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	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	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	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values
RHCE	6006	broad.mit.edu	37	1	25712312	25712312	+	Silent	SNP	C	C	T			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr1:25712312C>T	uc001bkf.2	-	7	1049	c.963G>A	c.(961-963)GGG>GGA	p.G321G	RHCE_uc001bkg.2_Intron|RHCE_uc001bkh.2_Silent_p.G216G|RHCE_uc001bki.2_Silent_p.G170G|RHCE_uc001bkj.2_Silent_p.G305G	NM_020485	NP_065231	P18577	RHCE_HUMAN	Rhesus blood group, CcEe antigens isoform 1	321						integral to plasma membrane					0		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		TGTGGTGAATCCCCAGCACTC	0.512												
LRRC7	57554	broad.mit.edu	37	1	70503883	70503883	+	Silent	SNP	T	T	C			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr1:70503883T>C	uc001dep.2	+	19	2292	c.2262T>C	c.(2260-2262)CGT>CGC	p.R754R	LRRC7_uc009wbg.2_Silent_p.R38R|LRRC7_uc001deq.2_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	754						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						TACCACAGCGTCCTGACCGGC	0.517												
SLC44A5	204962	broad.mit.edu	37	1	75680342	75680342	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr1:75680342A>C	uc001dgu.2	-	20	1894	c.1750T>G	c.(1750-1752)TTC>GTC	p.F584V	SLC44A5_uc001dgt.2_Missense_Mutation_p.F584V|SLC44A5_uc001dgs.2_Missense_Mutation_p.F542V|SLC44A5_uc001dgr.2_Missense_Mutation_p.F542V|SLC44A5_uc010oqz.1_Missense_Mutation_p.F623V|SLC44A5_uc010ora.1_Missense_Mutation_p.F578V|SLC44A5_uc010orb.1_Missense_Mutation_p.F454V	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5 isoform A	584	Cytoplasmic (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			ovary(2)|skin(2)	4						GACCTGCAGAAGTTTCTGCCA	0.383												
COL24A1	255631	broad.mit.edu	37	1	86241374	86241374	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr1:86241374C>T	uc001dlj.2	-	53	4399	c.4357G>A	c.(4357-4359)GGC>AGC	p.G1453S	COL24A1_uc001dli.2_Missense_Mutation_p.G589S|COL24A1_uc010osd.1_Missense_Mutation_p.G753S|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_Intron	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	1453	Collagen-like 17.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		CCTCTAAAGCCCTTTTCACCT	0.244												
ITGA10	8515	broad.mit.edu	37	1	145537786	145537786	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr1:145537786G>A	uc001eoa.2	+	21	2700	c.2624G>A	c.(2623-2625)CGG>CAG	p.R875Q	NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.R744Q|ITGA10_uc009wiw.2_Missense_Mutation_p.R732Q|ITGA10_uc010oyw.1_Missense_Mutation_p.R820Q	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	875	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCTCATGCCCGGCTCTGCAGT	0.592												
LCE1A	353131	broad.mit.edu	37	1	152800031	152800031	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr1:152800031A>C	uc010pdw.1	+	1	83	c.83A>C	c.(82-84)AAG>ACG	p.K28T		NM_178348	NP_848125	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	28	Cys-rich.				keratinization					ovary(1)|skin(1)	2	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			cccactcctaagtgcccccca	0.423												
SPTA1	6708	broad.mit.edu	37	1	158654936	158654936	+	Silent	SNP	A	A	G			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr1:158654936A>G	uc001fst.1	-	2	425	c.226T>C	c.(226-228)TTA>CTA	p.L76L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	76	Spectrin 2.				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)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TTATCGGTTAAGATATTGACT	0.284												
PAPPA2	60676	broad.mit.edu	37	1	176668606	176668606	+	Silent	SNP	G	G	A			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr1:176668606G>A	uc001gkz.2	+	8	4281	c.3117G>A	c.(3115-3117)CAG>CAA	p.Q1039Q	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1039					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						TGACTTCTCAGCCCCACAGTC	0.557												
ASTN1	460	broad.mit.edu	37	1	176992545	176992545	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr1:176992545T>C	uc001glc.2	-	7	1645	c.1433A>G	c.(1432-1434)GAA>GGA	p.E478G	ASTN1_uc001glb.1_Missense_Mutation_p.E478G|ASTN1_uc001gld.1_Missense_Mutation_p.E478G|ASTN1_uc009wwx.1_Missense_Mutation_p.E478G|ASTN1_uc001gle.3_RNA	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	478	EGF-like 1.				cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						CCTACCAGTTTCGGGGTCACA	0.597												
KCNT2	343450	broad.mit.edu	37	1	196309524	196309524	+	Missense_Mutation	SNP	G	G	A	rs140538298		TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr1:196309524G>A	uc001gtd.1	-	16	1790	c.1730C>T	c.(1729-1731)TCG>TTG	p.S577L	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.S527L|KCNT2_uc001gtf.1_Missense_Mutation_p.S577L|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.S577L|KCNT2_uc001gth.1_Missense_Mutation_p.S98L	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	577	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						ATGATAAAACGACCTGGACAC	0.299												
OBSCN	84033	broad.mit.edu	37	1	228432100	228432100	+	Silent	SNP	G	G	A			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr1:228432100G>A	uc009xez.1	+	11	3353	c.3309G>A	c.(3307-3309)ACG>ACA	p.T1103T	OBSCN_uc001hsn.2_Silent_p.T1103T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1103	Ig-like 11.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGGCCCAGACGGAGGTGACGT	0.602												
CHML	1122	broad.mit.edu	37	1	241797705	241797705	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr1:241797705G>C	uc001hzd.2	-	1	1528	c.1364C>G	c.(1363-1365)TCT>TGT	p.S455C	OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron	NM_001821	NP_001812	P26374	RAE2_HUMAN	choroideremia-like Rab escort protein 2	455					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			ovary(4)|skin(2)	6	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TACTGCCCTAGAGATCTGCTT	0.388												
OR2T6	254879	broad.mit.edu	37	1	248551519	248551519	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr1:248551519G>A	uc001iei.1	+	1	610	c.610G>A	c.(610-612)GTT>ATT	p.V204I		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	204	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	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)			TGTGTGCTGCGTTGCAATGCT	0.517												
ZWINT	11130	broad.mit.edu	37	10	58120973	58120973	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr10:58120973C>A	uc001jjx.1	-	1	62	c.25G>T	c.(25-27)GAA>TAA	p.E9*	ZWINT_uc001jjy.1_Nonsense_Mutation_p.E9*|ZWINT_uc001jka.1_Nonsense_Mutation_p.E9*|ZWINT_uc009xoy.1_RNA	NM_007057	NP_008988	O95229	ZWINT_HUMAN	ZW10 interactor isoform a	9					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding				0						GCTGCAGCTTCCGCCTCTGTC	0.592												
PNLIPRP3	119548	broad.mit.edu	37	10	118236283	118236283	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr10:118236283A>C	uc001lcl.3	+	11	1393	c.1292A>C	c.(1291-1293)AAG>ACG	p.K431T		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3 precursor	431	PLAT.				lipid catabolic process	extracellular region	triglyceride lipase activity			ovary(1)	1				all cancers(201;0.0131)		TCTCAGAATAAGTTGGGAGCA	0.303												
OR51A7	119687	broad.mit.edu	37	11	4928970	4928970	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr11:4928970T>G	uc010qyq.1	+	1	371	c.371T>G	c.(370-372)CTT>CGT	p.L124R		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A,	124	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GACCGCTTTCTTGCCATTCAC	0.393												
