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	i_TCGAscape_Amplification_Peaks	i_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_normal_best_gt	i_failure_reasons	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	context_orig	context65	gene_name	newbase	categ	categ_ignoring_null_categ
GPRIN2	9721	broad.mit.edu	36	10	46420149	46420149	+	Silent	SNP	G	C	C			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:46420149G>C	uc001jec.1	+	c.1263G>C	c.(1261-1263)GCG>GCC	p.A421A	GPRIN2_uc009xmz.1_Silent_p.A421A	NM_014696	NP_055511	O60269	GRIN2_HUMAN	G protein-regulated inducer of neurite outgrowth	421											0														0.5	6.778762	6.778762	4	4	GG		KEEP	---	---	---	---	capture			Silent	SNP	46420149	46420149	7006	10	G	C	C	38	38	GPRIN2	C	3	3
FOXRED1	55572	broad.mit.edu	36	11	125651501	125651501	+	Missense_Mutation	SNP	A	G	G			TCGA-06-0137-01	TCGA-06-0137-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:125651501A>G	uc001qdi.1	+	c.974A>G	c.(973-975)TAT>TGT	p.Y325C	FOXRED1_uc001qdj.1_Missense_Mutation_p.Y114C|FOXRED1_uc001qdk.1_Missense_Mutation_p.Y114C	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing	325					oxidation-reduction process	integral to membrane|mitochondrion	oxidoreductase activity|protein binding				0	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)												0.207547	11.425754	15.725182	11	42	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)	Missense_Mutation	SNP	125651501	125651501	6279	11	A	G	G	16	16	FOXRED1	G	4	4
CD44	960	broad.mit.edu	36	11	35184339	35184339	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:35184339C>T	uc001mvu.1	+	c.1387C>T	c.(1387-1389)CGA>TGA	p.R463*	CD44_uc001mvv.1_Nonsense_Mutation_p.R420*|CD44_uc001mvw.1_Intron|CD44_uc001mvx.1_Intron|CD44_uc001mvy.1_Intron|CD44_uc001mwc.2_Intron|CD44_uc009ykh.1_Intron|CD44_uc001mwb.1_Intron|CD44_uc001mvz.1_Nonsense_Mutation_p.R27*|CD44_uc001mwa.1_Intron	NM_000610	NP_000601	P16070	CD44_HUMAN	CD44 antigen isoform 1 precursor	463	Extracellular (Potential).|Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			pancreas(1)	1	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)			Hyaluronidase(DB00070)					401				0.443709	200.507173	200.923364	67	84	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(6;0.00731)		Nonsense_Mutation	SNP	35184339	35184339	3145	11	C	T	T	19	19	CD44	T	5	1
OR51F1	256892	broad.mit.edu	36	11	4747523	4747523	+	Missense_Mutation	SNP	C	A	A			TCGA-06-0137-01	TCGA-06-0137-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:4747523C>A	uc001lzl.1	-	c.201G>T	c.(199-201)AGG>AGT	p.R67S		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F,	67						integral to membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)												0.206897	13.23244	15.542506	6	23	CC		KEEP	---	---	---	---	capture		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)	Missense_Mutation	SNP	4747523	4747523	11506	11	C	A	A	26	26	OR51F1	A	3	3
OR4C16	219428	broad.mit.edu	36	11	55096271	55096271	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55096271G>A	uc001nhp.1	+	c.92G>A	c.(91-93)CGT>CAT	p.R31H		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	31	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.0748)												0.346535	198.795218	202.992318	70	132	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55096271	55096271	11455	11	G	A	A	40	40	OR4C16	A	1	1
FOLR1	2348	broad.mit.edu	36	11	71584320	71584320	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:71584320G>A	uc001orz.1	+	c.374G>A	c.(373-375)CGC>CAC	p.R125H	FOLR1_uc001osa.1_Missense_Mutation_p.R125H|FOLR1_uc001osb.1_Missense_Mutation_p.R125H|FOLR1_uc001osc.1_Missense_Mutation_p.R125H|FOLR1_uc001osd.1_Missense_Mutation_p.R125H	NM_016724	NP_057943	P15328	FOLR1_HUMAN	folate receptor 1 precursor	125					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			ovary(1)	1														0.45	133.663705	133.88121	45	55	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71584320	71584320	6223	11	G	A	A	38	38	FOLR1	A	1	1
DAO	1610	broad.mit.edu	36	12	107817324	107817324	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:107817324C>T	uc001tnr.2	+	c.856C>T	c.(856-858)CGC>TGC	p.R286C	DAO_uc001tnq.2_Missense_Mutation_p.R220C|DAO_uc009zvb.1_Non-coding_Transcript|DAO_uc001tns.2_Non-coding_Transcript	NM_001917	NP_001908	P14920	OXDA_HUMAN	D-amino-acid oxidase	286					glyoxylate metabolic process|oxidation-reduction process	peroxisomal matrix	binding|D-amino-acid oxidase activity			ovary(1)|skin(1)	2														0.487805	58.405675	58.410402	20	21	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107817324	107817324	4398	12	C	T	T	19	19	DAO	T	1	1
NOS1	4842	broad.mit.edu	36	12	116253050	116253050	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:116253050G>A	uc001twm.1	-	c.208C>T	c.(208-210)CGG>TGG	p.R70W		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	70	Interaction with NOSIP (By similarity).|PDZ.				arginine catabolic process|multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|oxidation-reduction process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(2)|pancreas(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				L-Citrulline(DB00155)	Esophageal Squamous(162;1748 2599 51982 52956)								0.566667	219.751209	220.227129	68	52	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(302;0.0561)	Missense_Mutation	SNP	116253050	116253050	10944	12	G	A	A	39	39	NOS1	A	1	1
PIK3C2G	5288	broad.mit.edu	36	12	18468201	18468201	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:18468201G>A	uc001rds.1	+	c.2342G>A	c.(2341-2343)CGC>CAC	p.R781H	PIK3C2G_uc001rdt.1_Missense_Mutation_p.R781H	NM_004570	NP_004561	O75747	P3C2G_HUMAN	phosphoinositide-3-kinase, class 2, gamma	781					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.R781H(1)		central_nervous_system(6)|lung(4)|ovary(2)|breast(1)	13		Hepatocellular(102;0.194)								655				0.294118	23.729604	25.024288	10	24	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18468201	18468201	12335	12	G	A	A	38	38	PIK3C2G	A	1	1
AMDHD1	144193	broad.mit.edu	36	12	94878394	94878394	+	Silent	SNP	C	T	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:94878394C>T	uc001tel.1	+	c.675C>T	c.(673-675)CAC>CAT	p.H225H	AMDHD1_uc009zth.1_Silent_p.H116H	NM_152435	NP_689648	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	225					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)	1														0.464286	155.978454	156.103646	52	60	CC		KEEP	---	---	---	---	capture			Silent	SNP	94878394	94878394	570	12	C	T	T	19	19	AMDHD1	T	1	1
