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
USP6NL	9712	broad.mit.edu	37	10	11531201	11531201	+	Silent	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:11531201C>A	uc001iks.1	-	c.615G>T	c.(613-615)GGG>GGT	p.G205G	USP6NL_uc001ikt.3_Silent_p.G188G	NM_001080491	NP_001073960	Q92738	US6NL_HUMAN	USP6 N-terminal like isoform 2	188	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0														0.298969	71.835213	75.340241	29	68	KEEP	---	---	---	---	capture		Silent	SNP	11531201	11531201	17651	10	C	A	A	A	379	30	USP6NL	2	2
ABLIM1	3983	broad.mit.edu	37	10	116197683	116197683	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:116197683T>A	uc010qsg.1	-	c.2143A>T	c.(2143-2145)ATA>TTA	p.I715L	ABLIM1_uc010qsh.1_Missense_Mutation_p.I683L|ABLIM1_uc010qsi.1_Missense_Mutation_p.I655L|ABLIM1_uc010qsf.1_Missense_Mutation_p.I392L	NM_002313	NP_002304	O14639	ABLM1_HUMAN	actin-binding LIM protein 1 isoform a	715	HP.				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(1)	1		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)										0.177215	54.333293	69.819675	28	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116197683	116197683	95	10	T	A	A	A	650	50	ABLIM1	3	3
SLC18A2	6571	broad.mit.edu	37	10	119015006	119015006	+	Silent	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:119015006G>T	uc001ldd.1	+	c.807G>T	c.(805-807)GTG>GTT	p.V269V	SLC18A2_uc009xyy.1_Silent_p.V66V	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine),	269	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity				0		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)									0.194444	25.977135	32.201921	14	58	KEEP	---	---	---	---	capture		Silent	SNP	119015006	119015006	14922	10	G	T	T	T	587	46	SLC18A2	2	2
FAM196A	642938	broad.mit.edu	37	10	128973656	128973656	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:128973656G>C	uc001lju.1	-	c.1004C>G	c.(1003-1005)CCT>CGT	p.P335R	DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.P335R|FAM196A_uc001ljv.1_Missense_Mutation_p.P335R|FAM196A_uc009yap.1_Missense_Mutation_p.P335R	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	hypothetical protein LOC642938	335										ovary(2)	2														0.18107	90.026668	113.302048	44	199	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128973656	128973656	5740	10	G	C	C	C	455	35	FAM196A	3	3
PFKFB3	5209	broad.mit.edu	37	10	6268204	6268204	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:6268204C>T	uc010qaw.1	+	c.1433C>T	c.(1432-1434)CCG>CTG	p.P478L	PFKFB3_uc001ijd.2_Missense_Mutation_p.P444L|PFKFB3_uc009xii.2_Non-coding_Transcript|PFKFB3_uc001ije.2_Missense_Mutation_p.P464L|PFKFB3_uc001ijf.2_Missense_Mutation_p.P464L|PFKFB3_uc001ijg.2_Non-coding_Transcript|PFKFB3_uc009xij.2_Non-coding_Transcript|PFKFB3_uc009xik.2_Non-coding_Transcript|PFKFB3_uc009xil.2_Intron	NM_001145443	NP_001138915	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,	464	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(2)|central_nervous_system(1)	3														0.123457	12.753635	23.94018	10	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6268204	6268204	12184	10	C	T	T	T	299	23	PFKFB3	1	1
MYPN	84665	broad.mit.edu	37	10	69881917	69881917	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:69881917C>A	uc001jnm.3	+	c.722C>A	c.(721-723)GCT>GAT	p.A241D	MYPN_uc001jnl.1_Missense_Mutation_p.A241D|MYPN_uc001jnn.3_Intron|MYPN_uc001jno.3_Missense_Mutation_p.A241D|MYPN_uc001jnp.1_Missense_Mutation_p.A241D|MYPN_uc009xps.2_Missense_Mutation_p.A241D|MYPN_uc009xpt.2_Missense_Mutation_p.A241D|MYPN_uc010qit.1_De_novo_Start_OutOfFrame|MYPN_uc010qiu.1_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	myopalladin	241	Potential.|Interaction with CARP.					nucleus|sarcomere	actin binding			ovary(3)	3														0.229167	25.997921	29.22831	11	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69881917	69881917	10493	10	C	A	A	A	364	28	MYPN	2	2
CDH23	64072	broad.mit.edu	37	10	73574861	73574861	+	Silent	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:73574861C>T	uc001jrx.3	+	c.9891C>T	c.(9889-9891)CTC>CTT	p.L3297L	CDH23_uc001jsg.3_Silent_p.L1057L|CDH23_uc001jsh.3_Silent_p.L1022L|CDH23_uc001jsi.3_Silent_p.L1022L|CDH23_uc001jsj.3_Silent_p.L194L|CDH23_uc010qjr.1_Silent_p.L159L	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	3297	Cytoplasmic (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11														0.166667	5.012775	6.91045	3	15	KEEP	---	---	---	---	capture		Silent	SNP	73574861	73574861	3237	10	C	T	T	T	366	29	CDH23	2	2
KCNMA1	3778	broad.mit.edu	37	10	78704598	78704598	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:78704598C>A	uc001jxn.2	-	c.2835G>T	c.(2833-2835)TTG>TTT	p.L945F	KCNMA1_uc001jxj.2_Missense_Mutation_p.L891F|KCNMA1_uc001jxk.1_Missense_Mutation_p.L563F|KCNMA1_uc009xrt.1_Missense_Mutation_p.L736F|KCNMA1_uc001jxl.1_Missense_Mutation_p.L570F|KCNMA1_uc001jxo.2_Missense_Mutation_p.L928F|KCNMA1_uc001jxm.2_Missense_Mutation_p.L887F|KCNMA1_uc001jxq.2_Missense_Mutation_p.L890F	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	945	Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|catalytic activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)									0.178571	31.573528	39.742187	15	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78704598	78704598	8378	10	C	A	A	A	272	21	KCNMA1	2	2
POLR3A	11128	broad.mit.edu	37	10	79781687	79781687	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:79781687C>A	uc001jzn.2	-	c.979G>T	c.(979-981)GGC>TGC	p.G327C		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	327					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)											0.204819	36.22344	42.944623	17	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79781687	79781687	12656	10	C	A	A	A	286	22	POLR3A	2	2
FAM22A	728118	broad.mit.edu	37	10	88994213	88994213	+	Silent	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:88994213G>A	uc001kek.2	+	c.2385G>A	c.(2383-2385)CAG>CAA	p.Q795Q	LOC728190_uc009xtc.2_Intron|LOC728190_uc009xtd.2_Intron	NM_001099338	NP_001092808	Q8IVF1	FA22A_HUMAN	hypothetical protein LOC728118	795											0														0.264706	25.358851	27.060675	9	25	KEEP	---	---	---	---	capture		Silent	SNP	88994213	88994213	5758	10	G	A	A	A	451	35	FAM22A	2	2
C10orf12	26148	broad.mit.edu	37	10	98741739	98741739	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:98741739G>C	uc001kmv.2	+	c.592G>C	c.(592-594)GGT>CGT	p.G198R	C10orf12_uc009xvg.1_Missense_Mutation_p.G508R	NM_015652	NP_056467	Q8N655	CJ012_HUMAN	hypothetical protein LOC26148	198											0		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)										0.188525	52.287949	63.465277	23	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98741739	98741739	1624	10	G	C	C	C	611	47	C10orf12	3	3
SLIT1	6585	broad.mit.edu	37	10	98807553	98807553	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:98807553C>A	uc001kmw.2	-	c.1528G>T	c.(1528-1530)GAC>TAC	p.D510Y	SLIT1_uc009xvh.1_Missense_Mutation_p.D520Y	NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	510	LRRNT 3.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			ovary(4)	4		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)										0.130435	18.947269	31.159903	12	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98807553	98807553	15237	10	C	A	A	A	403	31	SLIT1	1	1
SLN	6588	broad.mit.edu	37	11	107578577	107578577	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:107578577C>A	uc001pjp.2	-	c.80G>T	c.(79-81)AGG>ATG	p.R27M		NM_003063	NP_003054	O00631	SARCO_HUMAN	sarcolipin	27					calcium ion transport|regulation of calcium ion transport	integral to membrane|sarcoplasmic reticulum membrane	enzyme regulator activity				0		Melanoma(852;1.46e-05)|all_epithelial(67;1.72e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;2.71e-05)|Epithelial(105;0.000112)|all cancers(92;0.00219)										0.094118	2.532867	16.612232	8	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107578577	107578577	15250	11	C	A	A	A	312	24	SLN	2	2
MUC2	4583	broad.mit.edu	37	11	1080968	1080968	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1080968C>A	uc001lsx.1	+	c.1352C>A	c.(1351-1353)GCT>GAT	p.A451D		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	451	VWFD 2.					inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)									0.129412	13.761169	25.132355	11	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1080968	1080968	10369	11	C	A	A	A	364	28	MUC2	2	2
DRD2	1813	broad.mit.edu	37	11	113285167	113285168	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:113285167_113285168GG>TT	uc001pnz.2	-	c.739_740CC>AA	c.(739-741)CCC>AAC	p.P247N	DRD2_uc010rwv.1_Missense_Mutation_p.P246N|DRD2_uc001poa.3_Missense_Mutation_p.P247N|DRD2_uc001pob.3_Intron|DRD2_uc009yyr.1_Missense_Mutation_p.P247N	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	247	Cytoplasmic (By similarity).|Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|diuresis|dopamine metabolic process|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|natriuresis|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane|integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)	1		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)					215				0.15873	83.231747	111.204122	40	212	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	113285167	113285168	4941	11	GG	TT	TT	TT	559	43	DRD2	2	2
FEZ1	9638	broad.mit.edu	37	11	125359482	125359482	+	Silent	SNP	A	G	G			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:125359482A>G	uc001qbx.2	-	c.192T>C	c.(190-192)AAT>AAC	p.N64N	FEZ1_uc010sbc.1_Silent_p.N64N|FEZ1_uc001qby.1_Silent_p.N64N	NM_005103	NP_005094	Q99689	FEZ1_HUMAN	zygin 1 isoform 1	64					axon guidance|cell adhesion|transport	microtubule|plasma membrane				central_nervous_system(3)|ovary(1)	4	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		Melanoma(180;509 2033 10762 15939 24711)								0.149254	41.614883	57.422648	20	114	KEEP	---	---	---	---	capture		Silent	SNP	125359482	125359482	6060	11	A	G	G	G	102	8	FEZ1	4	4
VPS26B	112936	broad.mit.edu	37	11	134095068	134095068	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:134095068G>T	uc001qhe.2	+	c.52G>T	c.(52-54)GAT>TAT	p.D18Y	NCAPD3_uc001qhd.1_5'Flank|NCAPD3_uc010scm.1_5'Flank|NCAPD3_uc009zda.1_5'Flank|NCAPD3_uc010scn.1_5'Flank	NM_052875	NP_443107	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B	18					protein transport|vacuolar transport	cytosol|retromer complex					0	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		Colon(171;1263 1952 15904 45703 47982)								0.048387	-6.812285	6.618339	3	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134095068	134095068	17765	11	G	T	T	T	481	37	VPS26B	1	1
PTH	5741	broad.mit.edu	37	11	13514017	13514017	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:13514017C>T	uc001mlb.2	-	c.283G>A	c.(283-285)GAA>AAA	p.E95K		NM_000315	NP_000306	P01270	PTHY_HUMAN	parathyroid hormone preproprotein	95					bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|skeletal system development		hormone activity|peptide hormone receptor binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)										0.140845	13.995347	22.844044	10	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13514017	13514017	13212	11	C	T	T	T	377	29	PTH	2	2
PLEKHA7	144100	broad.mit.edu	37	11	16872832	16872832	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:16872832C>A	uc010rcu.1	-	c.602G>T	c.(601-603)CGA>CTA	p.R201L	PLEKHA7_uc001mmo.2_Missense_Mutation_p.R201L	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A	201	PH.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			skin(1)	1														0.163636	36.501062	48.308572	18	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16872832	16872832	12487	11	C	A	A	A	403	31	PLEKHA7	1	1
RPS13	6207	broad.mit.edu	37	11	17099024	17099025	+	Splice_Site_DNP	DNP	CC	AA	AA			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:17099024_17099025CC>AA	uc001mmp.2	-	c.24_splice	c.e2-1	p.G8_splice		NM_001017	NP_001008			ribosomal protein S13						endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome				0														0.125	5.075938	9.47408	4	28	KEEP	---	---	---	---	capture		Splice_Site_DNP	DNP	17099024	17099025	14102	11	CC	AA	AA	AA	379	30	RPS13	5	2
IGSF22	283284	broad.mit.edu	37	11	18740276	18740276	+	Splice_Site_SNP	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:18740276C>A	uc009yht.2	-	c.697_splice	c.e8-1	p.A233_splice	IGSF22_uc001mpa.2_Splice_Site_SNP	NM_173588	NP_775859			immunoglobulin superfamily, member 22											ovary(4)|large_intestine(2)|kidney(1)	7														0.095833	12.029216	51.370629	23	217	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	18740276	18740276	7901	11	C	A	A	A	312	24	IGSF22	5	2
LSP1	4046	broad.mit.edu	37	11	1908758	1908758	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1908758G>T	uc001luj.2	+	c.1369G>T	c.(1369-1371)GAG>TAG	p.E457*	LSP1_uc001lui.2_Nonsense_Mutation_p.E329*|LSP1_uc001luk.2_Nonsense_Mutation_p.E267*|LSP1_uc001lul.2_Nonsense_Mutation_p.E267*|LSP1_uc001lum.2_Nonsense_Mutation_p.E267*	NM_001013255	NP_001013273	P33241	LSP1_HUMAN	lymphocyte-specific protein 1 isoform 2	329					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity			large_intestine(1)	1		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)						91				0.144444	18.508654	29.468439	13	77	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	1908758	1908758	9439	11	G	T	T	T	585	45	LSP1	5	2
NAT10	55226	broad.mit.edu	37	11	34160792	34160792	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:34160792G>T	uc001mvk.2	+	c.2266G>T	c.(2266-2268)GAT>TAT	p.D756Y	NAT10_uc010ren.1_Missense_Mutation_p.D684Y	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 isoform a	756	Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)												0.15	30.092957	46.53256	21	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34160792	34160792	10570	11	G	T	T	T	533	41	NAT10	2	2
CAT	847	broad.mit.edu	37	11	34478335	34478335	+	Missense_Mutation	SNP	A	G	G			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:34478335A>G	uc001mvm.2	+	c.1027A>G	c.(1027-1029)ATT>GTT	p.I343V	CAT_uc009ykc.1_Non-coding_Transcript	NM_001752	NP_001743	P04040	CATA_HUMAN	catalase	343					hydrogen peroxide catabolic process|negative regulation of apoptosis|oxidation-reduction process|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			ovary(2)|pancreas(1)	3		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)									0.135802	20.476122	30.876841	11	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34478335	34478335	2805	11	A	G	G	G	104	8	CAT	4	4
TTC17	55761	broad.mit.edu	37	11	43413371	43413371	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:43413371G>T	uc001mxi.2	+	c.532G>T	c.(532-534)GGT>TGT	p.G178C	TTC17_uc001mxh.2_Missense_Mutation_p.G178C|TTC17_uc010rfj.1_Missense_Mutation_p.G121C	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	178							binding			ovary(5)	5														0.052632	-9.364477	6.714514	4	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43413371	43413371	17238	11	G	T	T	T	559	43	TTC17	2	2
OR52K2	119774	broad.mit.edu	37	11	4470913	4470913	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4470913C>A	uc001lyz.1	+	c.344C>A	c.(343-345)GCA>GAA	p.A115E		NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K,	115	Helical; Name=3; (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;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.042553	-12.984411	8.1298	4	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4470913	4470913	11534	11	C	A	A	A	325	25	OR52K2	2	2
OR51M1	390059	broad.mit.edu	37	11	5411262	5411262	+	Silent	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5411262C>T	uc010qzc.1	+	c.634C>T	c.(634-636)CTG>TTG	p.L212L	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M,	212						integral to membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.216981	57.96525	65.796718	23	83	KEEP	---	---	---	---	capture		Silent	SNP	5411262	5411262	11513	11	C	T	T	T	259	20	OR51M1	2	2
UBQLN3	50613	broad.mit.edu	37	11	5529464	5529464	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5529464G>C	uc001may.1	-	c.1325C>G	c.(1324-1326)CCT>CGT	p.P442R	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	442										ovary(3)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		Ovarian(72;684 1260 12332 41642 52180)								0.123288	28.243172	48.516652	18	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5529464	5529464	17456	11	G	C	C	C	455	35	UBQLN3	3	3
OR5M1	390168	broad.mit.edu	37	11	56380709	56380709	+	Silent	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56380709C>T	uc001nja.1	-	c.270G>A	c.(268-270)AAG>AAA	p.K90K		NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M,	90	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1														0.164384	22.756056	30.562865	12	61	KEEP	---	---	---	---	capture		Silent	SNP	56380709	56380709	11582	11	C	T	T	T	415	32	OR5M1	2	2
OR9Q2	219957	broad.mit.edu	37	11	57958429	57958429	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57958429C>A	uc010rka.1	+	c.467C>A	c.(466-468)GCC>GAC	p.A156D		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q,	156	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)|central_nervous_system(1)	4		Breast(21;0.0589)												0.15	28.976503	43.0674	18	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57958429	57958429	11667	11	C	A	A	A	338	26	OR9Q2	2	2
OR4D11	219986	broad.mit.edu	37	11	59271767	59271767	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59271767G>T	uc001noa.1	+	c.719G>T	c.(718-720)TGC>TTC	p.C240F		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D,	240	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2														0.103933	27.232125	82.824216	37	319	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59271767	59271767	11462	11	G	T	T	T	598	46	OR4D11	2	2
OR56A3	390083	broad.mit.edu	37	11	5969145	5969145	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5969145G>T	uc010qzt.1	+	c.569G>T	c.(568-570)AGA>ATA	p.R190I		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A,	190	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.118056	16.962956	37.621647	17	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5969145	5969145	11544	11	G	T	T	T	429	33	OR56A3	2	2
PLAC1L	219990	broad.mit.edu	37	11	59807963	59807963	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59807963G>C	uc001nol.2	+	c.31G>C	c.(31-33)GTC>CTC	p.V11L		NM_173801	NP_776162	Q86WS3	PLACL_HUMAN	placenta-specific 1-like precursor	11						extracellular region				ovary(2)	2														0.117647	34.134104	56.122299	18	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59807963	59807963	12439	11	G	C	C	C	624	48	PLAC1L	3	3
MS4A5	64232	broad.mit.edu	37	11	60197159	60197159	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60197159C>A	uc001npo.2	+	c.12C>A	c.(10-12)AGC>AGA	p.S4R		NM_023945	NP_076434	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member	4	Cytoplasmic (Potential).					integral to membrane	receptor activity			large_intestine(1)|ovary(1)	2														0.146341	50.398246	75.078057	30	175	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60197159	60197159	10256	11	C	A	A	A	324	25	MS4A5	2	2
C11orf66	220004	broad.mit.edu	37	11	61252259	61252259	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:61252259G>T	uc001nru.1	+	c.481G>T	c.(481-483)GAC>TAC	p.D161Y	C11orf66_uc009ynq.1_Missense_Mutation_p.D161Y	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	IIIG9 protein	161										ovary(1)	1														0.181818	7.231614	9.290226	4	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61252259	61252259	1695	11	G	T	T	T	533	41	C11orf66	2	2
AHNAK	79026	broad.mit.edu	37	11	62284435	62284435	+	Silent	SNP	C	G	G			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62284435C>G	uc001ntl.2	-	c.17454G>C	c.(17452-17454)GGG>GGC	p.G5818G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	5818					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)	14		Melanoma(852;0.155)												0.15311	73.467786	97.519177	32	177	KEEP	---	---	---	---	capture		Silent	SNP	62284435	62284435	417	11	C	G	G	G	379	30	AHNAK	3	3
EHBP1L1	254102	broad.mit.edu	37	11	65350467	65350467	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65350467G>T	uc001oeo.3	+	c.2324G>T	c.(2323-2325)GGG>GTG	p.G775V	EHBP1L1_uc001oep.1_Intron	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	775	Glu-rich.									central_nervous_system(1)	1														0.145455	11.361548	18.014505	8	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65350467	65350467	5165	11	G	T	T	T	559	43	EHBP1L1	2	2
CATSPER1	117144	broad.mit.edu	37	11	65790348	65790348	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65790348C>A	uc001ogt.2	-	c.1401G>T	c.(1399-1401)CAG>CAT	p.Q467H		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	sperm-associated cation channel 1	467	Extracellular (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			ovary(2)	2												OREG0021092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.040984	-20.138629	7.553016	5	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65790348	65790348	2806	11	C	A	A	A	415	32	CATSPER1	2	2
SF3B2	10992	broad.mit.edu	37	11	65829421	65829421	+	Silent	SNP	A	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65829421A>T	uc001ogy.1	+	c.1929A>T	c.(1927-1929)CCA>CCT	p.P643P		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2	643					interspecies interaction between organisms|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3														0.102564	3.971227	10.109315	4	35	KEEP	---	---	---	---	capture		Silent	SNP	65829421	65829421	14640	11	A	T	T	T	93	8	SF3B2	3	3
UCP2	7351	broad.mit.edu	37	11	73686562	73686562	+	Silent	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:73686562C>T	uc001oup.1	-	c.789G>A	c.(787-789)AAG>AAA	p.K263K	UCP2_uc001ouq.1_Intron	NM_003355	NP_003346	P55851	UCP2_HUMAN	uncoupling protein 2	263	Solcar 3.				proton transport|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding				0	Breast(11;0.000112)					Colon(191;388 2040 43557 45622 48925)								0.16875	55.428635	72.04958	27	133	KEEP	---	---	---	---	capture		Silent	SNP	73686562	73686562	17489	11	C	T	T	T	311	24	UCP2	2	2
NLRP10	338322	broad.mit.edu	37	11	7981815	7981815	+	Silent	SNP	A	G	G			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7981815A>G	uc001mfv.1	-	c.1344T>C	c.(1342-1344)AGT>AGC	p.S448S		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	448	NACHT.						ATP binding			lung(4)|ovary(2)|kidney(1)|pancreas(1)	8				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)						109				0.145161	55.078848	77.547572	27	159	KEEP	---	---	---	---	capture		Silent	SNP	7981815	7981815	10875	11	A	G	G	G	180	14	NLRP10	4	4
TYR	7299	broad.mit.edu	37	11	88911297	88911297	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:88911297T>A	uc001pcs.2	+	c.176T>A	c.(175-177)CTT>CAT	p.L59H		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	59	Lumenal, melanosome (Potential).				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|oxidation-reduction process|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)									0.196429	22.291085	27.1024	11	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88911297	88911297	17370	11	T	A	A	A	728	56	TYR	3	3
FAT3	120114	broad.mit.edu	37	11	92533884	92533884	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92533884A>T	uc001pdj.3	+	c.7705A>T	c.(7705-7707)AGT>TGT	p.S2569C		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2569	Cadherin 23.|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)			0.169492	18.615678	24.714118	10	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92533884	92533884	5927	11	A	T	T	T	195	15	FAT3	3	3
CNTN5	53942	broad.mit.edu	37	11	99932110	99932110	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:99932110C>A	uc001pga.2	+	c.1147C>A	c.(1147-1149)CAA>AAA	p.Q383K	CNTN5_uc009ywv.1_Missense_Mutation_p.Q383K|CNTN5_uc001pfz.2_Missense_Mutation_p.Q383K|CNTN5_uc001pgb.2_Missense_Mutation_p.Q309K	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	383	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)						1117				0.27451	38.125759	40.462734	14	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99932110	99932110	3782	11	C	A	A	A	221	17	CNTN5	2	2
CLEC12B	387837	broad.mit.edu	37	12	10168296	10168296	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:10168296G>T	uc001qwz.2	+	c.650G>T	c.(649-651)TGG>TTG	p.W217L	CLEC12B_uc001qwx.1_Missense_Mutation_p.W217L|CLEC12B_uc001qwy.1_Missense_Mutation_p.W114L|CLEC12B_uc009zhe.2_Non-coding_Transcript	NM_001129998	NP_001123470	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B isoform	217	Extracellular (Potential).|C-type lectin.					integral to membrane|plasma membrane	receptor activity|sugar binding				0														0.230769	73.679847	82.317266	30	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10168296	10168296	3635	12	G	T	T	T	611	47	CLEC12B	2	2
SYCP3	50511	broad.mit.edu	37	12	102131692	102131692	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:102131692A>T	uc001tiq.2	-	c.22T>A	c.(22-24)TAT>AAT	p.Y8N	SYCP3_uc001tir.2_Missense_Mutation_p.Y8N|SYCP3_uc001tis.2_Missense_Mutation_p.Y8N	NM_153694	NP_710161	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	8					cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding				0														0.224719	136.734285	155.382455	60	207	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102131692	102131692	15955	12	A	T	T	T	182	14	SYCP3	3	3
ABCB9	23457	broad.mit.edu	37	12	123444365	123444365	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:123444365C>T	uc001udm.3	-	c.418G>A	c.(418-420)GTG>ATG	p.V140M	ABCB9_uc009zxr.2_Intron|ABCB9_uc001udo.3_Missense_Mutation_p.V140M|ABCB9_uc010taj.1_Missense_Mutation_p.V140M|ABCB9_uc001udp.2_Missense_Mutation_p.V140M|ABCB9_uc001udq.2_De_novo_Start_OutOfFrame|ABCB9_uc001udr.2_Missense_Mutation_p.V140M	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	140					positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		Ovarian(49;786 1333 9175 38236)								0.166667	5.515965	7.410561	3	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123444365	123444365	49	12	C	T	T	T	247	19	ABCB9	1	1
ULK1	8408	broad.mit.edu	37	12	132399719	132399719	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:132399719G>T	uc001uje.2	+	c.1465G>T	c.(1465-1467)GTC>TTC	p.V489F		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	489					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)	3	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)						916				0.333333	17.44711	17.888368	6	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132399719	132399719	17533	12	G	T	T	T	520	40	ULK1	1	1
KIAA0528	9847	broad.mit.edu	37	12	22676358	22676358	+	Splice_Site_SNP	SNP	A	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:22676358A>C	uc010sit.1	-	c.800_splice	c.e7+1	p.E267_splice	KIAA0528_uc010sir.1_Splice_Site_SNP_p.E69_splice|KIAA0528_uc010sis.1_Splice_Site_SNP_p.E267_splice|KIAA0528_uc001rfq.2_Splice_Site_SNP_p.E267_splice|KIAA0528_uc010siu.1_Splice_Site_SNP_p.E267_splice|KIAA0528_uc001rfr.2_Splice_Site_SNP_p.E267_splice|KIAA0528_uc009ziy.1_Splice_Site_SNP_p.E267_splice	NM_014802	NP_055617			hypothetical protein LOC9847								protein binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4														0.093333	6.674904	19.139499	7	68	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	22676358	22676358	8489	12	A	C	C	C	182	14	KIAA0528	5	4
IFLTD1	160492	broad.mit.edu	37	12	25702461	25702461	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:25702461C>A	uc010sji.1	-	c.109G>T	c.(109-111)GTA>TTA	p.V37L	IFLTD1_uc001rgs.2_Missense_Mutation_p.V16L|IFLTD1_uc001rgt.1_5'UTR|IFLTD1_uc010sjj.1_Intron|IFLTD1_uc009zjc.2_Missense_Mutation_p.V37L	NM_001145728	NP_001139200	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	16						intermediate filament	structural molecule activity			ovary(2)|central_nervous_system(1)	3	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)													0.084211	-0.381669	16.30758	8	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25702461	25702461	7831	12	C	A	A	A	260	20	IFLTD1	2	2
C12orf11	55726	broad.mit.edu	37	12	27058465	27058465	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:27058465C>G	uc001rhk.3	-	c.2086G>C	c.(2086-2088)GAG>CAG	p.E696Q	C12orf11_uc001rhj.3_Missense_Mutation_p.E264Q|C12orf11_uc010sjk.1_Missense_Mutation_p.E595Q	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	hypothetical protein LOC55726	696					cell division|mitosis|regulation of mitotic cell cycle		protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Colorectal(261;0.0847)													0.125984	31.036388	48.354008	16	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27058465	27058465	1719	12	C	G	G	G	390	30	C12orf11	3	3
FGD4	121512	broad.mit.edu	37	12	32786499	32786499	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:32786499G>T	uc010ske.1	+	c.2114G>T	c.(2113-2115)TGC>TTC	p.C705F	FGD4_uc001rlc.2_Missense_Mutation_p.C678F|FGD4_uc001rky.2_Missense_Mutation_p.C345F|FGD4_uc001rkz.2_Missense_Mutation_p.C593F|FGD4_uc001rla.2_Missense_Mutation_p.C249F|FGD4_uc001rlb.1_Non-coding_Transcript	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	593	FYVE-type.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|small GTPase binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)													0.053571	-5.425532	6.353913	3	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32786499	32786499	6072	12	G	T	T	T	598	46	FGD4	2	2
PKP2	5318	broad.mit.edu	37	12	33031935	33031935	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:33031935C>A	uc001rlj.3	-	c.255G>T	c.(253-255)GAG>GAT	p.E85D	PKP2_uc001rlk.3_Missense_Mutation_p.E85D|PKP2_uc010skj.1_Missense_Mutation_p.E85D	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	85					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)													0.119718	19.771312	39.927994	17	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33031935	33031935	12410	12	C	A	A	A	259	20	PKP2	2	2
LRRK2	120892	broad.mit.edu	37	12	40692296	40692296	+	Splice_Site_SNP	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:40692296G>T	uc001rmg.3	+	c.3347_splice	c.e24+1	p.G1116_splice	LRRK2_uc001rmh.1_Splice_Site_SNP_p.G738_splice|LRRK2_uc009zjw.2_Splice_Site_SNP	NM_198578	NP_940980			leucine-rich repeat kinase 2						activation of MAPKK activity|determination of adult lifespan|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(11)|lung(2)|upper_aerodigestive_tract(1)|large_intestine(1)|stomach(1)|urinary_tract(1)|pancreas(1)	18	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)								1771				0.166667	45.12203	58.374013	21	105	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	40692296	40692296	9409	12	G	T	T	T	572	44	LRRK2	5	2
CNTN1	1272	broad.mit.edu	37	12	41337888	41337888	+	Silent	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:41337888C>A	uc001rmm.1	+	c.1599C>A	c.(1597-1599)GCC>GCA	p.A533A	CNTN1_uc009zjy.1_Silent_p.A533A|CNTN1_uc001rmn.1_Silent_p.A522A|CNTN1_uc001rmo.2_Silent_p.A533A	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	533	Ig-like C2-type 6.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				ovary(3)|lung(2)|large_intestine(1)	6	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)								952				0.295775	55.543256	58.194469	21	50	KEEP	---	---	---	---	capture		Silent	SNP	41337888	41337888	3778	12	C	A	A	A	301	24	CNTN1	2	2
ARID2	196528	broad.mit.edu	37	12	46245363	46245363	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:46245363G>T	uc001ros.1	+	c.3457G>T	c.(3457-3459)GGT>TGT	p.G1153C	ARID2_uc001ror.2_Missense_Mutation_p.G1153C|ARID2_uc009zkg.1_Missense_Mutation_p.G609C|ARID2_uc009zkh.1_Missense_Mutation_p.G780C|ARID2_uc001rou.1_Missense_Mutation_p.G487C	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1153					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(1)	7	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)										0.148387	36.20706	54.626229	23	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46245363	46245363	930	12	G	T	T	T	455	35	ARID2	2	2
