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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PAMR1	25891	broad.mit.edu	37	11	35492219	35492219	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:35492219G>A	uc001mwf.3	-	4	685	c.642C>T	c.(640-642)ctC>ctT	p.L214L	PAMR1_uc001mwg.3_Silent_p.L214L|PAMR1_uc010rew.2_Intron|PAMR1_uc010rex.2_Silent_p.L174L	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	214	CUB.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						AGAGGACGTGGAGTGAGGATC	0.512000														44			26		0	0	0.00127121	0	0
ZNF578	147660	broad.mit.edu	37	19	53014574	53014574	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:53014574C>T	uc002pzp.4	+	5	1184	c.940C>T	c.(940-942)Cct>Tct	p.P314S		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TGGTGAGAAACCTTACAAGTG	0.413000														53			38		0	0	0.00195071	0	0
F12	2161	broad.mit.edu	37	5	176829663	176829663	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:176829663T>C	uc003mgo.4	-	12	1617	c.1568A>G	c.(1567-1569)cAg>cGg	p.Q523R	PFN3_uc003mgl.2_5'Flank	NM_000505	NP_000496	P00748	FA12_HUMAN	Homo sapiens coagulation factor XII (Hageman factor) (F12), mRNA.	523	Peptidase S1.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAACGGTACCTGCGCCTCCTG	0.662000									Hereditary Angioedema					14			11		0	0	0.00136819	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762118	92762118	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:92762118G>A	uc003umh.1	-	4	4383	c.3167C>T	c.(3166-3168)tCc>tTc	p.S1056F	SAMD9L_uc003umj.1_Missense_Mutation_p.S1056F|SAMD9L_uc003umi.1_Missense_Mutation_p.S1056F|SAMD9L_uc010lfb.1_Missense_Mutation_p.S1056F|SAMD9L_uc003umk.1_Missense_Mutation_p.S1056F|SAMD9L_uc010lfc.1_Missense_Mutation_p.S1056F|SAMD9L_uc010lfd.1_Missense_Mutation_p.S1056F|SAMD9L_uc022ahh.1_Missense_Mutation_p.S1056F	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1056										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CATTAATGGGGAAAACAGAGT	0.393000														21			33		0	0	0.000953801	0	0
MUC16	94025	broad.mit.edu	37	19	9046048	9046048	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:9046048C>T	uc002mkp.3	-	4	35787	c.35583G>A	c.(35581-35583)atG>atA	p.M11861I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11863	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGTTGGAATCATTGTGCTGG	0.493000														92			18		0	0	0.00074312	0	0
ADH1B	125	broad.mit.edu	37	4	100237445	100237445	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:100237445G>A	uc003hus.4	-	3	358	c.274C>T	c.(274-276)Ccg>Tcg	p.P92S	ADH1B_uc003hut.4_Missense_Mutation_p.P52S|ADH1B_uc011ceh.2_5'UTR|ADH1B_uc011cei.1_Missense_Mutation_p.P52S	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	92					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GTAAAGAGCGGGATGACTTTA	0.373000														13			12		0	0	0.00244969	0	0
SGSM1	129049	broad.mit.edu	37	22	25255689	25255689	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:25255689G>A	uc003abg.2	+	8	965	c.808G>A	c.(808-810)Gac>Aac	p.D270N	SGSM1_uc010guu.1_Missense_Mutation_p.D270N|SGSM1_uc003abh.2_Missense_Mutation_p.D270N|SGSM1_uc003abj.2_Missense_Mutation_p.D270N|SGSM1_uc003abi.1_Missense_Mutation_p.D245N|SGSM1_uc003abf.2_Missense_Mutation_p.D270N	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	270						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GCAGAGGGACGACATGGAGGC	0.562000														27			16		0	0	0.000566183	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43927606	43927606	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:43927606G>T	uc010yny.2	+	7	1592	c.1509G>T	c.(1507-1509)atG>atT	p.M503I	PLEKHH2_uc002rte.3_Missense_Mutation_p.M503I|PLEKHH2_uc002rtf.3_Missense_Mutation_p.M502I	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	503						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TAGAGAATATGGACACGAGTT	0.413000														503			9		0.000274275	0.000619781	0.000274275	1	0
CHL1	10752	broad.mit.edu	37	3	423911	423911	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:423911G>A	uc003bot.3	+	16	2568	c.1926G>A	c.(1924-1926)agG>agA	p.R642R	CHL1_uc003bou.3_Silent_p.R626R|CHL1_uc003bow.2_Silent_p.R626R|CHL1_uc011asi.2_Silent_p.R642R|BC065754_uc003box.1_Intron	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	626	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GACAGAACAGGAGTGTTCGGC	0.408000														32			14		0	0	0.000566183	0	0
PRKCQ	5588	broad.mit.edu	37	10	6470206	6470206	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:6470206G>A	uc001iji.1	-	16	2267	c.2183C>T	c.(2182-2184)tCc>tTc	p.S728F	PRKCQ_uc001ijj.2_Missense_Mutation_p.S695F|PRKCQ_uc009xim.2_Missense_Mutation_p.S632F|PRKCQ_uc009xin.2_Missense_Mutation_p.S659F|PRKCQ_uc010qax.2_Missense_Mutation_p.S570F	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	695					T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						GTTCATGAAGGAAAAGTTCCT	0.488000														110			47		0	0	0.00361006	0	0
OLIG2	10215	broad.mit.edu	37	21	34399244	34399244	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:34399244G>A	uc002yqx.2	+	1	255	c.74G>A	c.(73-75)cGg>cAg	p.R25Q	OLIG2_uc021wil.1_Missense_Mutation_p.R25Q	NM_005806	NP_005797	Q13516	OLIG2_HUMAN	Homo sapiens oligodendrocyte lineage transcription factor 2 (OLIG2), mRNA.	25						cytoplasm|nucleus|plasma membrane	DNA binding			breast(1)|central_nervous_system(2)	3						CTGCCGGCCCGGAGTAAGGGC	0.706000			T	TRA@	T-ALL									24			12		0	0	0.000978159	0	0
PMEPA1	56937	broad.mit.edu	37	20	56227201	56227201	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:56227201C>T	uc002xyq.3	-	3	1165	c.772G>A	c.(772-774)Ggg>Agg	p.G258R	PMEPA1_uc002xyr.3_Missense_Mutation_p.G208R|PMEPA1_uc002xys.3_Missense_Mutation_p.G223R|PMEPA1_uc002xyt.3_Missense_Mutation_p.G208R	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN	Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA.	258					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	p.E257*(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						AGCCGGGTCCCCTCCAGCAAG	0.647000														3			6		0	0	0.00198382	0	0
MRGPRD	116512	broad.mit.edu	37	11	68747514	68747514	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:68747514C>T	uc010rqf.2	-	0	942	c.942G>A	c.(940-942)gtG>gtA	p.V314V		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	Homo sapiens MAS-related GPR, member D (MRGPRD), mRNA.	314						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CATTGGTGCCCACGGTGGGCG	0.687000														29			16		0	0	0.00316338	0	0
PCDH19	57526	broad.mit.edu	37	X	99605699	99605699	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:99605699C>T	uc010nmz.3	-	3	4296	c.2620G>A	c.(2620-2622)Gaa>Aaa	p.E874K	PCDH19_uc004efw.4_Missense_Mutation_p.E827K|PCDH19_uc004efx.4_Missense_Mutation_p.E827K	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	874					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GAATAGTTTTCAGTCTGCAAT	0.358000														7			18		0	0	0.00188189	0	0
PTCHD2	57540	broad.mit.edu	37	1	11579534	11579534	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:11579534C>T	uc001ash.4	+	7	2150	c.2012C>T	c.(2011-2013)cCc>cTc	p.P671L	PTCHD2_uc001asi.1_Missense_Mutation_p.P671L	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	671					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GATGACATCCCCTTGCTGGAG	0.637000														72			58		0	0	0.00361006	0	0
RBMS2	5939	broad.mit.edu	37	12	56965567	56965567	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:56965567C>T	uc001sln.2	+	4	669	c.470C>T	c.(469-471)cCc>cTc	p.P157L	RBMS2_uc010sqp.1_Intron|RBMS2_uc010sqq.1_Missense_Mutation_p.P32L|RBMS2_uc009zou.2_5'UTR	NM_002898	NP_002889	Q15434	RBMS2_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 2 (RBMS2), mRNA.	157	RRM 2.				RNA processing	nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						ATGCTGAAGCCCTTTGGCCAG	0.512000														33			20		0	0	0.000958276	0	0
MAP2K6	5608	broad.mit.edu	37	17	67515502	67515502	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:67515502G>A	uc002jij.3	+	4	583	c.295G>A	c.(295-297)Gat>Aat	p.D99N	MAP2K6_uc002jii.3_Missense_Mutation_p.D99N|MAP2K6_uc002jik.3_Missense_Mutation_p.D129N	NM_002758	NP_002749	P52564	MP2K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 6 (MAP2K6), mRNA.	99	Protein kinase.				DNA damage induced protein phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|cell cycle arrest|innate immune response|muscle cell differentiation|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					GCTACTGATGGATTTGGATAT	0.468000														102			61		0	0	0.00361006	0	0
ZNF318	24149	broad.mit.edu	37	6	43324955	43324955	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:43324955G>A	uc003oux.3	-	2	1175	c.1097C>T	c.(1096-1098)tCt>tTt	p.S366F	ZNF318_uc003ouw.3_Non-coding_Transcript	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	366					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CCGATGCAAAGAATATCCTGG	0.512000														53			13		0	0	0.00136819	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140724994	140724994	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140724994A>G	uc003ljm.2	+	0	1394	c.1394A>G	c.(1393-1395)aAc>aGc	p.N465S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.N465S	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	467	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGAAAACAACCCCAGAGGA	0.522000														88			47		0	0	0.00361006	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229977	8229977	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:8229977G>A	uc003gkv.4	+	11	2657	c.2556G>A	c.(2554-2556)cgG>cgA	p.R852R	SH3TC1_uc003gkw.4_Silent_p.R776R|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	852							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AGTCTGTCCGGGATGCAGTGG	0.677000														53			19		0	0	0.00121646	0	0
MTUS2	23281	broad.mit.edu	37	13	29600623	29600623	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:29600623G>A	uc001usl.4	+	0	1876	c.1818G>A	c.(1816-1818)ggG>ggA	p.G606G		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	596						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GCCCCAGTGGGATCCCCAAGC	0.532000														23			9		0	0	0.000442599	0	0
AXL	558	broad.mit.edu	37	19	41758763	41758763	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:41758763A>C	uc010ehj.3	+	15	2007	c.1817A>C	c.(1816-1818)cAg>cCg	p.Q606P	AXL_uc010ehk.3_Missense_Mutation_p.Q597P	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	606	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GTCTGTTTCCAGGGTTCTGAA	0.592000														72			18		0	0	0.00152264	0	0
PAX5	5079	broad.mit.edu	37	9	37015113	37015113	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:37015113T>A	uc003zzo.1	-	2	739	c.291A>T	c.(289-291)gaA>gaT	p.E97D	PAX5_uc011lqc.1_Missense_Mutation_p.E97D|PAX5_uc010mlr.1_Missense_Mutation_p.E97D|PAX5_uc011lpw.1_Missense_Mutation_p.E97D|PAX5_uc011lpx.1_Intron|PAX5_uc011lpy.1_5'UTR|PAX5_uc010mls.1_Missense_Mutation_p.E97D|PAX5_uc011lpz.1_Missense_Mutation_p.E97D|PAX5_uc011lqa.1_5'UTR|PAX5_uc010mlq.1_Non-coding_Transcript|PAX5_uc011lqb.1_Non-coding_Transcript|PAX5_uc010mlo.1_Missense_Mutation_p.E97D|PAX5_uc010mlp.1_Missense_Mutation_p.E97D|PAX5_uc011lqd.1_Intron|PAX5_uc011lqe.1_Non-coding_Transcript|PAX5_uc011lqf.1_Intron|PAX5_uc011lqg.1_Non-coding_Transcript	NM_016734	NP_057953	Q02548	PAX5_HUMAN	Homo sapiens paired box 5 (PAX5), mRNA.	97	Paired.				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(42)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		CAGCGATTTTTTCCACCACTT	0.507000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""									211			120		0	0	0.00361006	0	0