MYH6	4624	broad.mit.edu	36	14	22925600	22925600	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:22925600C>T	uc001wjv.2	-	c.4723G>A	c.(4723-4725)GAG>AAG	p.E1575K		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1575	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)	3	all_cancers(95;2.54e-05)													0.471471	479.849798	480.08538	157	176	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	Missense_Mutation	SNP	22925600	22925600	10433	14	C	T	T	31	31	MYH6	T	1	1
ATL1	51062	broad.mit.edu	36	14	50149811	50149811	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:50149811C>T	uc001wyf.2	+	c.715C>T	c.(715-717)CGC>TGC	p.R239C	ATL1_uc001wyd.2_Missense_Mutation_p.R239C|ATL1_uc001wye.2_Missense_Mutation_p.R239C|ATL1_uc010anw.1_Missense_Mutation_p.R239C	NM_015915	NP_853629	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1 isoform a	239	Cytoplasmic.		R -> C (in SPG3; affects endoplasmic reticulum and Golgi morphology).		axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)	1														0.372093	95.302723	96.528722	32	54	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50149811	50149811	1125	14	C	T	T	19	19	ATL1	T	1	1
CCDC88C	440193	broad.mit.edu	36	14	90849580	90849580	+	Missense_Mutation	SNP	C	G	G			TCGA-06-0137-01	TCGA-06-0137-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:90849580C>G	uc010aty.1	-	c.2333G>C	c.(2332-2334)AGC>ACC	p.S778T		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	778	Potential.				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)												0.222222	8.087633	9.368686	4	14	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	90849580	90849580	2990	14	C	G	G	28	28	CCDC88C	G	3	3
POTEB	339010	broad.mit.edu	36	15	19315855	19315855	+	Missense_Mutation	SNP	C	A	A			TCGA-06-0137-01	TCGA-06-0137-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:19315855C>A	uc001ytu.1	-	c.1307G>T	c.(1306-1308)GGT>GTT	p.G436V	POTEB_uc010axv.1_Non-coding_Transcript	NM_207355	NP_997238	Q6S5H4	POTEB_HUMAN	protein expressed in prostate, ovary, testis,	436											0														0.181495	104.958342	131.743214	51	230	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19315855	19315855	12691	15	C	A	A	18	18	POTEB	A	3	3
RYR3	6263	broad.mit.edu	36	15	31682814	31682814	+	Silent	SNP	C	T	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:31682814C>T	uc001zhi.1	+	c.2121C>T	c.(2119-2121)GAC>GAT	p.D707D	RYR3_uc010bar.1_Silent_p.D707D	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	707	Cytoplasmic (By similarity).|B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.D707D(1)		ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)												0.40118	401.931506	404.825761	136	203	CC		KEEP	---	---	---	---	capture		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	Silent	SNP	31682814	31682814	14250	15	C	T	T	19	19	RYR3	T	1	1
PLCB2	5330	broad.mit.edu	36	15	38371120	38371120	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:38371120C>T	uc001zld.1	-	c.2626G>A	c.(2626-2628)GAG>AAG	p.E876K	PLCB2_uc001zlc.1_5'Flank|PLCB2_uc010bbo.1_Missense_Mutation_p.E872K	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	876					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)|breast(3)|kidney(1)|pancreas(1)	8		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)								1073				0.346154	26.366648	26.910212	9	17	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	Missense_Mutation	SNP	38371120	38371120	12454	15	C	T	T	32	32	PLCB2	T	2	2
IGFALS	3483	broad.mit.edu	36	16	1780819	1780819	+	Missense_Mutation	SNP	T	C	C			TCGA-06-0137-01	TCGA-06-0137-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1780819T>C	uc002cmy.1	-	c.1601A>G	c.(1600-1602)GAG>GGG	p.E534G		NM_004970	NP_004961	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid	534					cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding				0														0.6	6.906931	6.947423	3	2	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	1780819	1780819	7878	16	T	C	C	54	54	IGFALS	C	4	4
ACSM3	6296	broad.mit.edu	36	16	20694674	20694674	+	Missense_Mutation	SNP	C	A	A			TCGA-06-0137-01	TCGA-06-0137-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:20694674C>A	uc002dhr.1	+	c.232C>A	c.(232-234)CCT>ACT	p.P78T	ACSM3_uc002dhq.1_Missense_Mutation_p.P78T	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	SA hypertension-associated homolog isoform 1	78					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			ovary(1)	1														0.384615	200.336673	202.308856	65	104	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20694674	20694674	186	16	C	A	A	18	18	ACSM3	A	3	3
ITGAM	3684	broad.mit.edu	36	16	31245728	31245728	+	Missense_Mutation	SNP	C	A	A			TCGA-06-0137-01	TCGA-06-0137-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:31245728C>A	uc002ebr.1	+	c.2682C>A	c.(2680-2682)AAC>AAA	p.N894K	ITGAM_uc002ebq.1_Missense_Mutation_p.N893K|ITGAM_uc010can.1_Missense_Mutation_p.N299K|ITGAM_uc002ebs.1_Missense_Mutation_p.N299K	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M precursor	893	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1														0.36803	297.550123	301.670439	99	170	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31245728	31245728	8191	16	C	A	A	17	17	ITGAM	A	3	3
RRAD	6236	broad.mit.edu	36	16	65515265	65515265	+	Silent	SNP	G	A	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:65515265G>A	uc002eqn.2	-	c.429C>T	c.(427-429)TAC>TAT	p.Y143Y	RRAD_uc002eqo.2_Silent_p.Y143Y	NM_001128850	NP_001122322	P55042	RAD_HUMAN	Ras-related associated with diabetes	143					small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity				0		Ovarian(137;0.192)												0.404545	257.522	259.276554	89	131	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)	Silent	SNP	65515265	65515265	14151	16	G	A	A	40	40	RRAD	A	1	1
CHST5	23563	broad.mit.edu	36	16	74121592	74121592	+	Silent	SNP	G	A	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:74121592G>A	uc002fej.1	-	c.210C>T	c.(208-210)CAC>CAT	p.H70H	CHST5_uc002fei.1_Silent_p.H64H|CHST5_uc010cgw.1_Silent_p.H64H	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	64	Lumenal (Potential).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0														0.483871	45.14953	45.154943	15	16	GG		KEEP	---	---	---	---	capture			Silent	SNP	74121592	74121592	3541	16	G	A	A	40	40	CHST5	A	1	1
