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
KAZ	23254	broad.mit.edu	37	1	15386799	15386799	+	Splice_Site	SNP	G	G	A			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr1:15386799G>A	uc001avm.3	+	6	1328	c.1047_splice	c.e6+1	p.N349_splice	KAZ_uc009vog.1_Splice_Site_p.N349_splice|KAZ_uc010obj.1_Splice_Site_p.N349_splice|KAZ_uc001avo.2_Splice_Site_p.N343_splice|KAZ_uc001avp.2_Splice_Site_p.N255_splice|KAZ_uc001avq.2_Splice_Site_p.N255_splice|KAZ_uc001avr.2_Intron	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	kazrin isoform E						keratinization	cornified envelope|cytoplasm|desmosome|nucleus					0						CCTCTGCAACGTAAGGCCAGC	0.677												
ZYG11B	79699	broad.mit.edu	37	1	53262458	53262458	+	Splice_Site	SNP	T	T	C			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr1:53262458T>C	uc001cuj.2	+	8	1680	c.1485_splice	c.e8+2	p.R495_splice	ZYG11B_uc009vzg.2_Splice_Site|ZYG11B_uc010onj.1_Splice_Site_p.R486_splice|ZYG11B_uc009vzh.2_Splice_Site	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	zyg-11 homolog B								protein binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						ATTGTCAGGGTAAGTCTATAA	0.323												
MNDA	4332	broad.mit.edu	37	1	158813155	158813155	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr1:158813155G>A	uc001fsz.1	+	3	552	c.352G>A	c.(352-354)GCA>ACA	p.A118T		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	118					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(2)|skin(2)	4	all_hematologic(112;0.0378)					TGCACCCACCGCAAGAAACAA	0.443												
GPR161	23432	broad.mit.edu	37	1	168066199	168066199	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr1:168066199T>C	uc001gfc.2	-	5	960	c.646A>G	c.(646-648)AGG>GGG	p.R216G	GPR161_uc001gfb.2_Missense_Mutation_p.R84G|GPR161_uc010pll.1_Missense_Mutation_p.R126G|GPR161_uc010plm.1_Missense_Mutation_p.R102G|GPR161_uc009wvo.2_Missense_Mutation_p.R233G|GPR161_uc001gfd.2_Missense_Mutation_p.R216G|GPR161_uc010pln.1_Missense_Mutation_p.R236G|GPR161_uc001gfe.1_Missense_Mutation_p.R216G	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161 isoform 2	216	Cytoplasmic (Potential).				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_hematologic(923;0.215)					GCCTTGACCCTGGCCACGCGG	0.612												
LAMC1	3915	broad.mit.edu	37	1	183094538	183094538	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr1:183094538A>C	uc001gpy.3	+	15	2911	c.2654A>C	c.(2653-2655)AAT>ACT	p.N885T		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	885	Laminin EGF-like 9.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTAGCCTGCAATTGCAATCTG	0.428												
PRKCQ	5588	broad.mit.edu	37	10	6520982	6520982	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr10:6520982G>A	uc001ijj.1	-	12	1400	c.1325C>T	c.(1324-1326)ACG>ATG	p.T442M	PRKCQ_uc009xim.1_Missense_Mutation_p.T442M|PRKCQ_uc001iji.1_Missense_Mutation_p.T475M|PRKCQ_uc009xin.1_Missense_Mutation_p.T406M|PRKCQ_uc010qax.1_Missense_Mutation_p.T317M	NM_006257	NP_006248	Q04759	KPCT_HUMAN	protein kinase C, theta	442	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			ovary(3)|lung(2)|large_intestine(1)	6						AAACATGTGCGTCAGAAACGG	0.498												
COL17A1	1308	broad.mit.edu	37	10	105819938	105819938	+	Silent	SNP	C	C	A			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr10:105819938C>A	uc001kxr.2	-	14	1249	c.1080G>T	c.(1078-1080)CTG>CTT	p.L360L	COL17A1_uc010qqv.1_Silent_p.L344L	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	360	Cytoplasmic (Potential).|Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TCATGATGAGCAGCTCCATCT	0.532												
SORCS3	22986	broad.mit.edu	37	10	106970990	106970990	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr10:106970990G>T	uc001kyi.1	+	17	2584	c.2357G>T	c.(2356-2358)AGC>ATC	p.S786I	SORCS3_uc010qqz.1_RNA	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	786	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTTGGTCAAAGCTACCTTAAC	0.473												
PWWP2B	170394	broad.mit.edu	37	10	134219292	134219292	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr10:134219292G>A	uc001lll.3	+	2	1317	c.1288G>A	c.(1288-1290)GAG>AAG	p.E430K	PWWP2B_uc009ybe.2_Missense_Mutation_p.E430K	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2 isoform 1	430											0		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CAGCCTGGACGAGGCCAGATC	0.697												
NLRP6	171389	broad.mit.edu	37	11	281566	281566	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr11:281566A>G	uc010qvs.1	+	4	1832	c.1832A>G	c.(1831-1833)GAG>GGG	p.E611G	NLRP6_uc010qvt.1_Missense_Mutation_p.E611G	NM_138329	NP_612202	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.					cytoplasm	ATP binding			upper_aerodigestive_tract(1)|skin(1)	2		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGGAGGAGGAGGGAGAGGAG	0.662												
MICALCL	84953	broad.mit.edu	37	11	12316180	12316180	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr11:12316180G>A	uc001mkg.1	+	3	1493	c.1202G>A	c.(1201-1203)AGA>AAA	p.R401K		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	401					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			skin(1)	1				Epithelial(150;0.00177)		TCCTCCCTCAGACTCAAAGAC	0.463												
ANO3	63982	broad.mit.edu	37	11	26552873	26552873	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr11:26552873C>T	uc001mqt.3	+	8	1004	c.859C>T	c.(859-861)CGG>TGG	p.R287W	ANO3_uc010rdr.1_Missense_Mutation_p.R271W|ANO3_uc010rds.1_Missense_Mutation_p.R126W|ANO3_uc010rdt.1_Missense_Mutation_p.R141W	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	287	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CAGCCGTGCACGGATTCACCA	0.453												
TTC17	55761	broad.mit.edu	37	11	43515387	43515387	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr11:43515387C>T	uc001mxi.2	+	24	3373	c.3359C>T	c.(3358-3360)CCA>CTA	p.P1120L	TTC17_uc010rfj.1_Missense_Mutation_p.P1120L|TTC17_uc001mxl.2_Missense_Mutation_p.P176L|TTC17_uc001mxm.2_Missense_Mutation_p.P101L	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	1120							binding			ovary(5)	5						GAGTTTGTCCCAGCCAAGAAC	0.488												