RPS6KA3	6197	broad.mit.edu	37	X	20252888	20252888	+	Silent	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:20252888A>G	uc004czu.3	-	1	114	c.114T>C	c.(112-114)atT>atC	p.I38I	RPS6KA3_uc004czv.3_Silent_p.I26I|RPS6KA3_uc011mjl.2_Silent_p.I10I|RPS6KA3_uc011mjm.2_Silent_p.I10I	NM_004586	NP_004577	P51812	KS6A3_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 3 (RPS6KA3), mRNA.	38			I -> S (in dbSNP:rs56218010).		MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|central nervous system development|innate immune response|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						TTTGTGGGTTAATCTCCTCCT	0.343000														15			36		0	0	0.00222228	0	0
ATP2B3	492	broad.mit.edu	37	X	152821606	152821606	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:152821606G>A	uc004fht.1	+	11	2284	c.2158G>A	c.(2158-2160)Ggc>Agc	p.G720S	ATP2B3_uc004fhs.1_Missense_Mutation_p.G720S	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	720					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	p.G720D(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCCAAATGCGGCATCATCCA	0.612000														13			31		0	0	0.001512	0	0
AOX1	316	broad.mit.edu	37	2	201473824	201473824	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:201473824G>A	uc002uvx.3	+	10	1126	c.1025G>A	c.(1024-1026)gGa>gAa	p.G342E	AOX1_uc010zhf.2_5'Flank|AOX1_uc010fsu.3_5'Flank	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	342	FAD-binding PCMH-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AAGCATTTGGGAACTCTGGCT	0.498000														15			13		0	0	0.00316338	0	0
DNAH5	1767	broad.mit.edu	37	5	13900349	13900349	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:13900349C>T	uc003jfd.2	-	14	2267	c.2225G>A	c.(2224-2226)cGa>cAa	p.R742Q		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	742	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTATCTATCTCGTTTCTGGAA	0.388000									Kartagener syndrome					29			15		0	0	0.00400662	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8218223	8218223	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:8218223G>A	uc002glc.3	+	5	1145	c.990_splice	c.e5-1	p.R330_splice	ARHGEF15_uc002gld.3_Splice_Site_p.R330_splice|ARHGEF15_uc010vuw.2_Splice_Site_p.R219_splice	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	330					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						TTTCTCCACAGGGAAGAGGAG	0.607000														13			13		0	0	0.00136819	0	0
CNGB1	1258	broad.mit.edu	37	16	57931750	57931750	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:57931750C>T	uc002emt.2	-	29	3110	c.3045G>A	c.(3043-3045)ggG>ggA	p.G1015G	CNGB1_uc010cdh.2_Silent_p.G1009G	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	1015					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCACAGATTTCCCATCAGGGC	0.557000														153			68		0	0	0.00361006	0	0
FBLN5	10516	broad.mit.edu	37	14	92336628	92336628	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:92336628G>A	uc010aue.3	-	11	1883	c.1410C>T	c.(1408-1410)atC>atT	p.I470I	TC2N_uc001xzv.4_5'Flank|FBLN5_uc010aud.3_Silent_p.I434I|FBLN5_uc001xzx.4_Silent_p.I429I|FBLN5_uc001xzw.3_Non-coding_Transcript	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	Homo sapiens fibulin 5 (FBLN5), mRNA.	429					cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				CTCTGAAGTTGATGACAGTGT	0.577000														87			63		0	0	0.00361006	0	0
KRT80	144501	broad.mit.edu	37	12	52566898	52566898	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:52566898C>T	uc001rzw.3	-	3	1037	c.986G>A	c.(985-987)aGc>aAc	p.S329N	KRT80_uc001rzy.3_Missense_Mutation_p.S294N|KRT80_uc001rzx.3_Missense_Mutation_p.S294N	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN	Homo sapiens keratin 80 (KRT80), transcript variant 1, mRNA.	294	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GCTGCGGCTGCTCTGGAGGCT	0.647000														14			8		0	0	0.000274275	0	0
USP29	57663	broad.mit.edu	37	19	57642603	57642603	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:57642603T>C	uc002qny.3	+	3	2916	c.2560T>C	c.(2560-2562)Ttc>Ctc	p.F854L	USP29_uc021vci.1_Missense_Mutation_p.F854L	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	854					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCAGGCCTGGTTCACATACAA	0.468000														44			17		0	0	0.00074312	0	0
CASP10	843	broad.mit.edu	37	2	202074097	202074097	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:202074097C>T	uc002uxj.1	+	8	1645	c.1227C>T	c.(1225-1227)tcC>tcT	p.S409S	CASP10_uc010ftb.2_3'UTR|CASP10_uc010fta.1_Silent_p.S342S|CASP10_uc002uxk.1_Silent_p.S366S|CASP10_uc002uxl.2_Silent_p.S409S|CASP10_uc002uxm.2_Silent_p.S366S	NM_032977	NP_116759	Q92851	CASPA_HUMAN	Homo sapiens caspase 10, apoptosis-related cysteine peptidase (CASP10), transcript variant 1, mRNA.	409					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						TACAGCCTTCCGTATCCATCG	0.532000														52			15		0	0	0.00400662	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793164	65793164	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:65793164G>A	uc001ogt.3	-	0	825	c.687C>T	c.(685-687)tcC>tcT	p.S229S		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	229	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CATGATGACGGGACCTGCCAT	0.587000														31			6		0	0	0.00116845	0	0
GRM4	2914	broad.mit.edu	37	6	34101214	34101214	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:34101214G>A	uc003oir.4	-	0	423	c.60C>T	c.(58-60)ctC>ctT	p.L20L	GRM4_uc011dsn.2_Silent_p.L20L|GRM4_uc010jvh.3_Silent_p.L20L|GRM4_uc010jvi.3_5'UTR|GRM4_uc010jvk.1_Intron	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	20					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CGTAAAGGCTGAGGAGCAGGC	0.622000														28			18		0	0	0.000958276	0	0
PRDM5	11107	broad.mit.edu	37	4	121631568	121631568	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:121631568C>T	uc003idn.3	-	15	1874	c.1624_splice	c.e15-1	p.E542_splice	PRDM5_uc003ido.3_Splice_Site_p.E511_splice|PRDM5_uc010ine.3_Splice_Site_p.G482_splice	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	Homo sapiens PR domain containing 5 (PRDM5), mRNA.	542					histone H3-K9 methylation|histone deacetylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TACGGCTTCTCCTGCAGTCAA	0.493000														3			6		0	0	0.00198382	0	0
WDR75	84128	broad.mit.edu	37	2	190334817	190334817	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:190334817C>T	uc002uql.1	+	16	1895	c.1835C>T	c.(1834-1836)cCt>cTt	p.P612L	WDR75_uc002uqm.1_Missense_Mutation_p.P548L|WDR75_uc002uqn.1_Missense_Mutation_p.P390L	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	Homo sapiens WD repeat domain 75 (WDR75), mRNA.	612						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			GTATTTAAACCTAGTGAGCCA	0.423000														48			15		0	0	0.00400662	0	0
MX1	4599	broad.mit.edu	37	21	42821111	42821111	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:42821111C>T	uc010goq.3	+	11	1667	c.1321C>T	c.(1321-1323)Cgt>Tgt	p.R441C	MX1_uc002yzh.3_Missense_Mutation_p.R441C|MX1_uc002yzi.3_Missense_Mutation_p.R441C	NM_001178046	NP_002453	P20591	MX1_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) (MX1), transcript variant 3, mRNA.	441					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				AAATCAGTATCGTGGTAGAGA	0.373000														99			7		0	0	0.000274275	0	0
PC	5091	broad.mit.edu	37	11	66631276	66631276	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:66631276G>A	uc001ojn.1	-	9	1386	c.1337C>T	c.(1336-1338)gCc>gTc	p.A446V	PC_uc001ojo.1_Missense_Mutation_p.A446V|PC_uc001ojp.1_Missense_Mutation_p.A446V	NM_022172	NP_071504	P11498	PYC_HUMAN	Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	446	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CTCCGCAAGGGCCCTGCTCAT	0.657000														83			22		0	0	0.00278032	0	0
PRPF8	10594	broad.mit.edu	37	17	1555054	1555054	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:1555054G>A	uc002fte.3	-	39	6512	c.6398C>T	c.(6397-6399)cCa>cTa	p.P2133L	RILP_uc002ftd.3_5'Flank	NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	2133	MPN.					U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GTTATCTGGTGGGCTCACCCC	0.577000														46			54		0	0	0.00361006	0	0
PRKCQ	5588	broad.mit.edu	37	10	6553137	6553137	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:6553137G>A	uc001iji.1	-	1	321	c.237C>T	c.(235-237)atC>atT	p.I79I	PRKCQ_uc001ijj.2_Silent_p.I46I|PRKCQ_uc009xim.2_Silent_p.I46I|PRKCQ_uc009xin.2_Silent_p.I10I|PRKCQ_uc010qax.2_5'UTR	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	46	C2.				T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						GCTTTTTCTGGATATACATCT	0.453000														39			6		0	0	0.00307968	0	0
ABTB2	25841	broad.mit.edu	37	11	34194758	34194758	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:34194758G>A	uc001mvl.2	-	3	1766	c.1341C>T	c.(1339-1341)atC>atT	p.I447I		NM_145804	NP_665803	A8K6S9	A8K6S9_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 2 (ABTB2), mRNA.	261							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CTGCCTGCCGGATGTCGCCGC	0.672000														20			19		0	0	0.00188189	0	0
CALML3	810	broad.mit.edu	37	10	5567393	5567393	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:5567393G>A	uc001iie.1	+	0	470	c.345G>A	c.(343-345)gaG>gaA	p.E115E	AK128534_uc001iid.1_5'Flank	NM_005185	NP_005176	P27482	CALL3_HUMAN	Homo sapiens calmodulin-like 3 (CALML3), mRNA.	115	EF-hand 3.						calcium ion binding			endometrium(3)|lung(2)	5						GGCTGGGGGAGAAGCTGAGTG	0.647000														18			4		0	0	0.000602214	0	0
CCDC99	54908	broad.mit.edu	37	5	169026118	169026118	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:169026118C>T	uc003mae.4	+	9	1558	c.1279C>T	c.(1279-1281)Ctg>Ttg	p.L427L	CCDC99_uc010jjj.3_Silent_p.L356L|CCDC99_uc011deq.2_Silent_p.L244L|CCDC99_uc010jjk.3_Silent_p.L153L	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	Homo sapiens coiled-coil domain containing 99 (CCDC99), mRNA.	427					cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(8)|ovary(1)|skin(1)	25	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAATATGAAACTGAGAGCTAA	0.313000														42			13		0	0	0.00400662	0	0
GPR152	390212	broad.mit.edu	37	11	67219040	67219040	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:67219040G>A	uc001olm.3	-	0	1161	c.1156C>T	c.(1156-1158)Ccc>Tcc	p.P386S	CABP4_uc009yrw.1_5'Flank|CABP4_uc001oln.3_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	Homo sapiens G protein-coupled receptor 152 (GPR152), mRNA.	386						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TGGGCTGTGGGATCCGACTGT	0.637000														24			22		0	0	0.00278032	0	0
FSD2	123722	broad.mit.edu	37	15	83456038	83456038	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:83456038G>A	uc002bjd.2	-	1	272	c.105C>T	c.(103-105)ctC>ctT	p.L35L	FSD2_uc010uol.1_Silent_p.L35L|FSD2_uc010uom.1_Silent_p.L35L	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA.	35								p.L35L(2)		breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						CTTCTGGAAAGAGGTGCAGTC	0.502000														76			51		0	0	0.00361006	0	0
