.V324L		NM_003967	NP_003958	O14804	TAAR5_HUMAN	trace amine associated receptor 5	324	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity				0	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)										0.421053	109.897715	110.305907	32	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132909856	132909856	16012	6	C	G	G	G	234	18	TAAR5	3	3
ACAT2	39	broad.mit.edu	37	6	160199279	160199279	+	Silent	SNP	A	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:160199279A>G	uc011efw.1	+	c.1077A>G	c.(1075-1077)GCA>GCG	p.A359A	ACAT2_uc010kjy.2_Silent_p.A330A	NM_005891	NP_005882	Q9BWD1	THIC_HUMAN	acetyl-Coenzyme A acetyltransferase 2	330					lipid metabolic process	mitochondrion|nucleolus	acetyl-CoA C-acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)										0.47541	97.652779	97.685717	29	32	KEEP	---	---	---	---	capture		Silent	SNP	160199279	160199279	123	6	A	G	G	G	54	5	ACAT2	4	4
LPA	4018	broad.mit.edu	37	6	161016486	161016486	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:161016486C>A	uc003qtl.2	-	c.3369G>T	c.(3367-3369)TGG>TGT	p.W1123C		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3631	Kringle 32.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|pancreas(1)	4		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)									0.381443	89.340443	90.538769	37	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161016486	161016486	9276	6	C	A	A	A	286	22	LPA	2	2
VARS	7407	broad.mit.edu	37	6	31747922	31747922	+	Silent	SNP	G	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31747922G>A	uc003nxe.2	-	c.2934C>T	c.(2932-2934)GGC>GGT	p.G978G	C6orf27_uc011dog.1_5'Flank|C6orf27_uc003nxd.2_5'Flank|C6orf27_uc011doh.1_5'Flank|VARS_uc003nxf.1_5'UTR	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	978					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			ovary(1)	1					L-Valine(DB00161)									0.579545	132.321085	132.814193	51	37	KEEP	---	---	---	---	capture		Silent	SNP	31747922	31747922	17688	6	G	A	A	A	535	42	VARS	2	2
KLHL31	401265	broad.mit.edu	37	6	53516934	53516934	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:53516934C>A	uc003pcb.3	-	c.1367G>T	c.(1366-1368)CGC>CTC	p.R456L		NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	kelch repeat and BTB (POZ) domain containing 1	456	Kelch 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					ovary(1)	1	Lung NSC(77;0.0158)													0.733333	28.585496	29.307997	11	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53516934	53516934	8698	6	C	A	A	A	351	27	KLHL31	1	1
ZAN	7455	broad.mit.edu	37	7	100349490	100349490	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100349490A>G	uc003uwj.2	+	c.1762A>G	c.(1762-1764)AAA>GAA	p.K588E	ZAN_uc003uwk.2_Missense_Mutation_p.K588E|ZAN_uc003uwl.2_Non-coding_Transcript|ZAN_uc010lhh.2_Non-coding_Transcript|ZAN_uc010lhi.2_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	588	66 X heptapeptide repeats (approximate) (mucin-like domain).|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)											0.195122	52.932326	63.594315	24	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100349490	100349490	18096	7	A	G	G	G	65	5	ZAN	4	4
PLOD3	8985	broad.mit.edu	37	7	100853847	100853847	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100853847G>A	uc003uyd.2	-	c.1466C>T	c.(1465-1467)CCG>CTG	p.P489L	PLOD3_uc010lhs.2_Missense_Mutation_p.P54L	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	489					oxidation-reduction process|protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)									0.105263	7.28048	21.997987	10	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100853847	100853847	12529	7	G	A	A	A	507	39	PLOD3	1	1
PPP1R3A	5506	broad.mit.edu	37	7	113558901	113558901	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:113558901C>A	uc010ljy.1	-	c.151G>T	c.(151-153)GAC>TAC	p.D51Y		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	51					glycogen metabolic process	integral to membrane				ovary(9)|pancreas(7)|skin(2)|breast(2)|lung(1)	21										235				0.095745	4.292685	35.140962	18	170	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113558901	113558901	12806	7	C	A	A	A	416	32	PPP1R3A	2	2
THSD7A	221981	broad.mit.edu	37	7	11501699	11501699	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:11501699A>T	uc003ssf.3	-	c.2440T>A	c.(2440-2442)TGC>AGC	p.C814S		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	814	TSP type-1 8.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)										0.197183	52.407116	64.556445	28	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11501699	11501699	16407	7	A	T	T	T	91	7	THSD7A	3	3
ASB15	142685	broad.mit.edu	37	7	123269175	123269175	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:123269175C>A	uc003vku.1	+	c.1127C>A	c.(1126-1128)CCA>CAA	p.P376Q	ASB15_uc003vkw.1_Missense_Mutation_p.P376Q	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box-containing 15	376	ANK 7.				intracellular signal transduction					lung(1)	1														0.101266	6.764416	31.873913	16	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123269175	123269175	1037	7	C	A	A	A	273	21	ASB15	2	2