SCGB1D4	404552	broad.mit.edu	37	11	62064987	62064987	+	Missense_Mutation	SNP	C	C	T	rs149931773	byFrequency	TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr11:62064987C>T	uc001ntd.1	-	2	253	c.199G>A	c.(199-201)GAT>AAT	p.D67N		NM_206998	NP_996881	Q6XE38	SG1D4_HUMAN	secretoglobin family 1D member 4 precursor	67						extracellular region	binding				0						GATATCTGATCGGTGCAGTGC	0.443												
PYGM	5837	broad.mit.edu	37	11	64519413	64519413	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr11:64519413A>G	uc001oax.3	-	14	2568	c.1751T>C	c.(1750-1752)GTC>GCC	p.V584A	PYGM_uc001oay.3_Missense_Mutation_p.V496A	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	584					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	CAGGGTGATGACATGGAGGCA	0.498												
FAT3	120114	broad.mit.edu	37	11	92532764	92532764	+	Silent	SNP	C	C	T			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr11:92532764C>T	uc001pdj.3	+	9	6602	c.6585C>T	c.(6583-6585)GTC>GTT	p.V2195V		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2195	Cadherin 20.|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)				CAGCATCTGTCAATGAAGACA	0.428										TCGA Ovarian(4;0.039)		
TMEM132D	121256	broad.mit.edu	37	12	129558572	129558572	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr12:129558572A>G	uc009zyl.1	-	9	3476	c.3148T>C	c.(3148-3150)TTC>CTC	p.F1050L	TMEM132D_uc001uia.2_Missense_Mutation_p.F588L	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	1050	Cytoplasmic (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACGGCGGTGAAGGTGGTAAAT	0.507												
MIPEP	4285	broad.mit.edu	37	13	24384033	24384033	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr13:24384033A>C	uc001uox.3	-	15	1784	c.1684T>G	c.(1684-1686)TGT>GGT	p.C562G		NM_005932	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase precursor	562					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		TTAGATTCACAAAGACGAGAC	0.358												
USPL1	10208	broad.mit.edu	37	13	31231880	31231880	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr13:31231880G>T	uc001utc.2	+	9	2098	c.1666G>T	c.(1666-1668)GCC>TCC	p.A556S	USPL1_uc001utd.2_Missense_Mutation_p.A227S|USPL1_uc001ute.1_Missense_Mutation_p.A227S	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	556					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			pancreas(2)|skin(1)	3		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TATATCAGTTGCCCCTCGTAC	0.423												
KL	9365	broad.mit.edu	37	13	33638175	33638175	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr13:33638175C>A	uc001uus.2	+	5	2899	c.2891C>A	c.(2890-2892)CCA>CAA	p.P964Q		NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	964	Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AGATTTTGTCCAGAAGAATTC	0.408												
OR4K1	79544	broad.mit.edu	37	14	20404281	20404281	+	Silent	SNP	C	C	T			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr14:20404281C>T	uc001vwj.1	+	1	456	c.456C>T	c.(454-456)GGC>GGT	p.G152G		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K,	152	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GGGCGGTGGGCGTTCTTCATT	0.458												
MDGA2	161357	broad.mit.edu	37	14	47314968	47314968	+	Splice_Site	SNP	C	C	T			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr14:47314968C>T	uc001wwj.3	-	16	2978	c.2782_splice	c.e16+1	p.N928_splice	MDGA2_uc001wwh.3_Splice_Site_p.N130_splice|MDGA2_uc001wwi.3_Splice_Site_p.N699_splice	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1						spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						AAGATACTTACTCTTAGTTGC	0.299												
NIN	51199	broad.mit.edu	37	14	51219348	51219348	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr14:51219348C>T	uc001wym.2	-	21	5029	c.4838G>A	c.(4837-4839)CGT>CAT	p.R1613H	NIN_uc001wyi.2_Missense_Mutation_p.R1613H|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.R900H|NIN_uc010tqp.1_Missense_Mutation_p.R1619H|NIN_uc001wyo.2_Missense_Mutation_p.R1613H	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	1613	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					TTCTGTTAGACGTTGATTAAG	0.368			T	PDGFRB	MPD							
RGS6	9628	broad.mit.edu	37	14	72941366	72941366	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr14:72941366C>T	uc001xna.3	+	10	1175	c.652C>T	c.(652-654)CGA>TGA	p.R218*	RGS6_uc010ttn.1_Nonsense_Mutation_p.R218*|RGS6_uc001xmx.3_Nonsense_Mutation_p.R218*|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Nonsense_Mutation_p.R218*|RGS6_uc010ttp.1_Nonsense_Mutation_p.R149*|RGS6_uc001xmz.1_Nonsense_Mutation_p.R79*	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	218					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			upper_aerodigestive_tract(1)|lung(1)|skin(1)	3				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		AATGGATATCCGAAAATGTCG	0.363												
EIF2B2	8892	broad.mit.edu	37	14	75469999	75469999	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr14:75469999G>A	uc001xrc.1	+	2	267	c.185G>A	c.(184-186)CGC>CAC	p.R62H		NM_014239	NP_055054	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B,	62					cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00661)		GAGCTGATCCGCAGAGAGGGC	0.592												
GABRB3	2562	broad.mit.edu	37	15	26793117	26793117	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr15:26793117G>C	uc001zaz.2	-	9	1387	c.1245C>G	c.(1243-1245)TTC>TTG	p.F415L	GABRB3_uc010uae.1_Missense_Mutation_p.F330L|GABRB3_uc001zba.2_Missense_Mutation_p.F415L|GABRB3_uc001zbb.2_Missense_Mutation_p.F471L	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	415	Cytoplasmic (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TGTCCCCCAGGAATCGCCCAT	0.502												
SLC12A1	6557	broad.mit.edu	37	15	48533736	48533736	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr15:48533736G>A	uc001zwn.3	+	10	1456	c.1240G>A	c.(1240-1242)GGA>AGA	p.G414R	SLC12A1_uc010uew.1_Missense_Mutation_p.G220R|SLC12A1_uc010bem.2_Missense_Mutation_p.G414R|SLC12A1_uc001zwq.3_Missense_Mutation_p.G185R|SLC12A1_uc001zwr.3_Missense_Mutation_p.G141R	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	414	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CATCCCCAGAGGAACCATGCT	0.418												