AHCYL2	23382	broad.mit.edu	37	7	129046259	129046259	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:129046259C>T	uc011kov.2	+	9	1310	c.1247C>T	c.(1246-1248)tCc>tTc	p.S416F	AHCYL2_uc003vot.3_Missense_Mutation_p.S415F|AHCYL2_uc003vov.3_Missense_Mutation_p.S313F|AHCYL2_uc011kox.2_Missense_Mutation_p.S313F	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	Homo sapiens adenosylhomocysteinase-like 2 (AHCYL2), transcript variant 1, mRNA.	416					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GCCATGGGCTCCATTGTGTAT	0.498000														72			40		0	0	0.00321405	0	0
C15orf63	25764	broad.mit.edu	37	15	44092743	44092743	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:44092743C>T	uc001ztb.3	+	2	568	c.85C>T	c.(85-87)Cct>Tct	p.P29S	ELL3_uc001zsx.1_5'Flank|SERINC4_uc001ztc.1_5'Flank|SERINC4_uc010bds.1_5'Flank|SERINC4_uc001zte.1_5'Flank|C15orf63_uc001ztf.3_5'UTR|C15orf63_uc021skf.1_5'UTR|C15orf63_uc001ztg.1_5'UTR	NM_016400	NP_057484	Q9NX55	HYPK_HUMAN	Homo sapiens chromosome 15 open reading frame 63 (C15orf63), transcript variant 1, mRNA.	0										endometrium(1)|large_intestine(1)|ovary(1)	3						AGCCCCGCCTCCTCCCCGGGC	0.612000														6			6		0	0	0.00116845	0	0
LGR5	8549	broad.mit.edu	37	12	71898457	71898457	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:71898457G>A	uc001swl.3	+	1	324	c.276G>A	c.(274-276)ctG>ctA	p.L92L	LGR5_uc001swm.3_Silent_p.L92L|LGR5_uc021rar.1_Silent_p.L92L|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	92						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TCCGCTTCCTGGAGGAGTTGT	0.498000														86			50		0	0	0.00361006	0	0
SQRDL	58472	broad.mit.edu	37	15	45968309	45968309	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:45968309G>A	uc001zvu.3	+	6	858	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	SQRDL_uc001zvv.3_Missense_Mutation_p.R222Q	NM_021199	NP_067022	Q9Y6N5	SQRD_HUMAN	Homo sapiens sulfide quinone reductase-like (yeast) (SQRDL), nuclear gene encoding mitochondrial protein, mRNA.	222							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		ACAGGGAAGCGATCCAAGGCC	0.433000														197			97		0	0	0.00361006	0	0
PLBD1	79887	broad.mit.edu	37	12	14706247	14706247	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:14706247T>G	uc001rcc.1	-	1	376	c.215A>C	c.(214-216)aAc>aCc	p.N72T		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	Homo sapiens phospholipase B domain containing 1 (PLBD1), mRNA.	72					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						TTTCACAGAGTTATTGTAAAA	0.463000														42			27		0	0	0.000720815	0	0
TBC1D21	161514	broad.mit.edu	37	15	74173986	74173986	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:74173986G>A	uc002avz.3	+	3	252	c.169_splice	c.e3-1	p.G57_splice	TBC1D21_uc010ulc.2_Splice_Site_p.G21_splice	NM_153356	NP_699187	Q8IYX1	TBC21_HUMAN	Homo sapiens TBC1 domain family, member 21 (TBC1D21), mRNA.	57	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						CCACCCCAGGGTCTGCACCCC	0.612000														11			5		0	0	0.000602214	0	0
TACC2	10579	broad.mit.edu	37	10	123970852	123970852	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:123970852G>A	uc001lfv.3	+	8	7272	c.6912G>A	c.(6910-6912)atG>atA	p.M2304I	TACC2_uc001lfw.3_Missense_Mutation_p.M450I|TACC2_uc009xzx.3_Missense_Mutation_p.M2259I|TACC2_uc010qtv.2_Missense_Mutation_p.M2308I|TACC2_uc001lfx.3_Missense_Mutation_p.M8I|TACC2_uc001lfy.3_Missense_Mutation_p.M8I|TACC2_uc001lfz.3_Missense_Mutation_p.M382I|TACC2_uc001lga.3_Missense_Mutation_p.M382I|TACC2_uc009xzy.3_Missense_Mutation_p.M382I|TACC2_uc001lgb.3_Missense_Mutation_p.M339I|TACC2_uc010qtw.1_Missense_Mutation_p.M399I	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2304						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGCCAAAGATGAAAAAGACAC	0.498000														54			30		0	0	0.00106085	0	0
FZD4	8322	broad.mit.edu	37	11	86666029	86666029	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:86666029C>T	uc001pce.3	-	0	412	c.99G>A	c.(97-99)ccG>ccA	p.P33P	LOC100506368_uc001pcf.3_5'Flank	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN	Homo sapiens frizzled family receptor 4 (FZD4), mRNA.	33			P -> S (in EVR1).		Wnt receptor signaling pathway, calcium modulating pathway|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis	cell projection|cell surface|cytoplasm	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|cytokine binding|protein heterodimerization activity|protein homodimerization activity			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGCCCCGCGCCGGCCCCAGGA	0.716000														26			10		0	0	0.00244969	0	0
ZNF479	90827	broad.mit.edu	37	7	57188460	57188460	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:57188460G>A	uc010kzo.3	-	4	933	c.662C>T	c.(661-663)tCc>tTc	p.S221F		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GCAGTTAAAGGATTTGCCACA	0.373000														16			4		0	0	0.00024832	0	0
KRT74	121391	broad.mit.edu	37	12	52966262	52966262	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:52966262C>T	uc001sap.1	-	1	709	c.661G>A	c.(661-663)Gat>Aat	p.D221N		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	Homo sapiens keratin 74 (KRT74), mRNA.	221	Coil 1B.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		TCCACCAGATCCCTCATGCTT	0.582000														62			9		0	0	0.000673444	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33637813	33637813	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:33637813T>G	uc003jia.1	-	11	1920	c.1757A>C	c.(1756-1758)aAa>aCa	p.K586T	ADAMTS12_uc010iuq.1_Missense_Mutation_p.K586T	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	586	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCGATAGCGTTTTCTTTCTCC	0.448000										HNSCC(64;0.19)				24			4		0	0	0.00024832	0	0
MYLK3	91807	broad.mit.edu	37	16	46771906	46771906	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:46771906G>A	uc002eei.4	-	2	834	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L	MYLK3_uc010vge.2_Intron|MYLK3_uc002eej.1_5'UTR	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	240					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GGCAGGGGCAGGTGGCCAGGG	0.657000														21			8		0	0	0.000274275	0	0
TRPC3	7222	broad.mit.edu	37	4	122833196	122833196	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:122833196G>A	uc003ieg.2	-	4	1468	c.1394C>T	c.(1393-1395)tCt>tTt	p.S465F	TRPC3_uc010inr.2_Missense_Mutation_p.S337F|TRPC3_uc003ief.2_Missense_Mutation_p.S392F|TRPC3_uc011cgl.1_Missense_Mutation_p.S129F	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	380					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GATGATGAAAGAAGCTGCATG	0.448000														7			6		0	0	0.00116845	0	0
EPHX3	79852	broad.mit.edu	37	19	15338587	15338587	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:15338587G>A	uc002nap.3	-	5	1061	c.852C>T	c.(850-852)ctC>ctT	p.L284L	EPHX3_uc002naq.3_Silent_p.L284L	NM_024794	NP_079070	Q9H6B9	EPHX3_HUMAN	Homo sapiens epoxide hydrolase 3 (EPHX3), transcript variant 1, mRNA.	284						extracellular region	hydrolase activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CTCACCTGAAGAGGTTTCGGT	0.577000														12			9		0	0	0.000442599	0	0
PSMD9	5715	broad.mit.edu	37	12	122353785	122353785	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:122353785C>T	uc001ubl.3	+	4	696	c.579C>T	c.(577-579)atC>atT	p.I193I	WDR66_uc009zxk.3_5'Flank|PSMD9_uc009zxj.3_Non-coding_Transcript|WDR66_uc021rfh.1_5'Flank	NM_002813	NP_002804	O00233	PSMD9_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 9 (PSMD9), mRNA.	193	PDZ.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of insulin secretion|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of insulin secretion|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	nucleus|proteasome regulatory particle	bHLH transcription factor binding|transcription coactivator activity			endometrium(1)|large_intestine(1)|lung(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)		TGACAGTGATCCGCAGGGGGG	0.478000														25			10		0	0	0.00136819	0	0
MLL	4297	broad.mit.edu	37	11	118343024	118343024	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:118343024C>T	uc001pta.3	+	2	1173	c.1150C>T	c.(1150-1152)Caa>Taa	p.Q384*	MLL_uc001ptb.3_Nonsense_Mutation_p.Q384*|MLL_uc001psz.1_Nonsense_Mutation_p.Q417*|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	384					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		AAAGGGGGCTCAAAAGAAAAT	0.423000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									17			26		0	0	0.00395357	0	0
ARRDC3	57561	broad.mit.edu	37	5	90667261	90667261	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:90667261G>A	uc003kjz.2	-	7	1441	c.1201C>T	c.(1201-1203)Cct>Tct	p.P401S		NM_020801	NP_065852	Q96B67	ARRD3_HUMAN	Homo sapiens arrestin domain containing 3 (ARRDC3), mRNA.	401					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		GACTGATCAGGATTTGGATCA	0.398000														10			6		0	0	0.00116845	0	0
OR10H1	26539	broad.mit.edu	37	19	15918298	15918298	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:15918298G>A	uc002nbq.2	-	0	639	c.550C>T	c.(550-552)Ctg>Ttg	p.L184L		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						AACTTCAACAGAGGTGGCACA	0.572000														59			12		0	0	0.000978159	0	0
CNTN4	152330	broad.mit.edu	37	3	2967439	2967439	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:2967439G>A	uc003bpc.3	+	12	1673	c.1334G>A	c.(1333-1335)aGg>aAg	p.R445K	CNTN4_uc003bpb.1_Missense_Mutation_p.R117K|CNTN4_uc021wsg.1_Missense_Mutation_p.R445K|CNTN4_uc003bpd.1_Missense_Mutation_p.R445K|CNTN4_uc003bpe.3_Missense_Mutation_p.R117K|CNTN4_uc003bpf.3_Missense_Mutation_p.R117K	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	445	Ig-like C2-type 5.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.P444S(1)|p.P444T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AAGAAAGGAAGGGATATATTA	0.348000														111			48		0	0	0.00361006	0	0
C19orf29	58509	broad.mit.edu	37	19	3623989	3623989	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:3623989G>A	uc002lyh.3	-	1	392	c.339C>T	c.(337-339)tcC>tcT	p.S113S	C19orf29_uc010dtn.3_5'Flank|C19orf29_uc002lyi.4_Silent_p.S113S|C19orf29_uc010dto.3_Non-coding_Transcript	NM_001080543	NP_067054	Q8WUQ7	CS029_HUMAN	Homo sapiens chromosome 19 open reading frame 29 (C19orf29), transcript variant 1, mRNA.	113						catalytic step 2 spliceosome	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(2)	15		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGATGCTGAGGAGCTAGGAG	0.711000														13			4		0	0	0.00024832	0	0
FOXI1	2299	broad.mit.edu	37	5	169533504	169533504	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:169533504C>T	uc003mai.4	+	0	588	c.543C>T	c.(541-543)ttC>ttT	p.F181F	FOXI1_uc003maj.4_Silent_p.F181F	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	181					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACGACTGCTTCAAGAAGGTGC	0.587000									Pendred syndrome					9			10		0	0	0.00244969	0	0
DNAH8	1769	broad.mit.edu	37	6	38881675	38881675	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:38881675G>A	uc021yzh.1	+	66	10019	c.9910G>A	c.(9910-9912)Gat>Aat	p.D3304N	DNAH8_uc003ooe.2_Missense_Mutation_p.D3087N|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACTCTCTCAGGATCTTGCAGT	0.373000														17			8		0	0	0.000442599	0	0