ZNF214	7761	broad.mit.edu	37	11	7022511	7022511	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr11:7022511T>G	uc001mfa.2	-	3	706	c.403A>C	c.(403-405)AAT>CAT	p.N135H	ZNF214_uc010ray.1_Missense_Mutation_p.N135H|ZNF214_uc009yfh.1_Missense_Mutation_p.N135H	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	zinc finger protein 214	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		GGCATAAAATTTTTATATTTT	0.398												
NELL1	4745	broad.mit.edu	37	11	20907013	20907013	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr11:20907013C>T	uc001mqe.2	+	5	683	c.530C>T	c.(529-531)CCT>CTT	p.P177L	NELL1_uc001mqf.2_Missense_Mutation_p.P177L|NELL1_uc009yid.2_Missense_Mutation_p.P205L|NELL1_uc010rdo.1_Missense_Mutation_p.P120L|NELL1_uc010rdp.1_Intron	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	177	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						GTGATAGACCCTCCAGATACC	0.413												
BDNF	627	broad.mit.edu	37	11	27680025	27680025	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr11:27680025T>G	uc010rdu.1	-	2	938	c.87A>C	c.(85-87)CAA>CAC	p.Q29H	BDNFOS_uc001mrm.2_Intron|BDNFOS_uc009yij.2_RNA|BDNFOS_uc009yik.2_Intron|BDNFOS_uc009yil.2_RNA|BDNFOS_uc001mrp.2_Intron|BDNFOS_uc009yim.2_RNA|BDNFOS_uc009yin.2_Intron|BDNFOS_uc009yio.2_RNA|BDNFOS_uc009yip.2_RNA|BDNFOS_uc001mrn.2_Intron|BDNFOS_uc009yiq.2_RNA|BDNFOS_uc001mro.2_Intron|BDNFOS_uc009yir.2_RNA|BDNFOS_uc009yis.2_Intron|BDNFOS_uc009yit.2_Intron|BDNFOS_uc009yiu.2_RNA|BDNFOS_uc009yiv.2_Intron|BDNFOS_uc009yiw.2_RNA|BDNFOS_uc009yix.2_Intron|BDNFOS_uc009yiy.2_RNA|BDNFOS_uc009yiz.2_RNA|BDNFOS_uc001mrq.3_Intron|BDNFOS_uc001mrr.3_Intron|BDNFOS_uc009yja.2_Intron|BDNFOS_uc009yjb.2_RNA|BDNF_uc010rdv.1_Missense_Mutation_p.Q29H|BDNF_uc001mrt.2_Missense_Mutation_p.Q44H|BDNF_uc010rdw.1_Missense_Mutation_p.Q29H|BDNF_uc009yjd.2_Missense_Mutation_p.Q29H|BDNF_uc001mru.2_Missense_Mutation_p.Q29H|BDNF_uc010rdx.1_Missense_Mutation_p.Q29H|BDNF_uc010rdy.1_Missense_Mutation_p.Q29H|BDNF_uc009yjg.2_Missense_Mutation_p.Q29H|BDNF_uc009yje.2_Missense_Mutation_p.Q111H|BDNF_uc009yjf.2_Missense_Mutation_p.Q58H|BDNF_uc001mrv.2_Missense_Mutation_p.Q29H|BDNF_uc001mrw.3_Missense_Mutation_p.Q29H|BDNF_uc001mrx.2_Missense_Mutation_p.Q29H|BDNF_uc001mry.3_Missense_Mutation_p.Q29H|BDNF_uc001mrz.3_Missense_Mutation_p.Q29H|BDNF_uc001msa.2_Missense_Mutation_p.Q37H	NM_001143816	NP_001137288	P23560	BDNF_HUMAN	brain-derived neurotrophic factor isoform a	29						extracellular region	growth factor activity				0						CCAAGCCACCTTGTCCTCGGA	0.512												
OR5M3	219482	broad.mit.edu	37	11	56237885	56237885	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr11:56237885A>G	uc010rjk.1	-	1	89	c.89T>C	c.(88-90)CTT>CCT	p.L30P		NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M,	30	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					GTAGACCACAAGAAAGATGAT	0.438												
TNKS1BP1	85456	broad.mit.edu	37	11	57068505	57068505	+	Missense_Mutation	SNP	C	C	T	rs144895600	byFrequency	TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr11:57068505C>T	uc001njr.2	-	9	5294	c.4982G>A	c.(4981-4983)CGC>CAC	p.R1661H	TNKS1BP1_uc001njp.2_Missense_Mutation_p.R233H|TNKS1BP1_uc001njq.2_Missense_Mutation_p.R234H|TNKS1BP1_uc001njs.2_Missense_Mutation_p.R1661H	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	1661	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)				ATTCCGGGGGCGCAGCTTGGC	0.577												
PELI3	246330	broad.mit.edu	37	11	66236332	66236332	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr11:66236332G>A	uc001oic.3	+	3	345	c.181G>A	c.(181-183)GAG>AAG	p.E61K	PELI3_uc001oib.2_Missense_Mutation_p.E61K|PELI3_uc001oid.3_Intron|PELI3_uc001oie.3_Intron	NM_145065	NP_659502	Q8N2H9	PELI3_HUMAN	pellino 3 alpha isoform 1	61						cytosol	protein binding			ovary(1)	1						tgaggaaaccgaggctcagag	0												
C11orf51	25906	broad.mit.edu	37	11	71820961	71820961	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr11:71820961C>T	uc001orw.2	-	6	554	c.332G>A	c.(331-333)GGC>GAC	p.G111D	LRTOMT_uc010rqv.1_3'UTR|LRTOMT_uc010rqw.1_3'UTR|LRTOMT_uc001ors.3_3'UTR|C11orf51_uc009ytc.1_Intron|C11orf51_uc001orv.2_Missense_Mutation_p.G115D	NM_014042	NP_054761	P60006	CK051_HUMAN	hypothetical protein LOC25906	111	Asp-rich.					intracellular					0						CTGTTCGTTGCCTTCCATGTC	0.622												
C2CD3	26005	broad.mit.edu	37	11	73829385	73829385	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr11:73829385C>T	uc001ouu.2	-	9	1635	c.1408G>A	c.(1408-1410)GAT>AAT	p.D470N	C2CD3_uc001ouv.2_Missense_Mutation_p.D470N	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	470						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					GGGACGATATCATCCTCTTCA	0.428												
FAT3	120114	broad.mit.edu	37	11	92086977	92086977	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr11:92086977C>T	uc001pdj.3	+	1	1716	c.1699C>T	c.(1699-1701)CGA>TGA	p.R567*		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	567	Cadherin 5.|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)				TGTGACTATTCGAATAGGAAA	0.438										TCGA Ovarian(4;0.039)		
GNB3	2784	broad.mit.edu	37	12	6953130	6953130	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr12:6953130C>G	uc001qrd.2	+	9	1092	c.687C>G	c.(685-687)ATC>ATG	p.I229M	GNB3_uc001qrc.2_Missense_Mutation_p.I185M|GNB3_uc009zfe.2_Missense_Mutation_p.I228M	NM_002075	NP_002066	P16520	GBB3_HUMAN	guanine nucleotide-binding protein, beta-3	229	WD 5.				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity				0						AGTCGGACATCAACGCCATCT	0.582												
PZP	5858	broad.mit.edu	37	12	9315222	9315222	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr12:9315222T>G	uc001qvl.2	-	22	2788	c.2759A>C	c.(2758-2760)AAG>ACG	p.K920T	PZP_uc009zgl.2_Missense_Mutation_p.K706T|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Intron	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						ACTGAAAGTCTTTTCTTGCTC	0.393												
SLC2A13	114134	broad.mit.edu	37	12	40223997	40223997	+	Silent	SNP	G	G	A			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr12:40223997G>A	uc010skm.1	-	7	1404	c.1353C>T	c.(1351-1353)TGC>TGT	p.C451C	C12orf40_uc009zjv.1_Intron|SLC2A13_uc001rme.1_Silent_p.C98C	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose	451	Extracellular (Potential).					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			ovary(1)	1		Lung NSC(34;0.105)|all_lung(34;0.123)				AGCAGAAACCGCAGTCTGGAT	0.423										HNSCC(50;0.14)		
LIN7A	8825	broad.mit.edu	37	12	81242079	81242079	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr12:81242079G>A	uc001szj.1	-	3	417	c.224C>T	c.(223-225)ACG>ATG	p.T75M	LIN7A_uc001szk.1_RNA	NM_004664	NP_004655	O14910	LIN7A_HUMAN	lin-7 homolog A	75	L27.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			ovary(1)|skin(1)	2						AACAGTTATCGTTTCATGCAT	0.323												
SBNO1	55206	broad.mit.edu	37	12	123810084	123810084	+	Silent	SNP	G	G	A			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr12:123810084G>A	uc010tap.1	-	14	1938	c.1938C>T	c.(1936-1938)GGC>GGT	p.G646G	SBNO1_uc010tao.1_Silent_p.G645G|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Silent_p.G646G|SBNO1_uc001ueu.2_Silent_p.G645G|SBNO1_uc001uev.2_Silent_p.G644G|SBNO1_uc009zxy.1_Silent_p.G611G	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	646							ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ATTCTCCCCCGCCCTCTTCCA	0.338												
DHX37	57647	broad.mit.edu	37	12	125473527	125473527	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr12:125473527C>G	uc001ugy.2	-	1	141	c.42G>C	c.(40-42)CAG>CAC	p.Q14H		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	14							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GGCCCGCCTGCTGGCGCCCCT	0.706												