DNAH3	55567	broad.mit.edu	37	16	21073986	21073986	+	Silent	SNP	G	G	A			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr16:21073986G>A	uc010vbe.1	-	25	3537	c.3537C>T	c.(3535-3537)AAC>AAT	p.N1179N		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1179	Stem (By similarity).				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)		GCAGCTCATCGTTTGATAGGA	0.433												
TP53	7157	broad.mit.edu	37	17	7574018	7574018	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr17:7574018G>A	uc002gim.2	-	10	1203	c.1009C>T	c.(1009-1011)CGC>TGC	p.R337C	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Missense_Mutation_p.R205C|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Missense_Mutation_p.R337C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	337	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2.		R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (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.R337C(12)|p.0?(7)|p.R337L(5)|p.R337H(2)|p.?(1)|p.I332fs*5(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)		ATCTCGAAGCGCTCACGCCCA	0.448		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)		
CHD3	1107	broad.mit.edu	37	17	7809236	7809236	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr17:7809236G>A	uc002gje.2	+	28	4437	c.4287G>A	c.(4285-4287)ATG>ATA	p.M1429I	CHD3_uc002gjd.2_Missense_Mutation_p.M1488I|CHD3_uc002gjf.2_Missense_Mutation_p.M1429I|CHD3_uc002gjh.2_Missense_Mutation_p.M5I|SCARNA21_uc002gji.1_5'Flank	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1429					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				GCTGGGGGATGCCACCACAGG	0.582												
RPL26	6154	broad.mit.edu	37	17	8280949	8280949	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr17:8280949T>C	uc002glh.1	-	4	467	c.371A>G	c.(370-372)AAA>AGA	p.K124R	KRBA2_uc002glg.1_5'Flank	NM_000987	NP_000978	P61254	RL26_HUMAN	ribosomal protein L26	124					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0						TTGGCGAGATTTGGCTTTCCG	0.368												
DNAH9	1770	broad.mit.edu	37	17	11532791	11532791	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr17:11532791G>A	uc002gne.2	+	7	1476	c.1408G>A	c.(1408-1410)GTC>ATC	p.V470I		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	470	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTTCAGCGGCGTCAGAGGGAA	0.458												
SGK494	124923	broad.mit.edu	37	17	26940280	26940280	+	Silent	SNP	C	C	T			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr17:26940280C>T	uc002hbr.1	-	3	440	c.408G>A	c.(406-408)AAG>AAA	p.K136K	SGK494_uc010waq.1_Silent_p.K136K|SGK494_uc010war.1_RNA|uc010crq.1_5'Flank|uc002hbs.1_Intron	NM_144610	NP_653211			uncharacterized serine/threonine-protein kinase												0						ACGCCCCTACCTTCACTGCAA	0.443											OREG0024279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SMAD4	4089	broad.mit.edu	37	18	48591825	48591825	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr18:48591825G>A	uc010xdp.1	+	9	1526	c.988G>A	c.(988-990)GAA>AAA	p.E330K	SMAD4_uc002lfb.3_Missense_Mutation_p.E175K	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	330	MH2.		E -> G (in JPS).		BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.?(2)|p.E330A(2)|p.E330Q(1)|p.E330*(1)|p.E330K(1)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGCTTACTTTGAAATGGATGT	0.428									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia			
CYP4F2	8529	broad.mit.edu	37	19	15989716	15989716	+	Silent	SNP	C	C	T			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr19:15989716C>T	uc002nbs.1	-	13	1478	c.1428G>A	c.(1426-1428)GCG>GCA	p.A476A	CYP4F2_uc010xot.1_Silent_p.A327A	NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,	476					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			ovary(1)|skin(1)	2						CCTTCATCTCCGCCATCGCGA	0.672												
JAK3	3718	broad.mit.edu	37	19	17951134	17951134	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr19:17951134T>C	uc002nhn.3	-	9	1259	c.1159A>G	c.(1159-1161)AAC>GAC	p.N387D	JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Missense_Mutation_p.N387D|JAK3_uc010xpx.1_Missense_Mutation_p.N387D	NM_000215	NP_000206	P52333	JAK3_HUMAN	Janus kinase 3	387	SH2; atypical.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						TTGAGCTTGTTGATGGCAAAG	0.567		2	Mis		acute megakaryocytic leukemia|							
RYR1	6261	broad.mit.edu	37	19	38939333	38939333	+	Silent	SNP	C	C	T			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr19:38939333C>T	uc002oit.2	+	11	1132	c.1002C>T	c.(1000-1002)GGC>GGT	p.G334G	RYR1_uc002oiu.2_Silent_p.G334G	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	334	Cytoplasmic.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGGGCATGGGCCCCCCTGAGA	0.637												
SHANK1	50944	broad.mit.edu	37	19	51170296	51170296	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr19:51170296C>T	uc002psx.1	-	22	4940	c.4921G>A	c.(4921-4923)GCT>ACT	p.A1641T	SHANK1_uc002psw.1_Missense_Mutation_p.A1025T	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1641					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TCCCCAGGAGCGGCGGAGGCC	0.741												
HAS1	3036	broad.mit.edu	37	19	52216778	52216778	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr19:52216778C>T	uc002pxo.1	-	5	1674	c.1639G>A	c.(1639-1641)GCC>ACC	p.A547T	HAS1_uc010epc.1_Missense_Mutation_p.A147T|HAS1_uc010epd.1_3'UTR|HAS1_uc002pxn.1_Missense_Mutation_p.A554T|HAS1_uc002pxp.1_Missense_Mutation_p.A546T	NM_001523	NP_001514	Q92839	HAS1_HUMAN	hyaluronan synthase 1	547	Helical; Name=7; (Potential).				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			ovary(1)|pancreas(1)	2		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCCACGTAGGCGCCGGCCCCC	0.731												
ZNF808	388558	broad.mit.edu	37	19	53056403	53056403	+	Silent	SNP	G	G	A			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr19:53056403G>A	uc010epq.1	+	5	411	c.234G>A	c.(232-234)GGG>GGA	p.G78G	ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	78	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TGTCAACAGGGCAAGGCAATA	0.363												