MGAM	8972	broad.mit.edu	37	7	141762468	141762468	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:141762468C>A	uc003vwy.2	+	c.4223C>A	c.(4222-4224)CCA>CAA	p.P1408Q		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	1408	Glucoamylase.|Lumenal (Potential).				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)									0.648936	184.589727	186.42503	61	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141762468	141762468	9931	7	C	A	A	A	273	21	MGAM	2	2
CASP2	835	broad.mit.edu	37	7	142985564	142985564	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142985564G>T	uc003wco.2	+	c.16G>T	c.(16-18)GCG>TCG	p.A6S	CASP2_uc003wcp.2_Missense_Mutation_p.A6S|CASP2_uc011kta.1_5'UTR|CASP2_uc003wcq.2_5'Flank	NM_032982	NP_116764	P42575	CASP2_HUMAN	caspase 2 isoform 1 preproprotein	6					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding				0	Melanoma(164;0.059)									155				0.627451	96.990726	97.71522	32	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142985564	142985564	2790	7	G	T	T	T	494	38	CASP2	1	1
HDAC9	9734	broad.mit.edu	37	7	18869106	18869106	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:18869106G>T	uc003sui.2	+	c.2401G>T	c.(2401-2403)GTT>TTT	p.V801F	HDAC9_uc003sue.2_Missense_Mutation_p.V798F|HDAC9_uc011jyd.1_Missense_Mutation_p.V798F|HDAC9_uc003suh.2_Missense_Mutation_p.V798F|HDAC9_uc003suj.2_Missense_Mutation_p.V757F|HDAC9_uc003suk.2_Missense_Mutation_p.V46F	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 5	798	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|specific transcriptional repressor activity|transcription corepressor activity|transcription repressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)									0.328767	65.870582	67.770571	24	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18869106	18869106	7297	7	G	T	T	T	468	36	HDAC9	2	2
MACC1	346389	broad.mit.edu	37	7	20198853	20198853	+	Silent	SNP	G	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:20198853G>A	uc003sus.3	-	c.1131C>T	c.(1129-1131)CCC>CCT	p.P377P	MACC1_uc010kug.2_Silent_p.P377P	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	putative binding protein 7a5	377					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			ovary(2)	2														0.444444	47.995083	48.091881	16	20	KEEP	---	---	---	---	capture		Silent	SNP	20198853	20198853	9520	7	G	A	A	A	600	47	MACC1	2	2
KBTBD2	25948	broad.mit.edu	37	7	32910171	32910171	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:32910171T>C	uc003tdb.2	-	c.658A>G	c.(658-660)ATC>GTC	p.I220V	AVL9_uc011kai.1_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	220											0			GBM - Glioblastoma multiforme(11;0.0499)											0.197183	37.111989	43.173181	14	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32910171	32910171	8298	7	T	C	C	C	676	52	KBTBD2	4	4
NPSR1	387129	broad.mit.edu	37	7	34818138	34818138	+	Silent	SNP	G	T	T	rs324982	byFrequency;by1000genomes	TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:34818138G>T	uc003teh.1	+	c.345G>T	c.(343-345)ACG>ACT	p.T115T	AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.T115T|NPSR1_uc010kwt.1_Intron|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Intron|NPSR1_uc003tei.1_Silent_p.T115T|NPSR1_uc010kww.1_Silent_p.T104T|NPSR1_uc011kar.1_Intron|AAA1_uc010kwy.2_Intron|AAA1_uc003tek.3_Intron	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	G protein-coupled receptor for asthma	115	Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			pancreas(1)|skin(1)	2					Halothane(DB01159)									0.391304	50.840574	51.316081	18	28	KEEP	---	---	---	---	capture		Silent	SNP	34818138	34818138	11005	7	G	T	T	T	496	39	NPSR1	1	1
ABCA13	154664	broad.mit.edu	37	7	48311611	48311611	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:48311611G>C	uc003toq.2	+	c.2348G>C	c.(2347-2349)AGA>ACA	p.R783T	ABCA13_uc010kyr.2_Missense_Mutation_p.R286T	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	783					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10														0.413793	40.694965	40.883195	12	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48311611	48311611	32	7	G	C	C	C	429	33	ABCA13	3	3
PAPOLB	56903	broad.mit.edu	37	7	4900849	4900849	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:4900849C>A	uc003snk.2	-	c.593G>T	c.(592-594)TGC>TTC	p.C198F	RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	197					mRNA processing|RNA polyadenylation	nucleus	ATP binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)										0.319444	59.993575	62.082609	23	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4900849	4900849	11847	7	C	A	A	A	325	25	PAPOLB	2	2
COBL	23242	broad.mit.edu	37	7	51258590	51258590	+	Silent	SNP	G	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:51258590G>A	uc003tps.2	-	c.642C>T	c.(640-642)AAC>AAT	p.N214N	COBL_uc003tpr.3_Silent_p.N214N|COBL_uc011kcl.1_Silent_p.N214N|COBL_uc010kzc.2_Silent_p.N214N|COBL_uc003tpt.2_Silent_p.N214N|COBL_uc003tpp.3_De_novo_Start_OutOfFrame|COBL_uc003tpq.3_Silent_p.N130N	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	214										ovary(2)|skin(1)	3	Glioma(55;0.08)					NSCLC(189;2119 2138 12223 30818 34679)								0.235294	17.782394	19.961815	8	26	KEEP	---	---	---	---	capture		Silent	SNP	51258590	51258590	3791	7	G	A	A	A	516	40	COBL	1	1