ACCN2	41	broad.mit.edu	37	12	50471085	50471085	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:50471085T>A	uc001rvv.2	+	c.648T>A	c.(646-648)AAT>AAA	p.N216K	ACCN2_uc001rvw.2_Missense_Mutation_p.N216K|ACCN2_uc009zln.2_Missense_Mutation_p.N7K|ACCN2_uc009zlo.2_Missense_Mutation_p.N216K	NM_020039	NP_064423	P78348	ACCN2_HUMAN	amiloride-sensitive cation channel 2, neuronal	216	Extracellular (By similarity).				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(1)	1					Amiloride(DB00594)									0.039604	-14.534395	8.504455	4	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50471085	50471085	130	12	T	A	A	A	660	51	ACCN2	3	3
BIN2	51411	broad.mit.edu	37	12	51685619	51685619	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:51685619G>T	uc001ryg.2	-	c.1271C>A	c.(1270-1272)GCA>GAA	p.A424E	BIN2_uc009zlz.2_Missense_Mutation_p.A392E|BIN2_uc001ryh.2_Missense_Mutation_p.A300E|BIN2_uc010sng.1_Missense_Mutation_p.A398E	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	bridging integrator 2	424	Pro-rich.					cytoplasm	protein binding			ovary(1)	1														0.04386	-15.526737	9.881803	5	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51685619	51685619	1458	12	G	T	T	T	598	46	BIN2	2	2
KRT6B	3854	broad.mit.edu	37	12	52841600	52841600	+	Silent	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52841600G>A	uc001sak.2	-	c.1386C>T	c.(1384-1386)ATC>ATT	p.I462I		NM_005555	NP_005546	P04259	K2C6B_HUMAN	keratin 6B	462	Rod.|Coil 2.				ectoderm development	keratin filament	structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.083)										0.06599	-13.138668	25.412172	13	184	KEEP	---	---	---	---	capture		Silent	SNP	52841600	52841600	8796	12	G	A	A	A	473	37	KRT6B	1	1
PDE1B	5153	broad.mit.edu	37	12	54943667	54943667	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:54943667C>A	uc001sgd.1	+	c.11C>A	c.(10-12)TCC>TAC	p.S4Y	PDE1B_uc010soz.1_5'UTR|PDE1B_uc010spa.1_5'Flank	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	phosphodiesterase 1B isoform 1	4					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(1)	1														0.148936	15.878435	27.014464	14	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54943667	54943667	12055	12	C	A	A	A	390	30	PDE1B	2	2
AVPR1A	552	broad.mit.edu	37	12	63544585	63544585	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:63544585G>T	uc001sro.1	-	c.32C>A	c.(31-33)CCC>CAC	p.P11H		NM_000706	NP_000697	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	11	Extracellular (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity				0			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)									0.418182	68.717874	69.038546	23	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63544585	63544585	1252	12	G	T	T	T	559	43	AVPR1A	2	2
COL4A2	1284	broad.mit.edu	37	13	111132690	111132690	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:111132690C>A	uc001vqx.2	+	c.2711C>A	c.(2710-2712)CCT>CAT	p.P904H		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	904	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			central_nervous_system(2)|ovary(1)	3	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)											0.091603	4.243623	26.217723	12	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111132690	111132690	3828	13	C	A	A	A	312	24	COL4A2	2	2
SOX1	6656	broad.mit.edu	37	13	112722333	112722333	+	Silent	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:112722333C>A	uc001vsb.1	+	c.361C>A	c.(361-363)CGG>AGG	p.R121R		NM_005986	NP_005977	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	121					chromatin organization|regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)										0.103448	6.219112	15.288904	6	52	KEEP	---	---	---	---	capture		Silent	SNP	112722333	112722333	15440	13	C	A	A	A	295	23	SOX1	1	1
ATP11A	23250	broad.mit.edu	37	13	113527887	113527887	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:113527887C>G	uc001vsj.3	+	c.3058C>G	c.(3058-3060)CTT>GTT	p.L1020V	ATP11A_uc001vsi.3_Missense_Mutation_p.L1020V|ATP11A_uc010ago.2_Non-coding_Transcript	NM_032189	NP_115565	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform b	1020	Helical; (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)								1064		OREG0003854	type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0.158879	37.506061	49.371742	17	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113527887	113527887	1138	13	C	G	G	G	364	28	ATP11A	3	3
TFDP1	7027	broad.mit.edu	37	13	114287464	114287464	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:114287464G>A	uc001vtw.2	+	c.338G>A	c.(337-339)GGC>GAC	p.G113D	TFDP1_uc010tkd.1_Missense_Mutation_p.G18D|TFDP1_uc010tke.1_Missense_Mutation_p.G18D|TFDP1_uc001vty.3_Missense_Mutation_p.G113D|TFDP1_uc001vtx.2_5'UTR|TFDP1_uc010agx.2_Missense_Mutation_p.G113D	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	transcription factor Dp-1	113	Potential.				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			lung(4)|ovary(2)|skin(1)	7	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)							482	TSP Lung(29;0.18)			0.166667	23.353312	30.939513	12	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114287464	114287464	16325	13	G	A	A	A	546	42	TFDP1	2	2
PARP4	143	broad.mit.edu	37	13	25029154	25029154	+	Splice_Site_SNP	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:25029154C>A	uc001upl.2	-	c.2758_splice	c.e22+1	p.G920_splice	PARP4_uc010tdc.1_Splice_Site_SNP_p.G920_splice	NM_006437	NP_006428			poly (ADP-ribose) polymerase family, member 4						cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			ovary(3)	3		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)										0.112069	31.50461	65.973262	26	206	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	25029154	25029154	11880	13	C	A	A	A	234	18	PARP4	5	2
FAM123A	219287	broad.mit.edu	37	13	25744119	25744119	+	Silent	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:25744119G>T	uc001uqb.2	-	c.1639C>A	c.(1639-1641)CGG>AGG	p.R547R	FAM123A_uc001uqa.2_Silent_p.R428R|FAM123A_uc001uqc.2_Silent_p.R428R	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	547										ovary(2)|large_intestine(1)|lung(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)										0.132075	22.379272	36.316363	14	92	KEEP	---	---	---	---	capture		Silent	SNP	25744119	25744119	5619	13	G	T	T	T	506	39	FAM123A	1	1
TRPC4	7223	broad.mit.edu	37	13	38225593	38225593	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:38225593G>C	uc010abx.2	-	c.1888C>G	c.(1888-1890)CAT>GAT	p.H630D	TRPC4_uc010abv.2_Missense_Mutation_p.H210D|TRPC4_uc001uwt.2_Missense_Mutation_p.H630D|TRPC4_uc001uws.2_Missense_Mutation_p.H630D|TRPC4_uc010tey.1_Missense_Mutation_p.H630D|TRPC4_uc010abw.2_Missense_Mutation_p.H457D|TRPC4_uc010aby.2_Intron	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	630	Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|breast(1)	4				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)										0.060606	-6.784404	13.142313	6	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38225593	38225593	17131	13	G	C	C	C	611	47	TRPC4	3	3
NEK5	341676	broad.mit.edu	37	13	52663447	52663447	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:52663447G>T	uc001vge.2	-	c.1211C>A	c.(1210-1212)CCT>CAT	p.P404H		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	404					protein phosphorylation		ATP binding|metal ion binding|protein serine/threonine kinase activity				0		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)						495				0.228571	18.080631	20.447104	8	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52663447	52663447	10726	13	G	T	T	T	455	35	NEK5	2	2
PCDH8	5100	broad.mit.edu	37	13	53422541	53422541	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:53422541A>T	uc001vhi.2	-	c.31T>A	c.(31-33)TGC>AGC	p.C11S	PCDH8_uc001vhj.2_Missense_Mutation_p.C11S	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	11					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GBM(36;25 841 9273 49207)								0.107527	6.199144	20.40786	10	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53422541	53422541	11937	13	A	T	T	T	91	7	PCDH8	3	3
SLITRK1	114798	broad.mit.edu	37	13	84455027	84455027	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:84455027C>T	uc001vlk.2	-	c.616G>A	c.(616-618)GAG>AAG	p.E206K		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	206	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)	3	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)										0.123711	15.888059	29.273051	12	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84455027	84455027	15240	13	C	T	T	T	390	30	SLITRK1	2	2
SLITRK5	26050	broad.mit.edu	37	13	88327846	88327846	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:88327846G>T	uc001vln.2	+	c.203G>T	c.(202-204)CGG>CTG	p.R68L	SLITRK5_uc010tic.1_Intron	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	68	Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)													0.213622	169.51561	193.970682	69	254	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88327846	88327846	15244	13	G	T	T	T	507	39	SLITRK5	1	1
HSP90AA1	3320	broad.mit.edu	37	14	102549392	102549392	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:102549392T>C	uc001ykv.3	-	c.2100A>G	c.(2098-2100)ATA>ATG	p.I700M	HSP90AA1_uc001yku.3_Missense_Mutation_p.I578M|HSP90AA1_uc001ykw.1_Missense_Mutation_p.I399M|HSP90AA1_uc001ykx.1_Missense_Mutation_p.I567M	NM_001017963	NP_001017963	P07900	HS90A_HUMAN	heat shock 90kDa protein 1, alpha isoform 1	578					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			ovary(2)|central_nervous_system(2)	4					Rifabutin(DB00615)					7				0.243902	65.566922	70.461691	20	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102549392	102549392	7700	14	T	C	C	C	628	49	HSP90AA1	4	4
HSP90AA1	3320	broad.mit.edu	37	14	102551666	102551666	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:102551666G>A	uc001ykv.3	-	c.998C>T	c.(997-999)TCT>TTT	p.S333F	HSP90AA1_uc001yku.3_Missense_Mutation_p.S211F|HSP90AA1_uc001ykw.1_Missense_Mutation_p.S32F|HSP90AA1_uc001ykx.1_Missense_Mutation_p.S200F	NM_001017963	NP_001017963	P07900	HS90A_HUMAN	heat shock 90kDa protein 1, alpha isoform 1	211					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			ovary(2)|central_nervous_system(2)	4					Rifabutin(DB00615)					7				0.156863	15.464212	21.196191	8	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102551666	102551666	7700	14	G	A	A	A	429	33	HSP90AA1	2	2
METT11D1	64745	broad.mit.edu	37	14	21458201	21458201	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:21458201T>C	uc001vyo.2	+	c.40T>C	c.(40-42)TGG>CGG	p.W14R	METT11D1_uc010tlk.1_Missense_Mutation_p.W14R|METT11D1_uc001vym.2_Missense_Mutation_p.W14R|METT11D1_uc001vyn.2_Missense_Mutation_p.W14R|METT11D1_uc001vyp.2_5'UTR|METT11D1_uc001vyq.2_5'UTR	NM_001029991	NP_001025162	Q9H7H0	MET17_HUMAN	methyltransferase 11 domain containing 1 isoform	14					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity				0	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0191)										0.146667	19.410368	28.379405	11	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21458201	21458201	9880	14	T	C	C	C	663	51	METT11D1	4	4
CHD8	57680	broad.mit.edu	37	14	21870599	21870599	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:21870599G>A	uc001was.1	-	c.2941C>T	c.(2941-2943)CGT>TGT	p.R981C	CHD8_uc001war.1_Missense_Mutation_p.R877C|CHD8_uc001wav.1_Missense_Mutation_p.R423C	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1260	Helicase C-terminal.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|chromatin assembly or disassembly|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	chromatin|MLL1 complex	ATP binding|beta-catenin binding|chromatin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding|transcription activator activity|transcription repressor activity			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)						886				0.054795	-7.163397	8.079907	4	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21870599	21870599	3465	14	G	A	A	A	481	37	CHD8	1	1
NOVA1	4857	broad.mit.edu	37	14	26917950	26917950	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:26917950T>A	uc001wpy.2	-	c.739A>T	c.(739-741)AGT>TGT	p.S247C	NOVA1_uc001wpz.2_Missense_Mutation_p.S223C|NOVA1_uc001wqa.2_Missense_Mutation_p.S125C	NM_002515	NP_002506	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1 isoform 1	250					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|liver(1)|skin(1)	3				GBM - Glioblastoma multiforme(265;0.0135)						340				0.19863	62.386878	74.735229	29	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26917950	26917950	10958	14	T	A	A	A	728	56	NOVA1	3	3
RALGAPA1	253959	broad.mit.edu	37	14	36097026	36097026	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:36097026G>A	uc001wtj.2	-	c.4609C>T	c.(4609-4611)CAC>TAC	p.H1537Y	RALGAPA1_uc010amp.2_Non-coding_Transcript|RALGAPA1_uc001wti.2_Missense_Mutation_p.H1537Y|RALGAPA1_uc010tpv.1_Missense_Mutation_p.H1550Y|RALGAPA1_uc010tpw.1_Missense_Mutation_p.H1584Y	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	1537	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity|signal transduction	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4														0.25	60.293871	66.207435	26	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36097026	36097026	13473	14	G	A	A	A	585	45	RALGAPA1	2	2
LRFN5	145581	broad.mit.edu	37	14	42356876	42356876	+	Nonsense_Mutation	SNP	A	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:42356876A>T	uc001wvm.2	+	c.1048A>T	c.(1048-1050)AAG>TAG	p.K350*	LRFN5_uc010ana.2_Nonsense_Mutation_p.K350*	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	350	Extracellular (Potential).|Ig-like.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)										0.1875	62.166223	78.269034	33	143	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	42356876	42356876	9314	14	A	T	T	T	13	1	LRFN5	5	3
C14orf138	79609	broad.mit.edu	37	14	50583010	50583010	+	Silent	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:50583010G>A	uc001wxo.1	-	c.261C>T	c.(259-261)ACC>ACT	p.T87T	C14orf138_uc001wxn.1_5'Flank|C14orf138_uc001wxp.1_Silent_p.T87T|C14orf138_uc001wxq.1_Non-coding_Transcript	NM_024558	NP_078834	Q9H867	MT21D_HUMAN	hypothetical protein LOC79609 isoform a	87							methyltransferase activity				0	all_epithelial(31;0.000822)|Breast(41;0.0065)													0.3	7.923469	8.279509	3	7	KEEP	---	---	---	---	capture		Silent	SNP	50583010	50583010	1794	14	G	A	A	A	548	43	C14orf138	2	2
ATL1	51062	broad.mit.edu	37	14	51058280	51058280	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:51058280G>A	uc001wyf.3	+	c.445G>A	c.(445-447)GGA>AGA	p.G149R	ATL1_uc001wyd.3_Missense_Mutation_p.G149R|ATL1_uc001wye.3_Missense_Mutation_p.G149R	NM_015915	NP_056999	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1 isoform a	149	GTP (Potential).|Cytoplasmic.				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														0.037037	-21.745751	9.606774	5	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51058280	51058280	1125	14	G	A	A	A	559	43	ATL1	2	2
TRIM9	114088	broad.mit.edu	37	14	51489622	51489622	+	Silent	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:51489622G>T	uc001wyy.2	-	c.972C>A	c.(970-972)ATC>ATA	p.I324I	TRIM9_uc001wyx.3_Silent_p.I324I|TRIM9_uc001wyz.3_Silent_p.I324I	NM_052978	NP_443210	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 2	324	Potential.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			lung(1)|skin(1)	2	all_epithelial(31;0.00418)|Breast(41;0.148)													0.05	-12.549453	13.223129	6	114	KEEP	---	---	---	---	capture		Silent	SNP	51489622	51489622	17099	14	G	T	T	T	473	37	TRIM9	1	1
PSMC6	5706	broad.mit.edu	37	14	53180639	53180639	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:53180639G>T	uc010tqx.1	+	c.524G>T	c.(523-525)CGT>CTT	p.R175L	PSMC6_uc010tqw.1_Missense_Mutation_p.R141L	NM_002806	NP_002797	P62333	PRS10_HUMAN	proteasome 26S ATPase subunit 6	161					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			lung(1)	1	Breast(41;0.176)													0.141791	34.762543	51.320152	19	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53180639	53180639	13144	14	G	T	T	T	520	40	PSMC6	1	1
GCH1	2643	broad.mit.edu	37	14	55310797	55310797	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:55310797A>T	uc001xbh.1	-	c.691T>A	c.(691-693)TTG>ATG	p.L231M	GCH1_uc001xbi.1_Missense_Mutation_p.L231M|GCH1_uc001xbj.1_Intron|GCH1_uc001xbk.1_Intron|GCH1_uc010aol.1_Intron	NM_001024024	NP_001019195	P30793	GCH1_HUMAN	GTP cyclohydrolase 1 isoform 1	231					dopamine biosynthetic process|GTP catabolic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process	cytoplasmic vesicle|cytosol|nuclear membrane|protein complex	GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding				0						Pancreas(198;1245 2204 4807 21567 38372)								0.098361	8.691873	38.31801	18	165	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55310797	55310797	6557	14	A	T	T	T	24	2	GCH1	3	3
DACT1	51339	broad.mit.edu	37	14	59112403	59112403	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:59112403G>T	uc001xdw.2	+	c.1062G>T	c.(1060-1062)AGG>AGT	p.R354S	DACT1_uc010trv.1_Missense_Mutation_p.R73S|DACT1_uc001xdx.2_Missense_Mutation_p.R317S|DACT1_uc010trw.1_Missense_Mutation_p.R73S	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	354					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5														0.179487	23.609758	31.15853	14	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59112403	59112403	4388	14	G	T	T	T	529	41	DACT1	2	2
SYNE2	23224	broad.mit.edu	37	14	64557634	64557634	+	Silent	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:64557634G>T	uc001xgl.2	+	c.11844G>T	c.(11842-11844)GTG>GTT	p.V3948V	SYNE2_uc001xgm.2_Silent_p.V3948V|SYNE2_uc010apy.2_Silent_p.V333V|SYNE2_uc010apx.1_Silent_p.V340V	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3948	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)										0.168224	35.47621	46.639255	18	89	KEEP	---	---	---	---	capture		Silent	SNP	64557634	64557634	15967	14	G	T	T	T	613	48	SYNE2	2	2
SYNE2	23224	broad.mit.edu	37	14	64591827	64591827	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:64591827G>T	uc001xgl.2	+	c.13453G>T	c.(13453-13455)GTG>TTG	p.V4485L	SYNE2_uc001xgm.2_Missense_Mutation_p.V4485L|SYNE2_uc010apy.2_Missense_Mutation_p.V870L|SYNE2_uc010apz.1_Missense_Mutation_p.V377L	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4485	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)										0.120879	16.259491	29.082631	11	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64591827	64591827	15967	14	G	T	T	T	520	40	SYNE2	1	1
ZFYVE26	23503	broad.mit.edu	37	14	68249881	68249881	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:68249881T>A	uc001xka.2	-	c.3988A>T	c.(3988-3990)AGC>TGC	p.S1330C	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.3_Missense_Mutation_p.S1330C	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1330					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)										0.082524	0.323461	36.850053	17	189	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68249881	68249881	18258	14	T	A	A	A	715	55	ZFYVE26	3	3
DCAF5	8816	broad.mit.edu	37	14	69521751	69521751	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:69521751C>A	uc001xkp.2	-	c.1652G>T	c.(1651-1653)CGG>CTG	p.R551L	DCAF5_uc001xkq.2_Missense_Mutation_p.R550L	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	WD repeat domain 22	551					protein ubiquitination	CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)	2														0.048544	-12.481776	9.811276	5	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69521751	69521751	4444	14	C	A	A	A	299	23	DCAF5	1	1
C14orf115	55237	broad.mit.edu	37	14	74824588	74824588	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:74824588G>T	uc001xpw.3	+	c.1102G>T	c.(1102-1104)GTG>TTG	p.V368L		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	368					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)										0.065574	-4.448357	7.506015	4	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74824588	74824588	1788	14	G	T	T	T	572	44	C14orf115	2	2
YLPM1	56252	broad.mit.edu	37	14	75265213	75265213	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:75265213G>T	uc001xqj.3	+	c.3213G>T	c.(3211-3213)AAG>AAT	p.K1071N	YLPM1_uc001xql.3_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	876	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)										0.151786	22.05906	35.153748	17	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75265213	75265213	18069	14	G	T	T	T	425	33	YLPM1	2	2
SERPINA4	5267	broad.mit.edu	37	14	95030082	95030082	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:95030082T>C	uc010avd.2	+	c.374T>C	c.(373-375)ATG>ACG	p.M125T	SERPINA4_uc001ydk.2_Missense_Mutation_p.M88T|SERPINA4_uc001ydl.2_Missense_Mutation_p.M88T	NM_006215	NP_006206	P29622	KAIN_HUMAN	serine (or cysteine) proteinase inhibitor, clade	88					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			ovary(3)	3				COAD - Colon adenocarcinoma(157;0.211)										0.180328	18.250853	24.177948	11	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95030082	95030082	14579	14	T	C	C	C	663	51	SERPINA4	4	4
C15orf2	23742	broad.mit.edu	37	15	24921196	24921196	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:24921196C>A	uc001ywo.2	+	c.182C>A	c.(181-183)GCA>GAA	p.A61E		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	61					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|kidney(1)|central_nervous_system(1)	6		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)						443				0.166667	7.748653	10.923702	5	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24921196	24921196	1834	15	C	A	A	A	325	25	C15orf2	2	2
HERC2	8924	broad.mit.edu	37	15	28389295	28389295	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:28389295G>A	uc001zbj.2	-	c.11227C>T	c.(11227-11229)CTT>TTT	p.L3743F		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3743					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				0.065089	-6.70494	26.48573	11	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28389295	28389295	7341	15	G	A	A	A	455	35	HERC2	2	2
TNFAIP8L3	388121	broad.mit.edu	37	15	51350211	51350211	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:51350211A>T	uc001zyy.2	-	c.746T>A	c.(745-747)ATC>AAC	p.I249N		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein	249											0				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)										0.183333	23.59519	29.23801	11	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51350211	51350211	16820	15	A	T	T	T	156	12	TNFAIP8L3	3	3
UNC13C	440279	broad.mit.edu	37	15	54914593	54914593	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:54914593G>A	uc002ack.2	+	c.6175G>A	c.(6175-6177)GGA>AGA	p.G2059R	UNC13C_uc002acm.2_5'UTR	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	2059	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)						2691				0.257576	47.463188	50.965992	17	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54914593	54914593	17544	15	G	A	A	A	559	43	UNC13C	2	2
ADAMTS7	11173	broad.mit.edu	37	15	79063993	79063993	+	Silent	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:79063993G>A	uc002bej.3	-	c.2310C>T	c.(2308-2310)TAC>TAT	p.Y770Y	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Silent_p.Y770Y	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	770	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0														0.097561	2.411384	9.023462	4	37	KEEP	---	---	---	---	capture		Silent	SNP	79063993	79063993	272	15	G	A	A	A	516	40	ADAMTS7	1	1
RASGRF1	5923	broad.mit.edu	37	15	79298770	79298770	+	Silent	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:79298770G>A	uc002beq.2	-	c.1872C>T	c.(1870-1872)GAC>GAT	p.D624D	RASGRF1_uc002bep.2_Silent_p.D611D|RASGRF1_uc010blm.1_Silent_p.D533D|RASGRF1_uc002ber.3_Silent_p.D611D|RASGRF1_uc010unh.1_Silent_p.D19D	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	624					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)|central_nervous_system(1)	4										694				0.064935	-6.189799	8.961226	5	72	KEEP	---	---	---	---	capture		Silent	SNP	79298770	79298770	13533	15	G	A	A	A	516	40	RASGRF1	1	1
ALPK3	57538	broad.mit.edu	37	15	85399864	85399864	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:85399864G>T	uc002ble.2	+	c.2501G>T	c.(2500-2502)AGG>ATG	p.R834M		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	834					heart development|protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	8			BRCA - Breast invasive adenocarcinoma(143;0.0587)							343				0.164835	26.461652	36.172636	15	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85399864	85399864	549	15	G	T	T	T	455	35	ALPK3	2	2
GP2	2813	broad.mit.edu	37	16	20331623	20331623	+	Silent	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20331623G>T	uc002dgv.2	-	c.828C>A	c.(826-828)ACC>ACA	p.T276T	GP2_uc002dgw.2_Silent_p.T273T|GP2_uc002dgx.2_Silent_p.T129T|GP2_uc002dgy.2_Silent_p.T126T	NM_001007240	NP_001007241	P55259	GP2_HUMAN	zymogen granule membrane glycoprotein 2 isoform	276	ZP.					anchored to membrane|extracellular region|plasma membrane				ovary(3)	3														0.086957	1.985806	25.836478	12	126	KEEP	---	---	---	---	capture		Silent	SNP	20331623	20331623	6856	16	G	T	T	T	600	47	GP2	2	2
IL21R	50615	broad.mit.edu	37	16	27445722	27445722	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:27445722G>T	uc002doq.1	+	c.104G>T	c.(103-105)TGC>TTC	p.C35F	IL21R_uc002dor.1_Missense_Mutation_p.C35F|IL21R_uc002dos.1_Missense_Mutation_p.C35F	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor precursor	35	Extracellular (Potential).				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			ovary(2)	2										423				0.15873	17.906611	24.902157	10	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27445722	27445722	7972	16	G	T	T	T	598	46	IL21R	2	2
CLN3	1201	broad.mit.edu	37	16	28488846	28488846	+	Silent	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:28488846C>T	uc002dpo.2	-	c.1308G>A	c.(1306-1308)CAG>CAA	p.Q436Q	CLN3_uc002dpl.2_Silent_p.Q358Q|CLN3_uc010vcu.1_Silent_p.Q336Q|CLN3_uc002dpn.2_Silent_p.Q337Q|CLN3_uc002dpm.2_Silent_p.Q382Q|CLN3_uc010vcv.1_Silent_p.Q412Q|CLN3_uc010byd.2_Silent_p.Q339Q|CLN3_uc002dpp.2_Silent_p.Q436Q|CLN3_uc002dpt.1_Silent_p.Q336Q|CLN3_uc002dpq.1_Silent_p.Q388Q|CLN3_uc010bye.1_Silent_p.Q419Q|CLN3_uc002dpr.1_Non-coding_Transcript|CLN3_uc010byf.1_Non-coding_Transcript|CLN3_uc002dps.1_Silent_p.Q309Q|CLN3_uc002dpu.1_Silent_p.Q334Q	NM_000086	NP_000077	Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	436					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding				0														0.183908	27.768602	35.920648	16	71	KEEP	---	---	---	---	capture		Silent	SNP	28488846	28488846	3681	16	C	T	T	T	363	28	CLN3	2	2
ITGAX	3687	broad.mit.edu	37	16	31384696	31384696	+	Silent	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31384696C>T	uc002ebt.2	+	c.2493C>T	c.(2491-2493)TAC>TAT	p.Y831Y	ITGAX_uc002ebu.1_Silent_p.Y831Y	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	831	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.178947	32.218763	41.434506	17	78	KEEP	---	---	---	---	capture		Silent	SNP	31384696	31384696	8193	16	C	T	T	T	246	19	ITGAX	1	1
NETO2	81831	broad.mit.edu	37	16	47162416	47162416	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:47162416G>A	uc002eer.1	-	c.301C>T	c.(301-303)CGG>TGG	p.R101W	NETO2_uc010vgf.1_5'UTR|NETO2_uc002ees.1_Missense_Mutation_p.R101W	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	neuropilin- and tolloid-like protein 2	101	Extracellular (Potential).|CUB 1.					integral to membrane	receptor activity				0		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)												0.078947	-0.435474	40.852706	18	210	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47162416	47162416	10739	16	G	A	A	A	480	37	NETO2	1	1
CDH8	1006	broad.mit.edu	37	16	61851398	61851398	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:61851398G>A	uc002eog.1	-	c.1262C>T	c.(1261-1263)ACT>ATT	p.T421I	CDH8_uc002eoh.2_Missense_Mutation_p.T190I	NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	421	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|breast(1)	7		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)										0.148936	13.291702	18.850696	7	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61851398	61851398	3245	16	G	A	A	A	468	36	CDH8	2	2
PMFBP1	83449	broad.mit.edu	37	16	72188209	72188209	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:72188209C>A	uc002fcc.3	-	c.315G>T	c.(313-315)CAG>CAT	p.Q105H	PMFBP1_uc002fcd.2_Missense_Mutation_p.Q105H|PMFBP1_uc002fce.2_Non-coding_Transcript|PMFBP1_uc002fcf.2_5'UTR	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	105	Potential.									ovary(1)	1		Ovarian(137;0.179)												0.180995	73.645661	94.815774	40	181	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72188209	72188209	12560	16	C	A	A	A	415	32	PMFBP1	2	2
JPH3	57338	broad.mit.edu	37	16	87678552	87678552	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:87678552C>G	uc002fkd.2	+	c.1071C>G	c.(1069-1071)AGC>AGG	p.S357R	JPH3_uc010vou.1_Non-coding_Transcript	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	junctophilin 3	357	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			ovary(1)|pancreas(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0287)										0.050847	-6.025936	6.583799	3	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87678552	87678552	8266	16	C	G	G	G	324	25	JPH3	3	3
DNAH9	1770	broad.mit.edu	37	17	11554419	11554419	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:11554419G>T	uc002gne.2	+	c.2131G>T	c.(2131-2133)GAA>TAA	p.E711*	DNAH9_uc010coo.2_Nonsense_Mutation_p.E5*	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	711	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)										0.213592	90.062709	105.709984	44	162	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	11554419	11554419	4791	17	G	T	T	T	585	45	DNAH9	5	2
MYOCD	93649	broad.mit.edu	37	17	12666878	12666878	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:12666878C>A	uc002gno.2	+	c.2878C>A	c.(2878-2880)CCC>ACC	p.P960T	MYOCD_uc002gnn.2_Missense_Mutation_p.P912T|MYOCD_uc002gnq.2_Missense_Mutation_p.P636T	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	myocardin isoform 1	912					cardiac cell differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of smooth muscle contraction|regulation of smooth muscle cell differentiation|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription factor binding			central_nervous_system(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)										0.157143	19.179296	27.031102	11	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12666878	12666878	10482	17	C	A	A	A	286	22	MYOCD	2	2
TRIM16	10626	broad.mit.edu	37	17	15499942	15499942	+	Silent	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:15499942C>T	uc002gor.1	-	c.2520G>A	c.(2518-2520)ACG>ACA	p.T840T	CDRT1_uc010vvy.1_5'UTR|CDRT1_uc010vvz.1_Silent_p.T30T|CDRT1_uc002gov.3_Silent_p.T530T|CDRT1_uc002gou.2_Silent_p.T138T|CDRT1_uc010cos.1_Silent_p.T30T	EBBP		O95361	TRI16_HUMAN	SubName: Full=Putative uncharacterized protein; Flags: Fragment;	Error:Variant_position_missing_in_O95361_after_alignment					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)										0.102041	3.238315	10.97694	5	44	KEEP	---	---	---	---	capture		Silent	SNP	15499942	15499942	17035	17	C	T	T	T	236	19	TRIM16	1	1
C17orf76	388341	broad.mit.edu	37	17	16347377	16347377	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:16347377G>A	uc010cph.1	-	c.560C>T	c.(559-561)TCC>TTC	p.S187F	C17orf76_uc002gqh.2_Silent_p.L148L|NCRNA00188_uc010vwl.1_Intron|NCRNA00188_uc010vwm.1_Intron|NCRNA00188_uc010vwn.1_Intron|NCRNA00188_uc010cpe.2_Intron|NCRNA00188_uc010vwo.1_Intron|NCRNA00188_uc010vwp.1_Intron|C17orf76_uc002gqg.1_3'UTR	NM_001113567	NP_001107039	Q8NAA5	CQ076_HUMAN	hypothetical protein LOC388341 isoform 1	187											0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)										0.153846	6.927884	9.87064	4	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16347377	16347377	1939	17	G	A	A	A	533	41	C17orf76	2	2