KIF2B	84643	broad.mit.edu	36	17	49255727	49255727	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:49255727G>A	uc002iua.2	+	c.334G>A	c.(334-336)GCC>ACC	p.A112T		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	112					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)	5														0.405556	201.730817	203.135923	73	107	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49255727	49255727	8609	17	G	A	A	38	38	KIF2B	A	1	1
UTS2R	2837	broad.mit.edu	36	17	77925894	77925894	+	Silent	SNP	C	T	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:77925894C>T	uc002ker.1	+	c.405C>T	c.(403-405)CAC>CAT	p.H135H		NM_018949	NP_061822	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	135	Helical; Name=3; (Potential).					integral to membrane|plasma membrane				breast(1)	1	Breast(20;0.00106)|all_neural(118;0.0804)													0.541667	81.256965	81.330242	26	22	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)		Silent	SNP	77925894	77925894	17671	17	C	T	T	19	19	UTS2R	T	1	1
PRKCSH	5589	broad.mit.edu	36	19	11420740	11420740	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11420740G>A	uc002mrt.1	+	c.1277G>A	c.(1276-1278)CGC>CAC	p.R426H	PRKCSH_uc002mru.1_Missense_Mutation_p.R423H|PRKCSH_uc010dya.1_Missense_Mutation_p.R208H|PRKCSH_uc010dyb.1_Missense_Mutation_p.R423H|PRKCSH_uc002mrw.1_Missense_Mutation_p.R304H	NM_002743	NP_002734	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H isoform 1	426	PRKCSH.				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding				0														0.326848	222.449795	229.26577	84	173	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	11420740	11420740	12959	19	G	A	A	38	38	PRKCSH	A	1	1
ZNF491	126069	broad.mit.edu	36	19	11778007	11778007	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11778007G>A	uc002mso.1	+	c.239G>A	c.(238-240)CGT>CAT	p.R80H	ZNF491_uc010dyl.1_Missense_Mutation_p.R80H	NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.342282	135.07486	138.35168	51	98	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	11778007	11778007	18536	19	G	A	A	40	40	ZNF491	A	1	1
HSH2D	84941	broad.mit.edu	36	19	16120656	16120656	+	Silent	SNP	C	T	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:16120656C>T	uc002ndp.2	+	c.96C>T	c.(94-96)CCC>CCT	p.P32P	HSH2D_uc002ndr.1_5'UTR|HSH2D_uc010ead.1_Non-coding_Transcript	NM_032855	NP_116244	Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	32						cytoplasm|nucleus					0														0.349057	108.252968	110.379575	37	69	CC		KEEP	---	---	---	---	capture			Silent	SNP	16120656	16120656	7699	19	C	T	T	23	23	HSH2D	T	1	1
LYPD4	147719	broad.mit.edu	36	19	47033089	47033089	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:47033089C>T	uc002orp.1	-	c.709G>A	c.(709-711)GTC>ATC	p.V237I	LYPD4_uc002orq.1_Missense_Mutation_p.V202I	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	237						anchored to membrane|plasma membrane				ovary(1)	1														0.25	124.838186	136.421448	51	153	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47033089	47033089	9489	19	C	T	T	19	19	LYPD4	T	1	1
RFX2	5990	broad.mit.edu	36	19	5948146	5948146	+	Silent	SNP	G	A	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:5948146G>A	uc002meb.1	-	c.1938C>T	c.(1936-1938)GAC>GAT	p.D646D	RFX2_uc002mec.1_Silent_p.D621D	NM_000635	NP_000626	P48378	RFX2_HUMAN	regulatory factor X2 isoform a	646					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription regulator activity			breast(4)|ovary(1)	5						Colon(38;171 817 19800 47433 48051)								0.261905	53.178433	57.445155	22	62	GG		KEEP	---	---	---	---	capture			Silent	SNP	5948146	5948146	13735	19	G	A	A	40	40	RFX2	A	1	1
LILRB1	10859	broad.mit.edu	36	19	59835376	59835376	+	Silent	SNP	C	T	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:59835376C>T	uc002qgm.1	+	c.537C>T	c.(535-537)CGC>CGT	p.R179R	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgj.1_Silent_p.R179R|LILRB1_uc002qgk.1_Silent_p.R179R|LILRB1_uc002qgl.1_Silent_p.R179R|LILRB1_uc010erq.1_Silent_p.R179R|LILRB1_uc010err.1_Non-coding_Transcript	NM_001081637	NP_001075106	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	179	Ig-like C2-type 2.|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														0.310044	184.168987	191.515119	71	158	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0188)	Silent	SNP	59835376	59835376	9116	19	C	T	T	27	27	LILRB1	T	1	1
KIAA1543	57662	broad.mit.edu	36	19	7582422	7582422	+	Silent	SNP	G	A	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:7582422G>A	uc002mgu.2	+	c.1224G>A	c.(1222-1224)CCG>CCA	p.P408P	KIAA1543_uc002mgv.2_Silent_p.P381P	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	hypothetical protein LOC57662 isoform 1	381					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			pancreas(1)	1														0.387755	56.214735	56.755347	19	30	GG		KEEP	---	---	---	---	capture			Silent	SNP	7582422	7582422	8552	19	G	A	A	40	40	KIAA1543	A	1	1
C1orf161	126868	broad.mit.edu	36	1	116468422	116468422	+	Silent	SNP	C	T	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:116468422C>T	uc001egc.1	+	c.402C>T	c.(400-402)GAC>GAT	p.D134D		NM_152367	NP_689580	Q8N8X9	MB213_HUMAN	hypothetical protein LOC126868	134											0	Lung SC(450;0.184)	all_cancers(81;0.00142)|all_lung(203;0.000139)|all_epithelial(167;0.000401)|Lung NSC(69;0.000705)												0.37	102.649701	104.134371	37	63	CC		KEEP	---	---	---	---	capture		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	Silent	SNP	116468422	116468422	2076	1	C	T	T	19	19	C1orf161	T	1	1
MTMR11	10903	broad.mit.edu	36	1	148168220	148168220	+	Silent	SNP	T	C	C			TCGA-06-0137-01	TCGA-06-0137-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:148168220T>C	uc001etm.1	-	c.1644A>G	c.(1642-1644)CCA>CCG	p.P548P	SF3B4_uc001etj.1_5'Flank|SF3B4_uc001etk.1_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etl.2_Silent_p.P592P	NM_181873	NP_870988	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	620	Myotubularin phosphatase.						phosphatase activity			central_nervous_system(1)	1	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)									238				0.468085	319.095035	319.305353	110	125	TT		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Silent	SNP	148168220	148168220	10333	1	T	C	C	55	55	MTMR11	C	4	4
NTRK1	4914	broad.mit.edu	36	1	155103341	155103341	+	Silent	SNP	C	T	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:155103341C>T	uc001fqh.1	+	c.375C>T	c.(373-375)AAC>AAT	p.N125N	NTRK1_uc001fqf.1_Silent_p.N95N|NTRK1_uc009wsi.1_De_novo_Start_OutOfFrame|NTRK1_uc001fqi.1_Silent_p.N125N|NTRK1_uc009wsk.1_Silent_p.N125N	NM_002529	NP_002520	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	125	LRR 2.|Extracellular (Potential).				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|stomach(1)|central_nervous_system(1)	16	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)					290	TSP Lung(10;0.080)			0.338462	123.464722	126.462101	44	86	CC		KEEP	---	---	---	---	capture			Silent	SNP	155103341	155103341	11111	1	C	T	T	19	19	NTRK1	T	1	1