LAT2	7462	broad.mit.edu	37	7	73636006	73636006	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:73636006C>G	uc003uag.2	+	c.372C>G	c.(370-372)TTC>TTG	p.F124L	RFC2_uc011kfa.1_Intron|LAT2_uc003uah.2_Missense_Mutation_p.F124L|LAT2_uc003uai.2_Missense_Mutation_p.F124L|LAT2_uc010lbo.2_Intron	NM_032464	NP_115853	Q9GZY6	NTAL_HUMAN	linker for activation of T cells family member	124	Cytoplasmic (Potential).				B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|membrane raft|plasma membrane	SH2 domain binding				0														0.128959	92.556443	151.839916	57	385	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73636006	73636006	8968	7	C	G	G	G	415	32	LAT2	3	3
CDK6	1021	broad.mit.edu	37	7	92404042	92404042	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:92404042G>T	uc011khw.1	-	c.337C>A	c.(337-339)CCA>ACA	p.P113T	CDK6_uc010lez.2_Missense_Mutation_p.P113T	NM_001259	NP_001250	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	113	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|protein phosphorylation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|skin(1)	2	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)							86				0.105263	9.654948	39.105534	20	170	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92404042	92404042	3277	7	G	T	T	T	533	41	CDK6	2	2
GPC2	221914	broad.mit.edu	37	7	99771579	99771579	+	Silent	SNP	G	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:99771579G>A	uc003utv.2	-	c.771C>T	c.(769-771)CTC>CTT	p.L257L	GPC2_uc010lgr.2_Intron|GPC2_uc003utw.1_3'UTR	NM_152742	NP_689955	Q8N158	GPC2_HUMAN	glypican 2 precursor	257						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|pancreas(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)													0.179487	58.382408	77.263443	35	160	KEEP	---	---	---	---	capture		Silent	SNP	99771579	99771579	6872	7	G	A	A	A	574	45	GPC2	2	2
RP1L1	94137	broad.mit.edu	37	8	10480543	10480543	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10480543C>T	uc003wtc.2	-	c.169G>A	c.(169-171)GCC>ACC	p.A57T		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	57					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)										0.315789	56.96016	59.26136	24	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10480543	10480543	14012	8	C	T	T	T	351	27	RP1L1	1	1
RIMS2	9699	broad.mit.edu	37	8	105001603	105001603	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:105001603G>T	uc003yls.2	+	c.2332G>T	c.(2332-2334)GAC>TAC	p.D778Y	RIMS2_uc003ylp.2_Missense_Mutation_p.D1000Y|RIMS2_uc003ylw.2_Missense_Mutation_p.D792Y|RIMS2_uc003ylq.2_Missense_Mutation_p.D792Y|RIMS2_uc003ylr.2_Missense_Mutation_p.D839Y	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1062					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|zinc ion binding			ovary(6)|lung(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)							728				0.111888	10.287536	31.588334	16	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105001603	105001603	13845	8	G	T	T	T	533	41	RIMS2	2	2
ABRA	137735	broad.mit.edu	37	8	107773614	107773614	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:107773614C>G	uc003ymm.3	-	c.797G>C	c.(796-798)AGT>ACT	p.S266T		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	266	Interaction with actin (By similarity).				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)											0.159091	31.292242	41.037076	14	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107773614	107773614	101	8	C	G	G	G	260	20	ABRA	3	3
WISP1	8840	broad.mit.edu	37	8	134239843	134239843	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:134239843C>A	uc003yub.2	+	c.994C>A	c.(994-996)CGC>AGC	p.R332S	WISP1_uc003yuc.2_Missense_Mutation_p.R245S|WISP1_uc010meb.2_Missense_Mutation_p.R160S|WISP1_uc010mec.2_3'UTR|WISP1_uc010med.2_Missense_Mutation_p.R87S|WISP1_uc003yud.2_Non-coding_Transcript	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	332	CTCK.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|kidney(1)	2	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)											0.35514	104.240946	106.209864	38	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134239843	134239843	17946	8	C	A	A	A	299	23	WISP1	1	1
KHDRBS3	10656	broad.mit.edu	37	8	136594267	136594267	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:136594267G>A	uc003yuv.2	+	c.758G>A	c.(757-759)GGG>GAG	p.G253E	KHDRBS3_uc003yuw.2_Missense_Mutation_p.G253E|KHDRBS3_uc010mek.2_Non-coding_Transcript	NM_006558	NP_006549	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal	253	Pro-rich.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			ovary(2)	2	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)											0.313725	39.570918	41.152021	16	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136594267	136594267	8454	8	G	A	A	A	559	43	KHDRBS3	2	2
EIF2C2	27161	broad.mit.edu	37	8	141542158	141542158	+	Silent	SNP	G	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:141542158G>A	uc003yvn.2	-	c.2565C>T	c.(2563-2565)ACC>ACT	p.T855T	EIF2C2_uc010men.2_Silent_p.T778T|EIF2C2_uc010meo.2_Silent_p.T821T	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	855					mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-microRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)											0.19883	63.637012	78.090004	34	137	KEEP	---	---	---	---	capture		Silent	SNP	141542158	141542158	5195	8	G	A	A	A	600	47	EIF2C2	2	2