MIA2	117153	broad.mit.edu	37	14	39716682	39716682	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr14:39716682C>T	uc001wux.2	+	4	1098	c.904C>T	c.(904-906)CCC>TCC	p.P302S	MIA2_uc010amy.1_Missense_Mutation_p.P233S	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	302						extracellular region				ovary(1)|breast(1)	2	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		AGAGCACATTCCCAAACCTCA	0.408												
CASC5	57082	broad.mit.edu	37	15	40914809	40914809	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr15:40914809G>C	uc010bbs.1	+	11	2586	c.2425G>C	c.(2425-2427)GGT>CGT	p.G809R	CASC5_uc010ucq.1_Missense_Mutation_p.G633R|CASC5_uc001zme.2_Missense_Mutation_p.G783R|CASC5_uc010bbt.1_Missense_Mutation_p.G783R	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	809					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		ACAAGAACTTGGTAAAACTAA	0.363												
C15orf27	123591	broad.mit.edu	37	15	76467994	76467994	+	Silent	SNP	G	G	A			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr15:76467994G>A	uc002bbq.2	+	8	902	c.747G>A	c.(745-747)ACG>ACA	p.T249T	C15orf27_uc010bkp.2_Silent_p.T65T|C15orf27_uc002bbr.2_Silent_p.T65T	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	hypothetical protein LOC123591	249	Potential.					integral to membrane					0						AGAGGCTGACGCAGATCTGTC	0.512												
WDR93	56964	broad.mit.edu	37	15	90258251	90258251	+	Silent	SNP	G	G	A	rs143108236		TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr15:90258251G>A	uc002boj.2	+	6	782	c.681G>A	c.(679-681)AAG>AAA	p.K227K	WDR93_uc010bnr.2_Silent_p.K227K	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	227					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			ovary(2)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			AATTGCCCAAGGAGACTTGGC	0.458												
LUC7L	55692	broad.mit.edu	37	16	239282	239282	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr16:239282C>T	uc002cgc.1	-	10	1142	c.1031G>A	c.(1030-1032)CGA>CAA	p.R344Q	LUC7L_uc002cga.1_3'UTR|LUC7L_uc002cgd.1_RNA|LUC7L_uc002cge.1_3'UTR|LUC7L_uc002cgb.1_Missense_Mutation_p.R258Q	NM_201412	NP_958815	Q9NQ29	LUC7L_HUMAN	LUC7-like isoform b	344	Arg/Ser-rich.						metal ion binding			central_nervous_system(1)	1		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CGGGGGCCCTCGCTCGCTCCG	0.657												
RNF40	9810	broad.mit.edu	37	16	30779227	30779227	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr16:30779227G>A	uc002dzq.2	+	12	1565	c.1442G>A	c.(1441-1443)CGT>CAT	p.R481H	RNF40_uc010caa.2_Missense_Mutation_p.R481H|RNF40_uc010cab.2_Missense_Mutation_p.R381H|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Missense_Mutation_p.R481H|RNF40_uc010vfb.1_Missense_Mutation_p.R173H|RNF40_uc010vfc.1_5'Flank	NM_014771	NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40	481	Potential.				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)	1			Colorectal(24;0.198)			CCCATCAACCGTGAGATGCGC	0.532												
GPR56	9289	broad.mit.edu	37	16	57685210	57685210	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr16:57685210C>T	uc002emb.2	+	4	455	c.163C>T	c.(163-165)CGC>TGC	p.R55C	GPR56_uc002elz.1_Intron|GPR56_uc002ema.1_5'UTR|GPR56_uc002emc.2_Missense_Mutation_p.R55C|GPR56_uc002emf.2_Missense_Mutation_p.R55C|GPR56_uc010vhs.1_Missense_Mutation_p.R55C|GPR56_uc002emd.2_Missense_Mutation_p.R55C|GPR56_uc002eme.2_Missense_Mutation_p.R55C|GPR56_uc010vht.1_Missense_Mutation_p.R60C|GPR56_uc002emg.3_Missense_Mutation_p.R55C|GPR56_uc010vhu.1_5'UTR	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56 isoform a	55	Extracellular (Potential).				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity				0						ACCAGACCTGCGCATCTCCAT	0.627												
TP53	7157	broad.mit.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr17:7578403C>A	uc002gim.2	-	5	721	c.527G>T	c.(526-528)TGC>TTC	p.C176F	TP53_uc002gig.1_Missense_Mutation_p.C176F|TP53_uc002gih.2_Missense_Mutation_p.C176F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C44F|TP53_uc010cng.1_Missense_Mutation_p.C44F|TP53_uc002gii.1_Missense_Mutation_p.C44F|TP53_uc010cnh.1_Missense_Mutation_p.C176F|TP53_uc010cni.1_Missense_Mutation_p.C176F|TP53_uc002gij.2_Missense_Mutation_p.C176F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C83F|TP53_uc002gio.2_Missense_Mutation_p.C44F|TP53_uc010vug.1_Missense_Mutation_p.C137F	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	176	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	CP -> FS (in a sporadic cancer; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C176F(102)|p.C176Y(56)|p.C176S(19)|p.C176W(11)|p.C176R(8)|p.C176fs*71(7)|p.0?(7)|p.C176*(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176G(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.C44Y(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.C83Y(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C176fs*6(1)|p.R174fs*3(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGTGGGGGCAGCGCCTCAC	0.652		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
GAS2L2	246176	broad.mit.edu	37	17	34072128	34072128	+	Silent	SNP	G	G	A			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr17:34072128G>A	uc002hjv.1	-	6	2416	c.2388C>T	c.(2386-2388)CCC>CCT	p.P796P		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	796					cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCAGTGGCCTGGGGATTCGTG	0.642												
KRTAP9-8	83901	broad.mit.edu	37	17	39394378	39394378	+	Silent	SNP	C	C	G			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr17:39394378C>G	uc002hwh.3	+	1	109	c.75C>G	c.(73-75)ACC>ACG	p.T25T	KRTAP9-9_uc010wfq.1_Intron	NM_031963	NP_114169	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9.8	25	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament				ovary(1)	1		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCACTGTGACCACCTGCAGCA	0.622												
STAP2	55620	broad.mit.edu	37	19	4325405	4325405	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr19:4325405C>A	uc002mab.2	-	10	1064	c.967G>T	c.(967-969)GAG>TAG	p.E323*	STAP2_uc002mac.2_Nonsense_Mutation_p.E323*|STAP2_uc002mad.2_Nonsense_Mutation_p.E216*	NM_001013841	NP_001013863	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	323	Pro-rich.					cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTTGGTTCTCATAGTCAACA	0.562												
UHRF1	29128	broad.mit.edu	37	19	4947120	4947120	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr19:4947120C>G	uc002mbo.2	+	11	1582	c.1414C>G	c.(1414-1416)CAT>GAT	p.H472D	UHRF1_uc010xik.1_RNA|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Missense_Mutation_p.H485D	NM_001048201	NP_001041666	Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains	472	YDG.|Methyl-CpG binding and interaction with HDAC1.				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GTTTCAGGACCATGGGAATTT	0.433												
ZNF358	140467	broad.mit.edu	37	19	7585158	7585158	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr19:7585158G>A	uc002mgn.2	+	2	1200	c.1030G>A	c.(1030-1032)GAG>AAG	p.E344K	MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.2_5'Flank|MCOLN1_uc002mgp.2_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	zinc finger protein 358	344					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						CCACACGGGCGAGCGGCCCTA	0.692												
GTPBP3	84705	broad.mit.edu	37	19	17450362	17450362	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr19:17450362G>A	uc010eas.2	+	7	993	c.928G>A	c.(928-930)GGC>AGC	p.G310S	GTPBP3_uc010xpo.1_Missense_Mutation_p.G332S|GTPBP3_uc010ear.1_RNA|GTPBP3_uc002ngh.3_Missense_Mutation_p.G310S|GTPBP3_uc002ngg.3_Missense_Mutation_p.G342S|GTPBP3_uc002ngi.3_5'UTR	NM_032620	NP_116009	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial) isoform V	310					tRNA modification	mitochondrion	GTP binding|GTPase activity			skin(1)	1						GTTGCGGGAGGGCGTGGGGCC	0.716												