BRSK1	84446	broad.mit.edu	37	19	55800942	55800942	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr19:55800942C>T	uc002qkg.2	+	4	689	c.412C>T	c.(412-414)CGC>TGC	p.R138C	BRSK1_uc002qkf.2_Missense_Mutation_p.R154C	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	138	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		AAAGTTCTTCCGCCAGATTGT	0.602												
MAP2	4133	broad.mit.edu	37	2	210560612	210560612	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr2:210560612G>C	uc002vde.1	+	7	3966	c.3718G>C	c.(3718-3720)GAA>CAA	p.E1240Q	MAP2_uc002vdc.1_Missense_Mutation_p.E1240Q|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.E1236Q	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1240					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGAAGAGATAGAAGCCCAGGG	0.493												
IRS1	3667	broad.mit.edu	37	2	227662551	227662551	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr2:227662551G>A	uc002voh.3	-	1	956	c.904C>T	c.(904-906)CGA>TGA	p.R302*		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	302	Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GTGCGTGATCGGCGGGTCAGC	0.682											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ANO7	50636	broad.mit.edu	37	2	242147068	242147068	+	Missense_Mutation	SNP	G	G	A	rs137878201		TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr2:242147068G>A	uc002wax.2	+	11	1325	c.1222G>A	c.(1222-1224)GCC>ACC	p.A408T		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	408	Extracellular (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3						GCTCTCCAGCGCCTGTGCCCT	0.622												
C20orf7	79133	broad.mit.edu	37	20	13775515	13775515	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr20:13775515T>C	uc002wom.2	+	5	440	c.407T>C	c.(406-408)GTC>GCC	p.V136A	C20orf7_uc002wol.1_Missense_Mutation_p.V136A|C20orf7_uc002won.2_Intron|C20orf7_uc002woo.2_RNA	NM_024120	NP_077025	Q5TEU4	CT007_HUMAN	hypothetical protein LOC79133 isoform 1	136					mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity				0		Myeloproliferative disorder(85;0.00878)				ATACCTACTGTCAGCGTTTTA	0.323												
CBFA2T2	9139	broad.mit.edu	37	20	32232209	32232209	+	Silent	SNP	G	G	A	rs150139351	byFrequency	TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr20:32232209G>A	uc002wzg.1	+	12	2109	c.1572G>A	c.(1570-1572)GCG>GCA	p.A524A	CBFA2T2_uc010zug.1_Silent_p.A298A|CBFA2T2_uc002wze.1_Silent_p.A515A|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Silent_p.A495A|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA|CBFA2T2_uc002wzk.1_Silent_p.A72A	NM_005093	NP_005084	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit	524	MYND-type.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)|skin(1)	2						GCAATATCGCGCGATACTGTG	0.617												
BMP7	655	broad.mit.edu	37	20	55748277	55748277	+	Silent	SNP	G	G	A			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr20:55748277G>A	uc010gip.1	-	6	1654	c.1125C>T	c.(1123-1125)AAC>AAT	p.N375N	BMP7_uc010giq.1_Silent_p.N309N|BMP7_uc002xyc.2_Silent_p.N375N	NM_001719	NP_001710	P18075	BMP7_HUMAN	bone morphogenetic protein 7 precursor	375					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			skin(1)	1	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CGATGGCGTGGTTGGTGGCGT	0.642												
FBXO7	25793	broad.mit.edu	37	22	32881120	32881120	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr22:32881120G>T	uc003amq.2	+	4	994	c.711G>T	c.(709-711)CAG>CAT	p.Q237H	FBXO7_uc003amp.1_Missense_Mutation_p.Q123H|FBXO7_uc003amr.2_Missense_Mutation_p.Q123H|FBXO7_uc003ams.2_Missense_Mutation_p.Q81H|FBXO7_uc003amt.2_Missense_Mutation_p.Q158H|FBXO7_uc003amu.2_Missense_Mutation_p.Q123H	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN	F-box only protein 7 isoform 1	237					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(1)	1						ATAAGCTGCAGTACATGCATC	0.493												
ZC3H7B	23264	broad.mit.edu	37	22	41752693	41752693	+	Silent	SNP	G	G	A			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr22:41752693G>A	uc003azw.2	+	22	2778	c.2562G>A	c.(2560-2562)AAG>AAA	p.K854K	ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	870	C2H2-type.				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1						GCAACAGCAAGAAGCAGTGGC	0.637												
PANX2	56666	broad.mit.edu	37	22	50616142	50616142	+	Missense_Mutation	SNP	G	G	A	rs139331786		TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr22:50616142G>A	uc003bjn.3	+	2	1001	c.1001G>A	c.(1000-1002)CGG>CAG	p.R334Q	PANX2_uc003bjp.3_Missense_Mutation_p.R200Q|PANX2_uc003bjo.3_Missense_Mutation_p.R334Q	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	pannexin 2 isoform 1	334	Cytoplasmic (Potential).				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)	1		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		AAGACGCGCCGGCAGTGGCGC	0.557												
PLXNB2	23654	broad.mit.edu	37	22	50728614	50728614	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr22:50728614A>T	uc003bkv.3	-	3	506	c.400T>A	c.(400-402)TAC>AAC	p.Y134N		NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	134	Extracellular (Potential).|Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCGTCCTCGTAGAACAGGCGG	0.662												
COL8A1	1295	broad.mit.edu	37	3	99513454	99513454	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr3:99513454C>T	uc003dtg.1	+	5	954	c.709C>T	c.(709-711)CGG>TGG	p.R237W	COL8A1_uc003dth.1_Missense_Mutation_p.R237W|COL8A1_uc003dti.1_Missense_Mutation_p.R238W	NM_001850	NP_001841	P27658	CO8A1_HUMAN	alpha 1 type VIII collagen precursor	237	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII					0						TCAAGGCCTTCGGGGTCCTAA	0.632												
C3orf22	152065	broad.mit.edu	37	3	126272213	126272213	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr3:126272213C>G	uc003ejb.2	-	2	350	c.21G>C	c.(19-21)AAG>AAC	p.K7N		NM_152533	NP_689746	Q8N5N4	CC022_HUMAN	hypothetical protein LOC152065	7											0				GBM - Glioblastoma multiforme(114;0.147)		GGTGAGACTTCTTGCAGGCAC	0.572												