PLEC	5339	broad.mit.edu	37	8	145012371	145012371	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:145012371C>T	uc003zaf.1	-	c.623G>A	c.(622-624)CGC>CAC	p.R208H	PLEC_uc003zab.1_Missense_Mutation_p.R71H|PLEC_uc003zac.1_Missense_Mutation_p.R75H|PLEC_uc003zad.2_Missense_Mutation_p.R71H|PLEC_uc003zae.1_Missense_Mutation_p.R39H|PLEC_uc003zag.1_Missense_Mutation_p.R49H|PLEC_uc003zah.2_Missense_Mutation_p.R57H|PLEC_uc003zaj.2_Missense_Mutation_p.R98H	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	208	CH 1.|Globular 1.|Actin-binding.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|central_nervous_system(1)	7														0.368421	18.245152	18.523955	7	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145012371	145012371	12478	8	C	T	T	T	351	27	PLEC	1	1
DGAT1	8694	broad.mit.edu	37	8	145541627	145541627	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:145541627G>T	uc003zbv.3	-	c.805C>A	c.(805-807)CGC>AGC	p.R269S	DGAT1_uc010mfv.2_Intron	NM_012079	NP_036211	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	269	Lumenal (Potential).				triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)											0.258065	39.78552	43.065077	16	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145541627	145541627	4636	8	G	T	T	T	507	39	DGAT1	1	1
DOK2	9046	broad.mit.edu	37	8	21769797	21769797	+	Silent	SNP	C	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:21769797C>T	uc003wzx.1	-	c.288G>A	c.(286-288)GCG>GCA	p.A96A	DOK2_uc003wzy.1_Silent_p.A96A|DOK2_uc003wzz.1_5'UTR|DOK2_uc010lth.1_Intron	NM_003974	NP_003965	O60496	DOK2_HUMAN	docking protein 2	96	PH.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding				0				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)										0.375	8.923156	9.032846	3	5	KEEP	---	---	---	---	capture		Silent	SNP	21769797	21769797	4881	8	C	T	T	T	288	23	DOK2	1	1
ZNF395	55893	broad.mit.edu	37	8	28206278	28206278	+	Silent	SNP	C	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:28206278C>G	uc003xgq.2	-	c.1500G>C	c.(1498-1500)ACG>ACC	p.T500T	ZNF395_uc003xgt.2_Silent_p.T500T|ZNF395_uc003xgr.2_Silent_p.T500T|ZNF395_uc003xgs.2_Silent_p.T500T	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	500					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)										0.181818	20.818037	26.048689	10	45	KEEP	---	---	---	---	capture		Silent	SNP	28206278	28206278	18474	8	C	G	G	G	288	23	ZNF395	3	3
DDHD2	23259	broad.mit.edu	37	8	38099825	38099825	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:38099825A>G	uc003xlb.2	+	c.770A>G	c.(769-771)CAA>CGA	p.Q257R	DDHD2_uc003xlc.2_Missense_Mutation_p.Q257R|DDHD2_uc011lbl.1_Missense_Mutation_p.Q69R	NM_015214	NP_056029	O94830	DDHD2_HUMAN	DDHD domain containing 2 isoform 1	257					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			large_intestine(1)|ovary(1)	2	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)											0.151515	21.611539	29.282554	10	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38099825	38099825	4498	8	A	G	G	G	65	5	DDHD2	4	4
ST18	9705	broad.mit.edu	37	8	53038615	53038615	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:53038615C>A	uc003xqz.2	-	c.2752G>T	c.(2752-2754)GGG>TGG	p.G918W	ST18_uc011ldq.1_Missense_Mutation_p.G565W|ST18_uc011ldr.1_Missense_Mutation_p.G883W|ST18_uc011lds.1_Missense_Mutation_p.G823W|ST18_uc003xra.2_Missense_Mutation_p.G918W	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	918						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)												0.375	110.612327	112.152155	42	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53038615	53038615	15730	8	C	A	A	A	273	21	ST18	2	2
ERICH1	157697	broad.mit.edu	37	8	618725	618725	+	Silent	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:618725C>A	uc003wph.2	-	c.1131G>T	c.(1129-1131)GCG>GCT	p.A377A	ERICH1_uc011kwh.1_Silent_p.A377A|ERICH1_uc003wpe.1_Silent_p.A283A|ERICH1_uc003wpi.2_Silent_p.A189A	NM_207332	NP_997215	Q86X53	ERIC1_HUMAN	glutamate-rich 1	377										large_intestine(2)	2		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)										0.361111	73.753913	74.966148	26	46	KEEP	---	---	---	---	capture		Silent	SNP	618725	618725	5423	8	C	A	A	A	236	19	ERICH1	1	1
EYA1	2138	broad.mit.edu	37	8	72182002	72182002	+	Silent	SNP	A	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:72182002A>C	uc003xys.3	-	c.1023T>G	c.(1021-1023)ACT>ACG	p.T341T	EYA1_uc003xyr.3_Silent_p.T336T|EYA1_uc003xyt.3_Silent_p.T308T|EYA1_uc010lzf.2_Silent_p.T268T|EYA1_uc003xyu.2_Silent_p.T341T|EYA1_uc011lfe.1_Silent_p.T335T|EYA1_uc003xyv.2_Silent_p.T219T	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	341					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)											0.355932	64.858229	65.936809	21	38	KEEP	---	---	---	---	capture		Silent	SNP	72182002	72182002	5522	8	A	C	C	C	80	7	EYA1	4	4
GDF6	392255	broad.mit.edu	37	8	97156985	97156985	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:97156985G>C	uc003yhp.2	-	c.1174C>G	c.(1174-1176)CGC>GGC	p.R392G		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	392					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)													0.5	72.654421	72.654421	22	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97156985	97156985	6585	8	G	C	C	C	494	38	GDF6	3	3