FLII	2314	broad.mit.edu	37	17	18150366	18150366	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:18150366C>G	uc002gsr.1	-	c.2677G>C	c.(2677-2679)GCG>CCG	p.A893P	FLII_uc002gsq.1_Missense_Mutation_p.A764P|FLII_uc010cpy.1_Missense_Mutation_p.A882P|FLII_uc010vxn.1_Missense_Mutation_p.A862P|FLII_uc010vxo.1_Missense_Mutation_p.A838P|FLII_uc002gss.1_Missense_Mutation_p.A892P	NM_002018	NP_002009	Q13045	FLII_HUMAN	flightless I homolog	893	Glu-rich.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(1)	1	all_neural(463;0.228)													0.133333	13.287988	21.092787	8	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18150366	18150366	6163	17	C	G	G	G	338	26	FLII	3	3
NF1	4763	broad.mit.edu	37	17	29653005	29653005	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:29653005G>T	uc002hgg.2	+	c.5003G>T	c.(5002-5004)GGC>GTC	p.G1668V	NF1_uc002hgh.2_Missense_Mutation_p.G1647V|NF1_uc002hgi.1_Missense_Mutation_p.G680V|NF1_uc010cso.2_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	1668	CRAL-TRIO.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			soft_tissue(155)|central_nervous_system(56)|large_intestine(27)|lung(19)|haematopoietic_and_lymphoid_tissue(13)|ovary(12)|autonomic_ganglia(7)|skin(3)|stomach(2)|breast(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	300		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)						847	TCGA GBM(6;<1E-8)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			0.252632	113.605715	124.171818	48	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29653005	29653005	10756	17	G	T	T	T	546	42	NF1	2	2
UTP6	55813	broad.mit.edu	37	17	30207635	30207635	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:30207635C>A	uc002hgr.2	-	c.924G>T	c.(922-924)AGG>AGT	p.R308S	UTP6_uc002hgq.2_Missense_Mutation_p.R124S|UTP6_uc010cst.2_Missense_Mutation_p.R157S|UTP6_uc010wbw.1_Missense_Mutation_p.R308S	NM_018428	NP_060898	Q9NYH9	UTP6_HUMAN	hepatocellular carcinoma-associated antigen 66	308	HAT 3.				rRNA processing	nucleolus	binding			ovary(1)	1		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)												0.18662	112.597108	138.589767	53	231	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30207635	30207635	17667	17	C	A	A	A	233	18	UTP6	2	2
GAS2L2	246176	broad.mit.edu	37	17	34072787	34072787	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:34072787C>A	uc002hjv.1	-	c.1729G>T	c.(1729-1731)GAC>TAC	p.D577Y		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	577					cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)										0.243243	55.746598	62.370757	27	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34072787	34072787	6511	17	C	A	A	A	390	30	GAS2L2	2	2
PLCD3	113026	broad.mit.edu	37	17	43195505	43195505	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:43195505C>A	uc002iib.2	-	c.1116G>T	c.(1114-1116)AGG>AGT	p.R372S		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	phospholipase C delta 3	372	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)									0.147541	13.866244	21.120368	9	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43195505	43195505	12458	17	C	A	A	A	285	22	PLCD3	2	2
FMNL1	752	broad.mit.edu	37	17	43323891	43323891	+	Silent	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:43323891C>T	uc002iin.2	+	c.3231C>T	c.(3229-3231)TTC>TTT	p.F1077F	FMNL1_uc002iiq.2_Intron|FMNL1_uc010dag.2_Intron|LOC100133991_uc010dah.2_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	formin-like 1	1077	DAD.				actin cytoskeleton organization		actin binding|Rho GTPase binding			pancreas(1)	1						GBM(164;1247 1997 8702 11086 51972)						OREG0024478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.082353	-1.439536	13.652575	7	78	KEEP	---	---	---	---	capture		Silent	SNP	43323891	43323891	6193	17	C	T	T	T	376	29	FMNL1	2	2
WSCD1	23302	broad.mit.edu	37	17	5993675	5993675	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:5993675G>C	uc010cli.2	+	c.577G>C	c.(577-579)GAG>CAG	p.E193Q	WSCD1_uc002gcn.2_Missense_Mutation_p.E193Q|WSCD1_uc002gco.2_Missense_Mutation_p.E193Q|WSCD1_uc010clj.2_5'UTR	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	WSC domain containing 1	193	WSC 1.					integral to membrane	sulfotransferase activity				0														0.078431	-0.238415	9.02713	4	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5993675	5993675	17980	17	G	C	C	C	533	41	WSCD1	3	3
MRC2	9902	broad.mit.edu	37	17	60765739	60765739	+	Silent	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:60765739C>T	uc002jad.2	+	c.3036C>T	c.(3034-3036)GTC>GTT	p.V1012V	MRC2_uc002jae.2_Silent_p.V83V|MRC2_uc002jaf.2_5'UTR	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1012	Extracellular (Potential).|C-type lectin 6.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)	2														0.186916	39.540601	49.36431	20	87	KEEP	---	---	---	---	capture		Silent	SNP	60765739	60765739	10150	17	C	T	T	T	366	29	MRC2	2	2
ACE	1636	broad.mit.edu	37	17	61568578	61568578	+	Silent	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:61568578G>T	uc002jau.1	+	c.2748G>T	c.(2746-2748)ACG>ACT	p.T916T	ACE_uc002jav.1_Silent_p.T342T|ACE_uc010ddv.1_Silent_p.T143T|ACE_uc010wpj.1_Silent_p.T342T|ACE_uc002jaw.1_Non-coding_Transcript|ACE_uc010wpk.1_Silent_p.T162T	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	916	Extracellular (Potential).|Peptidase M2 2.				angiotensin catabolic process in blood|arachidonic acid secretion|blood vessel remodeling|hemopoietic stem cell differentiation|hormone catabolic process|kidney development|mononuclear cell proliferation|peptide catabolic process|regulation of renal output by angiotensin|regulation of smooth muscle cell migration|regulation of vasoconstriction|regulation of vasodilation	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|pancreas(1)	3					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)									0.220588	37.289194	42.177042	15	53	KEEP	---	---	---	---	capture		Silent	SNP	61568578	61568578	137	17	G	T	T	T	483	38	ACE	1	1
CCDC47	57003	broad.mit.edu	37	17	61842180	61842180	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:61842180C>T	uc002jbs.3	-	c.292G>A	c.(292-294)GAT>AAT	p.D98N	CCDC47_uc010ddx.2_Missense_Mutation_p.D98N|CCDC47_uc002jbt.2_Missense_Mutation_p.D98N	NM_020198	NP_064583	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47 precursor	98						integral to membrane	protein binding				0														0.11465	18.524937	41.515278	18	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61842180	61842180	2941	17	C	T	T	T	377	29	CCDC47	2	2
SCN4A	6329	broad.mit.edu	37	17	62049513	62049513	+	Silent	SNP	G	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:62049513G>C	uc002jds.1	-	c.465C>G	c.(463-465)CCC>CCG	p.P155P		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	155	I.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)									0.16	8.088629	10.83662	4	21	KEEP	---	---	---	---	capture		Silent	SNP	62049513	62049513	14402	17	G	C	C	C	444	35	SCN4A	3	3
PSMD12	5718	broad.mit.edu	37	17	65340804	65340804	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:65340804T>C	uc002jfy.2	-	c.1001A>G	c.(1000-1002)GAG>GGG	p.E334G	PSMD12_uc002jga.2_Missense_Mutation_p.E314G|PSMD12_uc002jfz.2_Missense_Mutation_p.E275G	NM_002816	NP_002807	O00232	PSD12_HUMAN	proteasome 26S non-ATPase subunit 12 isoform 1	334	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding				0	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)													0.14	28.784547	41.295244	14	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65340804	65340804	13148	17	T	C	C	C	702	54	PSMD12	4	4
CARD14	79092	broad.mit.edu	37	17	78165189	78165189	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:78165189G>T	uc002jxw.1	+	c.1157G>T	c.(1156-1158)CGC>CTC	p.R386L	CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.2_Missense_Mutation_p.R386L|CARD14_uc010wud.1_Non-coding_Transcript|CARD14_uc002jxx.2_Missense_Mutation_p.R149L|CARD14_uc010dhu.1_Missense_Mutation_p.R184L	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	386	Potential.				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)							565				0.162963	42.181233	56.74532	22	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78165189	78165189	2765	17	G	T	T	T	494	38	CARD14	1	1
DHRS7C	201140	broad.mit.edu	37	17	9674829	9674829	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:9674829C>A	uc010vvb.1	-	c.915G>T	c.(913-915)AAG>AAT	p.K305N	DHRS7C_uc010cof.2_Missense_Mutation_p.K304N	NM_001105571	NP_001099041			dehydrogenase/reductase (SDR family) member 7C												0														0.214286	11.531533	13.647163	6	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9674829	9674829	4676	17	C	A	A	A	363	28	DHRS7C	2	2
B4GALT6	9331	broad.mit.edu	37	18	29206276	29206276	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:29206276T>A	uc002kwz.3	-	c.971A>T	c.(970-972)CAC>CTC	p.H324L	B4GALT6_uc010dma.2_Missense_Mutation_p.H285L|B4GALT6_uc010dmb.2_Missense_Mutation_p.H285L|B4GALT6_uc002kwy.3_Non-coding_Transcript	NM_004775	NP_004766	Q9UBX8	B4GT6_HUMAN	beta-1,4-galactosyltransferase 6	324	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding				0			OV - Ovarian serous cystadenocarcinoma(10;0.00791)											0.186047	18.276652	22.246685	8	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29206276	29206276	1296	18	T	A	A	A	767	59	B4GALT6	3	3
SETBP1	26040	broad.mit.edu	37	18	42530897	42530897	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:42530897G>T	uc010dni.2	+	c.1592G>T	c.(1591-1593)AGG>ATG	p.R531M		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	531						nucleus	DNA binding			large_intestine(1)	1				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)										0.198198	94.163521	112.996743	44	178	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42530897	42530897	14617	18	G	T	T	T	455	35	SETBP1	2	2
ONECUT2	9480	broad.mit.edu	37	18	55103683	55103683	+	Silent	SNP	T	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:55103683T>C	uc002lgo.2	+	c.735T>C	c.(733-735)AGT>AGC	p.S245S		NM_004852	NP_004843	O95948	ONEC2_HUMAN	one cut domain, family member 2	245					organ morphogenesis	nucleus	RNA polymerase II transcription factor activity|sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)										0.142857	17.346841	25.078498	9	54	KEEP	---	---	---	---	capture		Silent	SNP	55103683	55103683	11274	18	T	C	C	C	751	58	ONECUT2	4	4
SERPINB13	5275	broad.mit.edu	37	18	61262397	61262397	+	Silent	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:61262397C>T	uc010xep.1	+	c.777C>T	c.(775-777)AAC>AAT	p.N259N	SERPINB13_uc002ljc.2_Silent_p.N250N|SERPINB13_uc002ljd.2_Silent_p.N114N|SERPINB13_uc010xeq.1_Silent_p.N71N|SERPINB13_uc010xer.1_Silent_p.N71N	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	serine (or cysteine) proteinase inhibitor, clade	250					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)	1														0.042735	-32.452207	20.044807	10	224	KEEP	---	---	---	---	capture		Silent	SNP	61262397	61262397	14588	18	C	T	T	T	246	19	SERPINB13	1	1
CBLN2	147381	broad.mit.edu	37	18	70205991	70205992	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:70205991_70205992CC>AA	uc002lku.2	-	c.373_374GG>TT	c.(373-375)GGC>TTC	p.G125F	CBLN2_uc002lkv.2_Missense_Mutation_p.G125F	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	125	C1q.					integral to membrane					0		Esophageal squamous(42;0.131)												0.126126	17.217139	32.330395	14	97	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	70205991	70205992	2824	18	CC	AA	AA	AA	338	26	CBLN2	2	2
GALR1	2587	broad.mit.edu	37	18	74962576	74962576	+	Silent	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:74962576G>A	uc002lms.3	+	c.72G>A	c.(70-72)GGG>GGA	p.G24G		NM_001480	NP_001471	P47211	GALR1_HUMAN	galanin receptor 1	24	Extracellular (Potential).				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity				0		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)										0.333333	8.321681	8.543246	3	6	KEEP	---	---	---	---	capture		Silent	SNP	74962576	74962576	6491	18	G	A	A	A	535	42	GALR1	2	2
PPAN-P2RY11	692312	broad.mit.edu	37	19	10220370	10220370	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10220370G>T	uc002mna.2	+	c.577G>T	c.(577-579)GAC>TAC	p.D193Y	PPAN-P2RY11_uc010xla.1_Missense_Mutation_p.D193Y|P2RY11_uc002mnc.2_5'Flank|PPAN_uc002mmz.1_Missense_Mutation_p.D193Y|PPAN_uc002mnb.1_Missense_Mutation_p.D140Y|SNORD105B_uc010dwz.1_5'Flank	NM_001040664	NP_001035754	Q9NQ55	SSF1_HUMAN	PPAN-P2RY11 protein	193	Brix.				RNA splicing	nucleolus	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)											0.325893	168.401588	174.424804	73	151	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10220370	10220370	12719	19	G	T	T	T	533	41	PPAN-P2RY11	2	2
OR10H4	126541	broad.mit.edu	37	19	16060156	16060156	+	Silent	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:16060156C>A	uc010xov.1	+	c.339C>A	c.(337-339)TCC>TCA	p.S113S		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H,	113	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2														0.18552	158.959878	200.126338	82	360	KEEP	---	---	---	---	capture		Silent	SNP	16060156	16060156	11314	19	C	A	A	A	301	24	OR10H4	2	2
FAM32A	26017	broad.mit.edu	37	19	16301759	16301759	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:16301759C>T	uc002ndt.2	+	c.332C>T	c.(331-333)ACG>ATG	p.T111M		NM_014077	NP_054796	Q9Y421	FA32A_HUMAN	hypothetical protein LOC26017	111						nucleolus					0														0.106061	6.234949	16.357033	7	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16301759	16301759	5772	19	C	T	T	T	247	19	FAM32A	1	1
UNC13A	23025	broad.mit.edu	37	19	17759401	17759401	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:17759401G>T	uc002nhd.2	-	c.1919C>A	c.(1918-1920)ACG>AAG	p.T640K		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	552					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3														0.262774	98.051433	105.016846	36	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17759401	17759401	17542	19	G	T	T	T	520	40	UNC13A	1	1
JAK3	3718	broad.mit.edu	37	19	17943472	17943472	+	Missense_Mutation	SNP	C	T	T	rs1052526		TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:17943472C>T	uc002nhn.3	-	c.2536G>A	c.(2536-2538)GAC>AAC	p.D846N	JAK3_uc010ebh.2_Intron|JAK3_uc002nho.2_Missense_Mutation_p.D846N	NM_000215	NP_000206	P52333	JAK3_HUMAN	Janus kinase 3	846	Protein kinase 2.			GD -> AH (in Ref. 1; AAA19626).	B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			haematopoietic_and_lymphoid_tissue(36)|lung(3)|ovary(3)|stomach(2)|breast(2)	46								2		364				0.051282	-22.901481	18.698059	10	185	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17943472	17943472	8243	19	C	T	T	T	403	31	JAK3	1	1
GATAD2A	54815	broad.mit.edu	37	19	19576209	19576209	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:19576209C>G	uc010xqv.1	+	c.112C>G	c.(112-114)CCA>GCA	p.P38A	GATAD2A_uc010xqt.1_Missense_Mutation_p.P19A|GATAD2A_uc010xqu.1_5'UTR|GATAD2A_uc010xqw.1_5'UTR	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	19					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding				0														0.165605	54.347835	71.009787	26	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19576209	19576209	6524	19	C	G	G	G	286	22	GATAD2A	3	3
CILP2	148113	broad.mit.edu	37	19	19655874	19655874	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:19655874C>A	uc002nmw.3	+	c.2538C>A	c.(2536-2538)GAC>GAA	p.D846E	CILP2_uc002nmv.3_Missense_Mutation_p.D840E	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	840						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1														0.30303	25.125517	26.276477	10	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19655874	19655874	3564	19	C	A	A	A	220	17	CILP2	2	2
ZNF626	199777	broad.mit.edu	37	19	20808148	20808148	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:20808148C>A	uc002npb.1	-	c.535G>T	c.(535-537)GGC>TGC	p.G179C	ZNF626_uc002npc.1_Missense_Mutation_p.G103C	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	zinc finger protein 626 isoform 1	179	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.146667	18.580016	27.574446	11	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20808148	20808148	18645	19	C	A	A	A	273	21	ZNF626	2	2
GIPC3	126326	broad.mit.edu	37	19	3589536	3589536	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:3589536G>T	uc002lyd.3	+	c.688G>T	c.(688-690)GCC>TCC	p.A230S		NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	230										breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)										0.413793	68.586212	68.96332	24	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3589536	3589536	6662	19	G	T	T	T	598	46	GIPC3	2	2
ARHGAP33	115703	broad.mit.edu	37	19	36271365	36271365	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36271365G>C	uc002obs.1	+	c.667G>C	c.(667-669)GAT>CAT	p.D223H	ARHGAP33_uc002obr.1_Missense_Mutation_p.D223H|ARHGAP33_uc002obt.1_Missense_Mutation_p.D87H|ARHGAP33_uc010eel.2_5'Flank|ARHGAP33_uc002obv.1_5'Flank	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	223	SH3.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			ovary(1)|pancreas(1)|skin(1)	3														0.108108	6.671329	12.304689	4	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36271365	36271365	894	19	G	C	C	C	533	41	ARHGAP33	3	3
RYR1	6261	broad.mit.edu	37	19	39075606	39075606	+	Silent	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:39075606G>T	uc002oit.2	+	c.14670G>T	c.(14668-14670)GTG>GTT	p.V4890V	RYR1_uc002oiu.2_Silent_p.V4885V	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	4890	Helical; Name=M9; (Potential).				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)	10	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)									0.311927	90.999488	94.438719	34	75	KEEP	---	---	---	---	capture		Silent	SNP	39075606	39075606	14248	19	G	T	T	T	600	47	RYR1	2	2
ZNF780A	284323	broad.mit.edu	37	19	40580836	40580836	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:40580836C>A	uc010xvh.1	-	c.1516G>T	c.(1516-1518)GAG>TAG	p.E506*	ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omy.2_Nonsense_Mutation_p.E505*|ZNF780A_uc002omz.2_Nonsense_Mutation_p.E505*	NM_001142577	NP_001136049	O75290	Z780A_HUMAN	zinc finger protein 780A isoform a	505	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)													0.211864	53.565687	62.584161	25	93	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	40580836	40580836	18750	19	C	A	A	A	390	30	ZNF780A	5	2
LIG1	3978	broad.mit.edu	37	19	48634422	48634422	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:48634422C>T	uc002pia.1	-	c.1732G>A	c.(1732-1734)GCC>ACC	p.A578T	LIG1_uc010xze.1_Missense_Mutation_p.A271T|LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Missense_Mutation_p.A510T|LIG1_uc010xzg.1_Missense_Mutation_p.A547T	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	578					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)	2		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)									0.308642	67.4443	70.088096	25	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48634422	48634422	9107	19	C	T	T	T	351	27	LIG1	1	1
KCNA7	3743	broad.mit.edu	37	19	49573799	49573799	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:49573799G>T	uc002pmg.2	-	c.892C>A	c.(892-894)CTG>ATG	p.L298M		NM_031886	NP_114092	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related	298						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)	1		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		Colon(74;686 1235 3793 23366 48562)								0.230769	47.024823	53.07424	21	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49573799	49573799	8313	19	G	T	T	T	451	35	KCNA7	2	2
KLK15	55554	broad.mit.edu	37	19	51330248	51330248	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51330248G>T	uc002ptl.2	-	c.367C>A	c.(367-369)CGC>AGC	p.R123S	KLK15_uc002ptm.2_Intron|KLK15_uc002ptn.2_Missense_Mutation_p.R123S|KLK15_uc002pto.2_Missense_Mutation_p.R122S|KLK15_uc010ych.1_Intron|KLK15_uc010yci.1_Missense_Mutation_p.R122S|KLK15_uc010eod.2_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15 isoform 4	123	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)|breast(1)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		Pancreas(140;10 2513 7143 9246)								0.256637	76.939989	82.995904	29	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51330248	51330248	8717	19	G	T	T	T	494	38	KLK15	1	1
HAS1	3036	broad.mit.edu	37	19	52222512	52222512	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52222512C>A	uc002pxn.1	-	c.670G>T	c.(670-672)GAG>TAG	p.E224*	HAS1_uc010epc.1_5'Flank|HAS1_uc010epd.1_Nonsense_Mutation_p.E182*|HAS1_uc002pxo.1_Nonsense_Mutation_p.E217*|HAS1_uc002pxp.1_Nonsense_Mutation_p.E216*	NM_001523	NP_001514	Q92839	HAS1_HUMAN	hyaluronan synthase 1	217	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			ovary(1)|pancreas(1)	2		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		NSCLC(132;636 2450 45807 47979)								0.106383	4.04128	11.27241	5	42	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	52222512	52222512	7243	19	C	A	A	A	403	31	HAS1	5	1
BRSK1	84446	broad.mit.edu	37	19	55816254	55816254	+	Silent	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55816254G>A	uc002qkf.2	+	c.1731G>A	c.(1729-1731)CTG>CTA	p.L577L	BRSK1_uc002qkg.2_Silent_p.L561L|BRSK1_uc002qkh.2_Silent_p.L256L	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	577					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|protein phosphorylation|response to UV	cell junction|cytoplasm|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)						333				0.333333	49.498511	50.904495	19	38	KEEP	---	---	---	---	capture		Silent	SNP	55816254	55816254	1554	19	G	A	A	A	600	47	BRSK1	2	2
EPN1	29924	broad.mit.edu	37	19	56203235	56203235	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56203235C>G	uc002qlx.2	+	c.1136C>G	c.(1135-1137)TCG>TGG	p.S379W	EPN1_uc002qlw.2_Missense_Mutation_p.S293W|EPN1_uc002qlv.2_Missense_Mutation_p.S268W|EPN1_uc010etd.2_Missense_Mutation_p.S293W	NM_001130071	NP_001123543	Q9Y6I3	EPN1_HUMAN	epsin 1 isoform a	293	Ala/Gly/Pro-rich.|8 X 3 AA repeats of [ED]-P-W.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding				0		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)										0.063492	-4.542613	7.950107	4	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56203235	56203235	5378	19	C	G	G	G	403	31	EPN1	3	3
LONP1	9361	broad.mit.edu	37	19	5705941	5705941	+	Silent	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:5705941G>A	uc002mcx.2	-	c.1209C>T	c.(1207-1209)ATC>ATT	p.I403I	LONP1_uc002mcy.2_Silent_p.I339I|LONP1_uc010duh.2_Silent_p.I144I|LONP1_uc010dui.2_Silent_p.I387I|LONP1_uc002mcz.2_Silent_p.I207I	NM_004793	NP_004784	P36776	LONM_HUMAN	mitochondrial lon peptidase 1 precursor	403					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding				0														0.215385	92.440266	107.02355	42	153	KEEP	---	---	---	---	capture		Silent	SNP	5705941	5705941	9264	19	G	A	A	A	577	45	LONP1	2	2
COL11A1	1301	broad.mit.edu	37	1	103463891	103463891	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:103463891C>A	uc001dum.2	-	c.2207G>T	c.(2206-2208)GGA>GTA	p.G736V	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dul.2_Missense_Mutation_p.G724V|COL11A1_uc001dun.2_Missense_Mutation_p.G685V|COL11A1_uc009weh.2_Missense_Mutation_p.G608V	NM_080629	NP_542196	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform B	724	Triple-helical region.				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)										0.172414	9.56494	12.49905	5	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103463891	103463891	3805	1	C	A	A	A	390	30	COL11A1	2	2
AKNAD1	254268	broad.mit.edu	37	1	109395169	109395169	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:109395169C>A	uc001dwa.2	-	c.118G>T	c.(118-120)GGC>TGC	p.G40C	AKNAD1_uc010ovb.1_Intron|AKNAD1_uc001dwb.2_Non-coding_Transcript	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	hypothetical protein LOC254268	40										ovary(3)	3														0.14881	44.756274	64.6431	25	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109395169	109395169	467	1	C	A	A	A	273	21	AKNAD1	2	2
SLC6A17	388662	broad.mit.edu	37	1	110738261	110738261	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:110738261G>T	uc009wfq.2	+	c.1546G>T	c.(1546-1548)GGA>TGA	p.G516*		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	solute carrier family 6, member 17	516	Extracellular (Potential).				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			ovary(1)|pancreas(1)	2		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)										0.096386	5.249908	18.793953	8	75	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	110738261	110738261	15177	1	G	T	T	T	507	39	SLC6A17	5	1
BOLA1	51027	broad.mit.edu	37	1	149871771	149871771	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:149871771C>G	uc001etf.2	+	c.159C>G	c.(157-159)AAC>AAG	p.N53K		NM_016074	NP_057158	Q9Y3E2	BOLA1_HUMAN	bolA-like 1	53						extracellular region	protein 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)											0.057971	-4.250616	9.878433	4	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149871771	149871771	1510	1	C	G	G	G	246	19	BOLA1	3	3
FLG	2312	broad.mit.edu	37	1	152277028	152277028	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152277028C>T	uc001ezu.1	-	c.10334G>A	c.(10333-10335)AGG>AAG	p.R3445K		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3445	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)	9	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.057471	-55.0027	88.055395	40	656	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152277028	152277028	6160	1	C	T	T	T	312	24	FLG	2	2
FLG2	388698	broad.mit.edu	37	1	152323527	152323527	+	Silent	SNP	G	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152323527G>C	uc001ezw.3	-	c.6735C>G	c.(6733-6735)TCC>TCG	p.S2245S		NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	2245							calcium ion binding|structural molecule activity			ovary(9)|breast(1)	10	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.131295	112.976106	186.710859	73	483	KEEP	---	---	---	---	capture		Silent	SNP	152323527	152323527	6161	1	G	C	C	C	600	47	FLG2	3	3
FLG2	388698	broad.mit.edu	37	1	152331316	152331316	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152331316G>C	uc001ezw.3	-	c.45C>G	c.(43-45)TTC>TTG	p.F15L		NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	15	S-100-like (By similarity).|EF-hand 1.						calcium ion binding|structural molecule activity			ovary(9)|breast(1)	10	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.121951	37.870475	60.853797	20	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152331316	152331316	6161	1	G	C	C	C	425	33	FLG2	3	3
ARHGEF2	9181	broad.mit.edu	37	1	155921320	155921320	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155921320G>A	uc001fmu.2	-	c.2345C>T	c.(2344-2346)GCG>GTG	p.A782V	ARHGEF2_uc001fmq.2_5'Flank|ARHGEF2_uc001fmr.2_Missense_Mutation_p.A710V|ARHGEF2_uc001fms.2_Missense_Mutation_p.A737V|ARHGEF2_uc001fmt.2_Missense_Mutation_p.A738V	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor 2	738					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			ovary(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					Melanoma(178;35 2768 6610 28839)								0.108434	11.635545	36.885454	18	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155921320	155921320	917	1	G	A	A	A	494	38	ARHGEF2	1	1
PEAR1	375033	broad.mit.edu	37	1	156877441	156877441	+	Silent	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156877441C>T	uc001fqj.1	+	c.684C>T	c.(682-684)TTC>TTT	p.F228F	PEAR1_uc009wsl.1_Silent_p.F29F|PEAR1_uc001fqk.1_5'UTR	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	228	EGF-like 2.					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)													0.209877	198.842715	230.396619	85	320	KEEP	---	---	---	---	capture		Silent	SNP	156877441	156877441	12133	1	C	T	T	T	415	32	PEAR1	2	2
PEAR1	375033	broad.mit.edu	37	1	156880491	156880491	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156880491C>A	uc001fqj.1	+	c.1907C>A	c.(1906-1908)ACC>AAC	p.T636N	PEAR1_uc001fqk.1_Missense_Mutation_p.T261N	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	636	EGF-like 8.					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)													0.117647	4.67573	9.562115	4	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156880491	156880491	12133	1	C	A	A	A	234	18	PEAR1	2	2
FCRL3	115352	broad.mit.edu	37	1	157650837	157650837	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157650837C>G	uc001fqz.3	-	c.1891G>C	c.(1891-1893)GAC>CAC	p.D631H	FCRL3_uc001fqx.3_Non-coding_Transcript|FCRL3_uc001fqy.3_Non-coding_Transcript|FCRL3_uc009wsn.2_Non-coding_Transcript|FCRL3_uc009wso.2_Non-coding_Transcript|FCRL3_uc001fra.2_Missense_Mutation_p.D357H|FCRL3_uc001frb.2_Missense_Mutation_p.D631H|FCRL3_uc001frc.1_Missense_Mutation_p.D631H	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	631	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)													0.068966	-2.031171	9.092627	4	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157650837	157650837	6033	1	C	G	G	G	416	32	FCRL3	3	3
FCRL2	79368	broad.mit.edu	37	1	157739662	157739662	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157739662C>A	uc001fre.2	-	c.589G>T	c.(589-591)GTG>TTG	p.V197L	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.V197L|FCRL2_uc009wsp.2_Intron|FCRL2_uc010pia.1_Missense_Mutation_p.V197L	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2 precursor	197	Extracellular (Potential).				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)		LUSC - Lung squamous cell carcinoma(543;0.24)											0.081081	3.383719	29.84375	12	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157739662	157739662	6032	1	C	A	A	A	247	19	FCRL2	1	1
CD1E	913	broad.mit.edu	37	1	158325255	158325255	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158325255G>T	uc001fse.2	+	c.521G>T	c.(520-522)CGC>CTC	p.R174L	CD1E_uc010pid.1_Missense_Mutation_p.R172L|CD1E_uc010pie.1_Missense_Mutation_p.R75L|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Missense_Mutation_p.R174L|CD1E_uc001fsk.2_Intron|CD1E_uc001fsj.2_Intron|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.R174L|CD1E_uc001fry.2_Missense_Mutation_p.R174L|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Missense_Mutation_p.R174L|CD1E_uc009wsv.2_Missense_Mutation_p.R75L|CD1E_uc001frz.2_Intron|CD1E_uc009wsw.2_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	CD1E antigen isoform a precursor	174					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen					0	all_hematologic(112;0.0378)													0.096552	6.968947	30.6184	14	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158325255	158325255	3105	1	G	T	T	T	494	38	CD1E	1	1
OR10K2	391107	broad.mit.edu	37	1	158390597	158390597	+	Silent	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158390597C>A	uc010pii.1	-	c.60G>T	c.(58-60)CTG>CTT	p.L20L		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)													0.152174	10.09005	15.426356	7	39	KEEP	---	---	---	---	capture		Silent	SNP	158390597	158390597	11320	1	C	A	A	A	262	21	OR10K2	2	2
SPTA1	6708	broad.mit.edu	37	1	158609396	158609396	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158609396C>A	uc001fst.1	-	c.4956G>T	c.(4954-4956)TTG>TTT	p.L1652F		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1652	Spectrin 16.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|breast(1)	5	all_hematologic(112;0.0378)													0.116883	21.948148	44.175408	18	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158609396	158609396	15630	1	C	A	A	A	272	21	SPTA1	2	2
ADAMTS4	9507	broad.mit.edu	37	1	161161242	161161242	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161161242C>A	uc001fyt.3	-	c.2200G>T	c.(2200-2202)GGC>TGC	p.G734C		NM_005099	NP_005090	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1	734	Spacer.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			ovary(4)|central_nervous_system(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)											0.113043	13.40425	30.389407	13	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161161242	161161242	269	1	C	A	A	A	273	21	ADAMTS4	2	2