EHHADH	1962	broad.mit.edu	37	3	184911202	184911202	+	Silent	SNP	C	C	T			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr3:184911202C>T	uc003fpf.2	-	7	1011	c.984G>A	c.(982-984)TCG>TCA	p.S328S	EHHADH_uc011brs.1_Silent_p.S232S	NM_001966	NP_001957	Q08426	ECHP_HUMAN	enoyl-Coenzyme A, hydratase/3-hydroxyacyl	328	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			ovary(3)	3	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	GGTTTTTGTCCGAGTCTACAG	0.463												
CCKAR	886	broad.mit.edu	37	4	26483541	26483541	+	Silent	SNP	G	G	T			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr4:26483541G>T	uc003gse.1	-	5	1159	c.1006C>A	c.(1006-1008)CGG>AGG	p.R336R		NM_000730	NP_000721	P32238	CCKAR_HUMAN	cholecystokinin A receptor	336	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			lung(3)|pancreas(1)	4		Breast(46;0.0503)			Ceruletide(DB00403)	TCGTAGGCCCGCCAGGCGTTG	0.602												
LPHN3	23284	broad.mit.edu	37	4	62845476	62845476	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr4:62845476C>T	uc010ihh.2	+	15	2970	c.2797C>T	c.(2797-2799)CGA>TGA	p.R933*	LPHN3_uc003hcq.3_Nonsense_Mutation_p.R933*|LPHN3_uc003hct.2_Nonsense_Mutation_p.R326*	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	920	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						TGGGATCAACCGAACTGACCA	0.443												
AGPAT9	84803	broad.mit.edu	37	4	84502749	84502749	+	Silent	SNP	A	A	G			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr4:84502749A>G	uc003how.2	+	4	461	c.243A>G	c.(241-243)AAA>AAG	p.K81K	AGPAT9_uc003hox.2_Silent_p.K81K|AGPAT9_uc003hoy.2_Silent_p.K81K	NM_032717	NP_116106	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	81					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			skin(1)	1		Hepatocellular(203;0.114)				CCATGGAAAAAGGGCTCTCTG	0.433												
DNAH5	1767	broad.mit.edu	37	5	13753603	13753603	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr5:13753603C>A	uc003jfd.2	-	63	10653	c.10611G>T	c.(10609-10611)GAG>GAT	p.E3537D	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3537					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					GATCACGAAACTCTTGGTTAA	0.383									Kartagener_syndrome			
DNAH5	1767	broad.mit.edu	37	5	13844951	13844951	+	Missense_Mutation	SNP	C	C	T	rs116524991	byFrequency	TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr5:13844951C>T	uc003jfd.2	-	32	5308	c.5266G>A	c.(5266-5268)GAA>AAA	p.E1756K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1756	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					CGAACCTTTTCGTGGAACTTG	0.463									Kartagener_syndrome			
CDH10	1008	broad.mit.edu	37	5	24509821	24509821	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr5:24509821T>C	uc003jgr.1	-	7	1442	c.1110A>G	c.(1108-1110)ATA>ATG	p.I370M	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	370	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		AGATTTTCACTATGGTAGTAT	0.383										HNSCC(23;0.051)		
C5orf20	140947	broad.mit.edu	37	5	134782298	134782298	+	Silent	SNP	G	G	A			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr5:134782298G>A	uc003lav.2	-	1	741	c.501C>T	c.(499-501)TCC>TCT	p.S167S		NM_130848	NP_570900	Q8TF63	DCNP1_HUMAN	dendritic cell nuclear protein 1	167	Ser-rich.					nucleus					0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATGAAGTCTCGGATGGGCAGA	0.473												
PCDHA6	56142	broad.mit.edu	37	5	140207815	140207815	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr5:140207815C>T	uc003lho.2	+	1	166	c.139C>T	c.(139-141)CGG>TGG	p.R47W	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_Missense_Mutation_p.R47W|PCDHA6_uc011dab.1_Missense_Mutation_p.R47W	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	47	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCGTGGGCCGGATCGCGCA	0.662												
PCDHB10	56126	broad.mit.edu	37	5	140573466	140573466	+	Silent	SNP	C	C	T			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr5:140573466C>T	uc003lix.2	+	1	1515	c.1341C>T	c.(1339-1341)AAC>AAT	p.N447N		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	447	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAATGACAACGCCCCCGCCT	0.597												
PCDHB14	56122	broad.mit.edu	37	5	140604275	140604275	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr5:140604275T>A	uc003ljb.2	+	1	1198	c.1198T>A	c.(1198-1200)TTT>ATT	p.F400I	PCDHB14_uc011dal.1_Missense_Mutation_p.F247I	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	400	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTCAAGAACTTTTTCACTCT	0.448												
STK32A	202374	broad.mit.edu	37	5	146752830	146752830	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr5:146752830G>C	uc010jgn.1	+	10	1156	c.876G>C	c.(874-876)AAG>AAC	p.K292N	STK32A_uc003lom.2_Missense_Mutation_p.K292N|STK32A_uc011dbw.1_Missense_Mutation_p.K292N	NM_001112724	NP_001106195	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A isoform 1	292							ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTTCAGAAGAGGCTCATTC	0.303												
GPX6	257202	broad.mit.edu	37	6	28478622	28478622	+	Silent	SNP	G	G	A			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr6:28478622G>A	uc011dlj.1	-	2	197	c.147C>T	c.(145-147)AAC>AAT	p.N49N	GPX6_uc010jrg.1_RNA	NM_182701	NP_874360	P59796	GPX6_HUMAN	glutathione peroxidase 6 precursor	49					response to oxidative stress	extracellular region	glutathione peroxidase activity			ovary(3)|pancreas(1)|skin(1)	5					Glutathione(DB00143)	ACTCCTCGCCGTTGAGGGTGA	0.458												
PRIM2	5558	broad.mit.edu	37	6	57512667	57512667	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr6:57512667G>T	uc003pdx.2	+	15	1582	c.1495G>T	c.(1495-1497)GAA>TAA	p.E499*		NM_000947	NP_000938	P49643	PRI2_HUMAN	DNA primase polypeptide 2	499					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding				0				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		AATGGATATGGAAGGACTAGA	0.388												
BAI3	577	broad.mit.edu	37	6	70070788	70070788	+	Missense_Mutation	SNP	G	G	A	rs144968426		TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr6:70070788G>A	uc003pev.3	+	29	4071	c.3623G>A	c.(3622-3624)CGA>CAA	p.R1208Q	BAI3_uc010kak.2_Missense_Mutation_p.R1208Q|BAI3_uc011dxx.1_Missense_Mutation_p.R414Q	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1208	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				GGTCCTTGCCGAGCAGCCACA	0.358												