TRPM6	140803	broad.mit.edu	37	9	77343241	77343241	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:77343241C>T	uc004ajl.1	-	37	6087	c.5849G>A	c.(5848-5850)gGa>gAa	p.G1950E	TRPM6_uc004ajk.1_Missense_Mutation_p.G1945E|TRPM6_uc022bib.1_Missense_Mutation_p.G1945E|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.G901E|TRPM6_uc010mpd.1_Missense_Mutation_p.G783E|TRPM6_uc010mpe.1_Missense_Mutation_p.G497E|TRPM6_uc004ajj.1_Missense_Mutation_p.G906E	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1950	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATTGGCCGGTCCAAACACCAT	0.433000														15			18		0	0	0.000566183	0	0
PAK7	57144	broad.mit.edu	37	20	9561046	9561046	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:9561046A>T	uc002wnl.2	-	4	1281	c.736T>A	c.(736-738)Tcc>Acc	p.S246T	PAK7_uc002wnk.2_Missense_Mutation_p.S246T|PAK7_uc002wnj.2_Missense_Mutation_p.S246T|PAK7_uc010gby.1_Missense_Mutation_p.S246T	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	246	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTCTCCTTGGAGCACCCGCTG	0.532000														47			29		0	0	0.000878237	0	0
POGZ	23126	broad.mit.edu	37	1	151400343	151400343	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:151400343G>A	uc001eyd.2	-	6	1349	c.1034C>T	c.(1033-1035)gCt>gTt	p.A345V	POGZ_uc021oyq.1_Missense_Mutation_p.A292V|POGZ_uc010pdb.2_Missense_Mutation_p.A336V|POGZ_uc010pdc.2_Missense_Mutation_p.A283V|POGZ_uc009wmv.2_Missense_Mutation_p.A250V|POGZ_uc001eyf.2_Missense_Mutation_p.A292V|POGZ_uc010pdd.2_Intron|POGZ_uc001eyg.2_Missense_Mutation_p.A345V	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA.	345					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGAGCCATGAGCAGAGCTGTT	0.468000														23			11		0	0	0.000978159	0	0
SGSM1	129049	broad.mit.edu	37	22	25289463	25289463	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:25289463C>T	uc003abg.2	+	17	2158	c.2001C>T	c.(1999-2001)atC>atT	p.I667I	SGSM1_uc010guu.1_Silent_p.I612I|SGSM1_uc003abh.2_Intron|SGSM1_uc003abj.2_Intron|SGSM1_uc003abi.1_Silent_p.I587I	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	667	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GCGAGGCGATCGTGCGGCAGA	0.642000														26			23		0	0	0.00395357	0	0
FAM166A	401565	broad.mit.edu	37	9	140139814	140139814	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:140139814C>T	uc004cmi.1	-	2	522	c.467G>A	c.(466-468)gGg>gAg	p.G156E		NM_001001710	NP_001001710	Q6J272	F166A_HUMAN	Homo sapiens family with sequence similarity 166, member A (FAM166A), mRNA.	156										kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						GGCCTCTTCCCCGTATACTGG	0.662000														22			35		0	0	0.00327116	0	0
COL4A4	1286	broad.mit.edu	37	2	227924234	227924234	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:227924234C>T	uc021vxr.1	-	26	2371	c.2270G>A	c.(2269-2271)gGa>gAa	p.G757E	COL4A4_uc021vxs.1_Missense_Mutation_p.G757E	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	757	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCCCGGGATTCCTTTCTGACC	0.607000														54			38		0	0	0.000953801	0	0
SI	6476	broad.mit.edu	37	3	164754210	164754210	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:164754210C>T	uc003fei.3	-	21	2545	c.2482G>A	c.(2482-2484)Gga>Aga	p.G828R		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	828	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AAAAAGTCTCCTTTGGCTGTG	0.343000										HNSCC(35;0.089)				11			7		0	0	0.000442599	0	0
GINS4	84296	broad.mit.edu	37	8	41394708	41394708	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:41394708C>T	uc003xnx.3	+	3	403	c.193C>T	c.(193-195)Ctc>Ttc	p.L65F	GINS4_uc022aug.1_Non-coding_Transcript	NM_032336	NP_115712	Q9BRT9	SLD5_HUMAN	Homo sapiens GINS complex subunit 4 (Sld5 homolog) (GINS4), mRNA.	65					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			GGAAGAAAATCTCAGGAGAGC	0.458000														18			10		0	0	0.000978159	0	0
abParts	0	broad.mit.edu	37	14	106405836	106405836	+	RNA	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:106405836C>T	uc021ser.1	-	3033		c.49956G>A								Parts of antibodies, mostly variable regions.																		AGACACTGTCCCCGGAGATGG	0.572000														30			21		0	0	0.00121646	0	0
MYT1L	23040	broad.mit.edu	37	2	1926121	1926121	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:1926121G>A	uc002qxe.3	-	9	2247	c.1420C>T	c.(1420-1422)Ccc>Tcc	p.P474S	MYT1L_uc002qxd.3_Missense_Mutation_p.P474S|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	474					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P474P(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCCTCCCCGGGAAGTTGTCTC	0.473000														43			41		0	0	0.00222228	0	0
CEP350	9857	broad.mit.edu	37	1	180063583	180063583	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:180063583C>T	uc001gnt.3	+	33	8726	c.8343C>T	c.(8341-8343)atC>atT	p.I2781I	CEP350_uc009wxl.2_Silent_p.I2780I|CEP350_uc001gnv.3_Silent_p.I916I|CEP350_uc001gnw.1_Silent_p.I538I|CEP350_uc001gnx.1_Silent_p.I538I	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	2781						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ATGAGAAAATCCAGCTTAGCA	0.388000														20			27		0	0	0.00106085	0	0
IQSEC3	440073	broad.mit.edu	37	12	278263	278263	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:278263C>T	uc001qhw.2	+	11	3056	c.3056C>T	c.(3055-3057)tCg>tTg	p.S1019L	IQSEC3_uc001qhu.1_Missense_Mutation_p.S716L	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	1019					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		AAGCAAGGATCGCCGACAGGT	0.642000														36			14		0	0	0.00244969	0	0
HOXC10	3226	broad.mit.edu	37	12	54379302	54379302	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:54379302C>T	uc001sen.3	+	0	357	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C		NM_017409	NP_059105	Q9NYD6	HXC10_HUMAN	Homo sapiens homeobox C10 (HOXC10), mRNA.	87					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						AGCCGCCTATCGCCTGGAACA	0.632000														58			18		0	0	0.00188189	0	0
SLC41A1	254428	broad.mit.edu	37	1	205760769	205760769	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:205760769G>A	uc001hdh.1	-	10	2306	c.1434C>T	c.(1432-1434)tcC>tcT	p.S478S	SLC41A1_uc001hdg.1_Silent_p.S99S	NM_173854	NP_776253	Q8IVJ1	S41A1_HUMAN	Homo sapiens solute carrier family 41, member 1 (SLC41A1), mRNA.	478						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGTATGGGATGGAGAAGTTGT	0.602000											OREG0014162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			41		0	0	0.0025221	0	0
CD163L1	283316	broad.mit.edu	37	12	7531782	7531782	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:7531782C>T	uc010sge.2	-	8	2219	c.2193G>A	c.(2191-2193)atG>atA	p.M731I	CD163L1_uc001qsy.3_Missense_Mutation_p.M721I	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	721	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CAGCAATGTTCATTCCCCAGC	0.488000														62			12		0	0	0.00185496	0	0
GMDS	2762	broad.mit.edu	37	6	1742737	1742737	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:1742737G>A	uc003mtq.3	-	7	1067	c.855C>T	c.(853-855)gtC>gtT	p.V285V	GMDS_uc021ykn.1_Silent_p.V255V	NM_001500	NP_001491	O60547	GMDS_HUMAN	Homo sapiens GDP-mannose 4,6-dehydratase (GMDS), transcript variant 1, mRNA.	285					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		GDP-mannose 4,6-dehydratase activity|coenzyme binding		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		ATGATTTCTCGACAAATTCCC	0.463000														49			11		0	0	0.000673444	0	0
ABCA4	24	broad.mit.edu	37	1	94520762	94520762	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:94520762C>T	uc001dqh.3	-	15	2596	c.2492G>A	c.(2491-2493)gGg>gAg	p.G831E	ABCA4_uc010otn.1_Missense_Mutation_p.G757E	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	831					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GAATTCGTCCCCTTCCGTGGG	0.537000														66			4		0	0	0.000602214	0	0
SCN11A	11280	broad.mit.edu	37	3	38988316	38988316	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:38988316G>A	uc021wvy.1	-	1	549	c.350C>T	c.(349-351)tCa>tTa	p.S117L		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	117					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ACTTCTGATTGAATTGAAAGG	0.403000														78			37		0	0	0.000953801	0	0
CYTH4	27128	broad.mit.edu	37	22	37707063	37707063	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:37707063C>T	uc003arf.3	+	9	959	c.843C>T	c.(841-843)ttC>ttT	p.F281F	CYTH4_uc011amw.2_Silent_p.F224F	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	Homo sapiens cytohesin 4 (CYTH4), mRNA.	281	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GGCGCTGGTTCATCCTGACCG	0.627000														80			41		0	0	0.0025221	0	0
GLCE	26035	broad.mit.edu	37	15	69561544	69561544	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:69561544G>A	uc002ary.1	+	4	2043	c.1815G>A	c.(1813-1815)tgG>tgA	p.W605*		NM_015554	NP_056369	O94923	GLCE_HUMAN	Homo sapiens glucuronic acid epimerase (GLCE), mRNA.	605					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						TCAAGAGGTGGAAAAGCTACC	0.483000														78			39		0	0	0.00195071	0	0
SETD3	84193	broad.mit.edu	37	14	99871664	99871664	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:99871664G>A	uc001ygc.3	-	9	1139	c.969C>T	c.(967-969)atC>atT	p.I323I		NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	Homo sapiens SET domain containing 3 (SETD3), transcript variant 1, mRNA.	323					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				AACCACTGTGGATCACAAACT	0.398000														37			29		0	0	0.00209593	0	0
DSE	29940	broad.mit.edu	37	6	116757777	116757777	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:116757777C>T	uc011ebg.2	+	5	2302	c.2203C>T	c.(2203-2205)Cgt>Tgt	p.R735C	DSE_uc003pws.3_Missense_Mutation_p.R716C|DSE_uc003pwt.3_Missense_Mutation_p.R716C|DSE_uc003pwu.3_Missense_Mutation_p.R383C	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	716					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CATTGCTGATCGTCACAAAAT	0.493000														23			18		0	0	0.000958276	0	0
TSC1	7248	broad.mit.edu	37	9	135804225	135804225	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:135804225G>A	uc004cca.2	-	2	269	c.35C>T	c.(34-36)gCc>gTc	p.A12V	TSC1_uc004ccb.3_Missense_Mutation_p.A12V|TSC1_uc011mcq.1_Missense_Mutation_p.A12V|TSC1_uc011mcr.2_Intron|TSC1_uc011mcs.1_5'UTR|TSC1_uc004ccc.1_Missense_Mutation_p.A12V|TSC1_uc004cce.1_Missense_Mutation_p.A12V	NM_000368	NP_000359	Q92574	TSC1_HUMAN	Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA.	12					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of translation|positive regulation of focal adhesion assembly|rRNA export from nucleus|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly	TSC1-TSC2 complex|cell cortex|lamellipodium|membrane	chaperone binding|protein N-terminus binding	p.A12A(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GTCCAGCATGGCAAGAAGCTC	0.507000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					17			28		0	0	0.001512	0	0