OLFML2B	25903	broad.mit.edu	37	1	161953664	161953664	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161953664G>A	uc010pkq.1	-	c.2057C>T	c.(2056-2058)GCC>GTC	p.A686V	OLFML2B_uc001gbt.2_Missense_Mutation_p.A168V|OLFML2B_uc001gbu.2_Missense_Mutation_p.A685V	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	685	Olfactomedin-like.										0	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)											0.026087	-47.753343	9.416172	6	224	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161953664	161953664	11263	1	G	A	A	A	546	42	OLFML2B	2	2
UAP1	6675	broad.mit.edu	37	1	162536099	162536099	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:162536099A>T	uc001gce.3	+	c.241A>T	c.(241-243)ACA>TCA	p.T81S		NM_003115	NP_003106	Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	81					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			ovary(2)|kidney(1)|skin(1)	4	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)											0.130435	7.620105	13.731937	6	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	162536099	162536099	17382	1	A	T	T	T	182	14	UAP1	3	3
RGS4	5999	broad.mit.edu	37	1	163039278	163039278	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:163039278T>A	uc001gcl.3	+	c.295T>A	c.(295-297)TGC>AGC	p.C99S	RGS4_uc009wuy.2_Missense_Mutation_p.C2S|RGS4_uc009wuz.2_Missense_Mutation_p.C2S|RGS4_uc009wva.2_5'Flank	NM_001102445	NP_001095915	P49798	RGS4_HUMAN	regulator of G-protein signaling 4 isoform 1	2					inactivation of MAPK activity|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			ovary(2)|central_nervous_system(1)	3						Ovarian(76;1257 1738 3039 6086)						OREG0013952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.151515	17.818978	25.485506	10	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	163039278	163039278	13781	1	T	A	A	A	767	59	RGS4	3	3
NUF2	83540	broad.mit.edu	37	1	163309231	163309231	+	Silent	SNP	A	G	G			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:163309231A>G	uc001gcq.1	+	c.570A>G	c.(568-570)CTA>CTG	p.L190L	NUF2_uc001gcp.2_Silent_p.L190L|NUF2_uc001gcr.1_Silent_p.L190L|NUF2_uc009wvc.1_Silent_p.L190L	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	190	Interaction with the N-terminus of NDC80.|Potential.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			ovary(3)	3	all_hematologic(923;0.101)													0.078125	2.927831	14.566711	5	59	KEEP	---	---	---	---	capture		Silent	SNP	163309231	163309231	11152	1	A	G	G	G	171	14	NUF2	4	4
CLCNKA	1187	broad.mit.edu	37	1	16355272	16355272	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:16355272G>A	uc001axu.2	+	c.985G>A	c.(985-987)GCT>ACT	p.A329T	CLCNKA_uc001axt.2_Non-coding_Transcript|CLCNKA_uc001axv.2_Missense_Mutation_p.A329T|CLCNKA_uc010obw.1_Missense_Mutation_p.A286T|CLCNKB_uc001axw.3_Intron|CLCNKA_uc010obx.1_5'UTR|CLCNKA_uc010oby.1_Missense_Mutation_p.R58H	NM_004070	NP_004061	P51800	CLCKA_HUMAN	chloride channel Ka isoform 1	329	Helical; (Potential).				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)									0.033019	-38.193799	12.203873	7	205	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16355272	16355272	3605	1	G	A	A	A	494	38	CLCNKA	1	1
ILDR2	387597	broad.mit.edu	37	1	166892002	166892002	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:166892002T>A	uc001gdx.1	-	c.1039A>T	c.(1039-1041)AGC>TGC	p.S347C		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor	347	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1														0.101504	21.955428	64.086331	27	239	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166892002	166892002	8011	1	T	A	A	A	715	55	ILDR2	3	3
XCL1	6375	broad.mit.edu	37	1	168550395	168550395	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:168550395G>T	uc001gfo.1	+	c.282G>T	c.(280-282)ATG>ATT	p.M94I		NM_002995	NP_002986	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	94					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of T-helper 1 type immune response|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|signal transduction|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity				0	all_hematologic(923;0.208)													0.175439	19.011769	24.677358	10	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168550395	168550395	18004	1	G	T	T	T	585	45	XCL1	2	2
SELP	6403	broad.mit.edu	37	1	169566244	169566244	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:169566244G>T	uc001ggi.3	-	c.1876C>A	c.(1876-1878)CCA>ACA	p.P626T	SELP_uc001ggh.2_Missense_Mutation_p.P461T|SELP_uc009wvr.2_Missense_Mutation_p.P626T	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	626	Extracellular (Potential).|Sushi 7.				defense response to Gram-negative bacterium|platelet activation|platelet degranulation|positive regulation of platelet activation|response to lipopolysaccharide	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)	2	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)									0.134146	12.662008	23.317843	11	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169566244	169566244	14505	1	G	T	T	T	533	41	SELP	2	2
TNN	63923	broad.mit.edu	37	1	175092757	175092757	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175092757G>A	uc001gkl.1	+	c.2872G>A	c.(2872-2874)GGG>AGG	p.G958R		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	958	Fibronectin type-III 8.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)						470				0.111111	12.281379	29.801309	13	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175092757	175092757	16864	1	G	A	A	A	559	43	TNN	2	2
ASTN1	460	broad.mit.edu	37	1	177001817	177001817	+	Silent	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:177001817G>T	uc001glc.2	-	c.640C>A	c.(640-642)CGG>AGG	p.R214R	ASTN1_uc001glb.1_Silent_p.R214R|ASTN1_uc001gld.1_Silent_p.R214R|ASTN1_uc009wwx.1_Silent_p.R214R|ASTN1_uc001gle.3_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	214					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	11										849				0.121951	7.37534	13.088912	5	36	KEEP	---	---	---	---	capture		Silent	SNP	177001817	177001817	1083	1	G	T	T	T	519	40	ASTN1	1	1
TDRD5	163589	broad.mit.edu	37	1	179562680	179562680	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:179562680G>T	uc010pnp.1	+	c.318G>T	c.(316-318)AAG>AAT	p.K106N	TDRD5_uc001gnf.1_Missense_Mutation_p.K106N	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	106					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			ovary(2)|central_nervous_system(1)|skin(1)	4														0.19802	41.535836	50.116896	20	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179562680	179562680	16260	1	G	T	T	T	451	35	TDRD5	2	2
FAM5C	339479	broad.mit.edu	37	1	190067913	190067913	+	Silent	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:190067913G>T	uc001gse.1	-	c.1536C>A	c.(1534-1536)GCC>GCA	p.A512A	FAM5C_uc010pot.1_Silent_p.A410A	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	512						extracellular region				lung(2)|ovary(1)|kidney(1)	4	Prostate(682;0.198)													0.163636	68.759222	92.406557	36	184	KEEP	---	---	---	---	capture		Silent	SNP	190067913	190067913	5817	1	G	T	T	T	600	47	FAM5C	2	2
RGS13	6003	broad.mit.edu	37	1	192613472	192613472	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:192613472G>T	uc001gsj.2	+	c.8G>T	c.(7-9)AGG>ATG	p.R3M	RGS13_uc001gsk.2_Missense_Mutation_p.R3M	NM_002927	NP_002918	O14921	RGS13_HUMAN	regulator of G-protein signalling 13	3						plasma membrane	GTPase activator activity|signal transducer activity				0														0.136095	33.496445	55.18614	23	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	192613472	192613472	13770	1	G	T	T	T	455	35	RGS13	2	2
IGFN1	91156	broad.mit.edu	37	1	201195156	201195156	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:201195156G>T	uc001gwc.2	+	c.2171G>T	c.(2170-2172)GGC>GTC	p.G724V	IGFN1_uc001gwb.2_Non-coding_Transcript	NM_178275	NP_840059			RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;											ovary(2)|pancreas(1)	3														0.203704	23.609431	27.999854	11	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	201195156	201195156	7891	1	G	T	T	T	546	42	IGFN1	2	2
C1orf186	440712	broad.mit.edu	37	1	206239421	206239421	+	Silent	SNP	A	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:206239421A>T	uc001hdt.1	-	c.477T>A	c.(475-477)CCT>CCA	p.P159P		NM_001007544	NP_001007545	Q6ZWK4	CA186_HUMAN	hypothetical protein LOC440712	159						integral to membrane					0			BRCA - Breast invasive adenocarcinoma(75;0.0754)											0.222222	69.448081	78.383089	28	98	KEEP	---	---	---	---	capture		Silent	SNP	206239421	206239421	2088	1	A	T	T	T	80	7	C1orf186	3	3
KCTD3	51133	broad.mit.edu	37	1	215792539	215792539	+	Nonsense_Mutation	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:215792539C>T	uc001hks.2	+	c.1792C>T	c.(1792-1794)CAA>TAA	p.Q598*	KCTD3_uc001hkt.2_Nonsense_Mutation_p.Q596*|KCTD3_uc010pub.1_Nonsense_Mutation_p.Q496*|KCTD3_uc009xdn.2_Nonsense_Mutation_p.Q322*	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	potassium channel tetramerisation domain	598						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(2)	2				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)										0.039216	-24.091858	10.984838	6	147	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	215792539	215792539	8416	1	C	T	T	T	377	29	KCTD3	5	2
USH2A	7399	broad.mit.edu	37	1	216011423	216011423	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216011423G>T	uc001hku.1	-	c.9281C>A	c.(9280-9282)GCC>GAC	p.A3094D		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3094	Fibronectin type-III 17.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.110553	21.092707	50.965507	22	177	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216011423	216011423	17598	1	G	T	T	T	546	42	USH2A	2	2
HHIPL2	79802	broad.mit.edu	37	1	222717000	222717000	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:222717000G>T	uc001hnh.1	-	c.853C>A	c.(853-855)CAC>AAC	p.H285N		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	285					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)										0.10989	37.923723	92.767779	40	324	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	222717000	222717000	7378	1	G	T	T	T	611	47	HHIPL2	2	2
OBSCN	84033	broad.mit.edu	37	1	228466474	228466474	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:228466474G>T	uc009xez.1	+	c.6944G>T	c.(6943-6945)CGG>CTG	p.R2315L	OBSCN_uc001hsn.2_Missense_Mutation_p.R2315L|OBSCN_uc001hsp.1_Missense_Mutation_p.R14L|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2315	Ig-like 23.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.152542	12.798774	19.570815	9	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	228466474	228466474	11217	1	G	T	T	T	507	39	OBSCN	1	1
C1QB	713	broad.mit.edu	37	1	22986035	22986035	+	Missense_Mutation	SNP	T	G	G			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:22986035T>G	uc001bgd.2	+	c.86T>G	c.(85-87)CTC>CGC	p.L29R		NM_000491	NP_000482	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	29					complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)									0.105882	6.230464	19.337558	9	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22986035	22986035	2022	1	T	G	G	G	702	54	C1QB	4	4
NID1	4811	broad.mit.edu	37	1	236187423	236187423	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236187423T>A	uc001hxo.2	-	c.2075A>T	c.(2074-2076)CAG>CTG	p.Q692L	NID1_uc009xgd.2_Missense_Mutation_p.Q692L	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	692	EGF-like 2.				bioluminescence|cell-matrix adhesion|protein-chromophore linkage	basement membrane|membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)									0.083333	1.930324	12.513818	5	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	236187423	236187423	10815	1	T	A	A	A	715	55	NID1	3	3
RYR2	6262	broad.mit.edu	37	1	237550607	237550607	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237550607A>T	uc001hyl.1	+	c.603A>T	c.(601-603)TTA>TTT	p.L201F		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	201	Cytoplasmic (By similarity).|MIR 2.				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)											0.090909	-0.45179	8.908158	5	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237550607	237550607	14249	1	A	T	T	T	180	14	RYR2	3	3
RYR2	6262	broad.mit.edu	37	1	237659975	237659975	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237659975G>C	uc001hyl.1	+	c.2126G>C	c.(2125-2127)GGG>GCG	p.G709A		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	709	Cytoplasmic (By similarity).|B30.2/SPRY 1.				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)											0.117647	26.899651	46.443248	16	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237659975	237659975	14249	1	G	C	C	C	559	43	RYR2	3	3
RYR2	6262	broad.mit.edu	37	1	237794761	237794762	+	Missense_Mutation	DNP	CC	AG	AG			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237794761_237794762CC>AG	uc001hyl.1	+	c.6475_6476CC>AG	c.(6475-6477)CCT>AGT	p.P2159S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2159	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)											0.226415	29.170319	32.814062	12	41	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	237794761	237794762	14249	1	CC	AG	AG	AG	286	22	RYR2	2	2
OR2T2	401992	broad.mit.edu	37	1	248616384	248616384	+	Silent	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248616384C>T	uc001iek.1	+	c.286C>T	c.(286-288)CTG>TTG	p.L96L		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T,	96	Extracellular (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)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.065934	-19.190358	52.367048	24	340	KEEP	---	---	---	---	capture		Silent	SNP	248616384	248616384	11426	1	C	T	T	T	311	24	OR2T2	2	2
OR2T34	127068	broad.mit.edu	37	1	248737364	248737364	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248737364C>A	uc001iep.1	-	c.695G>T	c.(694-696)AGG>ATG	p.R232M		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T,	232	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.158824	43.701762	62.577714	27	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248737364	248737364	11431	1	C	A	A	A	312	24	OR2T34	2	2
OR2T11	127077	broad.mit.edu	37	1	248790155	248790155	+	Missense_Mutation	SNP	A	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248790155A>C	uc001ier.1	-	c.275T>G	c.(274-276)GTG>GGG	p.V92G		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T,	92	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)	1	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.15493	24.986471	33.056383	11	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248790155	248790155	11424	1	A	C	C	C	78	6	OR2T11	4	4
SH3BP5L	80851	broad.mit.edu	37	1	249119037	249119037	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:249119037G>C	uc001iew.1	-	c.98C>G	c.(97-99)GCA>GGA	p.A33G	SH3BP5L_uc001iev.1_5'UTR	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	33											0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)											0.022099	-75.499598	16.755879	8	354	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	249119037	249119037	14739	1	G	C	C	C	598	46	SH3BP5L	3	3
BSND	7809	broad.mit.edu	37	1	55474212	55474212	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:55474212G>A	uc001cye.2	+	c.874G>A	c.(874-876)GAG>AAG	p.E292K		NM_057176	NP_476517	Q8WZ55	BSND_HUMAN	barttin	292	Cytoplasmic (Potential).					basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				ovary(1)	1						Ovarian(191;1657 2078 22894 42033 48899)								0.081395	2.107739	32.813523	14	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55474212	55474212	1562	1	G	A	A	A	429	33	BSND	2	2
USP24	23358	broad.mit.edu	37	1	55566576	55566576	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:55566576T>A	uc001cyg.3	-	c.4727A>T	c.(4726-4728)CAG>CTG	p.Q1576L		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	1736					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13														0.117647	10.395192	20.129392	8	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55566576	55566576	17618	1	T	A	A	A	715	55	USP24	3	3
C1orf168	199920	broad.mit.edu	37	1	57209875	57209875	+	Silent	SNP	A	G	G			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:57209875A>G	uc001cym.3	-	c.1452T>C	c.(1450-1452)AGT>AGC	p.S484S	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc001cyl.2_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	hypothetical protein LOC199920	484										ovary(2)	2														0.112676	26.300629	47.325106	16	126	KEEP	---	---	---	---	capture		Silent	SNP	57209875	57209875	2079	1	A	G	G	G	24	2	C1orf168	4	4
DAB1	1600	broad.mit.edu	37	1	57756646	57756646	+	Silent	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:57756646G>T	uc001cys.1	-	c.57C>A	c.(55-57)TCC>TCA	p.S19S	DAB1_uc001cyt.1_Silent_p.S19S|DAB1_uc001cyq.1_Silent_p.S19S|DAB1_uc001cyr.1_Silent_p.S19S|DAB1_uc009vzw.1_Silent_p.S19S|DAB1_uc009vzx.1_Silent_p.S19S	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	19					cell differentiation|nervous system development					ovary(1)	1										395				0.181102	48.242286	60.385676	23	104	KEEP	---	---	---	---	capture		Silent	SNP	57756646	57756646	4383	1	G	T	T	T	600	47	DAB1	2	2
IL23R	149233	broad.mit.edu	37	1	67685289	67685289	+	Silent	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:67685289G>T	uc001ddo.2	+	c.831G>T	c.(829-831)GTG>GTT	p.V277V	IL23R_uc009waz.2_Silent_p.V74V|IL23R_uc001ddp.2_Non-coding_Transcript|IL23R_uc010opi.1_Intron|IL23R_uc010opj.1_5'UTR|IL23R_uc010opk.1_Silent_p.V234V|IL23R_uc010opl.1_5'UTR|IL23R_uc010opm.1_Non-coding_Transcript|IL23R_uc001ddq.2_Silent_p.V23V|IL23R_uc010opn.1_Silent_p.V122V|IL23R_uc001ddr.2_Non-coding_Transcript|IL23R_uc010opo.1_Silent_p.V136V|IL23R_uc010opp.1_Intron|IL23R_uc010opq.1_Silent_p.V136V|IL23R_uc010opr.1_Non-coding_Transcript|IL23R_uc010ops.1_Silent_p.V74V|IL23R_uc010opt.1_Intron|IL23R_uc010opu.1_Intron|IL23R_uc010opv.1_Intron|IL23R_uc010opw.1_5'UTR|IL23R_uc010opx.1_Intron|IL23R_uc010opy.1_Silent_p.V74V|IL23R_uc010opz.1_5'UTR|IL23R_uc010oqa.1_5'UTR|IL23R_uc010oqb.1_Silent_p.V136V|IL23R_uc010oqc.1_Silent_p.V23V|IL23R_uc010oqd.1_5'UTR|IL23R_uc010oqe.1_5'UTR|IL23R_uc010oqf.1_5'UTR|IL23R_uc010oqg.1_5'UTR|IL23R_uc010oqh.1_5'UTR|IL23R_uc001dds.2_Silent_p.V22V|IL23R_uc001ddt.2_5'UTR	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor precursor	277	Extracellular (Potential).|Fibronectin type-III 2.				defense response to Gram-negative bacterium|inflammatory response|negative regulation of interleukin-10 production|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of NK T cell activation|positive regulation of osteoclast differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity				0														0.265306	68.0068	72.884511	26	72	KEEP	---	---	---	---	capture		Silent	SNP	67685289	67685289	7977	1	G	T	T	T	587	46	IL23R	2	2
CLSTN1	22883	broad.mit.edu	37	1	9801204	9801204	+	Silent	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:9801204C>A	uc001aqh.2	-	c.1467G>T	c.(1465-1467)CCG>CCT	p.P489P	CLSTN1_uc001aqi.2_Silent_p.P479P|CLSTN1_uc010oag.1_Silent_p.P489P	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	489	Extracellular (Potential).				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding				0	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)										0.172414	48.343866	63.00193	25	120	KEEP	---	---	---	---	capture		Silent	SNP	9801204	9801204	3699	1	C	A	A	A	340	27	CLSTN1	1	1
BTBD3	22903	broad.mit.edu	37	20	11903469	11903469	+	Nonsense_Mutation	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:11903469C>T	uc002wnz.2	+	c.724C>T	c.(724-726)CAG>TAG	p.Q242*	BTBD3_uc002wny.2_Nonsense_Mutation_p.Q181*|BTBD3_uc002woa.2_Nonsense_Mutation_p.Q181*|BTBD3_uc010zrf.1_Nonsense_Mutation_p.Q91*|BTBD3_uc010zrg.1_Nonsense_Mutation_p.Q91*|BTBD3_uc010zrh.1_Nonsense_Mutation_p.Q91*	NM_014962	NP_055777	Q9Y2F9	BTBD3_HUMAN	BTB/POZ domain containing protein 3 isoform a	242										ovary(2)|central_nervous_system(1)	3														0.174312	35.655519	46.570048	19	90	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	11903469	11903469	1578	20	C	T	T	T	273	21	BTBD3	5	2
DLGAP4	22839	broad.mit.edu	37	20	35060939	35060939	+	Silent	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:35060939C>A	uc002xff.2	+	c.819C>A	c.(817-819)CCC>CCA	p.P273P	DLGAP4_uc010zvp.1_Silent_p.P273P	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	273	Poly-Pro.				cell-cell signaling	membrane	protein binding			ovary(1)|skin(1)	2	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)												0.32	20.089238	20.809988	8	17	KEEP	---	---	---	---	capture		Silent	SNP	35060939	35060939	4742	20	C	A	A	A	275	22	DLGAP4	2	2
SLA2	84174	broad.mit.edu	37	20	35262953	35262953	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:35262953G>A	uc002xfv.2	-	c.131C>T	c.(130-132)CCG>CTG	p.P44L	SLA2_uc002xfu.2_Missense_Mutation_p.P44L	NM_032214	NP_115590	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2 isoform a	44	SH3.				antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	protein N-terminus binding|SH3/SH2 adaptor activity				0	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				Ovarian(59;720 1165 26994 46188 51693)								0.068966	-1.150755	9.89674	4	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35262953	35262953	14859	20	G	A	A	A	507	39	SLA2	1	1
RBL1	5933	broad.mit.edu	37	20	35632118	35632119	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:35632118_35632119CC>AA	uc002xgi.2	-	c.3022_3023GG>TT	c.(3022-3024)GGC>TTC	p.G1008F	RBL1_uc010zvt.1_Non-coding_Transcript|RBL1_uc002xgj.1_Missense_Mutation_p.G1008F	NM_002895	NP_002886	P28749	RBL1_HUMAN	retinoblastoma-like protein 1 isoform a	1008					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			lung(5)|ovary(2)	7		Myeloproliferative disorder(115;0.00878)								419				0.132911	31.775427	52.438169	21	137	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	35632118	35632119	13570	20	CC	AA	AA	AA	338	26	RBL1	2	2
C20orf132	140699	broad.mit.edu	37	20	35737068	35737068	+	Splice_Site_SNP	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:35737068C>A	uc010zvu.1	-	c.2945_splice	c.e25-1	p.G982_splice	C20orf132_uc002xgk.2_Splice_Site_SNP_p.G604_splice	NM_152503	NP_689716			hypothetical protein LOC140699 isoform 1												0		Myeloproliferative disorder(115;0.00878)												0.15	10.52109	15.221079	6	34	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	35737068	35737068	2163	20	C	A	A	A	312	24	C20orf132	5	2
KIAA1755	85449	broad.mit.edu	37	20	36869629	36869629	+	Missense_Mutation	SNP	A	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:36869629A>C	uc002xhy.1	-	c.904T>G	c.(904-906)TCT>GCT	p.S302A	KIAA1755_uc002xhz.1_Missense_Mutation_p.S302A	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	302										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)												0.05618	-21.661224	52.009884	20	336	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36869629	36869629	8568	20	A	C	C	C	117	9	KIAA1755	4	4
SLC32A1	140679	broad.mit.edu	37	20	37353584	37353584	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:37353584G>A	uc002xjc.2	+	c.217G>A	c.(217-219)GAG>AAG	p.E73K		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	73	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)									0.123711	13.330233	26.773053	12	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37353584	37353584	15062	20	G	A	A	A	481	37	SLC32A1	1	1
MYBL2	4605	broad.mit.edu	37	20	42340215	42340215	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:42340215C>T	uc002xlb.1	+	c.1693C>T	c.(1693-1695)CCC>TCC	p.P565S	MYBL2_uc010zwj.1_Missense_Mutation_p.P541S	NM_002466	NP_002457	P10244	MYBB_HUMAN	MYB-related protein B	565	Bipartite nuclear localization signal.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(3)|kidney(2)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)							380				0.193548	11.54871	14.254485	6	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42340215	42340215	10405	20	C	T	T	T	338	26	MYBL2	2	2
JPH2	57158	broad.mit.edu	37	20	42815297	42815297	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:42815297C>A	uc002xli.1	-	c.49G>T	c.(49-51)GGC>TGC	p.G17C	JPH2_uc002xlj.2_Missense_Mutation_p.G17C	NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	17	MORN 1.|Gly-rich.|Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane					0		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)											0.216216	52.49019	60.70242	24	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42815297	42815297	8265	20	C	A	A	A	286	22	JPH2	2	2
SEMG2	6407	broad.mit.edu	37	20	43851907	43851907	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:43851907G>T	uc010ggz.2	+	c.1634G>T	c.(1633-1635)AGA>ATA	p.R545I	SEMG2_uc002xnk.2_Missense_Mutation_p.R545I|SEMG2_uc002xnl.2_Missense_Mutation_p.R425I	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	semenogelin II precursor	545	Repeat-rich region.|3-2.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity				0		Myeloproliferative disorder(115;0.0122)												0.142857	23.82027	37.592113	16	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43851907	43851907	14531	20	G	T	T	T	429	33	SEMG2	2	2
KCNG1	3755	broad.mit.edu	37	20	49626462	49626462	+	Silent	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:49626462C>A	uc002xwa.3	-	c.414G>T	c.(412-414)CTG>CTT	p.L138L	KCNG1_uc002xwb.2_Silent_p.L138L	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	138	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2														0.15	14.636516	21.682822	9	51	KEEP	---	---	---	---	capture		Silent	SNP	49626462	49626462	8332	20	C	A	A	A	314	25	KCNG1	2	2
KCNG1	3755	broad.mit.edu	37	20	49626477	49626477	+	Silent	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:49626477C>A	uc002xwa.3	-	c.399G>T	c.(397-399)GCG>GCT	p.A133A	KCNG1_uc002xwb.2_Silent_p.A133A	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	133	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2														0.123077	10.657721	19.691352	8	57	KEEP	---	---	---	---	capture		Silent	SNP	49626477	49626477	8332	20	C	A	A	A	288	23	KCNG1	1	1
TSHZ2	128553	broad.mit.edu	37	20	51872757	51872757	+	Silent	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:51872757C>T	uc002xwo.2	+	c.2760C>T	c.(2758-2760)GAC>GAT	p.D920D		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	920					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4			STAD - Stomach adenocarcinoma(23;0.1)											0.180851	30.612849	39.619679	17	77	KEEP	---	---	---	---	capture		Silent	SNP	51872757	51872757	17175	20	C	T	T	T	220	17	TSHZ2	2	2
PRPF6	24148	broad.mit.edu	37	20	62612636	62612636	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:62612636C>T	uc002yho.2	+	c.38C>T	c.(37-39)GCG>GTG	p.A13V	PRPF6_uc002yhp.2_Missense_Mutation_p.A13V|SAMD10_uc002yhm.2_5'Flank|SAMD10_uc002yhn.2_5'Flank	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	13					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)													0.25	12.365219	13.501614	5	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62612636	62612636	13017	20	C	T	T	T	351	27	PRPF6	1	1
PLCB4	5332	broad.mit.edu	37	20	9416206	9416206	+	Splice_Site_SNP	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:9416206G>T	uc002wne.2	+	c.2489_splice	c.e27-1	p.D830_splice	PLCB4_uc010gbw.1_Splice_Site_SNP_p.D830_splice|PLCB4_uc010gbx.2_Splice_Site_SNP_p.D842_splice|PLCB4_uc002wnf.2_Splice_Site_SNP_p.D830_splice|PLCB4_uc002wnh.2_Splice_Site_SNP_p.D677_splice	NM_000933	NP_000924			phospholipase C beta 4 isoform a						intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			ovary(3)|pancreas(1)|skin(1)	5														0.117647	5.918804	15.785239	8	60	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	9416206	9416206	12456	20	G	T	T	T	429	33	PLCB4	5	2
PAK7	57144	broad.mit.edu	37	20	9523281	9523281	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:9523281C>A	uc002wnl.2	-	c.1956G>T	c.(1954-1956)ATG>ATT	p.M652I	PAK7_uc002wnk.2_Missense_Mutation_p.M652I|PAK7_uc002wnj.2_Missense_Mutation_p.M652I|PAK7_uc010gby.1_Intron	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	p21-activated kinase 7	652	Protein kinase.				protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity			lung(7)|skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	15			COAD - Colon adenocarcinoma(9;0.194)							177				0.14557	33.672775	52.859773	23	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9523281	9523281	11821	20	C	A	A	A	325	25	PAK7	2	2
CYYR1	116159	broad.mit.edu	37	21	27945240	27945240	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:27945240G>T	uc002yme.2	-	c.20C>A	c.(19-21)CCC>CAC	p.P7H	CYYR1_uc002ymd.2_Missense_Mutation_p.P7H|CYYR1_uc011ack.1_Non-coding_Transcript	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	cysteine and tyrosine-rich 1 protein precursor	7						integral to membrane					0														0.125	10.736778	21.696859	10	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27945240	27945240	4376	21	G	T	T	T	559	43	CYYR1	2	2
GRIK1	2897	broad.mit.edu	37	21	30934151	30934151	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:30934151T>A	uc011acs.1	-	c.2150A>T	c.(2149-2151)TAT>TTT	p.Y717F	GRIK1_uc002ynn.2_Missense_Mutation_p.Y702F|GRIK1_uc011act.1_Missense_Mutation_p.Y578F|GRIK1_uc002yno.1_Missense_Mutation_p.Y717F	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	717	Extracellular (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|Topiramate(DB00273)					608				0.121212	4.785447	9.418976	4	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30934151	30934151	7052	21	T	A	A	A	637	49	GRIK1	3	3
GCFC1	94104	broad.mit.edu	37	21	34143677	34143677	+	Silent	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:34143677C>A	uc002yqn.2	-	c.303G>T	c.(301-303)GTG>GTT	p.V101V	GCFC1_uc002yqo.2_Non-coding_Transcript|GCFC1_uc002yqp.2_Silent_p.V101V|GCFC1_uc002yqr.2_Silent_p.V101V|C21orf49_uc002yqs.2_5'Flank|C21orf49_uc002yqu.3_5'Flank|C21orf49_uc002yqt.2_5'Flank	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN	GC-rich sequence DNA-binding factor candidate	101					regulation of transcription, DNA-dependent	cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2														0.142857	4.113954	6.693205	3	18	KEEP	---	---	---	---	capture		Silent	SNP	34143677	34143677	6555	21	C	A	A	A	314	25	GCFC1	2	2
SETD4	54093	broad.mit.edu	37	21	37429497	37429497	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:37429497C>A	uc002yuw.1	-	c.79G>T	c.(79-81)GAG>TAG	p.E27*	SETD4_uc002yux.1_Nonsense_Mutation_p.E3*|SETD4_uc002yuu.2_Non-coding_Transcript|SETD4_uc002yuv.2_Nonsense_Mutation_p.E27*|SETD4_uc002yuy.2_Nonsense_Mutation_p.E27*|SETD4_uc002yuz.2_Nonsense_Mutation_p.E3*|SETD4_uc002yva.2_Nonsense_Mutation_p.E3*	NM_017438	NP_059134	Q9NVD3	SETD4_HUMAN	SET domain containing 4 isoform a	27										large_intestine(1)|ovary(1)	2														0.150794	31.833374	46.565306	19	107	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	37429497	37429497	14622	21	C	A	A	A	377	29	SETD4	5	2
IGSF5	150084	broad.mit.edu	37	21	41165524	41165524	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:41165524G>A	uc002yyo.2	+	c.1112G>A	c.(1111-1113)TGT>TAT	p.C371Y		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily 5 like	371	Cytoplasmic (Potential).					integral to membrane|tight junction					0		Prostate(19;5.35e-06)												0.130435	27.259953	48.657733	21	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41165524	41165524	7903	21	G	A	A	A	624	48	IGSF5	2	2
PFKL	5211	broad.mit.edu	37	21	45730918	45730918	+	Silent	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:45730918G>A	uc002zel.2	+	c.189G>A	c.(187-189)GAG>GAA	p.E63E	PFKL_uc002zek.2_Silent_p.E110E|PFKL_uc011afd.1_Silent_p.E110E	NM_002626	NP_002617	P17858	K6PL_HUMAN	liver phosphofructokinase	63					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding				0				Colorectal(79;0.0811)										0.106796	9.488636	25.261694	11	92	KEEP	---	---	---	---	capture		Silent	SNP	45730918	45730918	12186	21	G	A	A	A	425	33	PFKL	2	2