GRIN3A	116443	broad.mit.edu	37	9	104433015	104433015	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:104433015C>A	uc004bbp.1	-	c.1679G>T	c.(1678-1680)AGC>ATC	p.S560I	GRIN3A_uc004bbq.1_Missense_Mutation_p.S560I	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	560	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|central_nervous_system(1)|pancreas(1)	6		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)					27				0.532258	96.871692	96.927285	33	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104433015	104433015	7062	9	C	A	A	A	364	28	GRIN3A	2	2
CYLC2	1539	broad.mit.edu	37	9	105767378	105767379	+	Missense_Mutation	DNP	AG	TT	TT			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:105767378_105767379AG>TT	uc004bbs.2	+	c.465_466AG>TT	c.(463-468)CTAGAT>CTTTAT	p.D156Y		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	cylicin 2	156	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			skin(1)	1		all_hematologic(171;0.125)												0.689655	66.409779	67.338953	20	9	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	105767378	105767379	4307	9	AG	TT	TT	TT	184	15	CYLC2	3	3
DOLK	22845	broad.mit.edu	37	9	131708450	131708450	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:131708450T>C	uc004bwr.2	-	c.1133A>G	c.(1132-1134)TAC>TGC	p.Y378C	NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	NM_014908	NP_055723	Q9UPQ8	DOLK_HUMAN	dolichol kinase	378	Helical; (Potential).				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity				0														0.582278	312.178065	313.109316	92	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131708450	131708450	4887	9	T	C	C	C	741	57	DOLK	4	4
GFI1B	8328	broad.mit.edu	37	9	135865147	135865148	+	Missense_Mutation	DNP	CG	TT	TT			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:135865147_135865148CG>TT	uc004ccg.2	+	c.667_668CG>TT	c.(667-669)CGC>TTC	p.R223F	GFI1B_uc010mzy.2_Missense_Mutation_p.R177F	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription	223	Mediates interaction with GATA1.|C2H2-type 3.|Interaction with ARIH2.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription, DNA-dependent	nucleus	DNA binding|protein binding|specific RNA polymerase II transcription factor activity|zinc ion binding			large_intestine(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)										0.551724	51.802052	51.869508	16	13	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	135865147	135865148	6608	9	CG	TT	TT	TT	299	23	GFI1B	1	1
FANCG	2189	broad.mit.edu	37	9	35075050	35075050	+	Nonsense_Mutation	SNP	T	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35075050T>A	uc003zwb.1	-	c.1510A>T	c.(1510-1512)AAG>TAG	p.K504*	VCP_uc003zvy.2_5'Flank|VCP_uc003zvz.2_5'Flank|VCP_uc010mkh.1_5'Flank|FANCG_uc003zwa.1_Nonsense_Mutation_p.K246*|FANCG_uc010mkj.1_Nonsense_Mutation_p.K246*	NM_004629	NP_004620	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	504					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|large_intestine(1)	3			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)							126				0.315217	71.131541	73.932731	29	63	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	35075050	35075050	5904	9	T	A	A	A	793	61	FANCG	5	3
FRMPD1	22844	broad.mit.edu	37	9	37746564	37746564	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:37746564G>T	uc004aag.1	+	c.4535G>T	c.(4534-4536)CGC>CTC	p.R1512L	FRMPD1_uc004aah.1_Missense_Mutation_p.R1512L	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1512						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|breast(1)	7				GBM - Glioblastoma multiforme(29;0.00655)										0.569231	117.347781	117.615417	37	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37746564	37746564	6307	9	G	T	T	T	494	38	FRMPD1	1	1
FAM75A3	727830	broad.mit.edu	37	9	40702812	40702812	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:40702812C>A	uc010mmj.2	+	c.469C>A	c.(469-471)CCT>ACT	p.P157T		NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN	hypothetical protein LOC727830	157	Pro-rich.					integral to membrane				ovary(2)	2				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)										0.343182	345.567027	355.182998	151	289	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40702812	40702812	5845	9	C	A	A	A	390	30	FAM75A3	2	2
VPS13A	23230	broad.mit.edu	37	9	79853290	79853290	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:79853290A>G	uc004akr.2	+	c.1888A>G	c.(1888-1890)AAG>GAG	p.K630E	VPS13A_uc004akp.3_Missense_Mutation_p.K630E|VPS13A_uc004akq.3_Missense_Mutation_p.K630E|VPS13A_uc004aks.2_Missense_Mutation_p.K630E	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	630					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	7														0.538462	76.180355	76.230842	21	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79853290	79853290	17756	9	A	G	G	G	169	13	VPS13A	4	4
UBQLN1	29979	broad.mit.edu	37	9	86278912	86278912	+	Nonsense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:86278912C>A	uc004amv.2	-	c.1495G>T	c.(1495-1497)GGA>TGA	p.G499*	UBQLN1_uc004amw.2_Nonsense_Mutation_p.G471*	NM_013438	NP_038466	Q9UMX0	UBQL1_HUMAN	ubiquilin 1 isoform 1	499					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding				0						Melanoma(186;1284 2073 12755 14558 18426)								0.533333	216.741494	216.893111	80	70	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	86278912	86278912	17454	9	C	A	A	A	286	22	UBQLN1	5	2