AMHR2	269	broad.mit.edu	37	12	53819593	53819593	+	Missense_Mutation	SNP	G	A	A	rs146554515		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:53819593G>A	uc001scx.2	+	5	822	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	AMHR2_uc009zmy.2_Missense_Mutation_p.E248K|AMHR2_uc021qyg.1_Missense_Mutation_p.E248K	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	248	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	p.E248K(2)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	AGCATTGTACGAACTTCCAGG	0.597000														39			9		0	0	0.000274275	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42363337	42363337	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:42363337G>A	uc001zox.3	-	16	1955	c.1860C>T	c.(1858-1860)gaC>gaT	p.D620D		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	620	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		AGGTGGAGAAGTCTTTGTGGC	0.637000														37			9		0	0	0.000673444	0	0
OIT3	170392	broad.mit.edu	37	10	74692132	74692132	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:74692132G>A	uc001jte.1	+	8	1706	c.1488G>A	c.(1486-1488)cgG>cgA	p.R496R	OIT3_uc009xqs.1_Non-coding_Transcript	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	Homo sapiens oncoprotein induced transcript 3 (OIT3), mRNA.	496	ZP.					nuclear envelope	calcium ion binding	p.R496L(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					TGCACTGCCGGGTTCTTGTCT	0.532000														94			38		0	0	0.00361006	0	0
MAP2K5	5607	broad.mit.edu	37	15	67878236	67878236	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:67878236C>T	uc002aqu.3	+	4	984	c.331C>T	c.(331-333)Cct>Tct	p.P111S	MAP2K5_uc002aqv.3_Missense_Mutation_p.P111S|MAP2K5_uc010ujw.2_Missense_Mutation_p.P75S	NM_145160	NP_660143	Q13163	MP2K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 5 (MAP2K5), transcript variant 1, mRNA.	111					nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						AGCCTGCAAGCCTCCTGGGGA	0.373000														59			12		0	0	0.00136819	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68044784	68044784	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:68044784G>A	uc001xjl.1	+	18	2761	c.2619G>A	c.(2617-2619)gtG>gtA	p.V873V	PLEKHH1_uc010tsw.1_Silent_p.V441V|PLEKHH1_uc001xjn.1_Silent_p.V388V|PLEKHH1_uc010tsx.1_5'Flank	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA.	873	MyTH4.					cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CTGCCTCGGTGGACTACCATG	0.602000														48			11		0	0	0.000673444	0	0
INF2	64423	broad.mit.edu	37	14	105174795	105174795	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:105174795C>T	uc001ypb.2	+	8	1901	c.1758C>T	c.(1756-1758)tcC>tcT	p.S586S	INF2_uc001ypc.2_Silent_p.S586S|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	586	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TGTGGGCGTCCCTGAGCAGCC	0.677000											OREG0022959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		40			21		0	0	0.00395357	0	0
MUC17	140453	broad.mit.edu	37	7	100693850	100693850	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:100693850G>A	uc003uxp.1	+	6	12861	c.12808G>A	c.(12808-12810)Gaa>Aaa	p.E4270K	MUC17_uc010lho.1_Intron	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4270	SEA.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.E4270K(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAATGCCACCGAAGTAGTGAA	0.463000														45			30		0	0	0.00127121	0	0
BAI2	576	broad.mit.edu	37	1	32196529	32196529	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:32196529G>C	uc001btn.3	-	28	4606	c.4252C>G	c.(4252-4254)Ccc>Gcc	p.P1418A	BAI2_uc010ogn.2_Missense_Mutation_p.P388A|BAI2_uc010ogo.2_Missense_Mutation_p.P1027A|BAI2_uc010ogp.2_Missense_Mutation_p.P1351A|BAI2_uc010ogq.2_Missense_Mutation_p.P1385A|BAI2_uc001bto.3_Missense_Mutation_p.P1418A|BAI2_uc001btp.1_Missense_Mutation_p.P412A	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	1418					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		ATTCCATAGGGATTCTGGAGA	0.677000														52			16		0	0	0.00121646	0	0
HNF1A	6927	broad.mit.edu	37	12	121437168	121437168	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:121437168G>A	uc001tzg.3	+	7	1622	c.1599G>A	c.(1597-1599)ctG>ctA	p.L533L	HNF1A_uc010szn.2_Silent_p.L533L|HNF1A_uc021rfa.1_Silent_p.L533L|HNF1A_uc021rfb.1_Silent_p.L405L|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	533					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGAGCGCCCTGGCCAGCCTCA	0.677000									Hepatic Adenoma, Familial Clustering of					101			69		0	0	0.00361006	0	0
TMC5	79838	broad.mit.edu	37	16	19455440	19455440	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:19455440C>T	uc002dgc.4	+	3	1575	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	TMC5_uc010vaq.2_Missense_Mutation_p.R276C|TMC5_uc002dgb.4_Missense_Mutation_p.R276C|TMC5_uc010var.2_Missense_Mutation_p.R276C	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	276						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCCCTCATTTCGTCACAGGAG	0.463000														67			34		0	0	0.000953801	0	0
RNF213	57674	broad.mit.edu	37	17	78247135	78247135	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:78247135C>T	uc002jyh.2	+	2	336	c.193C>T	c.(193-195)Ccg>Tcg	p.P65S	RNF213_uc002jyf.3_Missense_Mutation_p.P65S|RNF213_uc021uen.1_Missense_Mutation_p.P65S	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	65										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTGCTTGTTCCCGGGCTCAGA	0.602000														37			19		0	0	0.00074312	0	0
DEFB110	245913	broad.mit.edu	37	6	49989596	49989596	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:49989596G>A	uc003pac.3	-	0	99	c.53C>T	c.(52-54)cCa>cTa	p.P18L	DEFB110_uc011dwr.2_Missense_Mutation_p.P18L	NM_001037497	NP_001032586	Q30KQ9	DB110_HUMAN	Homo sapiens defensin, beta 110 locus (DEFB110), transcript variant 1, mRNA.	18					defense response to bacterium	extracellular region				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					CATATTACCTGGTAAAATTGT	0.303000														21			6		0	0	0.00116845	0	0
PLOD1	5351	broad.mit.edu	37	1	12034862	12034862	+	Silent	SNP	C	T	T	rs140741046		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:12034862C>T	uc010obb.2	+	19	2435	c.2322C>T	c.(2320-2322)ccC>ccT	p.P774P	PLOD1_uc001atm.3_Silent_p.P727P	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1), mRNA.	727					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCGTCGATCCCTAATTGGCCA	0.632000														19			27		0	0	0.0024448	0	0
RANBP3	8498	broad.mit.edu	37	19	5921218	5921218	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:5921218G>A	uc002mdw.3	-	13	1551	c.1324C>T	c.(1324-1326)Cga>Tga	p.R442*	RANBP3_uc002mdv.3_Nonsense_Mutation_p.R161*|RANBP3_uc002mdx.3_Nonsense_Mutation_p.R437*|RANBP3_uc002mdy.3_Nonsense_Mutation_p.R374*|RANBP3_uc002mdz.3_Nonsense_Mutation_p.R369*|RANBP3_uc010duq.3_Nonsense_Mutation_p.R347*|RANBP3_uc010xix.2_Nonsense_Mutation_p.R314*	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	Homo sapiens RAN binding protein 3 (RANBP3), transcript variant RANBP3-d, mRNA.	442	RanBD1.				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						TCACCTAGTCGGGACTGTAGT	0.617000														30			10		0	0	0.00185496	0	0
RCBTB2	1102	broad.mit.edu	37	13	49085947	49085947	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:49085947G>A	uc010tgg.2	-	7	1048	c.757C>T	c.(757-759)Cct>Tct	p.P253S	RCBTB2_uc001vci.3_Missense_Mutation_p.P224S|RCBTB2_uc010tgh.2_Silent_p.P21P|RCBTB2_uc001vch.3_Missense_Mutation_p.P248S|RCBTB2_uc001vcj.3_Missense_Mutation_p.P252S|RCBTB2_uc010acv.1_Non-coding_Transcript|RCBTB2_uc010tgi.1_Missense_Mutation_p.P224S	NM_001268	NP_001259	O95199	RCBT2_HUMAN	Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 (RCBTB2), mRNA.	248							Ran guanyl-nucleotide exchange factor activity	p.A253S(1)		breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		ACTCTGCAAGGGGTTGGCTGG	0.512000														24			17		0	0	0.00074312	0	0
ISOC2	79763	broad.mit.edu	37	19	55966676	55966676	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:55966676C>T	uc002qla.3	-	3	592	c.418G>A	c.(418-420)Gac>Aac	p.D140N	ISOC2_uc002qlb.3_Missense_Mutation_p.D124N|ISOC2_uc002qlc.3_Missense_Mutation_p.D54N	NM_024710	NP_078986	Q96AB3	ISOC2_HUMAN	Homo sapiens isochorismatase domain containing 2 (ISOC2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	124					protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding			endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		AGCCCCCGGTCTAGGAGGTCC	0.652000														11			17		0	0	0.000566183	0	0
CYP2A7	1549	broad.mit.edu	37	19	41386441	41386441	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:41386441C>T	uc002opm.3	-	2	978	c.436G>A	c.(436-438)Gag>Aag	p.E146K	CYP2A7_uc002opo.3_Missense_Mutation_p.E146K|CYP2A7_uc002opn.3_Missense_Mutation_p.E95K	NM_000764	NP_000755	P20853	CP2A7_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 7 (CYP2A7), transcript variant 1, mRNA.	146						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ATGCGCTCCTCGATGCCTCGC	0.662000														23			25		0	0	0.00106085	0	0
PCDH9	5101	broad.mit.edu	37	13	66879139	66879139	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:66879139C>T	uc001vik.3	-	4	4054	c.3362G>A	c.(3361-3363)gGa>gAa	p.G1121E	PCDH9_uc010aei.3_Non-coding_Transcript|PCDH9_uc001vil.3_Missense_Mutation_p.G1087E|PCDH9_uc010thl.2_Missense_Mutation_p.G1079E	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	1121					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTCAGCTAATCCTCGGGGACC	0.428000														0			6		0	0	0.00116845	0	0
GPR123	84435	broad.mit.edu	37	10	134898504	134898504	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:134898504C>T	uc001llw.3	+	7	1566	c.1566C>T	c.(1564-1566)cgC>cgT	p.R522R	GPR123_uc001llx.4_5'Flank			Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GTATCCTCCGCCTCTGCATCT	0.542000														79			27		0	0	0.00428921	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119134375	119134375	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:119134375T>C	uc003ecj.4	+	11	4131	c.3599T>C	c.(3598-3600)gTc>gCc	p.V1200A		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Homo sapiens Rho GTPase activating protein 31 (ARHGAP31), mRNA.	1200					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	p.A1199fs*106(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GCCAGGGCGGTCCCAGTCATC	0.582000														30			23		0	0	0.00332997	0	0
TTN	7273	broad.mit.edu	37	2	179599464	179599464	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:179599464C>T	uc021vsy.1	-	47	11680	c.11455G>A	c.(11455-11457)Gat>Aat	p.D3819N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D480N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4746							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCAGCTATCACTGCCGACG	0.353000														51			20		0	0	0.00395357	0	0
OR10K1	391109	broad.mit.edu	37	1	158435677	158435677	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:158435677C>T	uc010pij.2	+	0	326	c.326C>T	c.(325-327)tCc>tTc	p.S109F		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TTCTTTGGCTCCTCTCACTCC	0.517000														92			22		0	0	0.00395357	0	0