ZNF429	353088	broad.mit.edu	37	19	21719186	21719186	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr19:21719186T>G	uc002nqd.1	+	4	468	c.331T>G	c.(331-333)TTA>GTA	p.L111V	ZNF429_uc010ecu.1_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	zinc finger protein 429	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						ACATGAGAACTTACAATTAAG	0.358												
PPP5C	5536	broad.mit.edu	37	19	46857240	46857240	+	Silent	SNP	C	C	T			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr19:46857240C>T	uc002pem.2	+	2	417	c.357C>T	c.(355-357)TAC>TAT	p.Y119Y	PPP5C_uc010xya.1_Translation_Start_Site|PPP5C_uc002pen.2_Silent_p.Y119Y	NM_006247	NP_006238	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	119	TPR 3.				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			lung(1)|pancreas(1)	2		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		TGCGAGACTACGAGACGGTGA	0.647												
SYNGR4	23546	broad.mit.edu	37	19	48878949	48878949	+	Silent	SNP	C	C	T			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr19:48878949C>T	uc002piz.2	+	4	656	c.411C>T	c.(409-411)CTC>CTT	p.L137L		NM_012451	NP_036583	O95473	SNG4_HUMAN	synaptogyrin 4	137	MARVEL.					integral to membrane					0		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		AAGAGTTCCTCCTGGGGAGCA	0.602												
SYNGR4	23546	broad.mit.edu	37	19	48879451	48879451	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr19:48879451C>T	uc002piz.2	+	5	826	c.581C>T	c.(580-582)TCT>TTT	p.S194F		NM_012451	NP_036583	O95473	SNG4_HUMAN	synaptogyrin 4	194						integral to membrane					0		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		CCCTTGCCCTCTGCCAACAGC	0.617												
PXDN	7837	broad.mit.edu	37	2	1648500	1648500	+	Silent	SNP	G	G	A			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr2:1648500G>A	uc002qxa.2	-	18	3697	c.3633C>T	c.(3631-3633)ATC>ATT	p.I1211I		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1211					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GAAACAGGTCGATGTTGAGTG	0.498												
APOB	338	broad.mit.edu	37	2	21226009	21226009	+	Silent	SNP	G	G	A			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr2:21226009G>A	uc002red.2	-	29	12413	c.12285C>T	c.(12283-12285)CTC>CTT	p.L4095L		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	4095					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	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)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTCTCAGGGTGAGCCCTGTGT	0.478												
C2orf44	80304	broad.mit.edu	37	2	24253804	24253804	+	Nonstop_Mutation	SNP	C	C	G			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr2:24253804C>G	uc002rep.2	-	4	2296	c.2165G>C	c.(2164-2166)TGA>TCA	p.*722S	C2orf44_uc010eya.2_3'UTR	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN	hypothetical protein LOC80304 isoform 1	722							protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCAGATATCAAGCCATGCC	0.493												
PRPF40A	55660	broad.mit.edu	37	2	153573873	153573873	+	Silent	SNP	G	G	T			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr2:153573873G>T	uc002tyi.2	-	1	49	c.36C>A	c.(34-36)CTC>CTA	p.L12L	ARL6IP6_uc002tyn.2_5'Flank|ARL6IP6_uc002tym.2_5'Flank|ARL6IP6_uc002tyo.2_5'Flank|PRPF40A_uc002tyh.3_Silent_p.L27L|PRPF40A_uc010zcd.1_Silent_p.L27L|PRPF40A_uc002tyj.2_5'UTR|PRPF40A_uc002tyl.1_Silent_p.L12L	NM_017892	NP_060362	O75400	PR40A_HUMAN	formin binding protein 3	12					mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding				0						CACTCACCATGAGGCCTCCAC	0.647												
TTN	7273	broad.mit.edu	37	2	179449931	179449931	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr2:179449931C>G	uc010zfg.1	-	258	57060	c.56836G>C	c.(56836-56838)GCA>CCA	p.A18946P	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A12641P|TTN_uc010zfi.1_Missense_Mutation_p.A12574P|TTN_uc010zfj.1_Missense_Mutation_p.A12449P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19873							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTATGCACTGCCAGGTGGCTG	0.448												
TTN	7273	broad.mit.edu	37	2	179485111	179485111	+	Silent	SNP	T	T	C			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr2:179485111T>C	uc010zfg.1	-	197	38657	c.38433A>G	c.(38431-38433)AAA>AAG	p.K12811K	TTN_uc010zfh.1_Silent_p.K6506K|TTN_uc010zfi.1_Silent_p.K6439K|TTN_uc010zfj.1_Silent_p.K6314K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13738							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCAACAGATTTATCTTGTC	0.443												
TTN	7273	broad.mit.edu	37	2	179595319	179595319	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr2:179595319G>T	uc010zfg.1	-	58	14433	c.14209C>A	c.(14209-14211)CTG>ATG	p.L4737M	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L1398M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5664							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTACCTTCCAGCTGGCTGATT	0.428												
TTN	7273	broad.mit.edu	37	2	179632580	179632580	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr2:179632580T>G	uc010zfg.1	-	40	9601	c.9377A>C	c.(9376-9378)AAG>ACG	p.K3126T	TTN_uc010zfh.1_Missense_Mutation_p.K3080T|TTN_uc010zfi.1_Missense_Mutation_p.K3080T|TTN_uc010zfj.1_Missense_Mutation_p.K3080T|TTN_uc002unb.2_Missense_Mutation_p.K3126T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3126							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTGTGTACTTCCCAGCATC	0.448												
USP37	57695	broad.mit.edu	37	2	219339499	219339499	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr2:219339499C>G	uc002vie.2	-	20	2606	c.2153G>C	c.(2152-2154)AGA>ACA	p.R718T	USP37_uc010fvs.1_Missense_Mutation_p.R718T|USP37_uc010zkf.1_Missense_Mutation_p.R718T|USP37_uc002vif.2_Missense_Mutation_p.R718T|USP37_uc002vig.2_Missense_Mutation_p.R624T	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	718	UIM 1.				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(3)|ovary(1)|prostate(1)	5		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TGAAGCATCTCTCTTACTTAT	0.418												
PAX3	5077	broad.mit.edu	37	2	223161818	223161818	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr2:223161818A>G	uc010fwo.2	-	2	566	c.200T>C	c.(199-201)ATC>ACC	p.I67T	PAX3_uc002vmt.1_Missense_Mutation_p.I67T|PAX3_uc002vmy.1_Missense_Mutation_p.I67T|PAX3_uc002vmv.1_Missense_Mutation_p.I67T|PAX3_uc002vmw.1_Missense_Mutation_p.I67T|PAX3_uc002vmx.1_Missense_Mutation_p.I67T|PAX3_uc002vmz.1_Missense_Mutation_p.I67T|PAX3_uc002vna.1_Missense_Mutation_p.I67T|CCDC140_uc002vnb.1_5'Flank	NM_181457	NP_852122	P23760	PAX3_HUMAN	paired box 3 isoform PAX3	67	Paired.		Missing (in WS1).		apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)|skin(1)	766		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGGGCCGGATGCCGTGGTG	0.657			T	FOXO1A|NCOA1	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome					
CXCR7	57007	broad.mit.edu	37	2	237489897	237489897	+	Silent	SNP	C	C	G			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr2:237489897C>G	uc010fyq.2	+	3	1019	c.789C>G	c.(787-789)GTC>GTG	p.V263V	CXCR7_uc002vwd.2_Silent_p.V263V	NM_020311	NP_064707	P25106	CXCR7_HUMAN	chemokine orphan receptor 1	263	Helical; Name=6; (Potential).				interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		TCTTCCTTGTCTGCTGGCTGC	0.602												
PER2	8864	broad.mit.edu	37	2	239161846	239161846	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr2:239161846C>G	uc002vyc.2	-	19	3055	c.2818G>C	c.(2818-2820)GAG>CAG	p.E940Q	PER2_uc010znv.1_Missense_Mutation_p.E940Q	NM_022817	NP_073728	O15055	PER2_HUMAN	period 2	940	Pro-rich.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			upper_aerodigestive_tract(1)|breast(1)	2		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GAGGCCATCTCGGATGTGAGT	0.642												