TRPM2	7226	broad.mit.edu	37	21	45825813	45825813	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:45825813G>T	uc010gpt.1	+	c.2683G>T	c.(2683-2685)GGG>TGG	p.G895W	TRPM2_uc002zet.1_Missense_Mutation_p.G895W|TRPM2_uc002zeu.1_Missense_Mutation_p.G895W|TRPM2_uc002zew.1_Missense_Mutation_p.G895W|TRPM2_uc002zex.1_Missense_Mutation_p.G681W|TRPM2_uc002zey.1_Missense_Mutation_p.G408W	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	895	Extracellular (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.186364	81.617704	101.882698	41	179	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45825813	45825813	17137	21	G	T	T	T	507	39	TRPM2	1	1
DIP2A	23181	broad.mit.edu	37	21	47976893	47976893	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:47976893G>C	uc002zjo.2	+	c.3540G>C	c.(3538-3540)AAG>AAC	p.K1180N	DIP2A_uc011afz.1_Missense_Mutation_p.K1176N|DIP2A_uc002zjr.2_Missense_Mutation_p.K147N	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	1180					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)										0.466667	25.324276	25.338757	7	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47976893	47976893	4706	21	G	C	C	C	438	34	DIP2A	3	3
MICAL3	57553	broad.mit.edu	37	22	18300618	18300618	+	Silent	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:18300618G>A	uc002zng.3	-	c.4809C>T	c.(4807-4809)TCC>TCT	p.S1603S	MICAL3_uc011agl.1_Silent_p.S1519S|MICAL3_uc010gre.1_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	1603					oxidation-reduction process	cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)										0.206897	14.245594	16.545766	6	23	KEEP	---	---	---	---	capture		Silent	SNP	18300618	18300618	9961	22	G	A	A	A	496	39	MICAL3	1	1
MICAL3	57553	broad.mit.edu	37	22	18301586	18301586	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:18301586G>A	uc002zng.3	-	c.3841C>T	c.(3841-3843)CGC>TGC	p.R1281C	MICAL3_uc011agl.1_Missense_Mutation_p.R1197C	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	1281	Pro-rich.				oxidation-reduction process	cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)										0.135135	20.164508	34.476606	15	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18301586	18301586	9961	22	G	A	A	A	520	40	MICAL3	1	1
HIRA	7290	broad.mit.edu	37	22	19365548	19365549	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:19365548_19365549CC>AA	uc002zpf.1	-	c.1456_1457GG>TT	c.(1456-1458)GGC>TTC	p.G486F	HIRA_uc011agx.1_Missense_Mutation_p.G352F|HIRA_uc010grn.1_Missense_Mutation_p.G486F|HIRA_uc010gro.1_Missense_Mutation_p.G442F|HIRA_uc010grp.2_Non-coding_Transcript	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	486	Interaction with CCNA1.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulator activity			ovary(1)	1	Colorectal(54;0.0993)													0.074803	-4.277206	42.757749	19	235	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	19365548	19365549	7405	22	CC	AA	AA	AA	338	26	HIRA	2	2
PIWIL3	440822	broad.mit.edu	37	22	25121445	25121445	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:25121445C>G	uc003abd.1	-	c.2074G>C	c.(2074-2076)GAG>CAG	p.E692Q	PIWIL3_uc011ajx.1_Missense_Mutation_p.E574Q|PIWIL3_uc011ajy.1_Missense_Mutation_p.E574Q|PIWIL3_uc010gut.1_Missense_Mutation_p.E683Q	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	piwi-like 3	692	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			ovary(3)|central_nervous_system(1)	4														0.121212	30.20079	48.763277	16	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25121445	25121445	12383	22	C	G	G	G	416	32	PIWIL3	3	3
MYO18B	84700	broad.mit.edu	37	22	26164338	26164338	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:26164338A>T	uc003abz.1	+	c.455A>T	c.(454-456)GAT>GTT	p.D152V	MYO18B_uc003aca.1_Missense_Mutation_p.D33V|MYO18B_uc010guy.1_Missense_Mutation_p.D33V|MYO18B_uc010guz.1_Missense_Mutation_p.D33V|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	152						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12										968				0.166667	14.880239	19.929307	8	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26164338	26164338	10461	22	A	T	T	T	156	12	MYO18B	3	3
SEZ6L	23544	broad.mit.edu	37	22	26706764	26706764	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:26706764A>T	uc003acb.2	+	c.1643A>T	c.(1642-1644)CAG>CTG	p.Q548L	SEZ6L_uc003acc.2_Missense_Mutation_p.Q548L|SEZ6L_uc011akc.1_Missense_Mutation_p.Q548L|SEZ6L_uc003acd.2_Missense_Mutation_p.Q548L|SEZ6L_uc011akd.1_Missense_Mutation_p.Q548L|SEZ6L_uc003ace.2_Missense_Mutation_p.Q548L|SEZ6L_uc003acf.1_Missense_Mutation_p.Q321L|SEZ6L_uc010gvc.1_Missense_Mutation_p.Q321L	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	548	CUB 2.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane				ovary(4)|central_nervous_system(1)|pancreas(1)	6														0.086667	2.775427	28.717455	13	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26706764	26706764	14632	22	A	T	T	T	91	7	SEZ6L	3	3
TBC1D10A	83874	broad.mit.edu	37	22	30691010	30691010	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:30691010T>A	uc010gvu.2	-	c.580A>T	c.(580-582)ACG>TCG	p.T194S	GATSL3_uc003ahf.2_Non-coding_Transcript|GATSL3_uc003ahg.2_Non-coding_Transcript|GATSL3_uc003ahh.2_Non-coding_Transcript|GATSL3_uc010gvq.2_Non-coding_Transcript|GATSL3_uc003ahi.2_Missense_Mutation_p.T45S|TBC1D10A_uc011akt.1_Missense_Mutation_p.T187S|TBC1D10A_uc003ahj.3_Missense_Mutation_p.T99S|TBC1D10A_uc003ahk.3_Missense_Mutation_p.T187S	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	187	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			ovary(1)	1														0.144231	28.965848	41.627837	15	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30691010	30691010	16120	22	T	A	A	A	767	59	TBC1D10A	3	3
TRIOBP	11078	broad.mit.edu	37	22	38121216	38121216	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:38121216C>T	uc003atr.2	+	c.2653C>T	c.(2653-2655)CGC>TGC	p.R885C	TRIOBP_uc003atu.2_Missense_Mutation_p.R713C|TRIOBP_uc003atq.1_Missense_Mutation_p.R885C|TRIOBP_uc003ats.1_Missense_Mutation_p.R713C	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	885					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)													0.043605	-45.06469	31.727705	15	329	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38121216	38121216	17103	22	C	T	T	T	299	23	TRIOBP	1	1
CACNA1I	8911	broad.mit.edu	37	22	40055839	40055839	+	Silent	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:40055839G>T	uc003ayc.2	+	c.2586G>T	c.(2584-2586)GTG>GTT	p.V862V	CACNA1I_uc003ayd.2_Silent_p.V827V|CACNA1I_uc003aye.2_Silent_p.V777V|CACNA1I_uc003ayf.2_Silent_p.V742V	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	862	Helical; Name=S6 of repeat II; (Potential).|II.				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)									0.114286	12.345089	27.73076	12	93	KEEP	---	---	---	---	capture		Silent	SNP	40055839	40055839	2662	22	G	T	T	T	600	47	CACNA1I	2	2
ZBED4	9889	broad.mit.edu	37	22	50277987	50277987	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:50277987C>G	uc003bix.2	+	c.677C>G	c.(676-678)TCT>TGT	p.S226C		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	226						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)										0.113043	20.185524	37.184064	13	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50277987	50277987	18104	22	C	G	G	G	416	32	ZBED4	3	3
SLC9A2	6549	broad.mit.edu	37	2	103311549	103311549	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:103311549G>C	uc002tca.2	+	c.1563G>C	c.(1561-1563)TGG>TGC	p.W521C		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	solute carrier family 9 (sodium/hydrogen	521	Cytoplasmic (Potential).					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			central_nervous_system(3)|breast(2)	5														0.056522	-17.120606	30.409761	13	217	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103311549	103311549	15209	2	G	C	C	C	559	43	SLC9A2	3	3
SULT1C4	27233	broad.mit.edu	37	2	108998221	108998221	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:108998221C>A	uc002tea.1	+	c.173C>A	c.(172-174)ACA>AAA	p.T58K	SULT1C4_uc002tdz.2_Missense_Mutation_p.T58K|SULT1C4_uc010ywr.1_Non-coding_Transcript|SULT1C4_uc002teb.1_Missense_Mutation_p.T58K	NM_006588	NP_006579	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member	58	PAPS.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity				0														0.172727	43.054513	54.183708	19	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108998221	108998221	15899	2	C	A	A	A	221	17	SULT1C4	2	2
CNTNAP5	129684	broad.mit.edu	37	2	125660630	125660630	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:125660630T>C	uc010flu.2	+	c.3608T>C	c.(3607-3609)ATG>ACG	p.M1203T	CNTNAP5_uc002tno.2_Missense_Mutation_p.M1202T	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	1202	Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)										0.157895	4.312047	6.434165	3	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125660630	125660630	3788	2	T	C	C	C	663	51	CNTNAP5	4	4
ZEB2	9839	broad.mit.edu	37	2	145157678	145157678	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:145157678G>C	uc002tvu.2	-	c.1076C>G	c.(1075-1077)TCT>TGT	p.S359C	ZEB2_uc002tvv.2_Missense_Mutation_p.S353C|ZEB2_uc010zbm.1_Missense_Mutation_p.S330C|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.S388C	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	359					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|large_intestine(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.112)		Melanoma(33;1235 1264 5755 16332)								0.223684	52.133706	57.468143	17	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145157678	145157678	18212	2	G	C	C	C	429	33	ZEB2	3	3
NEB	4703	broad.mit.edu	37	2	152387542	152387542	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:152387542A>T	uc010fnx.2	-	c.16493T>A	c.(16492-16494)CTG>CAG	p.L5498Q	NEB_uc002txr.2_Missense_Mutation_p.L1921Q|NEB_uc002txt.3_Missense_Mutation_p.L3Q	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	5498	Nebulin 150.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(1)|skin(1)|pancreas(1)	19				BRCA - Breast invasive adenocarcinoma(221;0.219)										0.142857	14.162045	21.046223	8	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152387542	152387542	10701	2	A	T	T	T	91	7	NEB	3	3
ERMN	57471	broad.mit.edu	37	2	158181913	158181913	+	Splice_Site_SNP	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:158181913C>A	uc002tzi.2	-	c.280_splice	c.e2+1	p.E94_splice	ERMN_uc010zcj.1_5'Flank|ERMN_uc002tzh.2_Intron|ERMN_uc010zck.1_Intron	NM_001009959	NP_001009959			ermin, ERM-like protein isoform a							cytoplasm|cytoskeleton				ovary(1)	1														0.117647	16.322356	30.984303	12	90	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	158181913	158181913	5428	2	C	A	A	A	234	18	ERMN	5	2
IFIH1	64135	broad.mit.edu	37	2	163133444	163133444	+	Missense_Mutation	SNP	A	G	G			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:163133444A>G	uc002uce.2	-	c.2057T>C	c.(2056-2058)ATG>ACG	p.M686T		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	686					innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|regulation of apoptosis|response to virus	cytosol|nucleus	ATP binding|DNA binding|helicase activity|protein binding|ribonucleoprotein binding|RNA binding|zinc ion binding			ovary(1)	1														0.147826	35.304931	48.994296	17	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	163133444	163133444	7821	2	A	G	G	G	104	8	IFIH1	4	4
KCNH7	90134	broad.mit.edu	37	2	163230172	163230172	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:163230172C>A	uc002uch.1	-	c.3132G>T	c.(3130-3132)AGG>AGT	p.R1044S		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	1044	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)	3					Ibutilide(DB00308)	GBM(196;1492 2208 17507 24132 45496)								0.14	10.289583	16.548984	7	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	163230172	163230172	8342	2	C	A	A	A	337	26	KCNH7	2	2
XIRP2	129446	broad.mit.edu	37	2	168106328	168106328	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168106328G>T	uc002udx.2	+	c.8426G>T	c.(8425-8427)GGA>GTA	p.G2809V	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.G2634V|XIRP2_uc010fpq.2_Missense_Mutation_p.G2587V|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.G155V	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2634					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.2	46.952158	56.586004	23	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168106328	168106328	18011	2	G	T	T	T	533	41	XIRP2	2	2
GULP1	51454	broad.mit.edu	37	2	189406035	189406035	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:189406035G>T	uc010fru.2	+	c.389G>T	c.(388-390)AGC>ATC	p.S130I	GULP1_uc002uqc.3_Missense_Mutation_p.S130I|GULP1_uc002uqd.2_Missense_Mutation_p.S130I|GULP1_uc010zfw.1_Intron|GULP1_uc002uqe.2_Missense_Mutation_p.S130I|GULP1_uc002uqf.2_Missense_Mutation_p.S130I|GULP1_uc002uqg.2_Missense_Mutation_p.S130I	NM_016315	NP_057399	Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing	130	PID.				apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			Pancreas(178;563 2065 20199 42378 52815)								0.109589	13.566176	35.668689	16	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189406035	189406035	7181	2	G	T	T	T	442	34	GULP1	2	2
ICA1L	130026	broad.mit.edu	37	2	203682164	203682164	+	Missense_Mutation	SNP	A	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:203682164A>C	uc002uzh.1	-	c.661T>G	c.(661-663)TCT>GCT	p.S221A	ICA1L_uc002uzi.1_Missense_Mutation_p.S221A	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like isoform 1	221	AH.										0														0.039604	-13.070655	10.00014	4	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	203682164	203682164	7778	2	A	C	C	C	156	12	ICA1L	4	4
DYTN	391475	broad.mit.edu	37	2	207527706	207527706	+	Silent	SNP	T	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:207527706T>C	uc002vbr.1	-	c.1554A>G	c.(1552-1554)AGA>AGG	p.R518R		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	dystrotelin	518	Potential.					plasma membrane	zinc ion binding			ovary(1)	1				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)										0.05814	-8.641995	26.508864	10	162	KEEP	---	---	---	---	capture		Silent	SNP	207527706	207527706	5047	2	T	C	C	C	803	62	DYTN	4	4
CPS1	1373	broad.mit.edu	37	2	211527847	211527847	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:211527847G>T	uc010fur.2	+	c.3946G>T	c.(3946-3948)GCT>TCT	p.A1316S	CPS1_uc002vee.3_Missense_Mutation_p.A1310S|CPS1_uc010fus.2_Missense_Mutation_p.A859S	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform a	1310					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)										0.202899	28.002157	33.593421	14	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	211527847	211527847	3961	2	G	T	T	T	546	42	CPS1	2	2
APOB	338	broad.mit.edu	37	2	21255418	21255419	+	Missense_Mutation	DNP	TG	GT	GT			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21255418_21255419TG>GT	uc002red.2	-	c.1159_1160CA>AC	c.(1159-1161)CAG>ACG	p.Q387T		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	387	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus|very-low-density lipoprotein particle assembly	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|central_nervous_system(3)|large_intestine(2)|pancreas(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)									0.193548	27.669012	33.099966	12	50	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	21255418	21255419	796	2	TG	GT	GT	GT	715	55	APOB	4	4
PLCD4	84812	broad.mit.edu	37	2	219495489	219495489	+	Silent	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219495489G>A	uc002vij.1	+	c.1236G>A	c.(1234-1236)TTG>TTA	p.L412L	PLCD4_uc010zkk.1_Intron	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	412	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)	3		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)										0.098039	4.4346	12.683162	5	46	KEEP	---	---	---	---	capture		Silent	SNP	219495489	219495489	12459	2	G	A	A	A	607	47	PLCD4	2	2
STK36	27148	broad.mit.edu	37	2	219553476	219553476	+	Silent	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219553476G>T	uc002viu.2	+	c.1437G>T	c.(1435-1437)CTG>CTT	p.L479L	STK36_uc002viv.2_Silent_p.L479L	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	479					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development|protein phosphorylation	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|transcription factor binding			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)	8		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)						551				0.142012	64.744886	106.553713	48	290	KEEP	---	---	---	---	capture		Silent	SNP	219553476	219553476	15822	2	G	T	T	T	574	45	STK36	2	2
CYP27A1	1593	broad.mit.edu	37	2	219679287	219679287	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219679287A>T	uc002viz.3	+	c.1283A>T	c.(1282-1284)CAC>CTC	p.H428L		NM_000784	NP_000775	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A,	428					bile acid biosynthetic process|oxidation-reduction process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)									0.172619	57.53314	74.617529	29	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	219679287	219679287	4323	2	A	T	T	T	78	6	CYP27A1	3	3
CCDC108	255101	broad.mit.edu	37	2	219896345	219896345	+	Silent	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219896345C>T	uc002vjl.1	-	c.681G>A	c.(679-681)GCG>GCA	p.A227A	CCDC108_uc010fwa.1_5'Flank|CCDC108_uc010zkp.1_Silent_p.A216A|CCDC108_uc010zkq.1_Silent_p.A162A	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	227						integral to membrane	structural molecule activity			ovary(2)|pancreas(1)	3		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.186528	73.794602	91.562779	36	157	KEEP	---	---	---	---	capture		Silent	SNP	219896345	219896345	2863	2	C	T	T	T	288	23	CCDC108	1	1
DOCK10	55619	broad.mit.edu	37	2	225688308	225688308	+	Silent	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:225688308G>T	uc010fwz.1	-	c.3093C>A	c.(3091-3093)GTC>GTA	p.V1031V	DOCK10_uc002vob.2_Silent_p.V1025V	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1031							GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)										0.165049	30.829673	41.783693	17	86	KEEP	---	---	---	---	capture		Silent	SNP	225688308	225688308	4869	2	G	T	T	T	574	45	DOCK10	2	2
SLC19A3	80704	broad.mit.edu	37	2	228552161	228552161	+	Silent	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:228552161C>A	uc002vpi.2	-	c.1443G>T	c.(1441-1443)GTG>GTT	p.V481V	SLC19A3_uc002vpj.2_Non-coding_Transcript|SLC19A3_uc010zlv.1_Silent_p.V477V	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN	solute carrier family 19, member 3	481	Cytoplasmic (Potential).				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			ovary(2)	2		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)									0.171053	53.848762	69.405711	26	126	KEEP	---	---	---	---	capture		Silent	SNP	228552161	228552161	14926	2	C	A	A	A	210	17	SLC19A3	2	2
UGT1A10	54575	broad.mit.edu	37	2	234545440	234545440	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:234545440T>A	uc002vur.2	+	c.272T>A	c.(271-273)ATG>AAG	p.M91K	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Missense_Mutation_p.M91K	NM_019075	NP_061948	Q9HAW8	UD110_HUMAN	UDP glycosyltransferase 1 family, polypeptide	91					flavone metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding			ovary(2)	2		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)										0.147959	56.454585	79.765683	29	167	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	234545440	234545440	17503	2	T	A	A	A	663	51	UGT1A10	3	3
ESPNL	339768	broad.mit.edu	37	2	239013434	239013434	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:239013434C>G	uc002vxq.3	+	c.623C>G	c.(622-624)GCC>GGC	p.A208G	ESPNL_uc010fyw.2_5'Flank	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	espin-like	208	ANK 7.									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)										0.3	9.242006	9.587536	3	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	239013434	239013434	5448	2	C	G	G	G	338	26	ESPNL	3	3
EPT1	85465	broad.mit.edu	37	2	26587740	26587740	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:26587740C>T	uc010ykz.1	+	c.167C>T	c.(166-168)TCT>TTT	p.S56F	EPT1_uc010eyl.1_Non-coding_Transcript	NM_033505	NP_277040	Q9C0D9	EPT1_HUMAN	selenoprotein I	56	Helical; (Potential).				phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding				0														0.191781	30.00444	36.486211	14	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26587740	26587740	5392	2	C	T	T	T	416	32	EPT1	2	2
SIX3	6496	broad.mit.edu	37	2	45169954	45169954	+	Silent	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:45169954C>T	uc002run.1	+	c.711C>T	c.(709-711)CGC>CGT	p.R237R		NM_005413	NP_005404	O95343	SIX3_HUMAN	SIX homeobox 3	237	Homeobox.				visual perception	nucleus					0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)												0.076923	-1.475817	10.436282	5	60	KEEP	---	---	---	---	capture		Silent	SNP	45169954	45169954	14843	2	C	T	T	T	340	27	SIX3	1	1
MDH1	4190	broad.mit.edu	37	2	63824683	63824683	+	Missense_Mutation	SNP	A	G	G			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:63824683A>G	uc010ypv.1	+	c.404A>G	c.(403-405)GAT>GGT	p.D135G	MDH1_uc002scj.1_Missense_Mutation_p.D117G|MDH1_uc010ypw.1_Missense_Mutation_p.D22G	NM_005917	NP_005908	P40925	MDHC_HUMAN	cytosolic malate dehydrogenase	117					gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity			kidney(2)	2					NADH(DB00157)									0.068182	-1.309111	7.179628	3	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63824683	63824683	9797	2	A	G	G	G	156	12	MDH1	4	4
ETAA1	54465	broad.mit.edu	37	2	67630780	67630780	+	Silent	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:67630780G>A	uc002sdz.1	+	c.966G>A	c.(964-966)GAG>GAA	p.E322E		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	ETAA16 protein	322						cytoplasm|nucleus				ovary(3)|large_intestine(1)	4														0.048193	-9.375751	8.649829	4	79	KEEP	---	---	---	---	capture		Silent	SNP	67630780	67630780	5460	2	G	A	A	A	425	33	ETAA1	2	2
BMP10	27302	broad.mit.edu	37	2	69093486	69093486	+	Silent	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:69093486C>A	uc002sez.1	-	c.552G>T	c.(550-552)CTG>CTT	p.L184L		NM_014482	NP_055297	O95393	BMP10_HUMAN	bone morphogenetic protein 10 preproprotein	184					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			ovary(2)	2														0.118182	12.382505	28.16759	13	97	KEEP	---	---	---	---	capture		Silent	SNP	69093486	69093486	1482	2	C	A	A	A	262	21	BMP10	2	2
GKN1	56287	broad.mit.edu	37	2	69206066	69206066	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:69206066G>T	uc002sfc.2	+	c.310G>T	c.(310-312)GTC>TTC	p.V104F		NM_019617	NP_062563	Q9NS71	GKN1_HUMAN	18 kDa antrum mucosa protein precursor	104	BRICHOS.				digestion|positive regulation of cell division	extracellular region				breast(1)	1														0.166667	27.724602	35.94206	13	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69206066	69206066	6692	2	G	T	T	T	468	36	GKN1	2	2
ZNF638	27332	broad.mit.edu	37	2	71592757	71592757	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:71592757G>T	uc002shx.2	+	c.1916G>T	c.(1915-1917)TGT>TTT	p.C639F	ZNF638_uc010fec.2_Missense_Mutation_p.C745F|ZNF638_uc010yqw.1_Missense_Mutation_p.C218F|ZNF638_uc002shw.2_Missense_Mutation_p.C639F|ZNF638_uc002shy.2_Missense_Mutation_p.C639F|ZNF638_uc002shz.2_Missense_Mutation_p.C639F|ZNF638_uc002sia.2_Missense_Mutation_p.C639F|ZNF638_uc002sib.1_Missense_Mutation_p.C639F|ZNF638_uc010fed.2_Non-coding_Transcript	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	639					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)	3														0.235294	43.063869	47.422152	16	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71592757	71592757	18650	2	G	T	T	T	624	48	ZNF638	2	2
REG3A	5068	broad.mit.edu	37	2	79385822	79385822	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:79385822G>C	uc002sod.1	-	c.150C>G	c.(148-150)CAC>CAG	p.H50Q	REG3A_uc002soe.1_Missense_Mutation_p.H50Q|REG3A_uc002sof.1_Missense_Mutation_p.H50Q	NM_138938	NP_620355	Q06141	REG3A_HUMAN	pancreatitis-associated protein precursor	50	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding				0														0.076923	1.025412	12.932675	5	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79385822	79385822	13681	2	G	C	C	C	464	36	REG3A	3	3
TCF7L1	83439	broad.mit.edu	37	2	85533621	85533621	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:85533621C>T	uc002soy.2	+	c.1196C>T	c.(1195-1197)GCC>GTC	p.A399V		NM_031283	NP_112573	Q9HCS4	TF7L1_HUMAN	HMG-box transcription factor TCF-3	399	HMG box.				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2														0.1875	23.034043	28.833891	12	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85533621	85533621	16223	2	C	T	T	T	338	26	TCF7L1	2	2
ARID5A	10865	broad.mit.edu	37	2	97217674	97217674	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:97217674A>T	uc002swe.2	+	c.1409A>T	c.(1408-1410)GAT>GTT	p.D470V	ARID5A_uc010yuq.1_Missense_Mutation_p.D418V|ARID5A_uc002swf.2_Missense_Mutation_p.D306V|ARID5A_uc002swg.2_Missense_Mutation_p.D418V	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A	470					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|transcription repressor activity				0														0.236842	20.955914	23.361802	9	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97217674	97217674	936	2	A	T	T	T	156	12	ARID5A	3	3
CCDC54	84692	broad.mit.edu	37	3	107096514	107096514	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:107096514C>A	uc003dwi.1	+	c.80C>A	c.(79-81)TCT>TAT	p.S27Y		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	27											0														0.221106	94.281562	108.541861	44	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107096514	107096514	2947	3	C	A	A	A	416	32	CCDC54	2	2
CD96	10225	broad.mit.edu	37	3	111343207	111343207	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:111343207G>T	uc003dxw.2	+	c.1325G>T	c.(1324-1326)GGC>GTC	p.G442V	CD96_uc003dxx.2_Missense_Mutation_p.G426V|CD96_uc010hpy.1_Missense_Mutation_p.G426V	NM_198196	NP_937839	P40200	TACT_HUMAN	CD96 antigen isoform 1 precursor	442	Extracellular (Potential).|Pro/Ser/Thr-rich.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)	1														0.210526	87.920258	102.632032	40	150	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111343207	111343207	3176	3	G	T	T	T	546	42	CD96	2	2
DRD3	1814	broad.mit.edu	37	3	113858370	113858370	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:113858370C>A	uc003ebd.2	-	c.700G>T	c.(700-702)GTC>TTC	p.V234F	DRD3_uc010hqn.1_Missense_Mutation_p.V234F|DRD3_uc003ebb.1_Missense_Mutation_p.V234F|DRD3_uc003ebc.1_Missense_Mutation_p.V234F	NM_000796	NP_000787	P35462	DRD3_HUMAN	dopamine receptor D3 isoform a	234	Cytoplasmic.				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|dopamine metabolic process|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|regulation of dopamine uptake|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)									0.206767	129.25113	150.487745	55	211	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113858370	113858370	4942	3	C	A	A	A	221	17	DRD3	2	2
FSTL1	11167	broad.mit.edu	37	3	120122105	120122105	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:120122105G>T	uc003eds.2	-	c.678C>A	c.(676-678)TTC>TTA	p.F226L	FSTL1_uc011bjh.1_Missense_Mutation_p.F191L	NM_007085	NP_009016	Q12841	FSTL1_HUMAN	follistatin-like 1 precursor	226	EF-hand 2.				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(114;0.189)										0.095238	5.879873	23.137408	10	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120122105	120122105	6328	3	G	T	T	T	581	45	FSTL1	2	2
MYLK	4638	broad.mit.edu	37	3	123419703	123419703	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:123419703C>A	uc003ego.2	-	c.2612G>T	c.(2611-2613)GGG>GTG	p.G871V	MYLK_uc011bjw.1_Missense_Mutation_p.G871V|MYLK_uc003egp.2_Missense_Mutation_p.G802V|MYLK_uc003egq.2_Missense_Mutation_p.G871V|MYLK_uc003egr.2_Missense_Mutation_p.G802V|MYLK_uc003egs.2_Missense_Mutation_p.G695V|MYLK_uc003egt.2_Missense_Mutation_p.G62V	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	871	5 X 28 AA approximate tandem repeats.|1-1.				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				0.179487	45.10552	60.225661	28	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123419703	123419703	10451	3	C	A	A	A	286	22	MYLK	2	2
PIK3R4	30849	broad.mit.edu	37	3	130463491	130463491	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:130463491C>A	uc003enj.2	-	c.572G>T	c.(571-573)CGG>CTG	p.R191L		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	191	Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|protein phosphorylation	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|kidney(1)|breast(1)|central_nervous_system(1)	6										587				0.10989	12.399945	26.091977	10	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130463491	130463491	12345	3	C	A	A	A	299	23	PIK3R4	1	1
A4GNT	51146	broad.mit.edu	37	3	137843529	137843529	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:137843529G>T	uc003ers.2	-	c.600C>A	c.(598-600)CAC>CAA	p.H200Q		NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	200	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)	1														0.096591	10.78468	39.458711	17	159	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137843529	137843529	8	3	G	T	T	T	568	44	A4GNT	2	2
PRR23B	389151	broad.mit.edu	37	3	138738865	138738865	+	Silent	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:138738865G>T	uc003esy.1	-	c.639C>A	c.(637-639)CCC>CCA	p.P213P		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	proline rich 23B	213	Pro-rich.									breast(1)	1														0.048193	-9.565069	8.450572	4	79	KEEP	---	---	---	---	capture		Silent	SNP	138738865	138738865	13043	3	G	T	T	T	600	47	PRR23B	2	2
TFDP2	7029	broad.mit.edu	37	3	141671484	141671484	+	Silent	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:141671484G>A	uc003eun.3	-	c.1212C>T	c.(1210-1212)TTC>TTT	p.F404F	TFDP2_uc003euk.3_Silent_p.F317F|TFDP2_uc010hur.2_Silent_p.F344F|TFDP2_uc003eul.3_Silent_p.F344F|TFDP2_uc011bnf.1_Silent_p.F307F|TFDP2_uc011bng.1_Silent_p.F268F|TFDP2_uc003eum.3_Silent_p.F344F	NM_006286	NP_006277	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization	404					cell cycle|regulation of transcription, DNA-dependent	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)	1														0.12766	15.129573	27.841175	12	82	KEEP	---	---	---	---	capture		Silent	SNP	141671484	141671484	16326	3	G	A	A	A	529	41	TFDP2	2	2
CPA3	1359	broad.mit.edu	37	3	148586769	148586769	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:148586769G>A	uc003ewm.2	+	c.212G>A	c.(211-213)AGT>AAT	p.S71N		NM_001870	NP_001861	P15088	CBPA3_HUMAN	carboxypeptidase A3 precursor	71					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			breast(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)											0.097222	5.117204	16.776661	7	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148586769	148586769	3929	3	G	A	A	A	468	36	CPA3	2	2
SI	6476	broad.mit.edu	37	3	164710138	164710138	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164710138C>A	uc003fei.2	-	c.4889G>T	c.(4888-4890)TGG>TTG	p.W1630L		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1630	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|pancreas(1)	8		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)									0.142857	6.479921	9.922537	4	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164710138	164710138	14792	3	C	A	A	A	273	21	SI	2	2
SLC7A14	57709	broad.mit.edu	37	3	170219103	170219103	+	Silent	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:170219103G>A	uc003fgz.2	-	c.336C>T	c.(334-336)GTC>GTT	p.V112V	CLDN11_uc011bpt.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	112						integral to membrane	amino acid transmembrane transporter activity			ovary(2)|liver(1)|central_nervous_system(1)	4	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)											0.136364	8.116918	13.757021	6	38	KEEP	---	---	---	---	capture		Silent	SNP	170219103	170219103	15193	3	G	A	A	A	522	41	SLC7A14	2	2