FCRL2	79368	broad.mit.edu	36	1	156006333	156006333	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:156006333G>A	uc001fre.1	-	c.542C>T	c.(541-543)ACG>ATG	p.T181M	FCRL2_uc001frd.1_5'Flank|FCRL2_uc009wsp.1_Intron	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2 isoform b	181	Extracellular (Potential).|Ig-like C2-type 2.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			ovary(1)|pancreas(1)	2	all_hematologic(112;0.0378)													0.414815	165.361453	166.219458	56	79	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.24)		Missense_Mutation	SNP	156006333	156006333	6032	1	G	A	A	40	40	FCRL2	A	1	1
FCAMR	83953	broad.mit.edu	36	1	205202402	205202402	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:205202402C>T	uc001hfc.2	-	c.356G>A	c.(355-357)CGT>CAT	p.R119H	FCAMR_uc001hfa.2_Missense_Mutation_p.R99H|FCAMR_uc001hfb.2_Missense_Mutation_p.R144H|FCAMR_uc009xca.1_Missense_Mutation_p.R144H	NM_001122980	NP_001116452	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity isoform 2	99	Extracellular (Potential).|Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			ovary(1)	1						Ovarian(199;1883 2142 16966 44409 45154)								0.444444	72.294696	72.439519	24	30	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	205202402	205202402	6009	1	C	T	T	19	19	FCAMR	T	1	1
PLXNA2	5362	broad.mit.edu	36	1	206319336	206319336	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:206319336G>C	uc001hgz.1	-	c.2478C>G	c.(2476-2478)TGC>TGG	p.C826W		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2	826	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)	2														0.307692	9.193454	9.623058	4	9	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.199)	Missense_Mutation	SNP	206319336	206319336	12546	1	G	C	C	46	46	PLXNA2	C	3	3
PCNXL2	80003	broad.mit.edu	36	1	231298136	231298136	+	Missense_Mutation	SNP	A	G	G			TCGA-06-0137-01	TCGA-06-0137-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:231298136A>G	uc001hvl.2	-	c.3934T>C	c.(3934-3936)TTT>CTT	p.F1312L	PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.1_Intron|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1312	Helical; (Potential).					integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)												0.473684	33.475172	33.486525	9	10	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	231298136	231298136	12012	1	A	G	G	3	3	PCNXL2	G	4	4
C1orf100	200159	broad.mit.edu	36	1	242594644	242594644	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:242594644C>T	uc001iah.1	+	c.19C>T	c.(19-21)CGA>TGA	p.R7*	C1orf100_uc001iai.1_Nonsense_Mutation_p.R7*	NM_001012970	NP_001012988	Q5SVJ3	CA100_HUMAN	hypothetical protein LOC200159	7											0	all_cancers(71;3.94e-05)|all_epithelial(71;0.000138)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|all_lung(81;0.0736)|Ovarian(71;0.0761)|Lung NSC(105;0.103)													0.336842	88.458205	90.701294	32	63	CC		KEEP	---	---	---	---	capture	all cancers(7;8.19e-08)|GBM - Glioblastoma multiforme(7;2.05e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.000984)		Nonsense_Mutation	SNP	242594644	242594644	2042	1	C	T	T	19	19	C1orf100	T	5	1
MYOM3	127294	broad.mit.edu	36	1	24306188	24306188	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:24306188G>C	uc001bin.2	-	c.364C>G	c.(364-366)CTG>GTG	p.L122V	MYOM3_uc001bio.2_Missense_Mutation_p.L122V|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	122	Potential.									ovary(1)	1		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)												0.307692	8.393046	8.822939	4	9	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	Missense_Mutation	SNP	24306188	24306188	10488	1	G	C	C	34	34	MYOM3	C	3	3
OR2T10	127069	broad.mit.edu	36	1	246823058	246823058	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:246823058G>A	uc001ieq.1	-	c.635C>T	c.(634-636)ACG>ATG	p.T212M		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T,	212	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)													0.823529	139.379187	144.410701	42	9	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		Missense_Mutation	SNP	246823058	246823058	11423	1	G	A	A	40	40	OR2T10	A	1	1
RPS6KA1	6195	broad.mit.edu	36	1	26757952	26757952	+	Silent	SNP	C	T	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:26757952C>T	uc001bms.1	+	c.1179C>T	c.(1177-1179)ACC>ACT	p.T393T	RPS6KA1_uc001bmr.1_Silent_p.T384T|RPS6KA1_uc009vsl.1_Silent_p.T227T	NM_001006665	NP_001006666	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	384	AGC-kinase C-terminal.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of caspase activity|nerve growth factor receptor signaling pathway|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|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|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)								655				0.453488	114.195663	114.359331	39	47	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	Silent	SNP	26757952	26757952	14130	1	C	T	T	23	23	RPS6KA1	T	1	1
MACF1	23499	broad.mit.edu	36	1	39322565	39322565	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:39322565C>T	uc009vvo.1	+	c.88C>T	c.(88-90)CGG>TGG	p.R30W	MACF1_uc009vvp.1_Missense_Mutation_p.R30W	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	30	Actin-binding.				cell cycle arrest	cytoplasm|cytoskeleton	actin filament binding|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)	14	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)												0.362069	54.464104	55.432763	21	37	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		Missense_Mutation	SNP	39322565	39322565	9521	1	C	T	T	27	27	MACF1	T	1	1
LAMA5	3911	broad.mit.edu	36	20	60320721	60320721	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:60320721G>A	uc002ycq.1	-	c.9407C>T	c.(9406-9408)GCG>GTG	p.A3136V		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5	3136	Laminin G-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding|receptor activity|structural molecule activity			pancreas(1)	1	Breast(26;1.57e-08)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.190476	7.890955	9.769765	4	17	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Missense_Mutation	SNP	60320721	60320721	8932	20	G	A	A	38	38	LAMA5	A	1	1