SGK2	10110	broad.mit.edu	37	20	42199271	42199271	+	Silent	SNP	G	G	A			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr20:42199271G>A	uc002xkv.2	+	6	774	c.555G>A	c.(553-555)CTG>CTA	p.L185L	SGK2_uc002xkt.2_RNA|SGK2_uc002xkr.2_Silent_p.L125L|SGK2_uc010ggm.2_Silent_p.L125L|SGK2_uc002xks.2_Silent_p.L124L|SGK2_uc002xku.2_Silent_p.L125L	NM_016276	NP_057360	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2 isoform	185	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			lung(3)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	6		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCTTCCACCTGCAGCGGGAGC	0.642												
CSE1L	1434	broad.mit.edu	37	20	47712900	47712900	+	Silent	SNP	G	G	A			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr20:47712900G>A	uc002xty.2	+	25	2975	c.2841G>A	c.(2839-2841)GTG>GTA	p.V947V	CSE1L_uc010zyg.1_Silent_p.V730V|CSE1L_uc010ghx.2_Silent_p.V891V|CSE1L_uc010ghy.2_Silent_p.V568V|CSE1L_uc010zyh.1_3'UTR	NM_001316	NP_001307	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like protein	947					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			large_intestine(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			CATCAATGGTGAGCACCAGCC	0.502												
NCAM2	4685	broad.mit.edu	37	21	22696742	22696742	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr21:22696742C>T	uc002yld.1	+	6	908	c.659C>T	c.(658-660)GCC>GTC	p.A220V	NCAM2_uc011acb.1_Missense_Mutation_p.A78V|NCAM2_uc011acc.1_Missense_Mutation_p.A245V	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	220	Ig-like C2-type 3.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TCTTTTAATGCCACAGCAGAG	0.483												
TIAM1	7074	broad.mit.edu	37	21	32624209	32624209	+	Silent	SNP	C	C	T			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr21:32624209C>T	uc002yow.1	-	6	1732	c.1260G>A	c.(1258-1260)CCG>CCA	p.P420P	TIAM1_uc011adk.1_Silent_p.P420P|TIAM1_uc011adl.1_Silent_p.P420P|TIAM1_uc002yox.1_Silent_p.P28P	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	420					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						CCGACTGGCCCGGAGAGCTCA	0.672												
CCT8L2	150160	broad.mit.edu	37	22	17072615	17072615	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr22:17072615G>T	uc002zlp.1	-	1	1086	c.826C>A	c.(826-828)CAA>AAA	p.Q276K		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	276					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TCTAGTAATTGATCGCTTCCT	0.517												
SEPT5	5413	broad.mit.edu	37	22	19709185	19709185	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr22:19709185T>C	uc002zpv.1	+	9	865	c.740T>C	c.(739-741)ATA>ACA	p.I247T	SEPT5_uc002zpw.1_RNA|SEPT5_uc002zpx.1_RNA|SEPT5_uc002zpy.1_5'UTR|SEPT5_uc002zpz.1_5'Flank	NM_002688	NP_002679	Q99719	SEPT5_HUMAN	septin 5	247					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)	1	Colorectal(54;0.0993)					TTCGCCGTTATAGGCAGCAAC	0.627												
ZCWPW2	152098	broad.mit.edu	37	3	28562499	28562499	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr3:28562499A>C	uc003ceh.2	+	9	969	c.801A>C	c.(799-801)GAA>GAC	p.E267D	ZCWPW2_uc003cei.2_Missense_Mutation_p.E267D|ZCWPW2_uc010hfo.2_Missense_Mutation_p.E72D	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	267							zinc ion binding			ovary(2)	2						GTGAGACGGAAGTTTTACTAA	0.378												
C3orf39	84892	broad.mit.edu	37	3	43121515	43121515	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr3:43121515C>T	uc003cmq.1	-	2	1550	c.1409G>A	c.(1408-1410)GGA>GAA	p.G470E	C3orf39_uc003cmr.1_Missense_Mutation_p.G470E	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN	glycosyltransferase precursor	470						extracellular region	transferase activity, transferring glycosyl groups			ovary(1)|skin(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)		CTTCCGTGGTCCTGGCCGGCC	0.642												
PARP3	10039	broad.mit.edu	37	3	51981840	51981840	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr3:51981840C>T	uc003dby.2	+	10	1732	c.1361C>T	c.(1360-1362)ACG>ATG	p.T454M	PARP3_uc003dbz.2_Missense_Mutation_p.T461M	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	454	PARP catalytic.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CATATCAACACGGACAACCCC	0.587												
VGLL3	389136	broad.mit.edu	37	3	86996204	86996204	+	Silent	SNP	T	T	C			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr3:86996204T>C	uc003dqn.2	-	4	1315	c.951A>G	c.(949-951)CAA>CAG	p.Q317Q		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	colon carcinoma related protein	317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TACTCTTGTCTTGATGCTGTA	0.378												
COL8A1	1295	broad.mit.edu	37	3	99514979	99514979	+	Silent	SNP	A	A	G			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr3:99514979A>G	uc003dtg.1	+	5	2479	c.2234A>G	c.(2233-2235)TAA>TGA	p.*745*	COL8A1_uc003dth.1_Silent_p.*745*|COL8A1_uc003dti.1_Silent_p.*746*	NM_001850	NP_001841	P27658	CO8A1_HUMAN	alpha 1 type VIII collagen precursor	745					angiogenesis|cell adhesion	basement membrane|collagen type VIII					0						TATCCCATGTAAAAACAAAAA	0.373												
GRAMD1C	54762	broad.mit.edu	37	3	113595064	113595064	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr3:113595064G>T	uc003eaq.3	+	5	492	c.416G>T	c.(415-417)CGA>CTA	p.R139L	GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_Intron	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	139						integral to membrane				ovary(2)|skin(1)	3						AAAACTGCTCGACTCATCCCA	0.303												
TF	7018	broad.mit.edu	37	3	133494371	133494371	+	Silent	SNP	G	G	A			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr3:133494371G>A	uc003epu.1	+	20	3510	c.1782G>A	c.(1780-1782)GCG>GCA	p.A594A	TF_uc011blt.1_Silent_p.A467A|TF_uc003epw.1_Intron|TF_uc003epv.1_Silent_p.A594A	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	594	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			ovary(1)|skin(1)	2					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	AGGAGTATGCGAACTGCCACC	0.498												
CEP63	80254	broad.mit.edu	37	3	134226057	134226057	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr3:134226057G>A	uc003eqo.1	+	4	600	c.151G>A	c.(151-153)GAA>AAA	p.E51K	CEP63_uc003eql.1_Missense_Mutation_p.E51K|CEP63_uc003eqm.2_Missense_Mutation_p.E51K|CEP63_uc003eqn.1_Missense_Mutation_p.E51K	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	centrosomal protein 63 isoform a	51	Potential.				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			ovary(1)	1						ACATGCTCTAGAAACTTGCTT	0.383												
SGEF	26084	broad.mit.edu	37	3	153847444	153847444	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr3:153847444A>C	uc011bog.1	+	4	1416	c.1205A>C	c.(1204-1206)AAG>ACG	p.K402T	SGEF_uc011boh.1_Missense_Mutation_p.K402T	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	Src homology 3 domain-containing guanine	402					regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AAAGAACAGAAGTCAGATGAA	0.413												
PLD1	5337	broad.mit.edu	37	3	171455827	171455827	+	Silent	SNP	G	G	A	rs145738077	byFrequency	TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr3:171455827G>A	uc003fhs.2	-	2	131	c.15C>T	c.(13-15)AAC>AAT	p.N5N	PLD1_uc003fht.2_Silent_p.N5N	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	5					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CCCGTGGCTCGTTTTTCAGTG	0.413												
WDFY3	23001	broad.mit.edu	37	4	85661406	85661406	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr4:85661406G>A	uc003hpd.2	-	39	6806	c.6398C>T	c.(6397-6399)CCT>CTT	p.P2133L		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2133						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ATGGTTCCCAGGTCCCAGGAT	0.448												