GTPBP4	23560	broad.mit.edu	37	10	1042121	1042121	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:1042121C>T	uc001ift.3	+	3	470	c.399C>T	c.(397-399)gcC>gcT	p.A133A	GTPBP4_uc010qac.1_5'UTR|GTPBP4_uc010qad.2_Silent_p.A17A|GTPBP4_uc010qae.2_Silent_p.A86A	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	Homo sapiens GTP binding protein 4 (GTPBP4), mRNA.	133					negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		AGCGTGCGGCCCTGGGACGGA	0.478000														18			4		0	0	0.00024832	0	0
KDM6B	23135	broad.mit.edu	37	17	7752023	7752023	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:7752023C>T	uc002gix.3	+	0	1160	c.323C>T	c.(322-324)tCc>tTc	p.S108F	KDM6B_uc002giw.1_Missense_Mutation_p.S806F	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	806					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CTGCTCAAATCCTTGGCCTCC	0.647000														16			26		0	0	0.000720815	0	0
SLX4	84464	broad.mit.edu	37	16	3640461	3640461	+	Missense_Mutation	SNP	G	A	A	rs144273492	byFrequency	TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:3640461G>A	uc002cvp.2	-	11	3805	c.3178C>T	c.(3178-3180)Cgg>Tgg	p.R1060W		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1060	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	p.R1060W(2)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCACGGGACCGGGGTGTTGAC	0.637000								Direct reversal of damage						85			46		0	0	0.00361006	0	0
RYR1	6261	broad.mit.edu	37	19	38934823	38934823	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:38934823C>T	uc002oit.3	+	5	589	c.459C>T	c.(457-459)tcC>tcT	p.S153S	RYR1_uc002oiu.3_Silent_p.S153S	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	153					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|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			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACCCAGCCTCCAAGCAGAGGT	0.587000														33			11		0	0	0.00185496	0	0
CALCRL	10203	broad.mit.edu	37	2	188225386	188225386	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:188225386G>A	uc010frt.3	-	8	1103	c.720C>T	c.(718-720)ctC>ctT	p.L240L	CALCRL_uc002upv.4_Silent_p.L240L	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	240						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			CCACCACAATGAGTGTGTGTA	0.403000														12			4		0	0	0.000602214	0	0
SSX8	280659	broad.mit.edu	37	X	52654604	52654604	+	RNA	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:52654604A>G	uc011moa.1	+	2		c.406A>G			SSX8_uc011mob.1_Non-coding_Transcript					Homo sapiens synovial sarcoma, X breakpoint 8 (SSX8), non-coding RNA.																		GAAAAGATGAAATACTCGGAG	0.378000														5			31		0	0	0.00327116	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208795654	208795654	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:208795654G>T	uc002vcl.2	-	4	2372	c.1882C>A	c.(1882-1884)Cgc>Agc	p.R628S	PLEKHM3_uc002vcm.2_Missense_Mutation_p.R628S	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.	628					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTTACCTGCGGCGGAGATCC	0.622000														30			40		6.68952e-21	1.53353e-20	0.00321405	1	0
PRAMEF4	400735	broad.mit.edu	37	1	12943122	12943122	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:12943122C>T	uc001aun.2	-	1	165	c.94G>A	c.(94-96)Gag>Aag	p.E32K		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	32										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGGCAGCTCCTCCAGGGTG	0.602000														80			6		0	0	0.00198382	0	0
PHGDH	26227	broad.mit.edu	37	1	120269632	120269633	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:120269632_120269633GG>TT	uc001ehz.3	+	4	644_645	c.417_418GG>TT	c.(415-420)atggga>atTTga	p.139_140MG>I*	PHGDH_uc009whl.3_Nonsense_Mutation_p.41_42MG>I*|PHGDH_uc009whm.3_Nonsense_Mutation_p.37_38MG>I*|PHGDH_uc001eib.3_Nonsense_Mutation_p.105_106MG>I*	NM_006623	NP_006614	O43175	SERA_HUMAN	Homo sapiens phosphoglycerate dehydrogenase (PHGDH), mRNA.	139					L-serine biosynthetic process|brain development		NAD binding|electron carrier activity|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	TGCAGTTCATGGGAACAGAGCT	0.559000														571			9		0	0	6.4e-05	0	0
RBM26	64062	broad.mit.edu	37	13	79908520	79908520	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:79908520G>A	uc001vkz.2	-	19	2799	c.2785C>T	c.(2785-2787)Cat>Tat	p.H929Y	RBM26_uc001vky.2_Missense_Mutation_p.H900Y|RBM26_uc001vla.2_Missense_Mutation_p.H903Y|RBM26_uc001vkx.2_Missense_Mutation_p.H639Y|RBM26_uc010tia.2_Missense_Mutation_p.H284Y	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	Homo sapiens RNA binding motif protein 26 (RBM26), mRNA.	927	RRM 2.				mRNA processing		RNA binding|nucleotide binding|protein binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		ATTACTGCATGAAGTGAGGAA	0.244000														49			9		0	0	0.000978159	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858202	9858202	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:9858202G>A	uc010uym.2	-	13	3509	c.3199C>T	c.(3199-3201)Cgg>Tgg	p.R1067W	GRIN2A_uc002czo.4_Missense_Mutation_p.R1067W|GRIN2A_uc010uyn.2_Missense_Mutation_p.R910W|GRIN2A_uc002czr.4_Missense_Mutation_p.R1067W	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1067					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R1067W(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CACGTGGCCCGATTTGACGTT	0.498000														93			66		0	0	0.00361006	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178553002	178553002	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:178553002G>A	uc003mjw.3	-	17	2849	c.2747C>T	c.(2746-2748)cCa>cTa	p.P916L		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	916	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CACTCACACTGGCTGGGAGCA	0.662000														20			14		0	0	0.00244969	0	0
BOD1L1	259282	broad.mit.edu	37	4	13603231	13603231	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:13603231T>G	uc003gmz.1	-	9	5410	c.5293A>C	c.(5293-5295)Aat>Cat	p.N1765H	BOD1L1_uc010idr.1_Missense_Mutation_p.N1102H	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	1765							DNA binding										GGTGCATCATTATCTCCCAGG	0.522000														423			9		0	0	0.000442599	0	0
SIPA1	6494	broad.mit.edu	37	11	65417654	65417654	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:65417654C>T	uc001ofb.2	+	13	3061	c.2894C>T	c.(2893-2895)tCt>tTt	p.S965F	SIPA1_uc010rom.1_Missense_Mutation_p.S863F|SIPA1_uc001ofd.2_Missense_Mutation_p.S965F	NM_006747	NP_694985	Q96FS4	SIPA1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA.	965					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						ACTCCAAAATCTGATGCTGAG	0.607000														82			17		0	0	0.00121646	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011267	105011267	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:105011267C>T	uc004elz.1	+	10	2430	c.1674C>T	c.(1672-1674)atC>atT	p.I558I		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	558	TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAATGCCCATCAAGAAAAAAG	0.428000														25			37		0	0	0.000953801	0	0
SPTBN4	57731	broad.mit.edu	37	19	41025348	41025348	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:41025348G>A	uc002ony.3	+	15	3030	c.2944G>A	c.(2944-2946)Gaa>Aaa	p.E982K	SPTBN4_uc002onx.3_Missense_Mutation_p.E982K|SPTBN4_uc002onz.3_Missense_Mutation_p.E982K|SPTBN4_uc010egx.3_5'UTR	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	982					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCGCAAAGAGGAAATGAGCGC	0.657000														17			15		0	0	0.00400662	0	0
KIF27	55582	broad.mit.edu	37	9	86465139	86465139	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:86465139C>T	uc004ana.3	-	15	3575	c.3431G>A	c.(3430-3432)cGg>cAg	p.R1144Q	KIF27_uc010mpw.3_Missense_Mutation_p.R1078Q|KIF27_uc010mpx.3_Missense_Mutation_p.R1047Q	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	Homo sapiens kinesin family member 27 (KIF27), mRNA.	1144					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CATATTATCCCGTTCCAGAAC	0.388000														29			40		0	0	0.00111076	0	0
TLE6	79816	broad.mit.edu	37	19	2989603	2989603	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:2989603A>G	uc002lwt.2	+	12	1173	c.1064A>G	c.(1063-1065)aAc>aGc	p.N355S	TLE6_uc002lwu.2_Missense_Mutation_p.N232S	NM_001143986	NP_079036	Q9H808	TLE6_HUMAN	Homo sapiens transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) (TLE6), transcript variant 1, mRNA.	232					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGGCTACAACCTGGCCAGC	0.652000														27			4		0	0	0.00024832	0	0
DNAH5	1767	broad.mit.edu	37	5	13788874	13788874	+	Silent	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:13788874T>C	uc003jfd.2	-	50	8640	c.8598A>G	c.(8596-8598)ggA>ggG	p.G2866G		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2866					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATGTGTCAATTCCACAATCCA	0.413000									Kartagener syndrome					52			12		0	0	0.00244969	0	0
GPR174	84636	broad.mit.edu	37	X	78427485	78427485	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:78427485C>T	uc004edg.1	+	0	1017	c.981C>T	c.(979-981)acC>acT	p.T327T		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA.	327						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CAGCTTCCACCATGACACCTG	0.408000										HNSCC(63;0.18)				8			12		0	0	0.00136819	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118051	118051	+	RNA	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrGL000205.1:118051C>T	uc002kgk.4	+	0		c.1429C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AGTCGGAGCCCTTTAGTTTTG	0.582000														67			5		0	0	0.000602214	0	0
PLA2G2F	64600	broad.mit.edu	37	1	20466686	20466686	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:20466686C>T	uc009vpp.1	+	1	242	c.144C>T	c.(142-144)ttC>ttT	p.F48F		NM_022819	NP_073730	Q9BZM2	PA2GF_HUMAN	Homo sapiens phospholipase A2, group IIF (PLA2G2F), mRNA.	5					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		AGAAGTTCTTCACCGTGGCCA	0.597000														25			30		0	0	0.0024448	0	0
CCNL2	81669	broad.mit.edu	37	1	1322837	1322837	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:1322837G>A	uc001afi.2	-	10	1369	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F	CCNL2_uc010nym.1_Non-coding_Transcript|CCNL2_uc001aff.1_Missense_Mutation_p.S224F|CCNL2_uc001afg.1_Missense_Mutation_p.S224F|CCNL2_uc001afj.2_Missense_Mutation_p.S224F	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	Homo sapiens cyclin L2 (CCNL2), transcript variant 1, mRNA.	446					RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	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)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GGACTTCCGGGAGCCCCGAAT	0.642000														15			10		0	0	0.000673444	0	0
TMEM176B	28959	broad.mit.edu	37	7	150488648	150488649	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:150488648_150488649CC>TT	uc022apx.1	-	5	909_910	c.783_784GG>AA	c.(781-786)agggag>agAAag	p.E262K	TMEM176B_uc003whu.4_Missense_Mutation_p.E262K|TMEM176B_uc003whv.4_Missense_Mutation_p.E225K|TMEM176B_uc003whw.4_Missense_Mutation_p.E262K	NM_014020	NP_054739	Q3YBM2	T176B_HUMAN	Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA.	262					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGGTCTGCTCCCTAGAGGGCG	0.569000														49			16		0	0	6.4e-05	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140263823	140263823	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140263823C>T	uc003lif.2	+	0	1970	c.1970C>T	c.(1969-1971)cCc>cTc	p.P657L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.P657L|PCDHAC2_uc003lid.3_Missense_Mutation_p.P657L	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	668	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.P657H(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGTGAGCCCGCGCTGACG	0.692000														39			5		0	0	0.00198382	0	0