LRRC3	81543	broad.mit.edu	36	21	44701635	44701635	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:44701635G>A	uc002zfa.1	+	c.680G>A	c.(679-681)CGC>CAC	p.R227H	LRRC3_uc010gpu.1_Missense_Mutation_p.R227H	NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	leucine-rich repeat-containing 3 precursor	227						integral to membrane	protein binding				0		Breast(209;0.00908)												0.44086	115.559852	115.843183	41	52	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)	Missense_Mutation	SNP	44701635	44701635	9359	21	G	A	A	38	38	LRRC3	A	1	1
KRTAP10-10	353333	broad.mit.edu	36	21	44882303	44882303	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:44882303G>A	uc002zfq.1	+	c.541G>A	c.(541-543)GCC>ACC	p.A181T	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	keratin associated protein 10-10	181	15 X 5 AA repeats of C-C-X(3).|12.					keratin filament					0														0.454545	320.121225	320.613687	125	150	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44882303	44882303	8821	21	G	A	A	38	38	KRTAP10-10	A	1	1
SGSM1	129049	broad.mit.edu	36	22	23593061	23593061	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:23593061G>A	uc003abg.2	+	c.928G>A	c.(928-930)GTC>ATC	p.V310I	SGSM1_uc003abh.2_Missense_Mutation_p.V310I|SGSM1_uc010guu.1_Missense_Mutation_p.V310I|SGSM1_uc003abj.2_Missense_Mutation_p.V310I|SGSM1_uc003abi.1_Missense_Mutation_p.V285I	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	310	Required for interaction with RAP family members.					Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5														0.142857	6.884405	10.323031	4	24	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23593061	23593061	14713	22	G	A	A	40	40	SGSM1	A	1	1
SYN3	8224	broad.mit.edu	36	22	31254868	31254868	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:31254868C>T	uc003amx.1	-	c.1223G>A	c.(1222-1224)AGA>AAA	p.R408K	SYN3_uc003amy.1_Missense_Mutation_p.R408K|SYN3_uc003amz.1_Missense_Mutation_p.R407K	NM_003490	NP_003481	O14994	SYN3_HUMAN	synapsin III isoform IIIa	408	J; Pro-rich linker.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity				0										35		OREG0026488	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.442623	82.916068	83.091222	27	34	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31254868	31254868	15963	22	C	T	T	32	32	SYN3	T	2	2
CELSR1	9620	broad.mit.edu	36	22	45238728	45238728	+	Silent	SNP	G	A	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:45238728G>A	uc003bhw.1	-	c.3723C>T	c.(3721-3723)GAC>GAT	p.D1241D		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1241	Extracellular (Potential).				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			pancreas(2)|skin(1)	3		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)												0.394737	84.966197	85.691969	30	46	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	Silent	SNP	45238728	45238728	3354	22	G	A	A	40	40	CELSR1	A	1	1
CFC1B	653275	broad.mit.edu	36	2	131072714	131072714	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:131072714G>A	uc002tro.1	-	c.218C>T	c.(217-219)CCG>CTG	p.P73L		NM_001079530	NP_115934	P0CG36	CFC1B_HUMAN	cripto, FRL-1, cryptic family 1B	73					gastrulation	extracellular region					0	Colorectal(110;0.1)													0.233533	96.777121	107.604053	39	128	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	131072714	131072714	3413	2	G	A	A	39	39	CFC1B	A	1	1
TTN	7273	broad.mit.edu	36	2	179205718	179205718	+	Silent	SNP	G	A	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179205718G>A	uc002umr.1	-	c.35556C>T	c.(35554-35556)TTC>TTT	p.F11852F	TTN_uc002ums.1_Silent_p.F5547F|TTN_uc010frc.1_Silent_p.F5480F|TTN_uc010frd.1_Silent_p.F5355F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12779										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153										8722				0.407563	292.63115	294.407742	97	141	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Silent	SNP	179205718	179205718	17290	2	G	A	A	37	37	TTN	A	1	1
ITGA4	3676	broad.mit.edu	36	2	182066376	182066376	+	Silent	SNP	G	A	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:182066376G>A	uc002unu.1	+	c.1233G>A	c.(1231-1233)TCG>TCA	p.S411S		NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	411	FG-GAP 6.|Extracellular (Potential).				B cell differentiation|blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6					Natalizumab(DB00108)									0.470588	120.400108	120.463296	40	45	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Silent	SNP	182066376	182066376	8182	2	G	A	A	40	40	ITGA4	A	1	1
POLQ	10721	broad.mit.edu	36	3	122695145	122695145	+	Silent	SNP	G	T	T			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:122695145G>T	uc003eee.2	-	c.2392C>A	c.(2392-2394)CGG>AGG	p.R798R	POLQ_uc003eed.1_5'Flank	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	798					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity			ovary(4)|skin(1)	5						Pancreas(152;907 1925 26081 31236 36904)								0.365079	63.707042	64.71593	23	40	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.0915)	Silent	SNP	122695145	122695145	12636	3	G	T	T	37	37	POLQ	T	3	3
AGTR1	185	broad.mit.edu	36	3	149941930	149941930	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:149941930C>T	uc003ewg.1	+	c.418C>T	c.(418-420)CGC>TGC	p.R140C	AGTR1_uc003ewh.1_Missense_Mutation_p.R140C|AGTR1_uc003ewi.1_Missense_Mutation_p.R140C|AGTR1_uc003ewj.1_Missense_Mutation_p.R140C|AGTR1_uc003ewk.1_Missense_Mutation_p.R140C|AGTR1_uc010hvd.1_Missense_Mutation_p.R140C	NM_031850	NP_114438	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	140	Cytoplasmic (Potential).				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|oxygen and reactive oxygen species metabolic process|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|regulation of blood vessel size by renin-angiotensin|regulation of cell growth|regulation of cell proliferation|regulation of natriuresis|regulation of vasoconstriction|regulation of vasodilation|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction	integral to plasma membrane	acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity				0					Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)									0.462555	311.945817	312.223199	105	122	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Missense_Mutation	SNP	149941930	149941930	404	3	C	T	T	19	19	AGTR1	T	1	1