PCDH10	57575	broad.mit.edu	37	4	134071772	134071772	+	Silent	SNP	C	C	T			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr4:134071772C>T	uc003iha.2	+	1	1303	c.477C>T	c.(475-477)TAC>TAT	p.Y159Y	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.Y159Y	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	159	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		TGCGCGACTACGAGATCACCC	0.622												
USP38	84640	broad.mit.edu	37	4	144106705	144106705	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr4:144106705C>G	uc003ijb.2	+	1	636	c.102C>G	c.(100-102)GAC>GAG	p.D34E	USP38_uc003ija.3_Missense_Mutation_p.D34E|USP38_uc003ijc.2_RNA	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	34					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_hematologic(180;0.158)					ACTGGCTAGACGAGGCGCAGT	0.647												
GZMK	3003	broad.mit.edu	37	5	54327247	54327247	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr5:54327247A>C	uc003jpl.1	+	4	463	c.419A>C	c.(418-420)AAA>ACA	p.K140T		NM_002104	NP_002095	P49863	GRAK_HUMAN	granzyme K precursor	140	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				ATAAGATCCAAAACCTCTCTT	0.423												
APC	324	broad.mit.edu	37	5	112111436	112111436	+	Splice_Site	SNP	T	T	G			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr5:112111436T>G	uc010jby.2	+	5	911	c.531_splice	c.e5+2	p.N177_splice	APC_uc011cvt.1_Splice_Site_p.N187_splice|APC_uc003kpz.3_Splice_Site_p.N177_splice|APC_uc003kpy.3_Splice_Site_p.N177_splice|APC_uc010jbz.2_Splice_Site	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli						canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ACTGAAAATGTAAGTAACTTG	0.294		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)		
PCDHA12	56137	broad.mit.edu	37	5	140257073	140257073	+	Silent	SNP	C	C	T			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr5:140257073C>T	uc003lic.2	+	1	2143	c.2016C>T	c.(2014-2016)AAC>AAT	p.N672N	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_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.N672N	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	672	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGAGAACGGCCAGGCCC	0.667												
G3BP1	10146	broad.mit.edu	37	5	151179475	151179475	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr5:151179475C>G	uc003lun.2	+	9	1040	c.869C>G	c.(868-870)TCT>TGT	p.S290C	G3BP1_uc003lum.2_Missense_Mutation_p.S290C|G3BP1_uc011dcu.1_Missense_Mutation_p.S108C|G3BP1_uc010jhz.2_Missense_Mutation_p.S108C|G3BP1_uc003luq.2_Translation_Start_Site	NM_005754	NP_005745	Q13283	G3BP1_HUMAN	Ras-GTPase-activating protein SH3-domain-binding	290					Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			skin(3)|ovary(1)	4		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			AAGCCTGAATCTCAGATTCCA	0.413												
FAM50B	26240	broad.mit.edu	37	6	3850759	3850759	+	Silent	SNP	C	C	T			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr6:3850759C>T	uc003mvu.2	+	2	826	c.714C>T	c.(712-714)ATC>ATT	p.I238I		NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	238						nucleus				pancreas(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)				TCATGTTCATCAAGGAGGACC	0.627												
F13A1	2162	broad.mit.edu	37	6	6318886	6318886	+	Silent	SNP	A	A	C			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr6:6318886A>C	uc003mwv.2	-	2	135	c.12T>G	c.(10-12)ACT>ACG	p.T4T	F13A1_uc011dib.1_Silent_p.T4T	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	4					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CGGTCCTGGAAGTTTCTGACA	0.453												
HIST1H4E	8367	broad.mit.edu	37	6	26204976	26204976	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr6:26204976T>C	uc003ngy.2	+	1	104	c.104T>C	c.(103-105)ATC>ACC	p.I35T		NM_003545	NP_003536	P62805	H4_HUMAN	histone cluster 1, H4e	35					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1		all_hematologic(11;0.196)				AAGCCTGCCATCCGGCGCCTT	0.577												
IMPG1	3617	broad.mit.edu	37	6	76751661	76751661	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr6:76751661C>T	uc003pik.1	-	2	380	c.250G>A	c.(250-252)GAA>AAA	p.E84K		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	84					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTCATGGATTCCTGTGGACAG	0.383												
LAMA4	3910	broad.mit.edu	37	6	112454672	112454672	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr6:112454672A>C	uc003pvu.2	-	27	3884	c.3575T>G	c.(3574-3576)CTT>CGT	p.L1192R	LAMA4_uc003pvv.2_Missense_Mutation_p.L1185R|LAMA4_uc003pvt.2_Missense_Mutation_p.L1185R	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	1192	Laminin G-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ATCTAGGGGAAGGTGTGCTCT	0.448												
TMEM200A	114801	broad.mit.edu	37	6	130762633	130762633	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr6:130762633T>A	uc003qca.2	+	3	1937	c.1066T>A	c.(1066-1068)TCG>ACG	p.S356T	TMEM200A_uc010kfh.2_Missense_Mutation_p.S356T|TMEM200A_uc010kfi.2_Missense_Mutation_p.S356T|TMEM200A_uc003qcb.2_Missense_Mutation_p.S356T	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	356	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GGAGTCGTTGTCGAGTCAGTA	0.527												
SYNE1	23345	broad.mit.edu	37	6	152804233	152804233	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr6:152804233A>C	uc010kiw.2	-	14	1939	c.1337T>G	c.(1336-1338)CTT>CGT	p.L446R	SYNE1_uc003qot.3_Missense_Mutation_p.L453R|SYNE1_uc003qou.3_Missense_Mutation_p.L446R|SYNE1_uc010kjb.1_Missense_Mutation_p.L429R|SYNE1_uc003qpa.1_Missense_Mutation_p.L446R|SYNE1_uc003qox.1_5'UTR	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	446	Potential.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATGTTGCTCAAGTTTCCGTTG	0.507										HNSCC(10;0.0054)		
THBS2	7058	broad.mit.edu	37	6	169623561	169623561	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr6:169623561C>T	uc003qwt.2	-	19	3031	c.2783G>A	c.(2782-2784)CGG>CAG	p.R928Q		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	928	TSP type-3 8.|Cell attachment site (Potential).				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AATATCACCCCGTCCATCACC	0.383												
POM121L12	285877	broad.mit.edu	37	7	53104250	53104250	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr7:53104250T>C	uc003tpz.2	+	1	902	c.886T>C	c.(886-888)TCC>CCC	p.S296P		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	296											0						CCCCTTTGGCTCCTAAGAATC	0.602												
MDH2	4191	broad.mit.edu	37	7	75687381	75687381	+	Silent	SNP	C	C	T			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr7:75687381C>T	uc003ueo.2	+	4	500	c.414C>T	c.(412-414)TGC>TGT	p.C138C	MDH2_uc003uep.2_Silent_p.C31C|MDH2_uc011kgh.1_Silent_p.C138C	NM_005918	NP_005909	P40926	MDHM_HUMAN	mitochondrial malate dehydrogenase precursor	138					gluconeogenesis|malate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus|plasma membrane	binding|L-malate dehydrogenase activity			ovary(1)|central_nervous_system(1)|skin(1)	3					NADH(DB00157)	CCATGATCTGCGTCATTGCCA	0.587												
PCLO	27445	broad.mit.edu	37	7	82544694	82544694	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr7:82544694A>C	uc003uhx.2	-	7	12897	c.12608T>G	c.(12607-12609)TTT>TGT	p.F4203C	PCLO_uc003uhv.2_Missense_Mutation_p.F4203C|PCLO_uc010lec.2_Missense_Mutation_p.F1168C	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4134					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						AATAGGTGAAAATTTTGACAT	0.383												