COL12A1	1303	broad.mit.edu	37	6	75828817	75828817	+	Silent	SNP	G	G	T			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr6:75828817G>T	uc003phs.2	-	46	7462	c.7296C>A	c.(7294-7296)GTC>GTA	p.V2432V	COL12A1_uc003pht.2_Silent_p.V1268V	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2432	VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						GACCGTCCGTGACCACAACCA	0.493												
LAMA4	3910	broad.mit.edu	37	6	112499358	112499358	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr6:112499358A>G	uc003pvu.2	-	10	1463	c.1154T>C	c.(1153-1155)GTA>GCA	p.V385A	LAMA4_uc003pvv.2_Missense_Mutation_p.V378A|LAMA4_uc003pvt.2_Missense_Mutation_p.V378A	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	385	Potential.|Domain II and I.				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)		GGCTTGCTCTACCAGCTGACT	0.378												
WBSCR17	64409	broad.mit.edu	37	7	70800611	70800611	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr7:70800611C>T	uc003tvy.2	+	2	314	c.314C>T	c.(313-315)CCG>CTG	p.P105L	WBSCR17_uc003tvz.2_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	105	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ACTCTTTCCCCGGCTGAAGAA	0.473												
AP4M1	9179	broad.mit.edu	37	7	99699356	99699356	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr7:99699356A>G	uc003utb.3	+	1	227	c.19A>G	c.(19-21)ATT>GTT	p.I7V	MCM7_uc003usv.1_5'Flank|MCM7_uc003usw.1_5'UTR|MCM7_uc003usx.1_5'UTR|AP4M1_uc011kjg.1_Missense_Mutation_p.I7V|AP4M1_uc010lgl.1_Missense_Mutation_p.I7V|AP4M1_uc003utc.3_Missense_Mutation_p.I7V|AP4M1_uc010lgm.2_5'UTR|AP4M1_uc003utd.2_Missense_Mutation_p.I7V|AP4M1_uc011kjh.1_5'Flank|AP4M1_uc003ute.3_5'Flank|AP4M1_uc003utf.3_5'Flank	NM_004722	NP_004713	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	7					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCAATTCTTCATTCTGTCCTC	0.632												
MOGAT3	346606	broad.mit.edu	37	7	100842085	100842085	+	Silent	SNP	C	C	T			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr7:100842085C>T	uc003uyc.2	-	4	482	c.315G>A	c.(313-315)CCG>CCA	p.P105P	MOGAT3_uc010lhr.2_Silent_p.P105P	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	105					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			ovary(2)	2	Lung NSC(181;0.168)|all_lung(186;0.215)					AGTTCCGATCCGGGGGCAGCT	0.587												
TMEM140	55281	broad.mit.edu	37	7	134849342	134849342	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr7:134849342A>G	uc003vsi.2	+	2	430	c.149A>G	c.(148-150)TAT>TGT	p.Y50C	C7orf49_uc003vsh.2_Intron	NM_018295	NP_060765	Q9NV12	TM140_HUMAN	transmembrane protein 140	50	Extracellular (Potential).					integral to membrane				large_intestine(1)	1						ATCGGCTTCTATAACTTCTGC	0.572												
CNTNAP2	26047	broad.mit.edu	37	7	147092772	147092772	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr7:147092772A>C	uc003weu.1	+	10	2086	c.1570A>C	c.(1570-1572)ATT>CTT	p.I524L		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	524	Extracellular (Potential).|Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CATGCAGCTCATTCAAGTGGA	0.428										HNSCC(39;0.1)		
PXDNL	137902	broad.mit.edu	37	8	52721826	52721826	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr8:52721826G>A	uc003xqu.3	-	1	180	c.79C>T	c.(79-81)CGG>TGG	p.R27W		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	27	LRRNT.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CAAAGGCACCGGCTGGGGCAG	0.582												
CHD7	55636	broad.mit.edu	37	8	61757606	61757606	+	Silent	SNP	C	C	T			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr8:61757606C>T	uc003xue.2	+	22	5511	c.5034C>T	c.(5032-5034)GCC>GCT	p.A1678A		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1678					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGACTCGAGCCTTGGTCAACC	0.478												
TTPA	7274	broad.mit.edu	37	8	63973833	63973833	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr8:63973833C>A	uc003xux.1	-	5	847	c.815G>T	c.(814-816)AGC>ATC	p.S272I		NM_000370	NP_000361	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	272					lipid metabolic process		transporter activity|vitamin E binding				0	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	CTCAGAAATGCTGCTGAGATA	0.358												
VCPIP1	80124	broad.mit.edu	37	8	67578740	67578740	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr8:67578740T>A	uc003xwn.2	-	1	713	c.454A>T	c.(454-456)ATG>TTG	p.M152L	SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	152					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CCCTGGTTCATGTCCCGGAGA	0.542												
LINGO2	158038	broad.mit.edu	37	9	27949433	27949433	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr9:27949433G>A	uc003zqu.1	-	2	1431	c.1237C>T	c.(1237-1239)CGT>TGT	p.R413C	LINGO2_uc010mjf.1_Missense_Mutation_p.R413C|LINGO2_uc003zqv.1_Missense_Mutation_p.R413C	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	413	Ig-like C2-type.|Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TTCTTTTCACGGATTTTGGGT	0.488												
ANKRD20A3	441425	broad.mit.edu	37	9	42368565	42368565	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr9:42368565C>T	uc004acd.2	+	1	263	c.151C>T	c.(151-153)CGC>TGC	p.R51C	ANKRD20A3_uc010mmv.2_Missense_Mutation_p.R51C	NM_001012419	NP_001012419	Q5VUR7	A20A3_HUMAN	ankyrin repeat domain 20 family, member A3	51											0						GGAGGTGGAGCGCTGCTTGGC	0.682												
CDK20	23552	broad.mit.edu	37	9	90584120	90584120	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr9:90584120C>T	uc004apr.2	-	7	1138	c.832G>A	c.(832-834)GCA>ACA	p.A278T	CDK20_uc004aps.2_Missense_Mutation_p.A257T|CDK20_uc004apt.2_Missense_Mutation_p.A270T|CDK20_uc004apu.2_Silent_p.S215S	NM_001039803	NP_001034892	Q8IZL9	CDK20_HUMAN	cell cycle related kinase isoform 3	278	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						TTGGAAGCTGCGATGCGCTGG	0.602												