RTP2	344892	broad.mit.edu	36	3	188899418	188899418	+	Silent	SNP	G	A	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:188899418G>A	uc003fro.1	-	c.240C>T	c.(238-240)CGC>CGT	p.R80R		NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	receptor transporting protein 2	80	Cytoplasmic (Potential).				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding				0	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)													0.439024	53.54591	53.678364	18	23	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)	Silent	SNP	188899418	188899418	14214	3	G	A	A	38	38	RTP2	A	1	1
SCN5A	6331	broad.mit.edu	36	3	38567887	38567887	+	Silent	SNP	G	A	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:38567887G>A	uc003cio.1	-	c.4980C>T	c.(4978-4980)ATC>ATT	p.I1660I	SCN5A_uc010hhh.1_Silent_p.I131I|SCN5A_uc003cim.1_Silent_p.I1472I|SCN5A_uc003cin.1_Silent_p.I1659I|SCN5A_uc003cil.2_Silent_p.I1660I|SCN5A_uc010hhi.1_Silent_p.I1642I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1660	Helical; Name=S5 of repeat IV; (Potential).		I -> V (in BRS1; disease phenotype in the presence of L-336 on the other allele).		blood circulation|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|central_nervous_system(1)	7	Medulloblastoma(35;0.163)				Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)									0.270588	119.172942	127.245098	46	124	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Silent	SNP	38567887	38567887	14404	3	G	A	A	37	37	SCN5A	A	1	1
SCN10A	6336	broad.mit.edu	36	3	38740040	38740040	+	Silent	SNP	G	A	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:38740040G>A	uc003ciq.1	-	c.3237C>T	c.(3235-3237)GAC>GAT	p.D1079D		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1079					sensory perception	voltage-gated sodium channel complex				ovary(5)|large_intestine(1)|kidney(1)|skin(1)	8					Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)									0.277778	23.832941	25.43375	10	26	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Silent	SNP	38740040	38740040	14394	3	G	A	A	40	40	SCN10A	A	1	1
SCN10A	6336	broad.mit.edu	36	3	38745228	38745228	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:38745228G>A	uc003ciq.1	-	c.2449C>T	c.(2449-2451)CGA>TGA	p.R817*		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	817	II.				sensory perception	voltage-gated sodium channel complex		p.R817*(1)		ovary(5)|large_intestine(1)|kidney(1)|skin(1)	8					Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)									0.364407	128.59694	130.503785	43	75	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Nonsense_Mutation	SNP	38745228	38745228	14394	3	G	A	A	39	39	SCN10A	A	5	1
EPHA6	285220	broad.mit.edu	36	3	98189215	98189215	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:98189215C>T	uc010how.1	+	c.802C>T	c.(802-804)CGT>TGT	p.R268C	EPHA6_uc003drp.1_Missense_Mutation_p.R268C	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	173	Ephrin-binding.|Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity	p.R174C(1)		central_nervous_system(3)|lung(3)|stomach(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	12									p.R268C(VCAP-Tumor)|p.R268C(RERFLCAD2-Tumor)	480				0.459854	588.6416	589.217253	189	222	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	98189215	98189215	5364	3	C	T	T	31	31	EPHA6	T	1	1
TMEM156	80008	broad.mit.edu	36	4	38676772	38676772	+	Missense_Mutation	SNP	G	A	A	rs13118782	by-hapmap	TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:38676772G>A	uc003gto.1	-	c.241C>T	c.(241-243)CGT>TGT	p.R81C	TMEM156_uc010ifj.1_Missense_Mutation_p.R81C	NM_024943	NP_079219	Q8N614	TM156_HUMAN	transmembrane protein 156	81	Extracellular (Potential).					integral to membrane					0														0.311475	53.403849	55.333765	19	42	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38676772	38676772	16606	4	G	A	A	37	37	TMEM156	A	1	1
SLC27A6	28965	broad.mit.edu	36	5	128330120	128330120	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:128330120G>A	uc003kuy.1	+	c.391G>A	c.(391-393)GTG>ATG	p.V131M	SLC27A6_uc003kuz.1_Missense_Mutation_p.V131M	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid	131	Helical; (Potential).				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding				0		all_cancers(142;0.0483)|Prostate(80;0.055)												0.422222	53.909692	54.14849	19	26	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	Missense_Mutation	SNP	128330120	128330120	15027	5	G	A	A	40	40	SLC27A6	A	1	1
ABLIM3	22885	broad.mit.edu	36	5	148618047	148618047	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:148618047C>T	uc003lpy.2	+	c.1939C>T	c.(1939-1941)CGC>TGC	p.R647C	ABLIM3_uc003lpz.1_Missense_Mutation_p.R647C|ABLIM3_uc003lqa.1_Missense_Mutation_p.R544C|ABLIM3_uc003lqb.2_Intron|ABLIM3_uc003lqc.1_Missense_Mutation_p.R614C|ABLIM3_uc003lqd.1_Missense_Mutation_p.R552C|ABLIM3_uc003lqf.2_Intron|ABLIM3_uc003lqe.1_Missense_Mutation_p.R536C	NM_014945	NP_055760	O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	647	HP.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			ovary(2)	2														0.389831	64.409909	65.037718	23	36	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	148618047	148618047	97	5	C	T	T	27	27	ABLIM3	T	1	1
DOCK2	1794	broad.mit.edu	36	5	169041363	169041363	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:169041363G>A	uc003maf.1	+	c.508G>A	c.(508-510)GGA>AGA	p.G170R		NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	170					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)												0.371257	190.521554	192.947635	62	105	GG		KEEP	---	---	---	---	capture	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Missense_Mutation	SNP	169041363	169041363	4871	5	G	A	A	39	39	DOCK2	A	1	1
RAI14	26064	broad.mit.edu	36	5	34859592	34859592	+	Missense_Mutation	SNP	A	G	G			TCGA-06-0137-01	TCGA-06-0137-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:34859592A>G	uc003jir.1	+	c.1888A>G	c.(1888-1890)ATG>GTG	p.M630V	RAI14_uc010iur.1_Missense_Mutation_p.M601V|RAI14_uc003jis.1_Missense_Mutation_p.M633V|RAI14_uc003jit.1_Missense_Mutation_p.M630V	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	630	Potential.					cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)													0.443038	103.514637	103.737488	35	44	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34859592	34859592	13468	5	A	G	G	8	8	RAI14	G	4	4
UGT3A2	167127	broad.mit.edu	36	5	36071723	36071723	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:36071723G>A	uc003jjz.1	-	c.1406C>T	c.(1405-1407)ACG>ATG	p.T469M	UGT3A1_uc003jjx.1_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide	469	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|large_intestine(1)|pancreas(1)	4	all_lung(31;0.000179)													0.395833	54.412593	54.868909	19	29	GG		KEEP	---	---	---	---	capture	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		Missense_Mutation	SNP	36071723	36071723	17522	5	G	A	A	40	40	UGT3A2	A	1	1