COL1A2	1278	broad.mit.edu	37	7	94055358	94055358	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr7:94055358C>G	uc003ung.1	+	45	3463	c.2992C>G	c.(2992-2994)CCT>GCT	p.P998A	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	998					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCCAAGAGGTCCTAGTGTATG	0.418										HNSCC(75;0.22)		
LAMB4	22798	broad.mit.edu	37	7	107704215	107704215	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr7:107704215T>C	uc010ljo.1	-	22	3136	c.3052A>G	c.(3052-3054)ACC>GCC	p.T1018A	LAMB4_uc003vey.2_Missense_Mutation_p.T1018A|LAMB4_uc010ljp.1_5'UTR	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	1018	Laminin EGF-like 10.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						CTTCTGCAGGTCTGATTGAGG	0.517												
PDIA4	9601	broad.mit.edu	37	7	148702994	148702994	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr7:148702994C>G	uc003wff.2	-	8	1565	c.1283G>C	c.(1282-1284)AGA>ACA	p.R428T		NM_004911	NP_004902	P13667	PDIA4_HUMAN	protein disulfide isomerase A4 precursor	428					cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			lung(5)|ovary(1)	6	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CTCACCAGCTCTGTAATCAAA	0.607											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RP1L1	94137	broad.mit.edu	37	8	10465067	10465067	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr8:10465067C>G	uc003wtc.2	-	4	6770	c.6541G>C	c.(6541-6543)GAG>CAG	p.E2181Q		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2181					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		TCTGGGGCCTCTACACCTTCT	0.602												
C8orf34	116328	broad.mit.edu	37	8	69552690	69552690	+	Silent	SNP	T	T	G			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr8:69552690T>G	uc010lyz.2	+	8	976	c.927T>G	c.(925-927)ACT>ACG	p.T309T	C8orf34_uc003xyb.2_Silent_p.T284T	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	309					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GCCGTCCTACTTACCCTGCTG	0.408												
CNGB3	54714	broad.mit.edu	37	8	87588309	87588309	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr8:87588309T>C	uc003ydx.2	-	18	2199	c.2153A>G	c.(2152-2154)GAT>GGT	p.D718G	CNGB3_uc010maj.2_Missense_Mutation_p.D575G	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	718	Cytoplasmic (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3						tttttgtttatcttcattttc	0.179												
SPAG1	6674	broad.mit.edu	37	8	101252666	101252666	+	Silent	SNP	A	A	C			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr8:101252666A>C	uc003yjh.1	+	18	2402	c.2316A>C	c.(2314-2316)GCA>GCC	p.A772A	SPAG1_uc003yji.1_Silent_p.A772A	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	sperm associated antigen 1	772					single fertilization	cytoplasm	GTP binding|hydrolase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GAAGACCTGCAGGGGAGGTCT	0.483												
TM7SF4	81501	broad.mit.edu	37	8	105361304	105361304	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr8:105361304T>C	uc003ylx.1	+	2	573	c.524T>C	c.(523-525)CTT>CCT	p.L175P		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	175					osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCAGTCTCTCTTTTCAGTCCC	0.473												
CSMD3	114788	broad.mit.edu	37	8	114111124	114111124	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr8:114111124C>G	uc003ynu.2	-	5	937	c.778G>C	c.(778-780)GAG>CAG	p.E260Q	CSMD3_uc003ynt.2_Missense_Mutation_p.E220Q|CSMD3_uc011lhx.1_Missense_Mutation_p.E260Q|CSMD3_uc010mcx.1_Missense_Mutation_p.E260Q	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	260	Extracellular (Potential).|CUB 2.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TTATGGTACTCATTAGGAAAA	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
EPPK1	83481	broad.mit.edu	37	8	144941839	144941839	+	Silent	SNP	G	G	A			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr8:144941839G>A	uc003zaa.1	-	1	5596	c.5583C>T	c.(5581-5583)AAC>AAT	p.N1861N		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1861						cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGACCCTGGAGTTGAACAGGT	0.547												
NFKBIL2	4796	broad.mit.edu	37	8	145666384	145666384	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr8:145666384C>G	uc011llg.1	-	8	991	c.976G>C	c.(976-978)GAC>CAC	p.D326H		NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	326	TPR 7.				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CTGGGAAAGTCTCCTGCCTTG	0.647												
FLJ46321	389763	broad.mit.edu	37	9	84609013	84609013	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr9:84609013T>G	uc004amn.2	+	4	3675	c.3628T>G	c.(3628-3630)TTG>GTG	p.L1210V		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	1210						integral to membrane					0						CCAGTTAAAGTTGGTCCAGAG	0.403												
FKTN	2218	broad.mit.edu	37	9	108358939	108358939	+	Splice_Site	SNP	G	G	A			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr9:108358939G>A	uc004bcr.2	+	4	381	c.165_splice	c.e4+1	p.W55_splice	FKTN_uc011lvx.1_Splice_Site_p.W55_splice|FKTN_uc004bcs.2_Splice_Site_p.W55_splice|FKTN_uc011lvy.1_Splice_Site_p.W55_splice|FKTN_uc010mtm.2_Splice_Site	NM_001079802	NP_001073270	O75072	FKTN_HUMAN	fukutin						muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(2)|ovary(1)	3						CACACAGTGGGTATGTAGAAT	0.318												
C9orf5	23731	broad.mit.edu	37	9	111870817	111870817	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr9:111870817C>A	uc004bdt.3	-	2	645	c.613G>T	c.(613-615)GTT>TTT	p.V205F	C9orf5_uc004bds.3_RNA|C9orf5_uc004bdr.3_Missense_Mutation_p.V205F	NM_032012	NP_114401	Q9H330	CI005_HUMAN	hypothetical protein LOC23731	205	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1		Myeloproliferative disorder(63;0.204)		OV - Ovarian serous cystadenocarcinoma(323;3.08e-05)|STAD - Stomach adenocarcinoma(157;0.0823)		TTGAATGAAACAGTCAACACA	0.353												
ODF2	4957	broad.mit.edu	37	9	131262403	131262403	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr9:131262403G>A	uc011mbd.1	+	21	2670	c.2359G>A	c.(2359-2361)GAG>AAG	p.E787K	ODF2_uc004bvb.2_Missense_Mutation_p.E763K|ODF2_uc011mbe.1_Missense_Mutation_p.E782K|ODF2_uc004bvc.2_Missense_Mutation_p.E763K|ODF2_uc004bvd.3_Missense_Mutation_p.E787K|ODF2_uc004bvh.2_Missense_Mutation_p.E193K	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2 isoform 1	787	Potential.				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			ovary(1)	1						GGAGCAGTCCGAGAGCACCAA	0.468												
ADAMTSL2	9719	broad.mit.edu	37	9	136405731	136405731	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr9:136405731C>T	uc011mdl.1	+	6	981	c.424C>T	c.(424-426)CAC>TAC	p.H142Y	ADAMTSL2_uc004cei.2_Missense_Mutation_p.H142Y	NM_001145320	NP_001138792	Q86TH1	ATL2_HUMAN	ADAMTS-like 2 precursor	142					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		TGACTATGTCCACATCTCCAG	0.582												
NLGN4X	57502	broad.mit.edu	37	X	5821801	5821801	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chrX:5821801G>T	uc010ndh.2	-	5	1419	c.918C>A	c.(916-918)TGC>TGA	p.C306*	NLGN4X_uc004crp.2_Nonsense_Mutation_p.C326*|NLGN4X_uc004crq.2_Nonsense_Mutation_p.C306*|NLGN4X_uc010ndi.2_Nonsense_Mutation_p.C343*|NLGN4X_uc004crr.2_Nonsense_Mutation_p.C306*|NLGN4X_uc010ndj.2_Nonsense_Mutation_p.C306*	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	306	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|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						CCAGCATGTTGCAGCCGACCT	0.577												
FIGF	2277	broad.mit.edu	37	X	15365304	15365304	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chrX:15365304A>G	uc004cwt.1	-	6	1429	c.920T>C	c.(919-921)TTT>TCT	p.F307S		NM_004469	NP_004460	O43915	VEGFD_HUMAN	vascular endothelial growth factor D	307	4.|4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			ovary(1)|breast(1)|central_nervous_system(1)	3	Hepatocellular(33;0.183)					GTCTGGGTGAAATAGCTTGTG	0.438												