WNK2	65268	broad.mit.edu	37	9	96061535	96061535	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr9:96061535G>A	uc004ati.1	+	25	6218	c.6218G>A	c.(6217-6219)CGT>CAT	p.R2073H	WNK2_uc011lud.1_Missense_Mutation_p.R2036H|WNK2_uc004atj.2_Missense_Mutation_p.R2036H|WNK2_uc004atk.2_Intron|WNK2_uc004atl.1_Missense_Mutation_p.R630H	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2073					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						GGCGGAGCGCGTGGCCAAGGT	0.647												
COL15A1	1306	broad.mit.edu	37	9	101824554	101824554	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr9:101824554G>A	uc004azb.1	+	38	3765	c.3559G>A	c.(3559-3561)GAC>AAC	p.D1187N		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	1187	Nonhelical region 10 (NC10).			Missing (in Ref. 2; AAC78500).	angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				CATTCCTGCCGACAGCCCTCC	0.438												
IKBKAP	8518	broad.mit.edu	37	9	111642444	111642444	+	Silent	SNP	G	G	A			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr9:111642444G>A	uc004bdm.3	-	32	3868	c.3348C>T	c.(3346-3348)GCC>GCT	p.A1116A	IKBKAP_uc004bdl.2_Silent_p.A767A|IKBKAP_uc011lwc.1_Silent_p.A1002A|IKBKAP_uc010mtq.2_Silent_p.A767A|IKBKAP_uc004bdk.2_Silent_p.A120A|IKBKAP_uc010mtp.2_RNA	NM_003640	NP_003631	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene	1116					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	7						AATTTTTCTGGGCTGGAGATG	0.438												
HSDL2	84263	broad.mit.edu	37	9	115221775	115221775	+	Silent	SNP	G	G	T			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr9:115221775G>T	uc004bga.1	+	10	1155	c.1062G>T	c.(1060-1062)GGG>GGT	p.G354G	HSDL2_uc011lwv.1_Silent_p.G233G|HSDL2_uc004bgb.1_Silent_p.G188G|HSDL2_uc004bgc.1_Silent_p.G281G|HSDL2_uc011lww.1_Silent_p.G149G	NM_032303	NP_115679	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	354	SCP2.					peroxisome	oxidoreductase activity|sterol binding				0						GCAAGGGTGGGAATGTCGGAT	0.398												
PAPPA	5069	broad.mit.edu	37	9	119106854	119106854	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr9:119106854G>A	uc004bjn.2	+	14	4025	c.3644G>A	c.(3643-3645)TGT>TAT	p.C1215Y	PAPPA_uc011lxq.1_Missense_Mutation_p.C590Y	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	1215	Sushi 1.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						AAAACTGACTGTCCAGAGCTG	0.557												
UBAC1	10422	broad.mit.edu	37	9	138838155	138838155	+	Silent	SNP	C	C	T			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr9:138838155C>T	uc004cgt.2	-	5	722	c.504G>A	c.(502-504)GCG>GCA	p.A168A	UBAC1_uc004cgs.1_Silent_p.A168A|UBAC1_uc004cgu.2_RNA	NM_016172	NP_057256	Q9BSL1	UBAC1_HUMAN	ubiquitin associated domain containing 1	168						Golgi apparatus|plasma membrane	protein binding			skin(2)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		CTGGGTTCAGCGCTAACAGCT	0.512												
MAP3K15	389840	broad.mit.edu	37	X	19390935	19390935	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chrX:19390935C>T	uc004czk.1	-	23	3006	c.1369G>A	c.(1369-1371)GAG>AAG	p.E457K	MAP3K15_uc004czj.1_Missense_Mutation_p.E417K|MAP3K15_uc004czi.1_5'UTR	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase	982							ATP binding|MAP kinase kinase kinase activity|metal ion binding			ovary(3)|lung(2)|stomach(1)|skin(1)	7	Hepatocellular(33;0.183)					GCTGAGCTCTCGTCTGGAACA	0.622												
DIAPH2	1730	broad.mit.edu	37	X	96136668	96136668	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chrX:96136668C>A	uc004efu.3	+	5	934	c.538C>A	c.(538-540)CTT>ATT	p.L180I	DIAPH2_uc004eft.3_Missense_Mutation_p.L180I|DIAPH2_uc004efs.2_Missense_Mutation_p.L187I|RPA4_uc004efv.3_5'Flank	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	180	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4						TGAGAAACTTCTTAATTGCCT	0.378												
AGRN	375790	broad.mit.edu	37	1	970694	970711	+	Splice_Site	DEL	GCCTCCTGATGGTGAGTA	GCCTCCTGATGGTGAGTA	-			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr1:970693_970710CGCCTCCTGATGGTGAGTA>C	uc001ack.2	+	3	561	c.511_splice	c.e3+1	p.A171_splice		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	171					axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GTGCCTCCGACGCCTCCTGATGGTGAGTAGGGCTGAGT	0.587												
FAM129C	199786	broad.mit.edu	37	19	17644504	17644517	+	Splice_Site	DEL	TCCTTGGGTAAGGG	TCCTTGGGTAAGGG	-			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr19:17644503_17644516ATCCTTGGGTAAGGG>A	uc021uqj.1	+	5	658	c.520_splice	c.e5+1	p.G174_splice	FAM129C_uc021uqi.1_Splice_Site_p.G174_splice|FAM129C_uc010xps.2_Splice_Site_p.G143_splice|FAM129C_uc010xpt.2_Splice_Site	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	Homo sapiens family with sequence similarity 129, member C (FAM129C), transcript variant 1, mRNA.	174										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						TCTGCCCTGAATCCTTGGGTAAGGGTCCCGGGGT	0.584												
KIAA0907	22889	broad.mit.edu	37	1	155903624	155903624	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr1:155903624delC	uc001fmi.1	-	2	79	c.55delG	c.(55-57)GACfs	p.D19fs	KIAA0907_uc001fmj.1_Frame_Shift_Del_p.D19fs|KIAA0907_uc009wrk.1_Frame_Shift_Del_p.D19fs|KIAA0907_uc009wrl.1_RNA|KIAA0907_uc001fml.1_Frame_Shift_Del_p.D19fs|KIAA0907_uc001fmm.2_Frame_Shift_Del_p.D19fs|KIAA0907_uc001fmo.2_Frame_Shift_Del_p.D19fs	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	hypothetical protein LOC22889	19											0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GCTGGTTGGTCCCATTTGCTG	0.572												
DBX2	440097	broad.mit.edu	37	12	45444341	45444341	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr12:45444341delC	uc001rok.1	-	1	542	c.370delG	c.(370-372)GACfs	p.D124fs		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	124						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		CAGTCTCGGTCCCCCGGAGCC	0.716												
ARL1	400	broad.mit.edu	37	12	101799750	101799750	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr12:101799750delA	uc001tib.2	-	2	163	c.14delT	c.(13-15)TTCfs	p.F5fs	ARL1_uc010svn.1_Intron|ARL1_uc010svo.1_RNA|ARL1_uc001tic.2_Frame_Shift_Del_p.F5fs	NM_001177	NP_001168	P40616	ARL1_HUMAN	ADP-ribosylation factor-like 1	5					small GTPase mediated signal transduction	Golgi membrane	enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding			central_nervous_system(1)	1		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		TATACTTGAGAAAAAGCCACC	0.313												