ABCA9	10350	broad.mit.edu	37	17	66981089	66981089	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:66981089G>T	uc002jhu.3	-	33	4459	c.4316C>A	c.(4315-4317)cCg>cAg	p.P1439Q	ABCA9_uc010dez.3_Missense_Mutation_p.P1401Q	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1439	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity	p.P1439Q(2)|p.P1439P(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CACCACTGACGGGTTCCCCAG	0.592000														91			5		0.00116845	0.00263681	0.00116845	1	0
ZNF560	147741	broad.mit.edu	37	19	9577333	9577333	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:9577333C>T	uc002mlp.1	-	9	2500	c.2290G>A	c.(2290-2292)Gga>Aga	p.G764R	ZNF560_uc010dwr.1_Missense_Mutation_p.G658R	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	764					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GGTTTCTCTCCCATATGAGTT	0.443000														51			9		0	0	0.000274275	0	0
RPS4Y2	140032	broad.mit.edu	37	Y	22921930	22921930	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrY:22921930C>T	uc011nbb.2	+	2	354	c.258C>T	c.(256-258)ttC>ttT	p.F86F		NM_001039567	NP_001034656	Q8TD47	RS4Y2_HUMAN	Homo sapiens ribosomal protein S4, Y-linked 2 (RPS4Y2), mRNA.	86	S4 RNA-binding.				translation	ribosome	rRNA binding|structural constituent of ribosome			lung(2)	2						CTGCTGGATTCATAGGTAAGG	0.413000														25			40		0	0	0.00285205	0	0
NTRK1	4914	broad.mit.edu	37	1	156844394	156844394	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:156844394G>A	uc001fqh.1	+	9	1283	c.1227G>A	c.(1225-1227)gaG>gaA	p.E409E	NTRK1_uc001fqf.1_Silent_p.E373E|NTRK1_uc009wsi.1_Silent_p.E108E|NTRK1_uc001fqi.1_Silent_p.E403E|NTRK1_uc009wsk.1_Silent_p.E403E	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	409					Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	ACCCGGTGGAGAAGAAGGACG	0.547000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				16			17		0	0	0.00152264	0	0
OR4K2	390431	broad.mit.edu	37	14	20344713	20344713	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:20344713G>A	uc001vwh.1	+	0	287	c.287G>A	c.(286-288)gGc>gAc	p.G96D		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTTTTGATGGCTGCCTTACC	0.408000														51			28		0	0	0.00106085	0	0
TP53BP1	7158	broad.mit.edu	37	15	43713272	43713272	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:43713272G>A	uc001zrs.3	-	19	4334	c.4186C>T	c.(4186-4188)Cgt>Tgt	p.R1396C	TP53BP1_uc010udp.2_Missense_Mutation_p.R1396C|TP53BP1_uc001zrq.4_Missense_Mutation_p.R1401C|TP53BP1_uc001zrr.4_Missense_Mutation_p.R1401C|TP53BP1_uc010udq.1_Missense_Mutation_p.R1401C	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	1396					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CCACGCCCACGAGGCGTGACT	0.572000								Other conserved DNA damage response genes						67			39		0	0	0.00128727	0	0
TEX14	56155	broad.mit.edu	37	17	56692691	56692691	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:56692691C>T	uc010dcz.2	-	7	919	c.801G>A	c.(799-801)ggG>ggA	p.G267G	TEX14_uc002iwr.2_Silent_p.G261G|TEX14_uc002iws.2_Silent_p.G261G|TEX14_uc010dda.2_Silent_p.G41G	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	267	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGACCCTGCTCCCATTCCACA	0.527000														59			33		0	0	0.00283554	0	0
CDC20	991	broad.mit.edu	37	1	43825755	43825755	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:43825755C>T	uc001cix.3	+	4	644	c.543C>T	c.(541-543)atC>atT	p.I181I	CDC20_uc001ciy.3_Silent_p.I181I	NM_001255	NP_001246	Q12834	CDC20_HUMAN	Homo sapiens cell division cycle 20 homolog (S. cerevisiae) (CDC20), mRNA.	181					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CGCCTGAAATCCGAAATGACT	0.527000														164			68		0	0	0.00361006	0	0
DSC1	1823	broad.mit.edu	37	18	28710629	28710629	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr18:28710629C>T	uc002kwn.3	-	15	2795	c.2533G>A	c.(2533-2535)Gac>Aac	p.D845N	DSC1_uc002kwm.3_3'UTR|BC042382_uc002kwo.1_5'Flank	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	845					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CAAACGTAGTCTTCACAATGT	0.393000														17			12		0	0	0.00136819	0	0
ZNF664	144348	broad.mit.edu	37	12	124497191	124497191	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:124497191G>A	uc001ugb.3	+	4	1529	c.500G>A	c.(499-501)gGa>gAa	p.G167E	FAM101A_uc021rfy.1_Intron|ZNF664_uc001uga.3_Missense_Mutation_p.G167E|ZNF664_uc021rfz.1_Missense_Mutation_p.G167E	NM_152437	NP_689650	Q8N3J9	ZN664_HUMAN	Homo sapiens zinc finger protein 664 (ZNF664), transcript variant 1, mRNA.	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		GTCCACACAGGAGAGAAACCC	0.512000														115			25		0	0	0.000720815	0	0
CYP2E1	1571	broad.mit.edu	37	10	135350649	135350649	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:135350649G>A	uc001lnj.1	+	6	1083	c.1050G>A	c.(1048-1050)atG>atA	p.M350I	CYP2E1_uc001lnk.1_Missense_Mutation_p.M213I|CYP2E1_uc009ybl.1_Missense_Mutation_p.M151I|CYP2E1_uc009ybm.1_Missense_Mutation_p.M4I|CYP2E1_uc001lnl.1_Missense_Mutation_p.M151I	NM_000773	NP_000764	P05181	CP2E1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA.	350					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	TGCCCTACATGGATGCTGTGG	0.522000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					45			13		0	0	0.00136819	0	0
SSX8	280659	broad.mit.edu	37	X	52659354	52659354	+	RNA	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:52659354G>A	uc011moa.1	+	6		c.851G>A			SSX8_uc011mob.1_Non-coding_Transcript					Homo sapiens synovial sarcoma, X breakpoint 8 (SSX8), non-coding RNA.																		GGAAGGAAATGATTCGAAGGG	0.438000														42			79		0	0	0.00361006	0	0
C1orf210	149466	broad.mit.edu	37	1	43748570	43748570	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:43748570G>A	uc001cit.4	-	2	462	c.228C>T	c.(226-228)ggC>ggT	p.G76G	C1orf210_uc021omn.1_Silent_p.G76G	NM_182517	NP_872323	Q8IVY1	CA210_HUMAN	Homo sapiens chromosome 1 open reading frame 210 (C1orf210), transcript variant 1, mRNA.	76						integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCTGTGGGCGGCCTCCCCTTC	0.607000														50			21		0	0	0.00278032	0	0
SPIC	121599	broad.mit.edu	37	12	101876613	101876613	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:101876613C>T	uc001tid.3	+	4	413	c.254C>T	c.(253-255)tCt>tTt	p.S85F	SPIC_uc010svp.2_Missense_Mutation_p.S85F|SPIC_uc009zua.3_5'UTR|SPIC_uc021rcq.1_5'UTR	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN	Homo sapiens Spi-C transcription factor (Spi-1/PU.1 related) (SPIC), mRNA.	85						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q84Q(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						ATTCATCAATCTCTGCAGAAC	0.403000														114			79		0	0	0.00361006	0	0
DRD5	1816	broad.mit.edu	37	4	9784034	9784034	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:9784034C>T	uc003gmb.4	+	0	777	c.381C>T	c.(379-381)tcC>tcT	p.S127S		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	127					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CCACTGCCTCCATCCTGAACC	0.617000														38			7		0	0	0.000274275	0	0
ACOXL	55289	broad.mit.edu	37	2	111551682	111551682	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:111551682G>A	uc010yxk.1	+	4	500	c.276G>A	c.(274-276)atG>atA	p.M92I		NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	92					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TGTTTGCAATGACCGAGAGGG	0.557000														45			11		0	0	0.00185496	0	0
OR6C70	390327	broad.mit.edu	37	12	55863785	55863785	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:55863785G>A	uc010spn.2	-	0	138	c.138C>T	c.(136-138)ctC>ctT	p.L46L		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						CCAGCAGAATGAGGGCAATGA	0.388000														22			10		0	0	0.000673444	0	0
DSCAM	1826	broad.mit.edu	37	21	41559876	41559876	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:41559876G>A	uc002yyq.1	-	12	3044	c.2592C>T	c.(2590-2592)tcC>tcT	p.S864S	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	864	Ig-like C2-type 9.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TAGCATGGCAGGAAAAGAAAC	0.388000														34			10		0	0	0.000978159	0	0
SLC41A2	84102	broad.mit.edu	37	12	105322143	105322143	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:105322143C>T	uc001tla.3	-	0	330	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K		NM_032148	NP_115524	Q96JW4	S41A2_HUMAN	Homo sapiens solute carrier family 41, member 2 (SLC41A2), mRNA.	55						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						TGCCTGTCTTCTTGGTTTTTC	0.363000														10			3		0	0	6.4e-05	0	0
SLC12A8	84561	broad.mit.edu	37	3	124839505	124839505	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:124839505C>T	uc003ehw.4	-	6	919	c.849G>A	c.(847-849)ggG>ggA	p.G283G	SLC12A8_uc003ehv.4_Silent_p.G254G|SLC12A8_uc010hrz.1_Silent_p.G119G|SLC12A8_uc003eht.4_Silent_p.G55G|SLC12A8_uc010hry.3_Silent_p.G7G	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA.	254					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						TGAGGTCGCCCCCCATGTTGA	0.632000														9			11		0	0	0.000978159	0	0
ESYT3	83850	broad.mit.edu	37	3	138184193	138184193	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:138184193G>A	uc003esk.3	+	9	1325	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K	ESYT3_uc010hug.2_Non-coding_Transcript	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA.	367	C2 1.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CATGGTGTACGAAGTCCCTGG	0.557000														122			50		0	0	0.00361006	0	0
OR2L2	26246	broad.mit.edu	37	1	248202403	248202403	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:248202403C>T	uc001idw.3	+	0	930	c.834C>T	c.(832-834)acC>acT	p.T278T	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTTTCTACACCATCCTCACCC	0.473000														50			27		0	0	0.00127121	0	0
POTED	317754	broad.mit.edu	37	21	14983034	14983034	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:14983034G>A	uc002yjb.1	+	0	537	c.485G>A	c.(484-486)aGg>aAg	p.R162K		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.	162						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						GTCATGCTCAGGGACACTGAC	0.572000														15			28		0	0	0.00195071	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60036029	60036029	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr18:60036029G>A	uc002lin.3	+	8	917	c.879G>A	c.(877-879)aaG>aaA	p.K293K	TNFRSF11A_uc010dpv.3_Intron	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.	293					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of fever generation by positive regulation of prostaglandin secretion|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				TGGAGGAGAAGACATTTCCAG	0.532000														62			4		0	0	0.00024832	0	0