IARS	3376	broad.mit.edu	37	9	95015708	95015708	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:95015708C>T	uc004art.1	-	c.2165G>A	c.(2164-2166)CGC>CAC	p.R722H	IARS_uc004ars.1_Missense_Mutation_p.R567H|IARS_uc004aru.3_Missense_Mutation_p.R722H|IARS_uc010mqr.2_Missense_Mutation_p.R612H|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	isoleucine tRNA synthetase	722					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)	1					L-Isoleucine(DB00167)									0.657143	132.667818	134.203866	46	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95015708	95015708	7773	9	C	T	T	T	351	27	IARS	1	1
DCAF12L2	340578	broad.mit.edu	37	X	125299020	125299020	+	Silent	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:125299020G>T	uc004euk.1	-	c.888C>A	c.(886-888)TCC>TCA	p.S296S		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	296	WD 3.									lung(2)|large_intestine(1)|ovary(1)|pancreas(1)	5														0.158996	57.921671	84.403243	38	201	KEEP	---	---	---	---	capture		Silent	SNP	125299020	125299020	4436	23	G	T	T	T	600	47	DCAF12L2	2	2
FRMPD4	9758	broad.mit.edu	37	X	12735849	12735849	+	Silent	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:12735849G>T	uc004cuz.1	+	c.2904G>T	c.(2902-2904)TCG>TCT	p.S968S	FRMPD4_uc011mij.1_Silent_p.S960S	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	968					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13														0.308511	74.740191	77.812625	29	65	KEEP	---	---	---	---	capture		Silent	SNP	12735849	12735849	6309	23	G	T	T	T	483	38	FRMPD4	1	1
SMARCA1	6594	broad.mit.edu	37	X	128633819	128633819	+	Splice_Site_SNP	SNP	C	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:128633819C>G	uc011muk.1	-	c.1168_splice	c.e10-1	p.V390_splice	SMARCA1_uc004eun.3_Splice_Site_SNP_p.V390_splice|SMARCA1_uc004eup.3_Splice_Site_SNP_p.V390_splice|SMARCA1_uc011mul.1_Splice_Site_SNP_p.V390_splice	NM_003069	NP_003060			SWI/SNF-related matrix-associated						ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of gene-specific transcription|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding|transcription regulator activity			ovary(3)|skin(1)	4														0.166667	65.989858	83.688866	28	140	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	128633819	128633819	15266	23	C	G	G	G	312	24	SMARCA1	5	3
SASH3	54440	broad.mit.edu	37	X	128926692	128926692	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:128926692C>G	uc011mun.1	+	c.681C>G	c.(679-681)ATC>ATG	p.I227M	SASH3_uc004euu.2_Missense_Mutation_p.I227M|SASH3_uc011muo.1_Missense_Mutation_p.I194M	NM_018990	NP_061863	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	227	SH3.									ovary(2)|pancreas(1)	3														0.179104	57.113919	70.104406	24	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128926692	128926692	14330	23	C	G	G	G	408	32	SASH3	3	3
MTM1	4534	broad.mit.edu	37	X	149787523	149787523	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:149787523C>A	uc004fef.3	+	c.355C>A	c.(355-357)CTG>ATG	p.L119M	MTM1_uc011mxx.1_Non-coding_Transcript|MTM1_uc011mxy.1_Missense_Mutation_p.L82M|MTM1_uc011mxz.1_Missense_Mutation_p.L4M|MTM1_uc010nte.2_Intron	NM_000252	NP_000243	Q13496	MTM1_HUMAN	myotubularin	119					endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			ovary(1)|kidney(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.216216	48.72895	56.987482	24	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149787523	149787523	10330	23	C	A	A	A	311	24	MTM1	2	2
PNMA3	29944	broad.mit.edu	37	X	152226624	152226624	+	Silent	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:152226624C>A	uc004fhc.2	+	c.1212C>A	c.(1210-1212)GGC>GGA	p.G404G	PNMA5_uc004fha.3_5'Flank|PNMA3_uc004fhd.2_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	paraneoplastic cancer-testis-brain antigen	404	Arg-rich.				apoptosis	nucleolus	nucleic acid binding|zinc ion binding			skin(2)|large_intestine(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.153846	37.821744	55.679736	24	132	KEEP	---	---	---	---	capture		Silent	SNP	152226624	152226624	12581	23	C	A	A	A	353	28	PNMA3	2	2
MECP2	4204	broad.mit.edu	37	X	153296370	153296370	+	Missense_Mutation	SNP	G	C	C	rs61751439		TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153296370G>C	uc004fjw.2	-	c.945C>G	c.(943-945)ATC>ATG	p.I315M	MECP2_uc004fjv.2_Missense_Mutation_p.I303M	NM_001110792	NP_001104262	P51608	MECP2_HUMAN	methyl CpG binding protein 2 isoform 2	303					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity|transcription repressor activity				0	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.204819	97.656404	111.072926	34	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153296370	153296370	9812	23	G	C	C	C	577	45	MECP2	3	3
TXLNG	55787	broad.mit.edu	37	X	16859727	16859727	+	Silent	SNP	T	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:16859727T>A	uc004cxq.1	+	c.1425T>A	c.(1423-1425)CCT>CCA	p.P475P	TXLNG_uc010ney.1_Silent_p.P343P	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	gamma-taxilin	475					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				lung(1)	1														0.237288	31.618548	35.341549	14	45	KEEP	---	---	---	---	capture		Silent	SNP	16859727	16859727	17345	23	T	A	A	A	704	55	TXLNG	3	3