HEATR7B2	133558	broad.mit.edu	36	5	41103008	41103008	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:41103008G>A	uc003jmj.2	-	c.160C>T	c.(160-162)CGA>TGA	p.R54*		NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	54	HEAT 1.						binding			ovary(6)|central_nervous_system(2)	8														0.25	7.61926	8.300984	3	9	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	41103008	41103008	7318	5	G	A	A	40	40	HEATR7B2	A	5	1
FOXC1	2296	broad.mit.edu	36	6	1557236	1557236	+	Missense_Mutation	SNP	C	A	A			TCGA-06-0137-01	TCGA-06-0137-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:1557236C>A	uc003mtp.1	+	c.1557C>A	c.(1555-1557)AAC>AAA	p.N519K		NM_001453	NP_001444	Q12948	FOXC1_HUMAN	forkhead box C1	519					anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of gene-specific transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(1)	1	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)				Pancreas(133;719 1821 3197 26645 35015)								0.375	8.622982	8.732726	3	5	CC		KEEP	---	---	---	---	capture		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)	Missense_Mutation	SNP	1557236	1557236	6236	6	C	A	A	17	17	FOXC1	A	3	3
HCRTR2	3062	broad.mit.edu	36	6	55227993	55227993	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:55227993G>A	uc003pcl.1	+	c.503G>A	c.(502-504)CGG>CAG	p.R168Q	HCRTR2_uc010jzv.1_Non-coding_Transcript|HCRTR2_uc010jzw.1_Missense_Mutation_p.R103Q	NM_001526	NP_001517	O43614	OX2R_HUMAN	orexin receptor 2	168	Cytoplasmic (Potential).				feeding behavior	integral to plasma membrane	neuropeptide receptor activity			ovary(2)	2	Lung NSC(77;0.107)|Renal(3;0.122)													0.380531	132.41758	133.824918	43	70	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(124;0.23)		Missense_Mutation	SNP	55227993	55227993	7285	6	G	A	A	39	39	HCRTR2	A	1	1
ZNF292	23036	broad.mit.edu	36	6	88024010	88024010	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:88024010G>C	uc003plm.2	+	c.3944G>C	c.(3943-3945)GGT>GCT	p.G1315A		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	1315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)												0.275862	23.486325	24.79872	8	21	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0199)	Missense_Mutation	SNP	88024010	88024010	18418	6	G	C	C	44	44	ZNF292	C	3	3
ATP6V0A4	50617	broad.mit.edu	36	7	138091003	138091003	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:138091003C>T	uc003vuf.1	-	c.787G>A	c.(787-789)GTC>ATC	p.V263I	ATP6V0A4_uc003vug.1_Missense_Mutation_p.V263I|ATP6V0A4_uc003vuh.1_Missense_Mutation_p.V263I	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	263	Cytoplasmic (Potential).				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1														0.308511	76.730834	79.808651	29	65	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	138091003	138091003	1189	7	C	T	T	19	19	ATP6V0A4	T	1	1
OGDH	4967	broad.mit.edu	36	7	44703168	44703168	+	Silent	SNP	C	T	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:44703168C>T	uc003tln.1	+	c.2031C>T	c.(2029-2031)GAC>GAT	p.D677D	OGDH_uc003tlo.1_Silent_p.D510D|OGDH_uc003tlp.1_Silent_p.D510D	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase	677					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			ovary(1)	1					NADH(DB00157)									0.419753	97.321818	97.779664	34	47	CC		KEEP	---	---	---	---	capture			Silent	SNP	44703168	44703168	11244	7	C	T	T	19	19	OGDH	T	1	1
KCNV1	27012	broad.mit.edu	36	8	111053698	111053698	+	Missense_Mutation	SNP	G	T	T			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:111053698G>T	uc003ynr.2	-	c.956C>A	c.(955-957)GCT>GAT	p.A319D	KCNV1_uc010mcw.1_Missense_Mutation_p.A319D	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	319	Helical; Voltage-sensor; Name=Segment S4; (Potential).					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)													0.314286	58.560407	60.689598	22	48	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		Missense_Mutation	SNP	111053698	111053698	8399	8	G	T	T	34	34	KCNV1	T	3	3
CSMD3	114788	broad.mit.edu	36	8	114057387	114057387	+	Silent	SNP	C	T	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:114057387C>T	uc003ynu.1	-	c.1197G>A	c.(1195-1197)ACG>ACA	p.T399T	CSMD3_uc003ynt.1_Silent_p.T359T|CSMD3_uc003ynv.1_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	399	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.434389	295.472306	296.300646	96	125	CC		KEEP	---	---	---	---	capture			Silent	SNP	114057387	114057387	4087	8	C	T	T	31	31	CSMD3	T	1	1
DLGAP2	9228	broad.mit.edu	36	8	1485112	1485112	+	Silent	SNP	C	T	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:1485112C>T	uc003wpl.1	+	c.846C>T	c.(844-846)GAC>GAT	p.D282D	DLGAP2_uc003wpm.1_Silent_p.D282D	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	361					nerve-nerve synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)												0.363636	44.598961	45.314069	16	28	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	Silent	SNP	1485112	1485112	4740	8	C	T	T	19	19	DLGAP2	T	1	1
ZNF704	619279	broad.mit.edu	36	8	81762184	81762184	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:81762184G>T	uc003yby.1	-	c.390C>A	c.(388-390)TAC>TAA	p.Y130*		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	130						intracellular	zinc ion binding				0	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)											OREG0018841	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.277778	8.546923	9.365315	5	13	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)		Nonsense_Mutation	SNP	81762184	81762184	18702	8	G	T	T	36	36	ZNF704	T	5	3
GABBR2	9568	broad.mit.edu	36	9	100275300	100275300	+	Silent	SNP	G	A	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:100275300G>A	uc004ays.1	-	c.948C>T	c.(946-948)GGC>GGT	p.G316G		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51	316	Extracellular (Potential).				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)									0.439394	85.078595	85.286719	29	37	GG		KEEP	---	---	---	---	capture			Silent	SNP	100275300	100275300	6407	9	G	A	A	38	38	GABBR2	A	1	1