GPR64	10149	broad.mit.edu	37	X	19024132	19024132	+	Silent	SNP	G	G	A			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chrX:19024132G>A	uc004cyx.2	-	22	1991	c.1827C>T	c.(1825-1827)TTC>TTT	p.F609F	GPR64_uc004cyy.2_Silent_p.F606F|GPR64_uc004cyz.2_Silent_p.F595F|GPR64_uc004czb.2_Silent_p.F609F|GPR64_uc004czc.2_Silent_p.F593F|GPR64_uc004czd.2_Silent_p.F585F|GPR64_uc004cze.2_Silent_p.F579F|GPR64_uc004czf.2_Silent_p.F571F|GPR64_uc004cza.2_Silent_p.F587F|GPR64_uc004cyw.2_Silent_p.F593F|GPR64_uc010nfj.2_Silent_p.F490F	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	609	GPS.|Extracellular (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)					GCAGAACGCCGAAGCTTGTTA	0.493												
DMD	1756	broad.mit.edu	37	X	31496452	31496452	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chrX:31496452A>C	uc004dda.1	-	59	8952	c.8708T>G	c.(8707-8709)CTT>CGT	p.L2903R	DMD_uc004dcq.1_Missense_Mutation_p.L174R|DMD_uc004dcr.1_Missense_Mutation_p.L443R|DMD_uc004dcs.1_Missense_Mutation_p.L443R|DMD_uc004dct.1_Missense_Mutation_p.L443R|DMD_uc004dcu.1_Missense_Mutation_p.L443R|DMD_uc004dcv.1_Missense_Mutation_p.L443R|DMD_uc004dcw.2_Missense_Mutation_p.L1559R|DMD_uc004dcx.2_Missense_Mutation_p.L1562R|DMD_uc004dcz.2_Missense_Mutation_p.L2780R|DMD_uc004dcy.1_Missense_Mutation_p.L2899R|DMD_uc004ddb.1_Missense_Mutation_p.L2895R	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2903	Spectrin 20.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTTTCGTAGAAGCCGAGTGAC	0.438												
ELMO2	63916	broad.mit.edu	37	20	45061630	45061630	+	Translation_Start_Site	DEL	T	T	-			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr20:45061630delT	uc010zxs.1	-	1	75	c.-567delA	c.(-569--565)AAATG>AATG		uc002xry.2_Intron			Q96JJ3	ELMO2_HUMAN	SubName: Full=ELMO2 protein; SubName: Full=Engulfment and cell motility 2;						apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				tacgtgtccatttaccatcaa	0.015												
OBSCN	84033	broad.mit.edu	37	1	228526004	228526004	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr1:228526004delG	uc009xez.1	+	68	17059	c.17015delG	c.(17014-17016)TGGfs	p.W5672fs	OBSCN_uc001hsn.2_Frame_Shift_Del_p.W5672fs|OBSCN_uc001hsr.1_Frame_Shift_Del_p.W300fs	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5672					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				TCACCTGAGTGGGGGGCCGCT	0.647												
CEP290	80184	broad.mit.edu	37	12	88500843	88500843	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr12:88500843delG	uc001tar.2	-	24	2860	c.2516delC	c.(2515-2517)ACAfs	p.T839fs	CEP290_uc001taq.2_5'Flank|CEP290_uc001tat.2_Frame_Shift_Del_p.T632fs	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	839	Potential.				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7						CTCTTTTATTGTTTTAGATTC	0.259												
RB1	5925	broad.mit.edu	37	13	48937043	48937046	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr13:48937043_48937046delACAA	uc001vcb.2	+	8	977_980	c.811_814delACAA	c.(811-816)ACAAGAfs	p.T271fs	RB1_uc010acs.1_RNA|RB1_uc010act.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	271_272					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(5)|p.L267fs*3(1)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGAAAATGATACAAGAATTATTGA	0.338		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)		
DNAH3	55567	broad.mit.edu	37	16	20998758	20998759	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr16:20998758_20998759insT	uc010vbe.1	-	47	6894_6895	c.6894_6895insA	c.(6892-6897)AAATGTfs	p.K2298fs	DNAH3_uc010vbd.1_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2298_2299					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		AGCCGGATACATTTTTCTACAT	0.366												
LMTK3	114783	broad.mit.edu	37	19	49001788	49001788	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr19:49001788delC	uc002pjk.2	-	12	2625	c.2625delG	c.(2623-2625)GGGfs	p.G875fs		NM_001080434	NP_001073903			lemur tyrosine kinase 3											lung(5)|central_nervous_system(1)	6		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		TCTCCCGGGGCCCCGGGAGTG	0.716												
SNRNP70	6625	broad.mit.edu	37	19	49589818	49589818	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr19:49589818delG	uc002pmk.2	+	2	586	c.147delG	c.(145-147)GAGfs	p.E49fs	SNRNP70_uc002pmh.1_RNA|SNRNP70_uc002pmi.1_Frame_Shift_Del_p.E49fs|SNRNP70_uc002pml.2_5'UTR|SNRNP70_uc002pmm.2_RNA	NM_003089	NP_003080	P08621	RU17_HUMAN	U1 small nuclear ribonucleoprotein 70 kDa	49					nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0						GAGAGTTTGAGGTGAGTTCAc	0.264												
ELMO2	63916	broad.mit.edu	37	20	45061630	45061630	+	Translation_Start_Site	DEL	T	T	-			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr20:45061630delT	uc010zxs.1	-	1	75	c.-567delA	c.(-569--565)AAATG>AATG		uc002xry.2_Intron			Q96JJ3	ELMO2_HUMAN	SubName: Full=ELMO2 protein; SubName: Full=Engulfment and cell motility 2;						apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				tacgtgtccatttaccatcaa	0.015												
BRWD1	54014	broad.mit.edu	37	21	40649222	40649223	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr21:40649222_40649223insA	uc002yxk.1	-	11	1197_1198	c.1058_1059insT	c.(1057-1059)TTGfs	p.L353fs	BRWD1_uc002yxl.2_Frame_Shift_Ins_p.L353fs|BRWD1_uc010goe.1_RNA|BRWD1_uc010gof.1_5'UTR|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Frame_Shift_Ins_p.L73fs	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	353	WD 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTTCAAAACCCAAAAAATACAT	0.322												
RBM45	129831	broad.mit.edu	37	2	178980994	178980994	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr2:178980993_178980993TC>T	uc002ulv.3	+	1	397	c.305_305TC>T	c.(304-306)ttcfs	p.F102fs		NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	Homo sapiens RNA binding motif protein 45 (RBM45), mRNA.	102	RRM 1.				cell differentiation|nervous system development	cytoplasm|nucleus	RNA binding|nucleotide binding	p.V101I(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			TCTTAGGTTTTCATTGCTCAG	0.318												
DNAH3	55567	broad.mit.edu	37	16	20998759	20998760	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr16:20998758_20998759A>AT	uc010vbe.2	-	46	6894_6895	c.6894_6895T>AT	c.(6892-6897)aaatgtfs	p.K2298fs	DNAH3_uc010vbd.2_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2298					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGCCGGATACATTTTTCTACAT	0.426												
ZNF429	353088	broad.mit.edu	37	19	21719297	21719298	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr19:21719296_21719297T>TTA	uc002nqd.1	+	3	578_579	c.441_442T>TTA	c.(439-444)tgtgatfs	p.C147fs	ZNF429_uc010ecu.2_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	Homo sapiens zinc finger protein 429 (ZNF429), mRNA.	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TGTATCACTGTGATATATATGT	0.332												
BRWD1	54014	broad.mit.edu	37	21	40649223	40649224	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-A452-01A-91D-A25D-08	TCGA-BR-A452-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31fb05d-9916-4ea7-a472-6a3e6d4eb206	d5a5bd89-908e-4538-8854-df337cd9a8d0	g.chr21:40649222_40649223C>CA	uc002yxk.2	-	10	1353_1354	c.1058_1059G>TG	c.(1057-1059)ttgfs	p.L353fs	BRWD1_uc021wjf.1_Frame_Shift_Ins_p.L353fs|BRWD1_uc010goe.1_Non-coding_Transcript|BRWD1_uc010gof.1_5'UTR|BRWD1_uc010gog.1_Non-coding_Transcript|BRWD1_uc010goh.1_Non-coding_Transcript|BRWD1_uc010goi.1_Frame_Shift_Ins_p.L73fs	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTTCAAAACCCAAAAAATACAT	0.322												