MXRA5	25878	broad.mit.edu	37	X	3241311	3241311	+	Silent	SNP	A	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:3241311A>T	uc004crg.3	-	c.2415T>A	c.(2413-2415)ATT>ATA	p.I805I		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	805						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(23;0.00031)|Lung NSC(23;0.000946)												0.131783	20.109274	37.090151	17	112	KEEP	---	---	---	---	capture		Silent	SNP	3241311	3241311	10397	23	A	T	T	T	164	13	MXRA5	3	3
MAOA	4128	broad.mit.edu	37	X	43603416	43603416	+	Nonsense_Mutation	SNP	A	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:43603416A>T	uc004dfy.2	+	c.1435A>T	c.(1435-1437)AAG>TAG	p.K479*	MAOA_uc011mkw.1_Nonsense_Mutation_p.K346*	NM_000240	NP_000231	P21397	AOFA_HUMAN	monoamine oxidase A	479	Cytoplasmic.				behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|oxidation-reduction process|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			breast(2)|ovary(1)	3					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)									0.211111	37.472602	44.423843	19	71	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	43603416	43603416	9608	23	A	T	T	T	13	1	MAOA	5	3
CACNA1F	778	broad.mit.edu	37	X	49074373	49074373	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:49074373C>A	uc004dnb.2	-	c.3053G>T	c.(3052-3054)GGG>GTG	p.G1018V	CACNA1F_uc010nip.2_Missense_Mutation_p.G1007V	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	1018	Helical; Name=S5 of repeat III; (Potential).|III.		G -> R (in CSNB2A).		axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)					279				0.217391	18.520034	21.913444	10	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49074373	49074373	2659	23	C	A	A	A	286	22	CACNA1F	2	2
CCNB3	85417	broad.mit.edu	37	X	50094666	50094666	+	Silent	SNP	G	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:50094666G>A	uc004dox.3	+	c.4152G>A	c.(4150-4152)TTG>TTA	p.L1384L	CCNB3_uc004doy.2_Silent_p.L1384L|CCNB3_uc004doz.2_Silent_p.L280L|CCNB3_uc010njq.2_Silent_p.L276L|CCNB3_uc004dpa.2_Silent_p.L223L	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	1384					cell division|meiosis	nucleus				ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)													0.272727	34.297639	36.861231	15	40	KEEP	---	---	---	---	capture		Silent	SNP	50094666	50094666	3041	23	G	A	A	A	581	45	CCNB3	2	2
HUWE1	10075	broad.mit.edu	37	X	53674396	53674396	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:53674396A>T	uc004dsp.2	-	c.266T>A	c.(265-267)CTG>CAG	p.L89Q		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	89					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17														0.202247	41.605441	48.93142	18	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53674396	53674396	7761	23	A	T	T	T	91	7	HUWE1	3	3
IL2RG	3561	broad.mit.edu	37	X	70331295	70331295	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:70331295C>A	uc004dyw.1	-	c.95G>T	c.(94-96)GGG>GTG	p.G32V	IL2RG_uc004dyv.1_5'Flank|IL2RG_uc004dyx.1_Nonsense_Mutation_p.G2*	NM_000206	NP_000197	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma precursor	32	Extracellular (Potential).				immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			pancreas(1)	1	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)									0.175676	22.124622	29.470326	13	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70331295	70331295	7989	23	C	A	A	A	286	22	IL2RG	2	2
CHIC1	53344	broad.mit.edu	37	X	72899193	72899193	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:72899193G>T	uc004ebk.3	+	c.540G>T	c.(538-540)TGG>TGT	p.W180C	CHIC1_uc010nlo.2_Non-coding_Transcript|CHIC1_uc011mql.1_Nonsense_Mutation_p.G179*|CHIC1_uc004ebl.3_Missense_Mutation_p.W180C	NM_001039840	NP_001034929	Q5VXU3	CHIC1_HUMAN	cysteine-rich hydrophobic domain 1	180						cytoplasmic membrane-bounded vesicle|plasma membrane					0	Renal(35;0.156)													0.347826	20.291033	20.762033	8	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72899193	72899193	3477	23	G	T	T	T	559	43	CHIC1	2	2
ATRX	546	broad.mit.edu	37	X	76920178	76920178	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:76920178T>C	uc004ecp.3	-	c.3899A>G	c.(3898-3900)AAA>AGA	p.K1300R	ATRX_uc004ecq.3_Missense_Mutation_p.K1262R|ATRX_uc004eco.3_Missense_Mutation_p.K1085R|ATRX_uc004ecr.2_Missense_Mutation_p.K1232R	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1300					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)					2				0.457516	261.442121	261.681767	70	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76920178	76920178	1227	23	T	C	C	C	832	64	ATRX	4	4
P2RY10	27334	broad.mit.edu	37	X	78216121	78216121	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:78216121C>A	uc004ede.2	+	c.104C>A	c.(103-105)TCC>TAC	p.S35Y	P2RY10_uc004edf.2_Missense_Mutation_p.S35Y	NM_014499	NP_055314	O00398	P2Y10_HUMAN	G-protein coupled purinergic receptor P2Y10	35	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(1)	3														0.362205	113.596165	115.72575	46	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78216121	78216121	11760	23	C	A	A	A	390	30	P2RY10	2	2