GHSR	2693	broad.mit.edu	37	3	172163255	172163255	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:172163255G>T	uc003fib.1	-	c.797C>A	c.(796-798)GCT>GAT	p.A266D		NM_198407	NP_940799	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor isoform 1a	266	Helical; Name=6; (Potential).				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			ovary(1)|central_nervous_system(1)	2	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			Esophageal Squamous(93;641 1401 20883 29581 34638)								0.3	7.920409	8.278211	3	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	172163255	172163255	6643	3	G	T	T	T	442	34	GHSR	2	2
FXR1	8087	broad.mit.edu	37	3	180685989	180685989	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:180685989C>T	uc003fkq.2	+	c.1349C>T	c.(1348-1350)TCA>TTA	p.S450L	FXR1_uc003fkp.2_Missense_Mutation_p.S365L|FXR1_uc003fkr.2_Missense_Mutation_p.S450L|FXR1_uc011bqj.1_Missense_Mutation_p.S364L|FXR1_uc003fks.2_Missense_Mutation_p.S393L|FXR1_uc011bqk.1_Missense_Mutation_p.S401L|FXR1_uc011bql.1_Missense_Mutation_p.S437L	NM_005087	NP_005078	P51114	FXR1_HUMAN	fragile X mental retardation-related protein 1	450	RNA-binding RGG-box.				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(1)	1	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)											0.2	22.393875	26.998417	11	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	180685989	180685989	6366	3	C	T	T	T	377	29	FXR1	2	2
HTR3C	170572	broad.mit.edu	37	3	183773977	183773977	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183773977C>A	uc003fmk.2	+	c.292C>A	c.(292-294)CCT>ACT	p.P98T		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine receptor 3 subunit C	98	Extracellular (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)											0.085714	-1.618959	22.761383	12	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183773977	183773977	7746	3	C	A	A	A	390	30	HTR3C	2	2
LRRC33	375387	broad.mit.edu	37	3	196388131	196388131	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:196388131G>T	uc003fwv.2	+	c.1617G>T	c.(1615-1617)AGG>AGT	p.R539S		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	leucine rich repeat containing 33 precursor	539	Extracellular (Potential).|LRR 19.					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)										0.096639	13.31386	52.066538	23	215	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196388131	196388131	9363	3	G	T	T	T	555	43	LRRC33	2	2
DCLK3	85443	broad.mit.edu	37	3	36779841	36779841	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:36779841G>T	uc003cgi.2	-	c.310C>A	c.(310-312)CCC>ACC	p.P104T		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	104					protein phosphorylation	cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			lung(3)|large_intestine(2)|ovary(1)|breast(1)|kidney(1)	8										128				0.08642	5.389042	47.402803	21	222	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36779841	36779841	4464	3	G	T	T	T	572	44	DCLK3	2	2
SCN10A	6336	broad.mit.edu	37	3	38764936	38764936	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38764936C>A	uc003ciq.2	-	c.3337G>T	c.(3337-3339)GAC>TAC	p.D1113Y		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1113					sensory perception	voltage-gated sodium channel complex				ovary(5)|large_intestine(1)|kidney(1)|skin(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)									0.113402	12.349136	26.65784	11	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38764936	38764936	14394	3	C	A	A	A	377	29	SCN10A	2	2
CHL1	10752	broad.mit.edu	37	3	440019	440019	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:440019G>T	uc003bot.2	+	c.3204G>T	c.(3202-3204)TGG>TGT	p.W1068C	CHL1_uc003bou.2_Missense_Mutation_p.W1052C|CHL1_uc003bow.1_Missense_Mutation_p.W1052C|CHL1_uc011asi.1_Intron	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	1052	Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				central_nervous_system(4)|large_intestine(2)|ovary(1)	7		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)						659				0.065934	-4.927776	12.86509	6	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	440019	440019	3483	3	G	T	T	T	559	43	CHL1	2	2
ZNF445	353274	broad.mit.edu	37	3	44489616	44489616	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:44489616C>G	uc003cnf.2	-	c.1547G>C	c.(1546-1548)AGG>ACG	p.R516T	ZNF445_uc011azv.1_Missense_Mutation_p.R504T|ZNF445_uc011azw.1_Missense_Mutation_p.R516T	NM_181489	NP_852466	P59923	ZN445_HUMAN	zinc finger protein 445	516	C2H2-type 2.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)										0.041667	-19.278363	13.238887	6	138	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44489616	44489616	18511	3	C	G	G	G	312	24	ZNF445	3	3
ZNF167	55888	broad.mit.edu	37	3	44611702	44611702	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:44611702C>G	uc010hin.2	+	c.1100C>G	c.(1099-1101)TCT>TGT	p.S367C	ZNF167_uc003cnh.2_Non-coding_Transcript|ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Missense_Mutation_p.S216C|ZNF167_uc003cnj.2_Missense_Mutation_p.S367C|ZNF167_uc003cnk.2_Intron	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	zinc finger protein 167 isoform 1	367					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		Esophageal Squamous(121;907 1626 38429 48584 52774)								0.10119	23.384999	50.011278	17	151	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44611702	44611702	18332	3	C	G	G	G	416	32	ZNF167	3	3
TGM4	7047	broad.mit.edu	37	3	44943081	44943081	+	Silent	SNP	A	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:44943081A>C	uc003coc.3	+	c.723A>C	c.(721-723)ACA>ACC	p.T241T	TGM4_uc003cob.2_Non-coding_Transcript	NM_003241	NP_003232	P49221	TGM4_HUMAN	transglutaminase 4 (prostate)	241					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)									0.125	6.277728	10.673913	4	28	KEEP	---	---	---	---	capture		Silent	SNP	44943081	44943081	16360	3	A	C	C	C	80	7	TGM4	4	4
FYCO1	79443	broad.mit.edu	37	3	46006595	46006595	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:46006595C>A	uc011bal.1	-	c.3080G>T	c.(3079-3081)AGC>ATC	p.S1027I	FYCO1_uc003cpb.3_Missense_Mutation_p.S1027I	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1027	Potential.				transport	integral to membrane	protein binding|zinc ion binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)										0.083333	0.458753	11.018268	5	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46006595	46006595	6376	3	C	A	A	A	364	28	FYCO1	2	2
FYCO1	79443	broad.mit.edu	37	3	46023127	46023127	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:46023127C>A	uc011bal.1	-	c.97G>T	c.(97-99)GAA>TAA	p.E33*	FYCO1_uc003cpb.3_Nonsense_Mutation_p.E33*	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	33	Potential.				transport	integral to membrane	protein binding|zinc ion binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)										0.09396	2.317926	27.056541	14	135	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	46023127	46023127	6376	3	C	A	A	A	390	30	FYCO1	5	2
LTF	4057	broad.mit.edu	37	3	46485038	46485038	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:46485038C>A	uc003cpq.2	-	c.1549G>T	c.(1549-1551)GAC>TAC	p.D517Y	LTF_uc003fzr.2_Missense_Mutation_p.D473Y|LTF_uc010hjh.2_Missense_Mutation_p.D515Y|LTF_uc003cpr.2_Missense_Mutation_p.D504Y	NM_002343	NP_002334	P02788	TRFL_HUMAN	lactotransferrin precursor	517	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			central_nervous_system(2)|ovary(1)|lung(1)	4				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)									0.087432	1.837123	33.418018	16	167	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46485038	46485038	9455	3	C	A	A	A	377	29	LTF	2	2
RFT1	91869	broad.mit.edu	37	3	53160012	53160012	+	Splice_Site_SNP	SNP	T	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:53160012T>A	uc003dgj.2	-	c.64_splice	c.e2-1	p.V22_splice	RFT1_uc003dgk.2_Splice_Site_SNP_p.V22_splice	NM_052859	NP_443091			RFT1 homolog						carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity				0				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)										0.166667	7.986101	10.513413	4	20	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	53160012	53160012	13729	3	T	A	A	A	689	53	RFT1	5	3
EPHA3	2042	broad.mit.edu	37	3	89445045	89445045	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:89445045G>C	uc003dqy.2	+	c.1365G>C	c.(1363-1365)TTG>TTC	p.L455F	EPHA3_uc003dqx.1_Missense_Mutation_p.L455F|EPHA3_uc010hon.1_Non-coding_Transcript	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	455	Extracellular (Potential).|Fibronectin type-III 2.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding			lung(15)|ovary(7)|large_intestine(4)|central_nervous_system(2)|pancreas(1)	29	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)						416	TSP Lung(6;0.00050)			0.167247	120.645294	150.737954	48	239	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89445045	89445045	5361	3	G	C	C	C	620	48	EPHA3	3	3
ADH1B	125	broad.mit.edu	37	4	100239987	100239987	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:100239987C>A	uc003hus.3	-	c.75G>T	c.(73-75)GAG>GAT	p.E25D	ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_De_novo_Start_OutOfFrame|ADH1B_uc011ceh.1_De_novo_Start_OutOfFrame|ADH1B_uc011cei.1_De_novo_Start_OutOfFrame	NM_000668	NP_000659	P00325	ADH1B_HUMAN	class I alcohol dehydrogenase, beta subunit	25					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)									0.166667	37.882457	51.174939	21	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100239987	100239987	309	4	C	A	A	A	311	24	ADH1B	2	2
CLNK	116449	broad.mit.edu	37	4	10492234	10492234	+	Missense_Mutation	SNP	A	G	G			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:10492234A>G	uc003gmo.3	-	c.1144T>C	c.(1144-1146)TTT>CTT	p.F382L		NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN	mast cell immunoreceptor signal transducer	382	SH2.				immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			ovary(1)	1						GBM(87;402 1286 6949 13902 35851)								0.166667	5.142692	6.406377	2	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10492234	10492234	3685	4	A	G	G	G	26	2	CLNK	4	4
C4orf21	55345	broad.mit.edu	37	4	113506721	113506721	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:113506721C>A	uc003iau.2	-	c.4077G>T	c.(4075-4077)ATG>ATT	p.M1359I	C4orf21_uc003iav.2_Non-coding_Transcript	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN	prematurely terminated mRNA decay factor-like	181						integral to membrane	zinc ion binding				0		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)										0.151515	7.763599	11.594566	5	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113506721	113506721	2349	4	C	A	A	A	273	21	C4orf21	2	2
FAT4	79633	broad.mit.edu	37	4	126372425	126372425	+	Silent	SNP	A	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:126372425A>T	uc003ifj.3	+	c.10254A>T	c.(10252-10254)CCA>CCT	p.P3418P	FAT4_uc011cgp.1_Silent_p.P1716P|FAT4_uc003ifi.1_Silent_p.P896P	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3418	Cadherin 33.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(8)|pancreas(2)	10														0.140625	56.125163	88.041912	36	220	KEEP	---	---	---	---	capture		Silent	SNP	126372425	126372425	5928	4	A	T	T	T	54	5	FAT4	3	3
PCDH10	57575	broad.mit.edu	37	4	134071779	134071779	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:134071779A>T	uc003iha.2	+	c.484A>T	c.(484-486)ACC>TCC	p.T162S	PCDH10_uc003igz.2_Missense_Mutation_p.T162S	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	162	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1				LUSC - Lung squamous cell carcinoma(193;0.227)										0.124031	21.058251	38.846555	16	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134071779	134071779	11927	4	A	T	T	T	78	6	PCDH10	3	3
C4orf51	646603	broad.mit.edu	37	4	146601435	146601435	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:146601435G>C	uc003ikk.2	+	c.80G>C	c.(79-81)AGA>ACA	p.R27T		NM_001080531	NP_001074000	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	27											0														0.151515	59.960239	79.151604	25	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146601435	146601435	2374	4	G	C	C	C	429	33	C4orf51	3	3
LRBA	987	broad.mit.edu	37	4	151792559	151792559	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:151792559C>A	uc010ipj.2	-	c.2305G>T	c.(2305-2307)GCT>TCT	p.A769S	LRBA_uc003ilu.3_Missense_Mutation_p.A769S	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	769						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)	6	all_hematologic(180;0.151)													0.15311	56.452147	80.521269	32	177	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151792559	151792559	9304	4	C	A	A	A	364	28	LRBA	2	2
DDX60	55601	broad.mit.edu	37	4	169201524	169201524	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:169201524C>A	uc003irp.2	-	c.1940G>T	c.(1939-1941)TGC>TTC	p.C647F		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	647							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)										0.094972	8.75038	38.230882	17	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169201524	169201524	4549	4	C	A	A	A	325	25	DDX60	2	2
GLRA3	8001	broad.mit.edu	37	4	175636673	175636673	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:175636673C>A	uc003ity.1	-	c.540G>T	c.(538-540)ATG>ATT	p.M180I	GLRA3_uc003itz.1_Missense_Mutation_p.M180I	NM_006529	NP_006520	O75311	GLRA3_HUMAN	glycine receptor, alpha 3 isoform a	180	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(3)	3		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)									0.078125	-0.179868	11.468341	5	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175636673	175636673	6724	4	C	A	A	A	273	21	GLRA3	2	2
FAT1	2195	broad.mit.edu	37	4	187538323	187538323	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:187538323T>C	uc003izf.2	-	c.8911A>G	c.(8911-8913)ACT>GCT	p.T2971A		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2971	Extracellular (Potential).|Cadherin 27.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						Colon(197;1040 2055 4143 4984 49344)								0.202532	43.555151	50.047464	16	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	187538323	187538323	5925	4	T	C	C	C	780	60	FAT1	4	4
KLHL5	51088	broad.mit.edu	37	4	39116892	39116892	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:39116892G>T	uc003gtr.1	+	c.2153G>T	c.(2152-2154)GGA>GTA	p.G718V	KLHL5_uc003gtp.2_Missense_Mutation_p.G672V|KLHL5_uc003gtq.2_Missense_Mutation_p.G531V|KLHL5_uc003gts.2_Missense_Mutation_p.G718V|KLHL5_uc003gtt.2_Missense_Mutation_p.G657V	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	kelch-like 5 isoform 1	718	Kelch 6.					cytoplasm|cytoskeleton	actin binding			ovary(1)	1														0.068493	-4.480894	9.576999	5	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39116892	39116892	8706	4	G	T	T	T	533	41	KLHL5	2	2
SCFD2	152579	broad.mit.edu	37	4	54232058	54232058	+	Silent	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:54232058C>A	uc003gzu.2	-	c.51G>T	c.(49-51)GTG>GTT	p.V17V	SCFD2_uc010igm.2_Silent_p.V17V	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	17					protein transport|vesicle docking involved in exocytosis					ovary(2)|pancreas(1)	3			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)											0.183908	31.661019	39.80842	16	71	KEEP	---	---	---	---	capture		Silent	SNP	54232058	54232058	14371	4	C	A	A	A	314	25	SCFD2	2	2
LPHN3	23284	broad.mit.edu	37	4	62758472	62758472	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:62758472G>T	uc010ihh.2	+	c.1375G>T	c.(1375-1377)GTG>TTG	p.V459L	LPHN3_uc003hcq.3_Missense_Mutation_p.V459L|LPHN3_uc003hcs.1_Missense_Mutation_p.V288L	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	459	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.141414	22.878398	35.162658	14	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62758472	62758472	9290	4	G	T	T	T	468	36	LPHN3	2	2
CSN2	1447	broad.mit.edu	37	4	70823420	70823420	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:70823420G>T	uc003hes.3	-	c.247C>A	c.(247-249)CCT>ACT	p.P83T	CSN2_uc003het.3_Missense_Mutation_p.P82T	NM_001891	NP_001882	P05814	CASB_HUMAN	casein beta precursor	83					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity				0														0.105263	6.811722	24.483015	12	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70823420	70823420	4089	4	G	T	T	T	546	42	CSN2	2	2
SHROOM3	57619	broad.mit.edu	37	4	77680773	77680773	+	Silent	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:77680773G>A	uc011cbx.1	+	c.5274G>A	c.(5272-5274)GAG>GAA	p.E1758E	SHROOM3_uc003hkg.2_Silent_p.E1536E	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	1758	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			ovary(1)	1			Lung(101;0.0903)											0.113924	8.8127	20.431455	9	70	KEEP	---	---	---	---	capture		Silent	SNP	77680773	77680773	14790	4	G	A	A	A	438	34	SHROOM3	2	2
FRAS1	80144	broad.mit.edu	37	4	79207579	79207579	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:79207579A>T	uc003hlb.2	+	c.1420A>T	c.(1420-1422)ACG>TCG	p.T474S	FRAS1_uc003hkw.2_Missense_Mutation_p.T474S|FRAS1_uc003hky.1_Missense_Mutation_p.T178S|FRAS1_uc003hkz.2_Missense_Mutation_p.T178S|FRAS1_uc003hla.1_5'UTR	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	474	FU 2.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5														0.12426	27.364729	50.686561	21	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79207579	79207579	6288	4	A	T	T	T	78	6	FRAS1	3	3
C4orf36	132989	broad.mit.edu	37	4	87808958	87808958	+	Silent	SNP	C	G	G			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:87808958C>G	uc003hqe.3	-	c.309G>C	c.(307-309)CTG>CTC	p.L103L		NM_144645	NP_653246	Q96KX1	CD036_HUMAN	hypothetical protein LOC132989	103											0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)										0.183099	31.928534	38.626323	13	58	KEEP	---	---	---	---	capture		Silent	SNP	87808958	87808958	2361	4	C	G	G	G	366	29	C4orf36	3	3
TERT	7015	broad.mit.edu	37	5	1264701	1264701	+	Silent	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:1264701C>A	uc003jcb.1	-	c.2661G>T	c.(2659-2661)CTG>CTT	p.L887L	TERT_uc003jbz.1_Silent_p.L83L|TERT_uc003jca.1_Silent_p.L875L|TERT_uc003jcc.1_Intron|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron	NM_198253	NP_937983	O14746	TERT_HUMAN	telomerase reverse transcriptase isoform 1	887	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase	cytoplasm|nuclear telomere cap complex|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			lung(6)|central_nervous_system(2)|ovary(1)|skin(1)	10	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)							563				0.125	24.214136	45.102422	19	133	KEEP	---	---	---	---	capture		Silent	SNP	1264701	1264701	16291	5	C	A	A	A	262	21	TERT	2	2
SLC27A6	28965	broad.mit.edu	37	5	128321030	128321030	+	Splice_Site_SNP	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:128321030G>A	uc003kuy.2	+	c.685_splice	c.e3+1	p.G229_splice	SLC27A6_uc003kuz.2_Splice_Site_SNP_p.G229_splice	NM_014031	NP_054750			solute carrier family 27 (fatty acid						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)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)										0.212766	22.622025	26.207285	10	37	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	128321030	128321030	15027	5	G	A	A	A	572	44	SLC27A6	5	2
FAM13B	51306	broad.mit.edu	37	5	137346774	137346774	+	Silent	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:137346774G>A	uc003lbz.2	-	c.613C>T	c.(613-615)CTG>TTG	p.L205L	FAM13B_uc003lcb.2_Silent_p.L87L|FAM13B_uc003lca.2_Silent_p.L205L	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	hypothetical protein LOC51306 isoform 1	205	Rho-GAP.|Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0														0.113636	19.939592	39.367941	15	117	KEEP	---	---	---	---	capture		Silent	SNP	137346774	137346774	5650	5	G	A	A	A	425	33	FAM13B	2	2
BRD8	10902	broad.mit.edu	37	5	137488440	137488440	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:137488440C>G	uc003lcf.1	-	c.2587G>C	c.(2587-2589)GAG>CAG	p.E863Q	BRD8_uc003lcc.1_Intron	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8 isoform 2	863					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)											0.179775	79.192893	96.360812	32	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137488440	137488440	1537	5	C	G	G	G	403	31	BRD8	3	3
SLC23A1	9963	broad.mit.edu	37	5	138714949	138714949	+	Silent	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:138714949G>A	uc003leg.2	-	c.1032C>T	c.(1030-1032)TAC>TAT	p.Y344Y	SLC23A1_uc003leh.2_Silent_p.Y340Y	NM_152685	NP_689898	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (nucleobase	340					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)									0.184397	47.793129	60.954905	26	115	KEEP	---	---	---	---	capture		Silent	SNP	138714949	138714949	14959	5	G	A	A	A	516	40	SLC23A1	1	1
PCDHA6	56142	broad.mit.edu	37	5	140209948	140209948	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140209948G>T	uc003lho.2	+	c.2272G>T	c.(2272-2274)GTG>TTG	p.V758L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Missense_Mutation_p.V758L	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	758	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.166667	14.082709	19.150704	8	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140209948	140209948	11948	5	G	T	T	T	572	44	PCDHA6	2	2
PCDHB4	56131	broad.mit.edu	37	5	140503451	140503451	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140503451G>T	uc003lip.1	+	c.1871G>T	c.(1870-1872)CGC>CTC	p.R624L		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	624	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.172131	36.32636	48.708616	21	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140503451	140503451	11964	5	G	T	T	T	494	38	PCDHB4	1	1
PCDHB7	56129	broad.mit.edu	37	5	140553151	140553151	+	Silent	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140553151G>A	uc003lit.2	+	c.735G>A	c.(733-735)TCG>TCA	p.S245S		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	245	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.139535	28.274002	44.456617	18	111	KEEP	---	---	---	---	capture		Silent	SNP	140553151	140553151	11967	5	G	A	A	A	483	38	PCDHB7	1	1
PCDHB10	56126	broad.mit.edu	37	5	140573608	140573608	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140573608G>T	uc003lix.2	+	c.1483G>T	c.(1483-1485)GAC>TAC	p.D495Y		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	495	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.066667	-15.099085	22.713658	13	182	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140573608	140573608	11955	5	G	T	T	T	429	33	PCDHB10	2	2
PCDHB13	56123	broad.mit.edu	37	5	140594338	140594338	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140594338G>T	uc003lja.1	+	c.643G>T	c.(643-645)GCA>TCA	p.A215S		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	215	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.184932	54.229756	67.828941	27	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140594338	140594338	11958	5	G	T	T	T	442	34	PCDHB13	2	2
PCDHGC5	56097	broad.mit.edu	37	5	140869878	140869878	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140869878C>A	uc003lla.1	+	c.1071C>A	c.(1069-1071)AAC>AAA	p.N357K	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc003lky.1_Intron|PCDHGC5_uc011dbc.1_Missense_Mutation_p.N357K	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5 isoform 1	357	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.14433	24.137941	35.906096	14	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140869878	140869878	11991	5	C	A	A	A	233	18	PCDHGC5	2	2
JAKMIP2	9832	broad.mit.edu	37	5	147040887	147040887	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:147040887T>C	uc010jgo.1	-	c.251A>G	c.(250-252)GAG>GGG	p.E84G	JAKMIP2_uc003loq.1_Missense_Mutation_p.E84G|JAKMIP2_uc011dbx.1_Missense_Mutation_p.E42G|JAKMIP2_uc003lor.1_Missense_Mutation_p.E84G	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein	84	Potential.					Golgi apparatus				large_intestine(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.168269	168.738299	212.0549	70	346	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147040887	147040887	8245	5	T	C	C	C	702	54	JAKMIP2	4	4
FAT2	2196	broad.mit.edu	37	5	150923860	150923860	+	Silent	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:150923860G>T	uc003lue.3	-	c.6828C>A	c.(6826-6828)GTC>GTA	p.V2276V	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	2276	Extracellular (Potential).|Cadherin 20.				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)											0.178344	48.887126	64.202318	28	129	KEEP	---	---	---	---	capture		Silent	SNP	150923860	150923860	5926	5	G	T	T	T	418	33	FAT2	2	2
DOCK2	1794	broad.mit.edu	37	5	169509814	169509814	+	Silent	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:169509814G>A	uc003maf.2	+	c.5445G>A	c.(5443-5445)TCG>TCA	p.S1815S	DOCK2_uc011der.1_Non-coding_Transcript|DOCK2_uc010jjm.2_Silent_p.S1307S|DOCK2_uc003mah.2_Silent_p.S371S	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1815					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)											0.144928	17.3194	25.676439	10	59	KEEP	---	---	---	---	capture		Silent	SNP	169509814	169509814	4871	5	G	A	A	A	496	39	DOCK2	1	1
FOXI1	2299	broad.mit.edu	37	5	169535126	169535126	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:169535126G>C	uc003mai.3	+	c.648G>C	c.(646-648)AGG>AGC	p.R216S	FOXI1_uc003maj.3_Intron	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	forkhead box I1 isoform a	216	Fork-head.				epidermal cell fate specification|negative regulation of gene-specific transcription from RNA polymerase II promoter|otic placode formation|pattern specification process|positive regulation of gene-specific transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(3)|central_nervous_system(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											0.106383	18.378283	40.229971	15	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169535126	169535126	6254	5	G	C	C	C	529	41	FOXI1	3	3
NPM1	4869	broad.mit.edu	37	5	170819801	170819801	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:170819801G>A	uc011dex.1	+	c.440G>A	c.(439-441)GGT>GAT	p.G147D	NPM1_uc003mbh.2_Missense_Mutation_p.G147D|NPM1_uc003mbi.2_Missense_Mutation_p.G147D|NPM1_uc003mbj.2_Missense_Mutation_p.G147D	NM_002520	NP_002511	P06748	NPM_HUMAN	nucleophosmin 1 isoform 1	147	Required for interaction with SENP3.				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding		NPM1/ALK(632)	haematopoietic_and_lymphoid_tissue(3087)|skin(1)	3088	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)							244				0.064286	-18.092137	37.196474	18	262	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170819801	170819801	10992	5	G	A	A	A	572	44	NPM1	2	2
STK10	6793	broad.mit.edu	37	5	171479999	171479999	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:171479999C>A	uc003mbo.1	-	c.2700G>T	c.(2698-2700)AAG>AAT	p.K900N		NM_005990	NP_005981	O94804	STK10_HUMAN	serine/threonine kinase 10	900	Potential.				protein phosphorylation		ATP binding|protein serine/threonine kinase activity			ovary(3)|testis(1)|lung(1)|pancreas(1)	6	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)							570				0.189873	31.974893	39.083288	15	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	171479999	171479999	15806	5	C	A	A	A	311	24	STK10	2	2
SH3PXD2B	285590	broad.mit.edu	37	5	171766609	171766609	+	Silent	SNP	T	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:171766609T>A	uc003mbr.2	-	c.1500A>T	c.(1498-1500)TCA>TCT	p.S500S		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	500					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			ovary(3)	3	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)											0.178378	70.160287	88.178762	33	152	KEEP	---	---	---	---	capture		Silent	SNP	171766609	171766609	14749	5	T	A	A	A	704	55	SH3PXD2B	3	3
HK3	3101	broad.mit.edu	37	5	176308746	176308746	+	Silent	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:176308746C>T	uc003mfa.2	-	c.2340G>A	c.(2338-2340)CAG>CAA	p.Q780Q	HK3_uc003mez.2_Silent_p.Q336Q	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	780	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|breast(1)	5	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.164179	67.438246	88.9716	33	168	KEEP	---	---	---	---	capture		Silent	SNP	176308746	176308746	7483	5	C	T	T	T	363	28	HK3	2	2
FLT4	2324	broad.mit.edu	37	5	180048156	180048156	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:180048156G>T	uc003mlz.3	-	c.2117C>A	c.(2116-2118)GCG>GAG	p.A706E	FLT4_uc003mma.3_Missense_Mutation_p.A706E|FLT4_uc003mmb.1_Missense_Mutation_p.A239E|FLT4_uc011dgy.1_Missense_Mutation_p.A706E	NM_182925	NP_891555	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 1	706	Ig-like C2-type 7.|Extracellular (Potential).				positive regulation of cell proliferation|protein phosphorylation	integral to plasma membrane	ATP binding|protein binding|vascular endothelial growth factor receptor activity			lung(3)|ovary(1)|central_nervous_system(1)|kidney(1)|skin(1)	7	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	Colon(97;1075 1466 27033 27547 35871)				2638				0.125	9.583722	18.35622	8	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	180048156	180048156	6186	5	G	T	T	T	494	38	FLT4	1	1
PRDM9	56979	broad.mit.edu	37	5	23509208	23509208	+	Silent	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:23509208C>A	uc003jgo.2	+	c.66C>A	c.(64-66)CCC>CCA	p.P22P		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	22					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														0.25	40.666369	44.30424	16	48	KEEP	---	---	---	---	capture		Silent	SNP	23509208	23509208	12906	5	C	A	A	A	262	21	PRDM9	2	2
CDH10	1008	broad.mit.edu	37	5	24491831	24491831	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:24491831C>T	uc003jgr.1	-	c.1730G>A	c.(1729-1731)AGC>AAC	p.S577N	CDH10_uc011cnu.1_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	577	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)										0.076087	-0.643722	16.293371	7	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24491831	24491831	3225	5	C	T	T	T	364	28	CDH10	2	2
CDH9	1007	broad.mit.edu	37	5	26881265	26881265	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:26881265C>A	uc003jgs.1	-	c.2350G>T	c.(2350-2352)GAT>TAT	p.D784Y	CDH9_uc011cnv.1_Missense_Mutation_p.D377Y	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	784	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)	5						Melanoma(8;187 585 15745 40864 52829)								0.151261	58.134798	85.872582	36	202	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26881265	26881265	3246	5	C	A	A	A	377	29	CDH9	2	2
PDZD2	23037	broad.mit.edu	37	5	32089086	32089086	+	Silent	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:32089086C>T	uc003jhl.2	+	c.5532C>T	c.(5530-5532)GGC>GGT	p.G1844G	PDZD2_uc003jhm.2_Silent_p.G1844G	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	1844					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|large_intestine(1)	7														0.156069	40.483804	60.089376	27	146	KEEP	---	---	---	---	capture		Silent	SNP	32089086	32089086	12122	5	C	T	T	T	340	27	PDZD2	1	1
NPR3	4883	broad.mit.edu	37	5	32712141	32712141	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:32712141G>T	uc003jhv.2	+	c.259G>T	c.(259-261)GGG>TGG	p.G87W	NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Missense_Mutation_p.G87W	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	87	Extracellular (Potential).				diuresis|osteoclast proliferation|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)									0.186667	31.317496	38.206374	14	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32712141	32712141	11001	5	G	T	T	T	507	39	NPR3	1	1
SPEF2	79925	broad.mit.edu	37	5	35659145	35659145	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:35659145A>T	uc003jjo.2	+	c.1003A>T	c.(1003-1005)ATT>TTT	p.I335F	SPEF2_uc003jjn.1_Missense_Mutation_p.I335F|SPEF2_uc003jjq.3_Missense_Mutation_p.I335F	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	335	Potential.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			ovary(1)|central_nervous_system(1)	2	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)											0.125	5.98011	10.374138	4	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35659145	35659145	15547	5	A	T	T	T	156	12	SPEF2	3	3