TSC1	7248	broad.mit.edu	36	9	134794045	134794045	+	Silent	SNP	G	T	T			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:134794045G>T	uc004cca.1	-	c.36C>A	c.(34-36)GCC>GCA	p.A12A	TSC1_uc004ccb.2_Silent_p.A12A|TSC1_uc004ccc.1_Silent_p.A12A|TSC1_uc004ccd.1_Silent_p.A12A|TSC1_uc004cce.1_Silent_p.A12A	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1	12					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.A12A(1)		lung(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|ovary(1)|bone(1)	9										536				0.265625	88.895488	95.246859	34	94	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	Silent	SNP	134794045	134794045	17156	9	G	T	T	47	47	TSC1	T	3	3
NOTCH1	4851	broad.mit.edu	36	9	138538067	138538067	+	Missense_Mutation	SNP	T	G	G			TCGA-06-0137-01	TCGA-06-0137-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:138538067T>G	uc004chz.1	-	c.326A>C	c.(325-327)AAC>ACC	p.N109T		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	109	Extracellular (Potential).|EGF-like 3.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of gene-specific transcription|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(781)|lung(11)|central_nervous_system(10)|breast(4)|upper_aerodigestive_tract(1)|large_intestine(1)|oesophagus(1)|pancreas(1)	810	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)								1552				0.428571	7.724479	7.826337	6	8	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	Missense_Mutation	SNP	138538067	138538067	10950	9	T	G	G	60	60	NOTCH1	G	4	4
ODZ1	10178	broad.mit.edu	36	X	123382071	123382071	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:123382071C>T	uc010nqy.1	-	c.4753G>A	c.(4753-4755)GCG>ACG	p.A1585T	ODZ1_uc004euj.1_Missense_Mutation_p.A1578T	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1	1578	YD 2.|Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	22										623				0.464646	135.936274	136.044312	46	53	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	123382071	123382071	11239	23	C	T	T	27	27	ODZ1	T	1	1
MAGEA1	4100	broad.mit.edu	36	X	152135694	152135694	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152135694G>A	uc004fhf.2	-	c.511C>T	c.(511-513)CTT>TTT	p.L171F	MAGEA1_uc010nub.1_Missense_Mutation_p.L171F	NM_004988	NP_004979	P43355	MAGA1_HUMAN	melanoma antigen family A, 1	171	MAGE.					cytoplasm|plasma membrane		p.L171F(1)		central_nervous_system(7)|ovary(1)|lung(1)|breast(1)	10	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.419355	330.850989	332.260114	104	144	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152135694	152135694	9540	23	G	A	A	35	35	MAGEA1	A	2	2
RPL10	6134	broad.mit.edu	36	X	153284843	153284843	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:153284843G>A	uc004fkr.1	+	c.313G>A	c.(313-315)GTA>ATA	p.V105I	RPL10_uc004fkq.1_Non-coding_Transcript|DNASE1L1_uc004fks.1_Silent_p.Y162Y|DNASE1L1_uc004fkt.1_Silent_p.Y162Y|DNASE1L1_uc004fku.1_Silent_p.Y162Y|DNASE1L1_uc004fkv.1_Silent_p.Y162Y|DNASE1L1_uc004fkw.1_Silent_p.Y162Y	NM_006013	NP_006004	P27635	RL10_HUMAN	ribosomal protein L10	Error:Variant_position_missing_in_P27635_after_alignment					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)													0.45933	288.382872	288.683025	96	113	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	153284843	153284843	14033	23	G	A	A	40	40	RPL10	A	1	1
CDKL5	6792	broad.mit.edu	36	X	18574049	18574049	+	Silent	SNP	C	T	T			TCGA-06-0137-01	TCGA-06-0137-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:18574049C>T	uc004cym.1	+	c.2715C>T	c.(2713-2715)GAC>GAT	p.D905D	CDKL5_uc004cyn.1_Silent_p.D905D|RS1_uc004cyo.1_Intron	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	905					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	p.D905D(1)		ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5	Hepatocellular(33;0.183)									244				0.297619	65.838744	68.916746	25	59	CC		KEEP	---	---	---	---	capture			Silent	SNP	18574049	18574049	3286	23	C	T	T	19	19	CDKL5	T	1	1
DIAPH2	1730	broad.mit.edu	36	X	96571383	96571383	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0137-01	TCGA-06-0137-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:96571383G>A	uc004efu.2	+	c.3224G>A	c.(3223-3225)CGG>CAG	p.R1075Q	DIAPH2_uc004eft.2_Missense_Mutation_p.R1075Q	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	1075	Arg/Lys-rich (basic).|DAD.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4														0.508197	101.106433	101.109671	31	30	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	96571383	96571383	4698	23	G	A	A	39	39	DIAPH2	A	1	1
ABCD2	225	broad.mit.edu	36	12	38298804	38298805	+	Frame_Shift_Ins	INS	-	A	A			TCGA-06-0137-01	TCGA-06-0137-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:38298804_38298805insA	uc001rmb.2	-	c.880_881insT	c.(880-882)TATfs	p.Y294fs		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D, member 2	294	ABC transmembrane type-1.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.38			90	148				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	38298804	38298805	62	12	-	A	A	49	49	ABCD2	A	5	5
ZCCHC3	85364	broad.mit.edu	36	20	226688	226690	+	In_Frame_Del	DEL	CGG	-	-			TCGA-06-0137-01	TCGA-06-0137-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:226688_226690delCGG	uc002wdf.1	+	c.461_463delCGG	c.(460-465)CCGGCG>CCG	p.A158del	ZCCHC3_uc002wdg.2_Intron	NM_033089	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	158	Poly-Ala.						nucleic acid binding|zinc ion binding				0		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)											0.61			11	7				---	---	---	---	capture_indel			In_Frame_Del	DEL	226688	226690	18177	20	CGG	-	-	23	23	ZCCHC3	-	5	5
TLR6	10333	broad.mit.edu	36	4	38506827	38506827	+	Frame_Shift_Del	DEL	C	-	-			TCGA-06-0137-01	TCGA-06-0137-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:38506827_38506827delC	uc003gtm.2	-	c.663_663delG	c.(661-663)GGGfs	p.G221fs	TLR6_uc010ifg.1_Frame_Shift_Del_p.G221fs|TLR6_uc010ifh.1_Frame_Shift_Del_p.G221fs	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	221	Extracellular (Potential).				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			ovary(2)	2														0.36			38	67				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	38506827	38506827	16485	4	C	-	-	18	18	TLR6	-	5	5
PCLO	27445	broad.mit.edu	36	7	82601563	82601563	+	Frame_Shift_Del	DEL	G	-	-			TCGA-06-0137-01	TCGA-06-0137-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:82601563_82601563delG	uc003uhx.2	-	c.3239_3239delC	c.(3238-3240)ACTfs	p.T1080fs	PCLO_uc003uhv.2_Frame_Shift_Del_p.T1080fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1026	C4-type (Potential).				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity|zinc ion binding			ovary(7)	7														0.33			9	18				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	82601563	82601563	12003	7	G	-	-	36	36	PCLO	-	5	5