UNC13A	23025	broad.mit.edu	37	19	17751464	17751464	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr19:17751464delA	uc002nhd.2	-	22	2907	c.2907delT	c.(2905-2907)TTTfs	p.F969fs		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	881					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						AGAGGCAGGCAAAGTGGCTGG	0.597												
DHX34	9704	broad.mit.edu	37	19	47878931	47878931	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr19:47878931delC	uc010xyn.1	+	10	2614	c.2273delC	c.(2272-2274)GCCfs	p.A758fs	DHX34_uc010xyo.1_5'Flank	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	758						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GCTGGCCCAGCCCCCCCAGGG	0.716												
GLTSCR1	29998	broad.mit.edu	37	19	48184530	48184531	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr19:48184530_48184531insT	uc002phh.3	+	6	2297_2298	c.2103_2104insT	c.(2101-2106)CCCCAGfs	p.P701fs	GLTSCR1_uc002phi.3_Frame_Shift_Ins_p.P459fs	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	701_702							protein binding			pancreas(3)	3		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		TGTTCCTGCCCCAGGTAAGCAG	0.668												
MAP4K4	9448	broad.mit.edu	37	2	102460728	102460729	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr2:102460728_102460729insT	uc002tbg.2	+	12	1243_1244	c.1188_1189insT	c.(1186-1191)CAGAAGfs	p.Q396fs	MAP4K4_uc002tbc.2_Frame_Shift_Ins_p.Q396fs|MAP4K4_uc002tbd.2_Frame_Shift_Ins_p.Q396fs|MAP4K4_uc002tbe.2_Frame_Shift_Ins_p.Q396fs|MAP4K4_uc002tbf.2_Frame_Shift_Ins_p.Q396fs|MAP4K4_uc010yvy.1_Frame_Shift_Ins_p.Q396fs|MAP4K4_uc002tbh.2_Frame_Shift_Ins_p.Q396fs|MAP4K4_uc002tbi.2_Frame_Shift_Ins_p.Q249fs|MAP4K4_uc010yvz.1_Frame_Shift_Ins_p.Q376fs|MAP4K4_uc002tbk.2_5'UTR|MAP4K4_uc002tbj.1_Frame_Shift_Ins_p.Q292fs	NM_145687	NP_663720	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase	396_397					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						CAGAGAGACAGAAGCGGATTGA	0.480												
AGRN	375790	broad.mit.edu	37	1	970694	970711	+	Splice_Site	DEL	GCCTCCTGATGGTGAGTA	GCCTCCTGATGGTGAGTA	-			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr1:970693_970710CGCCTCCTGATGGTGAGTA>C	uc001ack.2	+	3	561	c.511_splice	c.e3+1	p.A171_splice		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	171					axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GTGCCTCCGACGCCTCCTGATGGTGAGTAGGGCTGAGT	0.587												
PDE1B	5153	broad.mit.edu	37	12	54968991	54968993	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr12:54968990_54968992ATTC>A	uc001sgd.2	+	10	1566_1568	c.1173_1175ATTC>A	c.(1171-1176)gaattc>gaAc	p.F393del	PDE1B_uc010soz.2_In_Frame_Del_p.F256del|PDE1B_uc010spa.1_In_Frame_Del_p.F352del|PDE1B_uc001sge.3_In_Frame_Del_p.F373del|PDE1B_uc001sgf.3_In_Frame_Del_p.F256del|PDE1B_uc009znq.3_In_Frame_Del_p.F189del	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	393	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.F392L(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TCATGGAGGAATTCTTCCGTCAG	0.581												
SALL1	6299	broad.mit.edu	37	16	51174686	51174696	+	Frame_Shift_Del	DEL	CGCAGATGTTG	CGCAGATGTTG	-	rs148915594		TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr16:51174685_51174695CCGCAGATGTTG>C	uc021tif.1	-	1	1469_1479	c.1147_1157CAACATCTGCGG>G	c.(1147-1158)aacatctgcgggfs	p.N383fs	SALL1_uc021tid.1_Frame_Shift_Del_p.N383fs|SALL1_uc021tie.1_Frame_Shift_Del_p.N480fs|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	480					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G483W(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GAACCTGTTCCCGCAGATGTTGCACTTGAAT	0.517												
USP36	57602	broad.mit.edu	37	17	76795809	76795809	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr17:76795808_76795808TC>T	uc002jvz.1	-	17	3390	c.3065_3065GA>A	c.(3064-3066)gagfs	p.E1022fs	USP36_uc002jwa.1_Frame_Shift_Del_p.E1022fs|USP36_uc002jvy.1_Frame_Shift_Del_p.E82fs	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	Homo sapiens ubiquitin specific peptidase 36 (USP36), mRNA.	1020					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CACATCAGACTCCCGCTCTCC	0.488												
FAM129C	199786	broad.mit.edu	37	19	17644504	17644517	+	Splice_Site	DEL	TCCTTGGGTAAGGG	TCCTTGGGTAAGGG	-			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chr19:17644503_17644516ATCCTTGGGTAAGGG>A	uc021uqj.1	+	5	658	c.520_splice	c.e5+1	p.G174_splice	FAM129C_uc021uqi.1_Splice_Site_p.G174_splice|FAM129C_uc010xps.2_Splice_Site_p.G143_splice|FAM129C_uc010xpt.2_Splice_Site	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	Homo sapiens family with sequence similarity 129, member C (FAM129C), transcript variant 1, mRNA.	174										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						TCTGCCCTGAATCCTTGGGTAAGGGTCCCGGGGT	0.584												
PIGA	5277	broad.mit.edu	37	X	15342927	15342956	+	In_Frame_Del	DEL	GCTCACATAAAATAATAAGGTTTTCTGGAA	GCTCACATAAAATAATAAGGTTTTCTGGAA	-			TCGA-CD-5804-01A-12D-2053-08	TCGA-CD-5804-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36609c37-a039-4fb8-97cc-d492e92f3b05	cd0ff572-f125-478b-b186-f3cb523f39be	g.chrX:15342926_15342955GGCTCACATAAAATAATAAGGTTTTCTGGAA>G	uc004cwr.3	-	4	1136_1165	c.1020_1049TTCCAGAAAACCTTATTATTTTATGTGAGCC>C	c.(1018-1050)cttccagaaaaccttattattttatgtgagcct>ctCt	p.PENLIILCEP341del	PIGA_uc010neu.3_Intron|PIGA_uc010nev.3_In_Frame_Del_p.PENLIILCEP172del|PIGA_uc004cwq.3_In_Frame_Del_p.PENLIILCEP26del|PIGA_uc004cws.3_In_Frame_Del_p.PENLIILCEP26del|PIGA_uc011miq.2_In_Frame_Del_p.PENLIILCEP107del	NM_002641	NP_002632	P37287	PIGA_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class A (PIGA), transcript variant 1, mRNA.	341					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding	p.I346V(2)		endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					TTTTACTGAAGGCTCACATAAAATAATAAGGTTTTCTGGAAGCACCTCAG	0.378