ADAMTS16	170690	broad.mit.edu	37	5	5146362	5146362	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:5146362C>A	uc003jdl.2	+	c.295C>A	c.(295-297)CTT>ATT	p.L99I	ADAMTS16_uc003jdk.1_Missense_Mutation_p.L99I|ADAMTS16_uc003jdj.1_Missense_Mutation_p.L99I	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	99					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8														0.309859	116.743842	121.319646	44	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5146362	5146362	262	5	C	A	A	A	312	24	ADAMTS16	2	2
IL31RA	133396	broad.mit.edu	37	5	55212479	55212479	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:55212479T>A	uc003jql.2	+	c.1826T>A	c.(1825-1827)CTA>CAA	p.L609Q	IL31RA_uc003jqm.2_Missense_Mutation_p.L577Q|IL31RA_uc003jqn.2_Missense_Mutation_p.L609Q|IL31RA_uc003jqo.2_Missense_Mutation_p.L467Q	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN	gp130-like monocyte receptor	577	Cytoplasmic (Potential).				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			ovary(1)	1		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)												0.148387	40.026663	58.415582	23	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55212479	55212479	7992	5	T	A	A	A	689	53	IL31RA	3	3
SPZ1	84654	broad.mit.edu	37	5	79617271	79617271	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:79617271C>A	uc003kgn.2	+	c.1237C>A	c.(1237-1239)CAT>AAT	p.H413N		NM_032567	NP_115956	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(1)	1		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)										0.150685	37.444299	54.525192	22	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79617271	79617271	15641	5	C	A	A	A	377	29	SPZ1	2	2
ZBTB24	9841	broad.mit.edu	37	6	109798052	109798052	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:109798052G>C	uc003ptl.1	-	c.1034C>G	c.(1033-1035)ACA>AGA	p.T345R	ZBTB24_uc011ear.1_Non-coding_Transcript|ZBTB24_uc010kds.1_Intron|ZBTB24_uc010kdt.1_Non-coding_Transcript	NM_014797	NP_055612	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24 isoform	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)										0.140625	18.22984	26.209027	9	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109798052	109798052	18117	6	G	C	C	C	624	48	ZBTB24	3	3
SLC22A16	85413	broad.mit.edu	37	6	110763908	110763908	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:110763908C>A	uc003puf.2	-	c.722G>T	c.(721-723)TGG>TTG	p.W241L	SLC22A16_uc003pue.2_Missense_Mutation_p.W222L	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	solute carrier family 22, member 16	241					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane|plasma membrane	carnitine transporter activity			ovary(1)	1		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)										0.206186	45.643093	53.408431	20	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110763908	110763908	14943	6	C	A	A	A	273	21	SLC22A16	2	2
AKAP12	9590	broad.mit.edu	37	6	151669913	151669913	+	Silent	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:151669913G>A	uc011eep.1	+	c.387G>A	c.(385-387)GCG>GCA	p.A129A	AKAP12_uc003qoe.2_Silent_p.A129A|AKAP12_uc003qof.2_Silent_p.A31A|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Silent_p.A24A	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	129					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			large_intestine(2)|ovary(2)|pancreas(1)|lung(1)|skin(1)	7		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		Melanoma(141;1616 1805 10049 24534 51979)				196				0.086022	1.129893	17.282006	8	85	KEEP	---	---	---	---	capture		Silent	SNP	151669913	151669913	451	6	G	A	A	A	496	39	AKAP12	1	1
TMEM181	57583	broad.mit.edu	37	6	159028287	159028287	+	Silent	SNP	G	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:159028287G>C	uc003qrm.3	+	c.996G>C	c.(994-996)GCG>GCC	p.A332A	TMEM181_uc010kjr.1_Silent_p.A163A	NM_020823	NP_065874	Q9P2C4	TM181_HUMAN	G protein-coupled receptor 178	332	Helical; (Potential).				pathogenesis	integral to membrane	toxin binding			ovary(2)	2		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)										0.14433	28.928847	40.702783	14	83	KEEP	---	---	---	---	capture		Silent	SNP	159028287	159028287	16634	6	G	C	C	C	483	38	TMEM181	3	3
SLC22A3	6581	broad.mit.edu	37	6	160864687	160864687	+	Missense_Mutation	SNP	G	T	T	rs9365165		TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:160864687G>T	uc003qti.2	+	c.1423G>T	c.(1423-1425)GGT>TGT	p.G475C	SLC22A3_uc011efx.1_Non-coding_Transcript	NM_021977	NP_068812	O75751	S22A3_HUMAN	solute carrier family 22 member 3	475	Helical; (Potential).					integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)						170				0.086957	2.224791	18.118602	8	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160864687	160864687	14952	6	G	T	T	T	455	35	SLC22A3	2	2
PDCD2	5134	broad.mit.edu	37	6	170887973	170887973	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:170887973C>G	uc003qxw.2	-	c.848G>C	c.(847-849)TGT>TCT	p.C283S	PDCD2_uc003qxv.2_Missense_Mutation_p.C250S|PDCD2_uc003qxx.1_Missense_Mutation_p.C283S	NM_002598	NP_002589	Q16342	PDCD2_HUMAN	programmed cell death 2 isoform 1	283					apoptosis	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding				0		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)		Colon(60;1476 1726 39478)								0.053097	-6.350778	17.478966	6	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170887973	170887973	12040	6	C	G	G	G	221	17	PDCD2	3	3
HIST1H1B	3009	broad.mit.edu	37	6	27835222	27835222	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:27835222G>C	uc003njx.2	-	c.86C>G	c.(85-87)GCC>GGC	p.A29G		NM_005322	NP_005313	P16401	H15_HUMAN	histone cluster 1, H1b	29					nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(2)	2														0.064516	-4.783609	19.644306	8	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27835222	27835222	7408	6	G	C	C	C	546	42	HIST1H1B	3	3
BAT2	7916	broad.mit.edu	37	6	31597577	31597577	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31597577G>T	uc003nvb.3	+	c.2209G>T	c.(2209-2211)GGT>TGT	p.G737C	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.G737C	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	737	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0														0.141593	23.842196	37.829824	16	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31597577	31597577	1340	6	G	T	T	T	559	43	BAT2	2	2
BAT3	7917	broad.mit.edu	37	6	31612763	31612763	+	Silent	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31612763C>T	uc003nvg.3	-	c.1347G>A	c.(1345-1347)CAG>CAA	p.Q449Q	BAT3_uc003nvf.3_Silent_p.Q443Q|BAT3_uc003nvh.3_Silent_p.Q443Q|BAT3_uc003nvi.3_Silent_p.Q443Q|BAT3_uc011dnw.1_Silent_p.Q443Q|BAT3_uc011dnx.1_Silent_p.Q443Q|BAT3_uc003nvj.1_Silent_p.Q443Q	NM_004639	NP_004630	P46379	BAG6_HUMAN	HLA-B associated transcript-3 isoform a	449	Pro-rich.|4 X 29 AA approximate repeats.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding				0										141				0.055556	-33.731735	44.828672	21	357	KEEP	---	---	---	---	capture		Silent	SNP	31612763	31612763	1343	6	C	T	T	T	415	32	BAT3	2	2
GRM4	2914	broad.mit.edu	37	6	33995926	33995926	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:33995926G>T	uc003oir.3	-	c.2660C>A	c.(2659-2661)TCT>TAT	p.S887Y	GRM4_uc011dsn.1_Missense_Mutation_p.S840Y|GRM4_uc010jvh.2_Missense_Mutation_p.S887Y|GRM4_uc010jvi.2_Missense_Mutation_p.S579Y|GRM4_uc003oio.2_Missense_Mutation_p.S579Y|GRM4_uc003oip.2_Non-coding_Transcript|GRM4_uc011dsl.1_Missense_Mutation_p.S747Y|GRM4_uc003oiq.2_Missense_Mutation_p.S754Y|GRM4_uc011dsm.1_Missense_Mutation_p.S718Y	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	887	Cytoplasmic (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			ovary(1)	1					L-Glutamic Acid(DB00142)									0.163934	17.109014	23.655565	10	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33995926	33995926	7078	6	G	T	T	T	429	33	GRM4	2	2
DUSP22	56940	broad.mit.edu	37	6	348228	348228	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:348228G>A	uc003msx.2	+	c.389G>A	c.(388-390)GGC>GAC	p.G130D	DUSP22_uc011dhn.1_Missense_Mutation_p.G130D|DUSP22_uc003msy.1_Missense_Mutation_p.G87D	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	130	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)										0.048387	-31.838118	21.904429	12	236	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	348228	348228	5006	6	G	A	A	A	546	42	DUSP22	2	2
BRPF3	27154	broad.mit.edu	37	6	36198206	36198206	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:36198206G>T	uc003olv.3	+	c.3438G>T	c.(3436-3438)CAG>CAT	p.Q1146H	BRPF3_uc010jwb.2_Missense_Mutation_p.Q876H|BRPF3_uc011dtj.1_Non-coding_Transcript|BRPF3_uc010jwc.2_Non-coding_Transcript|BRPF3_uc011dtk.1_Missense_Mutation_p.Q812H|BRPF3_uc010jwd.2_Missense_Mutation_p.Q48H	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	1146	PWWP.				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			ovary(1)	1														0.141026	17.669088	27.370672	11	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36198206	36198206	1552	6	G	T	T	T	464	36	BRPF3	2	2
DNAH8	1769	broad.mit.edu	37	6	38843557	38843557	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:38843557C>A	uc003ooe.1	+	c.7160C>A	c.(7159-7161)CCT>CAT	p.P2387H		NM_001371	NP_001362	Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy polypeptide 8	2387					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(5)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	17										2979				0.205479	32.179656	38.056439	15	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38843557	38843557	4790	6	C	A	A	A	312	24	DNAH8	2	2
CUL7	9820	broad.mit.edu	37	6	43020118	43020118	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:43020118G>C	uc011dvb.1	-	c.565C>G	c.(565-567)CTA>GTA	p.L189V	CUL7_uc003otq.2_Missense_Mutation_p.L137V|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	137					interspecies interaction between organisms|regulation of mitotic metaphase/anaphase transition|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)											0.144578	25.359893	35.436433	12	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43020118	43020118	4220	6	G	C	C	C	425	33	CUL7	3	3
GPR116	221395	broad.mit.edu	37	6	46826344	46826344	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:46826344C>A	uc003oyo.3	-	c.3296G>T	c.(3295-3297)AGC>ATC	p.S1099I	GPR116_uc011dwj.1_Missense_Mutation_p.S654I|GPR116_uc011dwk.1_Missense_Mutation_p.S528I|GPR116_uc003oyp.3_Missense_Mutation_p.S957I|GPR116_uc003oyq.3_Missense_Mutation_p.S1099I|GPR116_uc010jzi.1_Missense_Mutation_p.S771I	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	1099	Helical; Name=3; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)	1			Lung(136;0.192)			NSCLC(59;410 1274 8751 36715 50546)								0.108696	4.43943	11.420751	5	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46826344	46826344	6907	6	C	A	A	A	364	28	GPR116	2	2
TNFRSF21	27242	broad.mit.edu	37	6	47251938	47251938	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:47251938G>C	uc003oyv.2	-	c.979C>G	c.(979-981)CCC>GCC	p.P327A		NM_014452	NP_055267	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily,	327	Extracellular (Potential).				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity				0			Lung(136;0.189)											0.111524	39.617149	79.701327	30	239	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47251938	47251938	16836	6	G	C	C	C	546	42	TNFRSF21	3	3
GCM1	8521	broad.mit.edu	37	6	52993667	52993667	+	Silent	SNP	A	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:52993667A>T	uc003pbp.2	-	c.648T>A	c.(646-648)GGT>GGA	p.G216G		NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	glial cells missing homolog a	216					regulation of transcription, DNA-dependent	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)	1	Lung NSC(77;0.0755)													0.156069	49.249939	68.757725	27	146	KEEP	---	---	---	---	capture		Silent	SNP	52993667	52993667	6563	6	A	T	T	T	171	14	GCM1	3	3
BAI3	577	broad.mit.edu	37	6	70034795	70034795	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:70034795A>T	uc003pev.3	+	c.2846A>T	c.(2845-2847)CAC>CTC	p.H949L	BAI3_uc010kak.2_Missense_Mutation_p.H949L|BAI3_uc011dxx.1_Missense_Mutation_p.H155L|BAI3_uc003pex.1_Missense_Mutation_p.H79L	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	949	Helical; Name=3; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(7)|skin(6)|pancreas(4)|central_nervous_system(3)|lung(3)|urinary_tract(1)	24		all_lung(197;0.212)								992				0.176471	39.792297	49.849574	18	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70034795	70034795	1321	6	A	T	T	T	78	6	BAI3	3	3
FUT9	10690	broad.mit.edu	37	6	96651063	96651063	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:96651063C>A	uc003pop.3	+	c.32C>A	c.(31-33)CCA>CAA	p.P11Q		NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3)	11	Cytoplasmic (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			ovary(1)	1		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		Melanoma(98;1369 1476 6592 22940 26587)								0.057325	-14.694784	17.551042	9	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96651063	96651063	6362	6	C	A	A	A	273	21	FUT9	2	2
SLC12A9	56996	broad.mit.edu	37	7	100454719	100454719	+	Silent	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100454719C>T	uc003uwp.2	+	c.678C>T	c.(676-678)GGC>GGT	p.G226G	SLC12A9_uc003uwo.1_Silent_p.G137G|SLC12A9_uc003uwq.2_Silent_p.G137G|SLC12A9_uc011kki.1_Intron|SLC12A9_uc003uwr.2_5'UTR|SLC12A9_uc003uws.2_5'UTR|SLC12A9_uc003uwt.2_5'UTR|SLC12A9_uc003uwv.2_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	solute carrier family 12 (potassium/chloride	226	Extracellular (Potential).					integral to membrane|plasma membrane	cation:chloride symporter activity				0	Lung NSC(181;0.041)|all_lung(186;0.0581)													0.044872	-22.673972	11.864345	7	149	KEEP	---	---	---	---	capture		Silent	SNP	100454719	100454719	14885	7	C	T	T	T	327	26	SLC12A9	2	2
MUC17	140453	broad.mit.edu	37	7	100680394	100680395	+	Missense_Mutation	DNP	CA	AC	AC			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100680394_100680395CA>AC	uc003uxp.1	+	c.5697_5698CA>AC	c.(5695-5700)ACCACT>ACACCT	p.T1900P	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1900	Extracellular (Potential).|30.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.118812	62.237008	134.321852	60	445	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	100680394	100680395	10368	7	CA	AC	AC	AC	262	21	MUC17	2	2
MUC17	140453	broad.mit.edu	37	7	100683336	100683336	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100683336C>A	uc003uxp.1	+	c.8639C>A	c.(8638-8640)CCG>CAG	p.P2880Q	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2880	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|46.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.271028	220.450575	235.657932	87	234	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100683336	100683336	10368	7	C	A	A	A	299	23	MUC17	1	1
MUC17	140453	broad.mit.edu	37	7	100683920	100683920	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100683920A>T	uc003uxp.1	+	c.9223A>T	c.(9223-9225)AGT>TGT	p.S3075C	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3075	Extracellular (Potential).|Ser-rich.|50.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.296296	235.870843	246.904255	88	209	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100683920	100683920	10368	7	A	T	T	T	91	7	MUC17	3	3
MUC17	140453	broad.mit.edu	37	7	100685523	100685523	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100685523C>A	uc003uxp.1	+	c.10826C>A	c.(10825-10827)ACT>AAT	p.T3609N	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3609	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|58.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.108491	22.268777	54.47519	23	189	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100685523	100685523	10368	7	C	A	A	A	260	20	MUC17	2	2
RABL5	64792	broad.mit.edu	37	7	100958530	100958530	+	Nonsense_Mutation	SNP	G	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100958530G>C	uc003uyl.2	-	c.443C>G	c.(442-444)TCA>TGA	p.S148*	RABL5_uc011kkk.1_Nonsense_Mutation_p.S71*|RABL5_uc011kkl.1_Nonsense_Mutation_p.S71*|RABL5_uc003uym.2_Nonsense_Mutation_p.S118*|RABL5_uc010lhw.2_Non-coding_Transcript	NM_022777	NP_073614	Q9H7X7	RABL5_HUMAN	RAB, member RAS oncogene family-like 5 isoform	148							GTP binding				0	Lung NSC(181;0.215)											OREG0018221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.094488	12.79849	33.778153	12	115	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	100958530	100958530	13432	7	G	C	C	C	585	45	RABL5	5	3
PIK3CG	5294	broad.mit.edu	37	7	106509707	106509707	+	Silent	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:106509707C>T	uc003vdv.3	+	c.1701C>T	c.(1699-1701)CTC>CTT	p.L567L	PIK3CG_uc003vdu.2_Silent_p.L567L|PIK3CG_uc003vdw.2_Silent_p.L567L	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	567					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(8)|lung(7)|pancreas(3)|ovary(2)|skin(1)	21										292				0.222222	49.598073	57.323236	24	84	KEEP	---	---	---	---	capture		Silent	SNP	106509707	106509707	12340	7	C	T	T	T	366	29	PIK3CG	2	2
MET	4233	broad.mit.edu	37	7	116340082	116340082	+	Missense_Mutation	SNP	A	G	G			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:116340082A>G	uc010lkh.2	+	c.944A>G	c.(943-945)AAT>AGT	p.N315S	MET_uc003vij.2_Missense_Mutation_p.N315S|MET_uc011knc.1_Missense_Mutation_p.N315S|MET_uc011knd.1_Missense_Mutation_p.N315S|MET_uc011kne.1_Missense_Mutation_p.N315S|MET_uc011knf.1_Missense_Mutation_p.N315S|MET_uc011kng.1_Missense_Mutation_p.N315S|MET_uc011knh.1_Missense_Mutation_p.N315S|MET_uc011kni.1_Missense_Mutation_p.N315S|MET_uc003vii.1_Missense_Mutation_p.N334S|MET_uc010lkg.2_Missense_Mutation_p.N315S|MET_uc011kmz.1_Missense_Mutation_p.N315S|MET_uc011kna.1_Missense_Mutation_p.N315S|MET_uc011knb.1_Missense_Mutation_p.N315S	NM_001127500	NP_001120972	P08581	MET_HUMAN	met proto-oncogene isoform a precursor	315	Extracellular (Potential).|Sema.				axon guidance|cell proliferation|protein phosphorylation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|NS(3)|large_intestine(2)|testis(1)|breast(1)	148	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)							299				0.135802	19.370612	29.780235	11	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116340082	116340082	9874	7	A	G	G	G	52	4	MET	4	4
ASB15	142685	broad.mit.edu	37	7	123254559	123254559	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:123254559G>T	uc003vku.1	+	c.3G>T	c.(1-3)ATG>ATT	p.M1I	ASB15_uc003vkv.1_Missense_Mutation_p.M1I|ASB15_uc003vkw.1_Missense_Mutation_p.M1I	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box-containing 15	1					intracellular signal transduction					lung(1)	1														0.171548	80.114136	104.497692	41	198	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123254559	123254559	1037	7	G	T	T	T	611	47	ASB15	2	2
PLXNA4	91584	broad.mit.edu	37	7	131872244	131872244	+	Silent	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:131872244G>T	uc003vra.3	-	c.2979C>A	c.(2977-2979)CCC>CCA	p.P993P		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	993	IPT/TIG 2.|Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1														0.130233	114.50643	200.294955	84	561	KEEP	---	---	---	---	capture		Silent	SNP	131872244	131872244	12548	7	G	T	T	T	444	35	PLXNA4	2	2
CNTNAP2	26047	broad.mit.edu	37	7	146818215	146818215	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:146818215G>T	uc003weu.1	+	c.899G>T	c.(898-900)CGT>CTT	p.R300L		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	300	Laminin G-like 1.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.R300H(1)		ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)											0.171429	27.882014	35.004662	12	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146818215	146818215	3785	7	G	T	T	T	520	40	CNTNAP2	1	1
MLL3	58508	broad.mit.edu	37	7	151874497	151874497	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:151874497G>C	uc003wla.2	-	c.8041C>G	c.(8041-8043)CCT>GCT	p.P2681A	MLL3_uc003wkz.2_Missense_Mutation_p.P1742A|MLL3_uc003wky.2_Missense_Mutation_p.P190A	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2681					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			pancreas(12)|ovary(7)|large_intestine(6)|central_nervous_system(4)|urinary_tract(1)|skin(1)	31	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		Colon(68;14 1149 1884 27689 34759)				1780				0.10084	16.441713	35.335597	12	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151874497	151874497	10012	7	G	C	C	C	546	42	MLL3	3	3
MLL3	58508	broad.mit.edu	37	7	151960177	151960177	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:151960177G>A	uc003wla.2	-	c.1223C>T	c.(1222-1224)ACG>ATG	p.T408M		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	408	PHD-type 2.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			pancreas(12)|ovary(7)|large_intestine(6)|central_nervous_system(4)|urinary_tract(1)|skin(1)	31	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		Colon(68;14 1149 1884 27689 34759)				1780				0.174242	42.648543	55.866665	23	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151960177	151960177	10012	7	G	A	A	A	520	40	MLL3	1	1
HOXA3	3200	broad.mit.edu	37	7	27149789	27149789	+	Silent	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:27149789G>T	uc011jzl.1	-	c.471C>A	c.(469-471)CCC>CCA	p.P157P	HOXA3_uc011jzk.1_De_novo_Start_OutOfFrame|HOXA3_uc003syk.2_Silent_p.P157P	NM_030661	NP_109377	O43365	HXA3_HUMAN	homeobox A3 isoform a	157	Antp-type hexapeptide.				angiogenesis|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			breast(2)	2						Esophageal Squamous(136;1368 1743 5685 7935 50360)								0.11165	22.210866	52.887128	23	183	KEEP	---	---	---	---	capture		Silent	SNP	27149789	27149789	7585	7	G	T	T	T	444	35	HOXA3	2	2
GLI3	2737	broad.mit.edu	37	7	42088288	42088288	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:42088288C>A	uc011kbh.1	-	c.481G>T	c.(481-483)GCC>TCC	p.A161S	GLI3_uc011kbg.1_Missense_Mutation_p.A102S	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	161					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity|zinc ion binding			large_intestine(2)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)|pancreas(1)	8										806				0.196078	24.623203	29.011122	10	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42088288	42088288	6707	7	C	A	A	A	351	27	GLI3	1	1
ADCY1	107	broad.mit.edu	37	7	45744158	45744158	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:45744158G>T	uc003tne.3	+	c.2760G>T	c.(2758-2760)AAG>AAT	p.K920N		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	920	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	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|central_nervous_system(1)	4					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)									0.139896	36.979778	61.170994	27	166	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45744158	45744158	293	7	G	T	T	T	425	33	ADCY1	2	2
IGFBP3	3486	broad.mit.edu	37	7	45957004	45957004	+	Silent	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:45957004G>T	uc003tnr.2	-	c.456C>A	c.(454-456)GCC>GCA	p.A152A	IGFBP3_uc003tnq.2_Non-coding_Transcript|IGFBP3_uc003tns.2_Silent_p.A146A|IGFBP3_uc003tnt.2_Silent_p.A49A	NM_001013398	NP_001013416	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	146	Ser/Thr-rich.				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	insulin-like growth factor binding protein complex|nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity			large_intestine(2)	2					Mecasermin(DB01277)							OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.144	28.706317	43.928559	18	107	KEEP	---	---	---	---	capture		Silent	SNP	45957004	45957004	7881	7	G	T	T	T	496	39	IGFBP3	1	1
PKD1L1	168507	broad.mit.edu	37	7	47897406	47897406	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:47897406T>A	uc003tny.1	-	c.4387A>T	c.(4387-4389)AGC>TGC	p.S1463C		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1463	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(7)|breast(1)	8														0.207317	39.431159	45.938322	17	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47897406	47897406	12388	7	T	A	A	A	689	53	PKD1L1	3	3
FKBP6	8468	broad.mit.edu	37	7	72756806	72756806	+	Splice_Site_SNP	SNP	G	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:72756806G>C	uc003tya.2	+	c.894_splice	c.e8-1	p.S298_splice	FKBP6_uc003twz.2_Splice_Site_SNP_p.S268_splice|FKBP6_uc011kew.1_Splice_Site_SNP_p.S293_splice	NM_003602	NP_003593			FK506 binding protein 6 isoform a						protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)										OREG0018106	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.042345	-36.602101	32.433381	13	294	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	72756806	72756806	6150	7	G	C	C	C	442	34	FKBP6	5	3
HIP1	3092	broad.mit.edu	37	7	75189162	75189162	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:75189162C>T	uc003uds.1	-	c.1249G>A	c.(1249-1251)GCC>ACC	p.A417T	HIP1_uc011kfz.1_Missense_Mutation_p.A294T	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	417	Potential.|pDED.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			pancreas(2)|ovary(1)|central_nervous_system(1)	4										1179				0.214286	6.516466	7.572601	3	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75189162	75189162	7399	7	C	T	T	T	338	26	HIP1	2	2
MIOS	54468	broad.mit.edu	37	7	7613232	7613232	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:7613232G>C	uc003srf.2	+	c.1126G>C	c.(1126-1128)GAA>CAA	p.E376Q	MIOS_uc010ktp.1_Missense_Mutation_p.E376Q	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog	376											0														0.145695	48.744866	66.974586	22	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7613232	7613232	9979	7	G	C	C	C	585	45	MIOS	3	3
CCDC146	57639	broad.mit.edu	37	7	76891577	76891577	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:76891577G>A	uc003uga.2	+	c.1126G>A	c.(1126-1128)GAT>AAT	p.D376N	CCDC146_uc010ldp.2_Missense_Mutation_p.D122N	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	376										ovary(1)|central_nervous_system(1)	2		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)												0.158537	48.241904	66.470489	26	138	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76891577	76891577	2900	7	G	A	A	A	533	41	CCDC146	2	2
HGF	3082	broad.mit.edu	37	7	81335060	81335060	+	Silent	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:81335060G>T	uc003uhl.2	-	c.1767C>A	c.(1765-1767)GTC>GTA	p.V589V	HGF_uc003uhm.2_Silent_p.V584V	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	589	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4									p.V589V(COLO741-Tumor)	800				0.097561	3.934655	17.239004	8	74	KEEP	---	---	---	---	capture		Silent	SNP	81335060	81335060	7369	7	G	T	T	T	522	41	HGF	2	2
ABCB1	5243	broad.mit.edu	37	7	87144598	87144598	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:87144598G>T	uc003uiz.1	-	c.3231C>A	c.(3229-3231)AGC>AGA	p.S1077R	ABCB1_uc011khc.1_Missense_Mutation_p.S1013R	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	1077	Cytoplasmic (Potential).|ABC transporter 2.|ATP 2 (By similarity).					apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)									0.104167	3.082182	10.531274	5	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87144598	87144598	41	7	G	T	T	T	594	46	ABCB1	2	2
ABCB1	5243	broad.mit.edu	37	7	87179275	87179275	+	Silent	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:87179275G>T	uc003uiz.1	-	c.1446C>A	c.(1444-1446)ACC>ACA	p.T482T	ABCB1_uc011khc.1_Silent_p.T418T	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	482	ABC transporter 1.|Cytoplasmic (Potential).					apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)									0.159011	81.686242	113.049166	45	238	KEEP	---	---	---	---	capture		Silent	SNP	87179275	87179275	41	7	G	T	T	T	600	47	ABCB1	2	2
PON3	5446	broad.mit.edu	37	7	95001637	95001637	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:95001637G>A	uc003unt.2	-	c.215C>T	c.(214-216)CCA>CTA	p.P72L	PON1_uc011kih.1_Intron|PON3_uc011kii.1_Missense_Mutation_p.P120L	NM_000940	NP_000931	Q15166	PON3_HUMAN	paraoxonase 3	72					aromatic compound catabolic process|carboxylic acid catabolic process|response to external stimulus	extracellular space	aryldialkylphosphatase activity|arylesterase activity|metal ion binding|protein homodimerization activity			ovary(1)	1	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)											0.102041	8.183276	23.658726	10	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95001637	95001637	12679	7	G	A	A	A	611	47	PON3	2	2
ODF1	4956	broad.mit.edu	37	8	103573108	103573108	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:103573108T>C	uc003ykt.2	+	c.749T>C	c.(748-750)TTG>TCG	p.L250S		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	250					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			ovary(2)	2	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)											0.069388	-10.125245	36.825999	17	228	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103573108	103573108	11231	8	T	C	C	C	819	63	ODF1	4	4
DPYS	1807	broad.mit.edu	37	8	105436574	105436574	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:105436574C>A	uc003yly.3	-	c.1136G>T	c.(1135-1137)AGC>ATC	p.S379I		NM_001385	NP_001376	Q14117	DPYS_HUMAN	dihydropyrimidinase	379					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)											0.057377	-13.667906	11.426144	7	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105436574	105436574	4930	8	C	A	A	A	364	28	DPYS	2	2
LRRC6	23639	broad.mit.edu	37	8	133673705	133673706	+	Splice_Site_DNP	DNP	CC	AT	AT			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:133673705_133673706CC>AT	uc003ytk.2	-	c.178_splice	c.e2+1	p.E60_splice	LRRC6_uc003ytl.2_Splice_Site_DNP	NM_012472	NP_036604			leucine rich repeat containing 6							cytoplasm				ovary(1)|kidney(1)	2	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)											0.170732	16.197992	20.402431	7	34	KEEP	---	---	---	---	capture		Splice_Site_DNP	DNP	133673705	133673706	9391	8	CC	AT	AT	AT	234	18	LRRC6	5	2
TG	7038	broad.mit.edu	37	8	133906105	133906105	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:133906105C>T	uc003ytw.2	+	c.2932C>T	c.(2932-2934)CCC>TCC	p.P978S		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	978	Thyroglobulin type-1 8.				hormone biosynthetic process|regulation of synaptic transmission|signal transduction		carboxylesterase activity|hormone activity			ovary(8)|breast(4)|pancreas(1)	13	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)						1778				0.042781	-27.549645	14.395199	8	179	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133906105	133906105	16341	8	C	T	T	T	338	26	TG	2	2
FAM135B	51059	broad.mit.edu	37	8	139268931	139268931	+	Splice_Site_SNP	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139268931C>A	uc003yuy.2	-	c.368_splice	c.e5+1	p.Q123_splice	FAM135B_uc003yux.2_Splice_Site_SNP_p.Q24_splice|FAM135B_uc003yuz.2_Splice_Site_SNP	NM_015912	NP_056996			hypothetical protein LOC51059											ovary(7)	7	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)											0.149254	18.301644	26.212332	10	57	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	139268931	139268931	5646	8	C	A	A	A	260	20	FAM135B	5	2
LY6D	8581	broad.mit.edu	37	8	143867039	143867039	+	Silent	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:143867039C>T	uc003yxf.1	-	c.117G>A	c.(115-117)CCG>CCA	p.P39P		NM_003695	NP_003686	Q14210	LY6D_HUMAN	lymphocyte antigen 6 complex, locus D precursor	39	UPAR/Ly6.				cell adhesion	anchored to membrane|membrane fraction|plasma membrane	protein binding				0	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)													0.253968	78.845657	85.767268	32	94	KEEP	---	---	---	---	capture		Silent	SNP	143867039	143867039	9467	8	C	T	T	T	288	23	LY6D	1	1
CSMD1	64478	broad.mit.edu	37	8	2855596	2855596	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:2855596C>T	uc011kwk.1	-	c.8317G>A	c.(8317-8319)GGC>AGC	p.G2773S	CSMD1_uc011kwj.1_Missense_Mutation_p.G2102S|CSMD1_uc010lrg.2_Missense_Mutation_p.G783S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2773	Extracellular (Potential).|Sushi 19.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)										0.204082	47.84274	55.80883	20	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2855596	2855596	4085	8	C	T	T	T	286	22	CSMD1	2	2