BRWD3	254065	broad.mit.edu	37	X	79945592	79945592	+	Splice_Site_SNP	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:79945592C>A	uc004edt.2	-	c.3603_splice	c.e32-1	p.R1201_splice	BRWD3_uc010nmi.1_Splice_Site_SNP|BRWD3_uc004edo.2_Splice_Site_SNP_p.R797_splice|BRWD3_uc004edp.2_Splice_Site_SNP_p.R1030_splice|BRWD3_uc004edq.2_Splice_Site_SNP_p.R797_splice|BRWD3_uc010nmj.1_Splice_Site_SNP_p.R797_splice|BRWD3_uc004edr.2_Splice_Site_SNP_p.R871_splice|BRWD3_uc004eds.2_Splice_Site_SNP_p.R797_splice|BRWD3_uc004edu.2_Splice_Site_SNP_p.R871_splice|BRWD3_uc004edv.2_Splice_Site_SNP_p.R797_splice|BRWD3_uc004edw.2_Splice_Site_SNP_p.R797_splice|BRWD3_uc004edx.2_Splice_Site_SNP_p.R797_splice|BRWD3_uc004edy.2_Splice_Site_SNP_p.R797_splice|BRWD3_uc004edz.2_Splice_Site_SNP_p.R871_splice|BRWD3_uc004eea.2_Splice_Site_SNP_p.R871_splice|BRWD3_uc004eeb.2_Splice_Site_SNP_p.R797_splice	NM_153252	NP_694984			bromodomain and WD repeat domain containing 3											ovary(4)	4														0.181818	10.124678	13.271394	6	27	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	79945592	79945592	1557	23	C	A	A	A	312	24	BRWD3	5	2
CHM	1121	broad.mit.edu	37	X	85213885	85213885	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:85213885C>A	uc004eet.2	-	c.800G>T	c.(799-801)CGA>CTA	p.R267L	CHM_uc011mqz.1_Missense_Mutation_p.R119L	NM_000390	NP_000381	P24386	RAE1_HUMAN	choroideremia isoform a	267					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			ovary(1)	1		all_lung(315;5.41e-06)												0.125	21.344806	37.827725	15	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85213885	85213885	3484	23	C	A	A	A	403	31	CHM	1	1
PRR5L	79899	broad.mit.edu	37	11	36484020	36484021	+	Frame_Shift_Ins	INS	-	T	T			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:36484020_36484021insT	uc001mwo.3	+	c.841_842insT	c.(841-843)CTGfs	p.L281fs	PRR5L_uc001mwp.2_Frame_Shift_Ins_p.L281fs|PRR5L_uc009ykk.2_Frame_Shift_Ins_p.L153fs|PRR5L_uc010rfc.1_3'UTR	NM_001160167	NP_001153639	Q6MZQ0	PRR5L_HUMAN	protor-2 isoform a	281										ovary(1)	1														0.57			40	30		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	36484020	36484021	13051	11	-	T	T	T	311	24	PRR5L	5	5
KRT14	3861	broad.mit.edu	37	17	39742827	39742827	+	Frame_Shift_Del	DEL	C	-	-			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39742827_39742827delC	uc002hxf.1	-	c.260_260delG	c.(259-261)GGAfs	p.G87fs	JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Frame_Shift_Del_p.G87fs	NM_000526	NP_000517	P02533	K1C14_HUMAN	keratin 14	87	Head.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(1)	1		Breast(137;0.000307)												0.32			13	28		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	39742827	39742827	8766	17	C	-	-	-	390	30	KRT14	5	5
LRP1B	53353	broad.mit.edu	37	2	141128282	141128282	+	Frame_Shift_Del	DEL	T	-	-			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141128282_141128282delT	uc002tvj.1	-	c.11005_11005delA	c.(11005-11007)AGAfs	p.R3669fs		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3669	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.35			94	173		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	141128282	141128282	9328	2	T	-	-	-	726	56	LRP1B	5	5
ILDR1	286676	broad.mit.edu	37	3	121712106	121712106	+	Frame_Shift_Del	DEL	C	-	-			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:121712106_121712106delC	uc003ees.2	-	c.1490_1490delG	c.(1489-1491)CGCfs	p.R497fs	ILDR1_uc003eeq.2_Frame_Shift_Del_p.R465fs|ILDR1_uc003eer.2_Frame_Shift_Del_p.R453fs|ILDR1_uc010hrg.2_Frame_Shift_Del_p.R408fs	NM_175924	NP_787120	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor	497	Cytoplasmic (Potential).					cytosol|integral to membrane|plasma membrane	receptor activity				0				GBM - Glioblastoma multiforme(114;0.156)										0.54			20	17		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	121712106	121712106	8010	3	C	-	-	-	351	27	ILDR1	5	5
DEFB112	245915	broad.mit.edu	37	6	50016286	50016286	+	Frame_Shift_Del	DEL	C	-	-			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:50016286_50016286delC	uc011dws.1	-	c.79_79delG	c.(79-81)GAAfs	p.E27fs		NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN	beta-defensin 112 precursor	27					defense response to bacterium	extracellular region				central_nervous_system(1)	1	Lung NSC(77;0.042)													0.43			49	64		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	50016286	50016286	4578	6	C	-	-	-	377	29	DEFB112	5	5
GCLC	2729	broad.mit.edu	37	6	53372308	53372311	+	Frame_Shift_Del	DEL	TATC	-	-			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:53372308_53372311delTATC	uc003pbw.1	-	c.1051_1054delGATA	c.(1051-1056)GATAAAfs	p.D351fs	GCLC_uc003pbv.1_Frame_Shift_Del_p.D75fs	NM_001498	NP_001489	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	351_352					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			ovary(1)|central_nervous_system(1)	2	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)									0.32			63	132		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	53372308	53372311	6561	6	TATC	-	-	-	793	61	GCLC	5	5
PKN3	29941	broad.mit.edu	37	9	131467820	131467820	+	Frame_Shift_Del	DEL	C	-	-			TCGA-73-4666-01	TCGA-73-4666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:131467820_131467820delC	uc004bvw.2	+	c.263_263delC	c.(262-264)GCTfs	p.A88fs	PKN3_uc010myh.2_Frame_Shift_Del_p.A88fs|PKN3_uc011mbk.1_5'UTR	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	protein kinase PKNbeta	88	REM 1.				protein phosphorylation|signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			lung(2)	2										307				0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	131467820	131467820	12406	9	C	-	-	-	364	28	PKN3	5	5