CLVS1	157807	broad.mit.edu	37	8	62212572	62212572	+	Silent	SNP	C	G	G			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:62212572C>G	uc003xuh.2	+	c.186C>G	c.(184-186)ACC>ACG	p.T62T	CLVS1_uc003xug.2_Silent_p.T62T|CLVS1_uc003xui.2_Intron|CLVS1_uc010lyp.2_Silent_p.T62T	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	retinaldehyde binding protein 1-like 1	62					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			ovary(1)|skin(1)	2														0.175439	24.157345	29.785556	10	47	KEEP	---	---	---	---	capture		Silent	SNP	62212572	62212572	3709	8	C	G	G	G	262	21	CLVS1	3	3
ZFHX4	79776	broad.mit.edu	37	8	77618316	77618316	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77618316G>T	uc003yav.2	+	c.1993G>T	c.(1993-1995)GAG>TAG	p.E665*	ZFHX4_uc003yat.1_Nonsense_Mutation_p.E665*|ZFHX4_uc003yau.1_Nonsense_Mutation_p.E665*|ZFHX4_uc003yaw.1_Nonsense_Mutation_p.E665*	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	665	C2H2-type 2.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)											0.133333	12.813164	22.589201	10	65	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	77618316	77618316	18223	8	G	T	T	T	533	41	ZFHX4	5	2
ZFHX4	79776	broad.mit.edu	37	8	77690535	77690535	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77690535T>A	uc003yav.2	+	c.3107T>A	c.(3106-3108)CTG>CAG	p.L1036Q	ZFHX4_uc003yau.1_Missense_Mutation_p.L1062Q|ZFHX4_uc003yaw.1_Missense_Mutation_p.L1036Q	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1036	C2H2-type 7.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)											0.140449	42.155296	64.372653	25	153	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77690535	77690535	18223	8	T	A	A	A	715	55	ZFHX4	3	3
ZFHX4	79776	broad.mit.edu	37	8	77765635	77765635	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77765635C>A	uc003yav.2	+	c.6343C>A	c.(6343-6345)CAG>AAG	p.Q2115K	ZFHX4_uc003yau.1_Missense_Mutation_p.Q2160K|ZFHX4_uc003yaw.1_Missense_Mutation_p.Q2115K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2115	Homeobox 1.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)											0.073171	-3.025817	20.018351	9	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77765635	77765635	18223	8	C	A	A	A	273	21	ZFHX4	2	2
RUNX1T1	862	broad.mit.edu	37	8	92972729	92972729	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:92972729C>A	uc011lgi.1	-	c.1589G>T	c.(1588-1590)GGC>GTC	p.G530V	RUNX1T1_uc003yfc.1_Missense_Mutation_p.G492V|RUNX1T1_uc003yfd.2_Missense_Mutation_p.G519V|RUNX1T1_uc003yfe.1_Missense_Mutation_p.G482V|RUNX1T1_uc010mao.2_Missense_Mutation_p.G492V|RUNX1T1_uc010man.1_Missense_Mutation_p.G144V|RUNX1T1_uc003yfb.1_Missense_Mutation_p.G482V	NM_175636	NP_783554	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	519	MYND-type.				generation of precursor metabolites and energy|regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|central_nervous_system(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(11;0.0141)							213				0.075472	-1.844066	7.955388	4	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92972729	92972729	14227	8	C	A	A	A	338	26	RUNX1T1	2	2
MTERFD1	51001	broad.mit.edu	37	8	97256256	97256256	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:97256256G>T	uc003yhs.1	-	c.950C>A	c.(949-951)ACC>AAC	p.T317N	MTERFD1_uc003yhr.1_Missense_Mutation_p.T196N|MTERFD1_uc010mbd.1_Missense_Mutation_p.T317N	NM_015942	NP_057026	Q96E29	MTER1_HUMAN	MTERF domain containing 1 precursor	317					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	promoter binding			ovary(1)	1	Breast(36;5.16e-05)													0.210526	40.460644	46.349677	16	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97256256	97256256	10312	8	G	T	T	T	572	44	MTERFD1	2	2
SVEP1	79987	broad.mit.edu	37	9	113148345	113148345	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:113148345C>A	uc010mtz.2	-	c.10070G>T	c.(10069-10071)TGC>TTC	p.C3357F	SVEP1_uc010mty.2_Missense_Mutation_p.C1283F	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	3357	Sushi 33.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7														0.21875	50.41902	57.419033	21	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113148345	113148345	15940	9	C	A	A	A	325	25	SVEP1	2	2
MUSK	4593	broad.mit.edu	37	9	113510054	113510054	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:113510054A>T	uc004bey.2	+	c.887A>T	c.(886-888)AAG>ATG	p.K296M	MUSK_uc004bex.2_Missense_Mutation_p.K306M	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	296	Ig-like 3.|Extracellular (Potential).				protein phosphorylation	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			ovary(2)|lung(2)|central_nervous_system(1)	5										297				0.28125	41.792138	44.568791	18	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113510054	113510054	10383	9	A	T	T	T	39	3	MUSK	3	3
ZNF618	114991	broad.mit.edu	37	9	116811997	116811997	+	Silent	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:116811997C>T	uc004bid.2	+	c.2415C>T	c.(2413-2415)GCC>GCT	p.A805A	ZNF618_uc004bic.2_Silent_p.A712A|ZNF618_uc011lxi.1_Silent_p.A772A|ZNF618_uc011lxj.1_Silent_p.A773A|ZNF618_uc010mvb.2_Silent_p.A395A	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	805					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.218182	28.380812	32.399521	12	43	KEEP	---	---	---	---	capture		Silent	SNP	116811997	116811997	18637	9	C	T	T	T	262	21	ZNF618	2	2
NOTCH1	4851	broad.mit.edu	37	9	139413994	139413994	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:139413994C>G	uc004chz.2	-	c.766G>C	c.(766-768)GAA>CAA	p.E256Q		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	256	Extracellular (Potential).				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)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)						1552				0.162264	97.716241	126.552693	43	222	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139413994	139413994	10950	9	C	G	G	G	390	30	NOTCH1	3	3
GRIN1	2902	broad.mit.edu	37	9	140058266	140058266	+	Silent	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:140058266C>A	uc004cln.2	+	c.2553C>A	c.(2551-2553)ATC>ATA	p.I851I	GRIN1_uc004cli.1_Silent_p.I508I|GRIN1_uc004clj.1_Silent_p.I830I|GRIN1_uc004clk.2_Silent_p.I833I|GRIN1_uc004cll.2_Silent_p.I833I|GRIN1_uc004clm.2_Silent_p.I833I|GRIN1_uc004clo.2_Silent_p.I851I	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	NMDA receptor 1 isoform NR1-3 precursor	833	Helical; (Potential).				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	NSCLC(113;717 1653 2089 20474 37618)								0.218182	51.835506	59.893776	24	86	KEEP	---	---	---	---	capture		Silent	SNP	140058266	140058266	7057	9	C	A	A	A	395	31	GRIN1	1	1
SLC24A2	25769	broad.mit.edu	37	9	19597236	19597236	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:19597236T>C	uc003zoa.1	-	c.1120A>G	c.(1120-1122)ACT>GCT	p.T374A	SLC24A2_uc003zob.1_Intron	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	solute carrier family 24	374	Cytoplasmic (Potential).				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(3)	3				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)										0.136364	6.611223	9.426331	3	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19597236	19597236	14963	9	T	C	C	C	754	58	SLC24A2	4	4
TAF1L	138474	broad.mit.edu	37	9	32631299	32631299	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:32631299G>T	uc003zrg.1	-	c.4279C>A	c.(4279-4281)CCA>ACA	p.P1427T		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1427	Bromo 1.				male meiosis|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding|transcription activator activity			lung(8)|large_intestine(3)|central_nervous_system(3)|skin(2)|ovary(2)|breast(1)|pancreas(1)	20			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)						234				0.239247	199.979005	223.083712	89	283	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32631299	32631299	16044	9	G	T	T	T	533	41	TAF1L	2	2
TMEM2	23670	broad.mit.edu	37	9	74305045	74305045	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:74305045G>A	uc011lsa.1	-	c.3814C>T	c.(3814-3816)CGC>TGC	p.R1272C	TMEM2_uc011lrz.1_Missense_Mutation_p.R265C|TMEM2_uc010mos.2_Missense_Mutation_p.R1209C|TMEM2_uc011lsb.1_Non-coding_Transcript|TMEM2_uc004aik.2_Missense_Mutation_p.R106C	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	1272						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)										0.053571	-23.194575	23.925516	12	212	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74305045	74305045	16656	9	G	A	A	A	481	37	TMEM2	1	1
GPRASP1	9737	broad.mit.edu	37	X	101910160	101910161	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:101910160_101910161GG>TT	uc004ejj.3	+	c.1319_1320GG>TT	c.(1318-1320)TGG>TTT	p.W440F	GPRASP1_uc004eji.3_Missense_Mutation_p.W440F|GPRASP1_uc010nod.2_Missense_Mutation_p.W440F	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	440						cytoplasm	protein binding			ovary(1)|lung(1)	2														0.090498	9.419329	46.806066	20	201	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	101910160	101910161	6998	23	GG	TT	TT	TT	611	47	GPRASP1	2	2
H2BFWT	158983	broad.mit.edu	37	X	103268141	103268141	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:103268141C>G	uc004elr.2	-	c.92G>C	c.(91-93)GGA>GCA	p.G31A		NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	31					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			ovary(1)	1														0.107143	2.806028	7.094756	3	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103268141	103268141	7214	23	C	G	G	G	390	30	H2BFWT	3	3
NRK	203447	broad.mit.edu	37	X	105150543	105150543	+	Missense_Mutation	SNP	A	G	G			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:105150543A>G	uc004emd.2	+	c.982A>G	c.(982-984)AGG>GGG	p.R328G	NRK_uc010npc.1_5'UTR	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	328					protein phosphorylation		ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14										430				0.25	6.746185	7.200567	2	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105150543	105150543	11060	23	A	G	G	G	36	3	NRK	4	4
PRPS1	5631	broad.mit.edu	37	X	106882646	106882646	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:106882646G>A	uc004ene.3	+	c.244G>A	c.(244-246)GCC>ACC	p.A82T	PRPS1_uc010npg.2_Missense_Mutation_p.A82T|PRPS1_uc011msj.1_Intron	NM_002764	NP_002755	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	82					5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(3)|large_intestine(1)	4														0.110482	34.765695	87.760237	39	314	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106882646	106882646	13021	23	G	A	A	A	442	34	PRPS1	2	2
COL4A6	1288	broad.mit.edu	37	X	107422549	107422549	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:107422549C>A	uc004enw.3	-	c.2254G>T	c.(2254-2256)GAC>TAC	p.D752Y	COL4A6_uc004env.3_Missense_Mutation_p.D751Y|COL4A6_uc011msn.1_Missense_Mutation_p.D751Y|COL4A6_uc010npk.2_Missense_Mutation_p.D751Y	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	752	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						Melanoma(87;1895 1945 2589 7165)								0.090278	2.855408	27.25497	13	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107422549	107422549	3833	23	C	A	A	A	377	29	COL4A6	2	2
COL4A5	1287	broad.mit.edu	37	X	107842032	107842032	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:107842032C>T	uc004enz.1	+	c.1880C>T	c.(1879-1881)CCT>CTT	p.P627L	COL4A5_uc011mso.1_Missense_Mutation_p.P627L|COL4A5_uc004eob.1_Missense_Mutation_p.P235L	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	627	Triple-helical region.			FGPP -> LALQ (in Ref. 5; AAA99480).	axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4														0.096	9.813076	30.266275	12	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107842032	107842032	3832	23	C	T	T	T	312	24	COL4A5	2	2
KCNE1L	23630	broad.mit.edu	37	X	108867958	108867958	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:108867958A>T	uc004eoh.2	-	c.292T>A	c.(292-294)TGC>AGC	p.C98S		NM_012282	NP_036414	Q9UJ90	KCE1L_HUMAN	potassium voltage-gated channel, Isk-related	98	Cytoplasmic (Potential).				regulation of heart contraction	voltage-gated potassium channel complex					0														0.107143	3.313225	7.593137	3	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108867958	108867958	8327	23	A	T	T	T	65	5	KCNE1L	3	3
HTR2C	3358	broad.mit.edu	37	X	114141546	114141546	+	Silent	SNP	T	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:114141546T>A	uc004epu.1	+	c.945T>A	c.(943-945)ATT>ATA	p.I315I	HTR2C_uc010nqc.1_Silent_p.I315I|HTR2C_uc004epv.1_3'UTR	NM_000868	NP_000859	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C	315	Helical; Name=6; (By similarity).				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|serotonin receptor signaling pathway|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			ovary(3)	3					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)									0.032573	-56.692761	16.57316	10	297	KEEP	---	---	---	---	capture		Silent	SNP	114141546	114141546	7743	23	T	A	A	A	809	63	HTR2C	3	3
CXorf56	63932	broad.mit.edu	37	X	118673720	118673720	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:118673720C>A	uc004erk.1	-	c.639G>T	c.(637-639)AAG>AAT	p.K213N	CXorf56_uc004erj.1_Missense_Mutation_p.K164N|CXorf56_uc011mtu.1_Missense_Mutation_p.K199N	NM_022101	NP_071384	Q9H5V9	CX056_HUMAN	hypothetical protein LOC63932	213	Potential.						protein binding				0														0.116667	8.3869	17.056859	7	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118673720	118673720	4276	23	C	A	A	A	311	24	CXorf56	2	2
SEPT6	23157	broad.mit.edu	37	X	118771019	118771019	+	Silent	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:118771019C>T	uc011mtw.1	-	c.1017G>A	c.(1015-1017)AAG>AAA	p.K339K	SEPT6_uc010nqk.2_Intron|SEPT6_uc004ers.2_Silent_p.K309K|SEPT6_uc004ert.2_Silent_p.K309K|SEPT6_uc004eru.2_Silent_p.K309K|SEPT6_uc004erv.2_Silent_p.K309K|SEPT6_uc004erw.2_Silent_p.K251K|SEPT6_uc011mtv.1_Silent_p.K251K	NM_145800	NP_665799	Q14141	SEPT6_HUMAN	septin 6 isoform A	309					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			kidney(1)	1										265				0.106383	9.712632	24.146601	10	84	KEEP	---	---	---	---	capture		Silent	SNP	118771019	118771019	14554	23	C	T	T	T	311	24	SEPT6	2	2
SEPT6	23157	broad.mit.edu	37	X	118783987	118783987	+	Silent	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:118783987G>A	uc011mtw.1	-	c.693C>T	c.(691-693)ATC>ATT	p.I231I	SEPT6_uc010nqk.2_Non-coding_Transcript|SEPT6_uc004ers.2_Silent_p.I201I|SEPT6_uc004ert.2_Silent_p.I201I|SEPT6_uc004eru.2_Silent_p.I201I|SEPT6_uc004erv.2_Silent_p.I201I|SEPT6_uc004erw.2_Silent_p.I143I|SEPT6_uc011mtv.1_Silent_p.I143I	NM_145800	NP_665799	Q14141	SEPT6_HUMAN	septin 6 isoform A	201					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			kidney(1)	1										265				0.151515	78.521725	116.924344	50	280	KEEP	---	---	---	---	capture		Silent	SNP	118783987	118783987	14554	23	G	A	A	A	577	45	SEPT6	2	2
RHOXF1	158800	broad.mit.edu	37	X	119243227	119243227	+	Silent	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:119243227G>T	uc004esk.1	-	c.478C>A	c.(478-480)CGA>AGA	p.R160R		NM_139282	NP_644811	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	160	Homeobox.|Nuclear localization signal.				gamete generation|multicellular organismal development|regulation of transcription, DNA-dependent|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0														0.057692	-3.818761	6.852452	3	49	KEEP	---	---	---	---	capture		Silent	SNP	119243227	119243227	13822	23	G	T	T	T	493	38	RHOXF1	1	1
ARHGAP36	158763	broad.mit.edu	37	X	130220349	130220349	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:130220349C>T	uc004evz.2	+	c.1328C>T	c.(1327-1329)TCC>TTC	p.S443F	ARHGAP36_uc004ewa.2_Missense_Mutation_p.S431F|ARHGAP36_uc004ewb.2_Missense_Mutation_p.S412F|ARHGAP36_uc004ewc.2_Missense_Mutation_p.S307F	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	hypothetical protein LOC158763 precursor	443					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)	3														0.099099	6.856927	24.68954	11	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130220349	130220349	895	23	C	T	T	T	390	30	ARHGAP36	2	2
IGSF1	3547	broad.mit.edu	37	X	130407900	130407900	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:130407900G>T	uc004ewd.2	-	c.3881C>A	c.(3880-3882)TCA>TAA	p.S1294*	IGSF1_uc004ewe.3_Nonsense_Mutation_p.S1288*|IGSF1_uc004ewf.2_Nonsense_Mutation_p.S1274*	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	1294	Extracellular (Potential).				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5														0.095794	17.253107	87.413374	41	387	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	130407900	130407900	7897	23	G	T	T	T	585	45	IGSF1	5	2
PLAC1	10761	broad.mit.edu	37	X	133700520	133700520	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:133700520G>T	uc004exo.1	-	c.193C>A	c.(193-195)CAT>AAT	p.H65N	PLAC1_uc004exp.1_Missense_Mutation_p.H65N	NM_021796	NP_068568	Q9HBJ0	PLAC1_HUMAN	placenta-specific 1 precursor	65					placenta development	extracellular region				pancreas(1)	1	Acute lymphoblastic leukemia(192;0.000127)													0.12069	33.625403	66.368834	28	204	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133700520	133700520	12438	23	G	T	T	T	611	47	PLAC1	2	2
CT45A5	441521	broad.mit.edu	37	X	134947928	134947928	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:134947928C>A	uc004eze.2	-	c.397G>T	c.(397-399)GAA>TAA	p.E133*	CT45A5_uc011mvu.1_Nonsense_Mutation_p.E133*	NM_001007551	NP_001007552	Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5	133											0														0.107143	13.412623	43.466766	21	175	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	134947928	134947928	4133	23	C	A	A	A	390	30	CT45A5	5	2
VGLL1	51442	broad.mit.edu	37	X	135618242	135618242	+	Silent	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135618242G>A	uc004ezy.2	+	c.63G>A	c.(61-63)ACG>ACA	p.T21T		NM_016267	NP_057351	Q99990	VGLL1_HUMAN	vestigial like 1	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity|transcription regulator activity				0	Acute lymphoblastic leukemia(192;0.000127)													0.051724	-11.844155	12.814292	6	110	KEEP	---	---	---	---	capture		Silent	SNP	135618242	135618242	17725	23	G	A	A	A	496	39	VGLL1	1	1
SLITRK2	84631	broad.mit.edu	37	X	144904139	144904139	+	Nonsense_Mutation	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:144904139C>T	uc004fcd.2	+	c.196C>T	c.(196-198)CAG>TAG	p.Q66*	SLITRK2_uc010nsp.2_Nonsense_Mutation_p.Q66*|SLITRK2_uc010nso.2_Nonsense_Mutation_p.Q66*|SLITRK2_uc011mwq.1_Nonsense_Mutation_p.Q66*|SLITRK2_uc011mwr.1_Nonsense_Mutation_p.Q66*|SLITRK2_uc011mws.1_Nonsense_Mutation_p.Q66*|SLITRK2_uc004fcg.2_Nonsense_Mutation_p.Q66*|SLITRK2_uc011mwt.1_Nonsense_Mutation_p.Q66*	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	66	Extracellular (Potential).|LRR 1.					integral to membrane				ovary(4)|pancreas(1)	5	Acute lymphoblastic leukemia(192;6.56e-05)													0.143646	38.121441	60.282284	26	155	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	144904139	144904139	15241	23	C	T	T	T	377	29	SLITRK2	5	2
AFF2	2334	broad.mit.edu	37	X	148037249	148037249	+	Silent	SNP	G	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:148037249G>C	uc004fcp.2	+	c.1674G>C	c.(1672-1674)CTG>CTC	p.L558L	AFF2_uc004fcq.2_Silent_p.L548L|AFF2_uc004fcr.2_Silent_p.L519L|AFF2_uc011mxb.1_Silent_p.L523L|AFF2_uc004fcs.2_Silent_p.L525L|AFF2_uc011mxc.1_Silent_p.L199L	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	558					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)													0.165595	240.643213	306.578628	103	519	KEEP	---	---	---	---	capture		Silent	SNP	148037249	148037249	358	23	G	C	C	C	587	46	AFF2	3	3
PDZD4	57595	broad.mit.edu	37	X	153068961	153068961	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153068961G>T	uc004fja.1	-	c.2175C>A	c.(2173-2175)AAC>AAA	p.N725K	PDZD4_uc004fiy.1_Missense_Mutation_p.N644K|PDZD4_uc004fiz.1_Missense_Mutation_p.N719K|PDZD4_uc004fix.2_Missense_Mutation_p.N623K|PDZD4_uc011mze.1_Missense_Mutation_p.N610K	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	719						cell cortex				breast(1)	1	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.055046	-9.738331	12.981377	6	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153068961	153068961	12124	23	G	T	T	T	620	48	PDZD4	2	2
ASMT	438	broad.mit.edu	37	X	1755382	1755382	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:1755382G>T	uc004cqd.2	+	c.839G>T	c.(838-840)AGG>ATG	p.R280M	ASMT_uc010ncy.2_Missense_Mutation_p.R280M|ASMT_uc004cqe.2_Missense_Mutation_p.R205M	NM_004043	NP_004034	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	252					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			skin(1)	1		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)												0.215625	155.388088	179.28528	69	251	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1755382	1755382	1064	23	G	T	T	T	455	35	ASMT	2	2
GPR64	10149	broad.mit.edu	37	X	19046303	19046303	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:19046303G>T	uc004cyx.2	-	c.412C>A	c.(412-414)CAG>AAG	p.Q138K	GPR64_uc004cyy.2_Missense_Mutation_p.Q135K|GPR64_uc004cyz.2_Missense_Mutation_p.Q124K|GPR64_uc004czb.2_Missense_Mutation_p.Q138K|GPR64_uc004czc.2_Missense_Mutation_p.Q122K|GPR64_uc004czd.2_Missense_Mutation_p.Q114K|GPR64_uc004cze.2_Missense_Mutation_p.Q108K|GPR64_uc004czf.2_Missense_Mutation_p.Q100K|GPR64_uc004cza.2_Missense_Mutation_p.Q116K|GPR64_uc004cyw.2_Missense_Mutation_p.Q122K|GPR64_uc010nfj.2_Missense_Mutation_p.Q108K	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	138	Extracellular (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)													0.185185	31.774885	39.303641	15	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19046303	19046303	6980	23	G	T	T	T	611	47	GPR64	2	2
MAP3K15	389840	broad.mit.edu	37	X	19398322	19398322	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:19398322C>A	uc004czk.1	-	c.930G>T	c.(928-930)TGG>TGT	p.W310C	MAP3K15_uc004czj.1_Missense_Mutation_p.W270C	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase	835	Protein kinase.				protein phosphorylation		ATP binding|MAP kinase kinase kinase activity|metal ion binding			ovary(3)|lung(2)|skin(1)	6	Hepatocellular(33;0.183)													0.222222	13.455745	15.358248	6	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19398322	19398322	9632	23	C	A	A	A	234	18	MAP3K15	2	2
MAGEB18	286514	broad.mit.edu	37	X	26157899	26157899	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:26157899G>C	uc004dbq.1	+	c.797G>C	c.(796-798)CGC>CCC	p.R266P		NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	266	MAGE.						protein binding			central_nervous_system(1)	1														0.138889	10.552056	15.08693	5	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26157899	26157899	9556	23	G	C	C	C	494	38	MAGEB18	3	3
ARAF	369	broad.mit.edu	37	X	47426121	47426121	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:47426121C>T	uc011mlq.1	+	c.641C>T	c.(640-642)TCC>TTC	p.S214F	ARAF_uc011mln.1_Intron|ARAF_uc011mlo.1_Missense_Mutation_p.S80F|ARAF_uc011mlp.1_Missense_Mutation_p.S214F|ARAF_uc004dic.1_5'UTR	NM_001654	NP_001645	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene	214					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation|protein phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			large_intestine(3)|lung(1)|ovary(1)	5					Adenosine triphosphate(DB00171)					119				0.285714	35.328707	37.348705	14	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47426121	47426121	848	23	C	T	T	T	390	30	ARAF	2	2
WDR13	64743	broad.mit.edu	37	X	48457296	48457296	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:48457296A>T	uc004dkh.1	+	c.233A>T	c.(232-234)TAT>TTT	p.Y78F	WDR13_uc010nif.1_Intron|WDR13_uc004dki.1_5'UTR|WDR13_uc004dkj.1_Missense_Mutation_p.Y78F|WDR13_uc004dkk.1_5'UTR|WDR13_uc004dkl.3_5'UTR|WDR13_uc011mme.1_5'Flank	NM_017883	NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13 protein	78						cytoplasm|nucleus				ovary(2)	2														0.227273	23.832783	26.832497	10	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48457296	48457296	17848	23	A	T	T	T	208	16	WDR13	3	3
CACNA1F	778	broad.mit.edu	37	X	49063289	49063289	+	Silent	SNP	C	G	G			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:49063289C>G	uc004dnb.2	-	c.5292G>C	c.(5290-5292)GGG>GGC	p.G1764G	CACNA1F_uc010nip.2_Silent_p.G1753G	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	1764	Cytoplasmic (Potential).				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				0.139535	23.342827	34.135747	12	74	KEEP	---	---	---	---	capture		Silent	SNP	49063289	49063289	2659	23	C	G	G	G	379	30	CACNA1F	3	3
NLGN4X	57502	broad.mit.edu	37	X	5821792	5821792	+	Silent	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:5821792C>T	uc010ndi.2	-	c.1038G>A	c.(1036-1038)CTG>CTA	p.L346L	NLGN4X_uc004crp.2_Silent_p.L329L|NLGN4X_uc010ndh.2_Silent_p.L309L|NLGN4X_uc004crq.2_Silent_p.L309L|NLGN4X_uc004crr.2_Silent_p.L309L|NLGN4X_uc010ndj.2_Silent_p.L309L	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	309	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|regulation of synaptic transmission|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	carboxylesterase activity|chloride ion binding|neurexin binding|protein homodimerization activity			large_intestine(1)|skin(1)	2														0.186992	44.141845	55.442552	23	100	KEEP	---	---	---	---	capture		Silent	SNP	5821792	5821792	10867	23	C	T	T	T	262	21	NLGN4X	2	2
STARD8	9754	broad.mit.edu	37	X	67937356	67937356	+	Silent	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:67937356C>A	uc004dxb.2	+	c.600C>A	c.(598-600)GCC>GCA	p.A200A	STARD8_uc004dxa.2_Silent_p.A120A|STARD8_uc004dxc.3_Silent_p.A120A	NM_001142503	NP_001135975	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain	120					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			breast(3)|ovary(2)|pancreas(1)	6														0.104348	9.115566	26.937921	12	103	KEEP	---	---	---	---	capture		Silent	SNP	67937356	67937356	15782	23	C	A	A	A	262	21	STARD8	2	2
STARD8	9754	broad.mit.edu	37	X	67941413	67941413	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:67941413G>T	uc004dxb.2	+	c.2284G>T	c.(2284-2286)GCC>TCC	p.A762S	STARD8_uc004dxa.2_Missense_Mutation_p.A682S|STARD8_uc004dxc.3_Missense_Mutation_p.A682S	NM_001142503	NP_001135975	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain	682	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			breast(3)|ovary(2)|pancreas(1)	6														0.186275	36.966759	46.37424	19	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67941413	67941413	15782	23	G	T	T	T	442	34	STARD8	2	2
TEX11	56159	broad.mit.edu	37	X	69849576	69849576	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:69849576G>T	uc004dyl.2	-	c.1538C>A	c.(1537-1539)GCA>GAA	p.A513E	TEX11_uc004dyk.2_Missense_Mutation_p.A188E|TEX11_uc004dym.2_Missense_Mutation_p.A498E	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	testis expressed sequence 11 isoform 1	513							protein binding			ovary(3)|breast(1)|skin(1)	5	Renal(35;0.156)													0.075758	-1.57841	10.600782	5	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69849576	69849576	16301	23	G	T	T	T	598	46	TEX11	2	2
RGAG4	340526	broad.mit.edu	37	X	71350872	71350872	+	Silent	SNP	G	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:71350872G>A	uc010nlh.1	-	c.519C>T	c.(517-519)TTC>TTT	p.F173F	NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_Non-coding_Transcript|NHSL2_uc004eak.1_5'Flank	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	173										ovary(2)|skin(1)	3	Renal(35;0.156)													0.229167	25.39767	28.628479	11	37	KEEP	---	---	---	---	capture		Silent	SNP	71350872	71350872	13748	23	G	A	A	A	581	45	RGAG4	2	2
RLIM	51132	broad.mit.edu	37	X	73812218	73812218	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:73812218C>A	uc004ebu.2	-	c.932G>T	c.(931-933)GGA>GTA	p.G311V	RLIM_uc004ebw.2_Missense_Mutation_p.G311V	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	311					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						Esophageal Squamous(169;1899 1923 14997 18818 32118)								0.084746	-0.47474	9.855947	5	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73812218	73812218	13867	23	C	A	A	A	390	30	RLIM	2	2
ABCB7	22	broad.mit.edu	37	X	74273349	74273349	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:74273349C>G	uc004ebz.2	-	c.2118G>C	c.(2116-2118)TGG>TGC	p.W706C	ABCB7_uc004eca.2_Missense_Mutation_p.W705C|ABCB7_uc011mqn.1_Missense_Mutation_p.W679C|ABCB7_uc010nls.2_Missense_Mutation_p.W666C|ABCB7_uc010nlt.2_Missense_Mutation_p.W665C	NM_004299	NP_004290	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B, member 7	705	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			ovary(1)	1														0.133333	11.321794	17.190194	6	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74273349	74273349	47	23	C	G	G	G	338	26	ABCB7	3	3
PABPC5	140886	broad.mit.edu	37	X	90690839	90690839	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:90690839C>T	uc004efg.2	+	c.263C>T	c.(262-264)CCA>CTA	p.P88L	PABPC5_uc004eff.1_Intron	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	88	RRM 1.					cytoplasm	nucleotide binding|RNA binding			ovary(1)|lung(1)|pancreas(1)	3														0.176471	32.97064	41.357497	15	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90690839	90690839	11783	23	C	T	T	T	273	21	PABPC5	2	2
PABPC5	140886	broad.mit.edu	37	X	90690948	90690948	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:90690948C>A	uc004efg.2	+	c.372C>A	c.(370-372)TAC>TAA	p.Y124*	PABPC5_uc004eff.1_Intron	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	124	RRM 2.					cytoplasm	nucleotide binding|RNA binding			ovary(1)|lung(1)|pancreas(1)	3														0.165975	77.753717	103.25709	40	201	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	90690948	90690948	11783	23	C	A	A	A	259	20	PABPC5	5	2
PCDH11X	27328	broad.mit.edu	37	X	91642839	91642839	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:91642839G>T	uc004efk.1	+	c.3250G>T	c.(3250-3252)GGC>TGC	p.G1084C	PCDH11X_uc004efl.1_Missense_Mutation_p.G1074C|PCDH11X_uc004efo.1_Missense_Mutation_p.G1047C|PCDH11X_uc010nmv.1_Intron|PCDH11X_uc004efm.1_Missense_Mutation_p.G1084C|PCDH11X_uc004efn.1_Missense_Mutation_p.G1074C	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	1084	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						NSCLC(38;925 1092 2571 38200 45895)								0.141176	18.841168	29.401753	12	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91642839	91642839	11928	23	G	T	T	T	611	47	PCDH11X	2	2
SYTL4	94121	broad.mit.edu	37	X	99943410	99943410	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:99943410G>T	uc004egd.3	-	c.943C>A	c.(943-945)CAC>AAC	p.H315N	SYTL4_uc010nnb.2_5'UTR|SYTL4_uc010nnc.2_Missense_Mutation_p.H315N|SYTL4_uc004ege.3_Missense_Mutation_p.H315N|SYTL4_uc004egf.3_Missense_Mutation_p.H315N|SYTL4_uc004egg.3_Missense_Mutation_p.H315N	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	315					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			ovary(2)	2					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)									0.103093	7.801186	23.001529	10	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99943410	99943410	16006	23	G	T	T	T	611	47	SYTL4	2	2
CALM2	805	broad.mit.edu	37	2	47387941	47387942	+	Frame_Shift_Ins	INS	-	CT	CT	rs11551462		TCGA-44-2657-01	TCGA-44-2657-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:47387941_47387942insCT	uc002rvt.2	-	c.423_424insAG	c.(421-426)GAGTTTfs	p.E141fs	C2orf61_uc010fbd.2_Intron|CALM2_uc010fbe.2_Non-coding_Transcript	NM_001743	NP_001734	P62158	CALM_HUMAN	calmodulin 2	141_142	EF-hand 4.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding	p.0?(2)			0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)									0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	47387941	47387942	2702	2	-	CT	CT	CT	26	2	CALM2	5	5