LGR6	59352	broad.mit.edu	37	1	202287604	202287604	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:202287604G>A	uc001gxu.3	+	17	2173	c.2173G>A	c.(2173-2175)Ggt>Agt	p.G725S	LGR6_uc001gxv.3_Missense_Mutation_p.G673S|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Missense_Mutation_p.G586S	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	725			G -> C (in a colorectal cancer sample; somatic mutation).			integral to membrane|plasma membrane	protein-hormone receptor activity	p.G725C(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GCCACCTGAGGGTCAGCCAGC	0.657000														11			18		0	0	0.00152264	0	0
OR51B4	79339	broad.mit.edu	37	11	5322336	5322336	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:5322336G>A	uc010qza.2	-	0	841	c.841C>T	c.(841-843)Cct>Tct	p.P281S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA.	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACGAATGGAGGAAAGAGAAAA	0.428000														30			4		0	0	0.000602214	0	0
EMB	133418	broad.mit.edu	37	5	49706745	49706745	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:49706745C>T	uc003jom.3	-	3	687	c.438G>A	c.(436-438)gaG>gaA	p.E146E	EMB_uc003jol.3_Silent_p.E77E|EMB_uc011cpy.2_Silent_p.E96E	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	Homo sapiens embigin (EMB), mRNA.	146	Ig-like V-type 1.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				GTTCCTTTTCCTCTCGAAAGA	0.303000														24			5		0	0	0.00198382	0	0
C16orf58	64755	broad.mit.edu	37	16	31508266	31508266	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:31508266G>A	uc002eci.2	-	5	618	c.606C>T	c.(604-606)atC>atT	p.I202I	C16orf58_uc010vfq.1_Silent_p.I60I	NM_022744	NP_073581	Q96GQ5	CP058_HUMAN	Homo sapiens chromosome 16 open reading frame 58 (C16orf58), mRNA.	202						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						CAACACTCACGATGCACTGGG	0.617000														16			9		0	0	0.00136819	0	0
ZNF423	23090	broad.mit.edu	37	16	49671166	49671166	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:49671166G>A	uc002efs.3	-	4	2195	c.1897C>T	c.(1897-1899)Cct>Tct	p.P633S	ZNF423_uc010vgn.2_Missense_Mutation_p.P516S	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	633					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGATTGCAAGGATACTCCCCA	0.597000														50			23		0	0	0.000720815	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40698	40698	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrGL000218.1:40698G>A	uc011mfn.2	-	2	321	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	LOC100233156_uc003jah.2_Missense_Mutation_p.R78C					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		TCACAGCGGCGCCCGAAGGCC	0.672000														9			6		0	0	0.00198382	0	0
MDN1	23195	broad.mit.edu	37	6	90387356	90387356	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:90387356G>A	uc003pnn.1	-	75	12588	c.12472C>T	c.(12472-12474)Cat>Tat	p.H4158Y		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	4158					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGGTGAAGATGAAGCATCTCT	0.428000														57			20		0	0	0.00121646	0	0
TSLP	85480	broad.mit.edu	37	5	110407594	110407594	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:110407594C>T	uc003kpb.2	+	0	205	c.6C>T	c.(4-6)ttC>ttT	p.F2F	TSLP_uc003kpa.2_Intron	NM_033035	NP_149024	Q969D9	TSLP_HUMAN	Homo sapiens thymic stromal lymphopoietin (TSLP), transcript variant 1, mRNA.	2				MFPFALLYVLS -> MKCLGQSKKEE (in Ref. 3; AAH40592).		extracellular space	cytokine activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		CACGTATGTTCCCTTTTGCCT	0.448000														64			15		0	0	0.00316338	0	0
DPF3	8110	broad.mit.edu	37	14	73190413	73190413	+	Silent	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:73190413A>G	uc001xnc.2	-	4	466	c.453T>C	c.(451-453)aaT>aaC	p.N151N	DPF3_uc001xnd.1_Non-coding_Transcript|DPF3_uc001xnf.2_Non-coding_Transcript|DPF3_uc010ari.1_Silent_p.N151N|DPF3_uc010ttq.1_Silent_p.N161N	NM_012074	NP_036206	Q92784	DPF3_HUMAN	Homo sapiens D4, zinc and double PHD fingers, family 3 (DPF3), mRNA.	151					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTTCTTCTACATTTTCATCAT	0.388000														101			58		0	0	0.00361006	0	0
OR3A1	4994	broad.mit.edu	37	17	3195632	3195632	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:3195632G>A	uc002fvh.1	-	0	245	c.245C>T	c.(244-246)cCa>cTa	p.P82L		NM_002550	NP_002541	P47881	OR3A1_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 1 (OR3A1), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						CAACATTGATGGAACAGTGAC	0.562000														22			15		0	0	0.00400662	0	0
ACP6	51205	broad.mit.edu	37	1	147120214	147120214	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:147120214C>T	uc001epr.2	-	9	1442	c.978_splice	c.e9-1	p.R326_splice		NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	Homo sapiens acid phosphatase 6, lysophosphatidic (ACP6), mRNA.	326					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					ATACAGCTTTCTGCAAGAGGA	0.493000														49			26		0	0	0.000878237	0	0
PCDHB18	54660	broad.mit.edu	37	5	140616176	140616176	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140616176G>A	uc003ljc.1	+	0	2239	c.1891G>A	c.(1891-1893)Gac>Aac	p.D631N						Homo sapiens protocadherin beta 18 pseudogene (PCDHB18), non-coding RNA.											endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GGCCCAGGCCGACTCCCTCAC	0.687000														66			16		0	0	0.000566183	0	0
VTI1A	143187	broad.mit.edu	37	10	114427985	114427985	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:114427985G>A	uc001kzz.3	+	5	812	c.436G>A	c.(436-438)Ggt>Agt	p.G146S	VTI1A_uc001kzy.3_Missense_Mutation_p.G146S	NM_145206	NP_660207	Q96AJ9	VTI1A_HUMAN	Homo sapiens vesicle transport through interaction with t-SNAREs homolog 1A (yeast) (VTI1A), mRNA.	146					intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	SNAP receptor activity|protein transporter activity		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		AGAGCAAATTGGTCAGGAGAT	0.343000			T	TCF7L2	colorectal									15			4		0	0	0.00024832	0	0
UTP3	57050	broad.mit.edu	37	4	71555661	71555661	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:71555661C>T	uc003hfo.3	+	0	1466	c.1267C>T	c.(1267-1269)Cct>Tct	p.P423S		NM_020368	NP_065101	Q9NQZ2	SAS10_HUMAN	Homo sapiens UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) (UTP3), mRNA.	423					brain development|chromatin modification|gene silencing	nucleolus				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			GGGACTTACTCCTAGGAGAAA	0.393000														40			37		0	0	0.00128727	0	0
TRAK1	22906	broad.mit.edu	37	3	42264721	42264721	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:42264721C>T	uc003cky.3	+	15	2570	c.2354C>T	c.(2353-2355)tCg>tTg	p.S785L	TRAK1_uc011azi.2_Missense_Mutation_p.S764L	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	785					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CCGCCGAACTCGCCTATGCAG	0.632000														29			21		0	0	0.00278032	0	0
TTN	7273	broad.mit.edu	37	2	179585898	179585898	+	Silent	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:179585898A>G	uc021vsy.1	-	75	19341	c.19116T>C	c.(19114-19116)gcT>gcC	p.A6372A	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.A3033A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7299	Ig-like 45.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAACTTTTGAAGCTTCTAATT	0.353000														8			3		0	0	6.4e-05	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178540948	178540948	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:178540948G>A	uc003mjw.3	-	21	3658	c.3556C>T	c.(3556-3558)Ccc>Tcc	p.P1186S		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	1186					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TTTTCATAGGGGCTCGGTCGT	0.463000														65			72		0	0	0.00361006	0	0
COL3A1	1281	broad.mit.edu	37	2	189861133	189861133	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:189861133G>A	uc002uqj.1	+	23	1789	c.1672G>A	c.(1672-1674)Gga>Aga	p.G558R		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	558	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGGAAGTCAAGGAGAAAGTGG	0.438000														21			13		0	0	0.00185496	0	0
TNC	3371	broad.mit.edu	37	9	117808887	117808887	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:117808887C>T	uc004bjj.4	-	16	5339	c.4927G>A	c.(4927-4929)Gat>Aat	p.D1643N	TNC_uc010mvf.3_Intron|TNC_uc022bmj.1_Missense_Mutation_p.D1280N	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1643	Fibronectin type-III 12.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ACCCCTTCATCAGCTGTCCAG	0.502000														22			28		0	0	0.00127121	0	0
SCAND3	114821	broad.mit.edu	37	6	28543259	28543259	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:28543259G>A	uc003nlo.3	-	2	1841	c.1223C>T	c.(1222-1224)tCa>tTa	p.S408L		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	408	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						AGACTTTAATGACCGCAAAAA	0.378000														28			14		0	0	0.00185496	0	0
ZNF528	84436	broad.mit.edu	37	19	52919202	52919202	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:52919202C>T	uc002pzh.3	+	6	1523	c.1097C>T	c.(1096-1098)tCc>tTc	p.S366F	ZNF528_uc002pzi.3_Missense_Mutation_p.S133F	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	Homo sapiens zinc finger protein 528 (ZNF528), mRNA.	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TCAGTGCGTTCCAGCCTCATA	0.418000														51			13		0	0	0.00185496	0	0
ITGB6	3694	broad.mit.edu	37	2	160958171	160958171	+	RNA	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:160958171A>G	uc002ubg.3	-	0		c.88T>C						P18564	ITB6_HUMAN	Homo sapiens cDNA: FLJ23083 fis, clone LNG06541, highly similar to IR2005735 Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 2005735.						cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TTTTGAAGCAACAAAGAGAAA	0.333000														3			3		0	0	6.4e-05	0	0
ALKBH6	84964	broad.mit.edu	37	19	36504285	36504285	+	Silent	SNP	G	A	A	rs148155004		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:36504285G>A	uc002ocv.1	-	1	105	c.99C>T	c.(97-99)gaC>gaT	p.D33D	ALKBH6_uc002ocw.1_Silent_p.D33D|ALKBH6_uc002ocx.1_5'UTR|ALKBH6_uc010eeo.1_Silent_p.D5D|ALKBH6_uc010eep.1_Silent_p.D33D|BC071809_uc002ocy.3_5'Flank	NM_032878	NP_116267	Q3KRA9	ALKB6_HUMAN	Homo sapiens alkB, alkylation repair homolog 6 (E. coli) (ALKBH6), transcript variant 2, mRNA.	5						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGACTCTGGCGTCCTGCTCCT	0.572000														53			44		0	0	0.00361006	0	0
P4HA3	283208	broad.mit.edu	37	11	73997402	73997402	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:73997402C>T	uc010rrj.2	-	5	847	c.804G>A	c.(802-804)ttG>ttA	p.L268L	P4HA3_uc001ouy.4_Non-coding_Transcript|P4HA3_uc001ouz.3_Silent_p.L268L			Q7Z4N8	P4HA3_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide III (P4HA3), mRNA.	268						endoplasmic reticulum lumen	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					TTTCATATTTCAAGACATTCC	0.507000														113			7		0	0	0.00307968	0	0
OR8K5	219453	broad.mit.edu	37	11	55927452	55927452	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:55927452G>A	uc010rja.2	-	0	342	c.342C>T	c.(340-342)atC>atT	p.I114I		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA.	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TGGCTGACAGGATGAAAAATT	0.423000														30			33		0	0	0.00327116	0	0
ZNF718	255403	broad.mit.edu	37	4	60001	60001	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:60001G>A	uc003fzv.1	+	2	337	c.181G>A	c.(181-183)Gag>Aag	p.E61K	ZNF718_uc003fzt.4_Missense_Mutation_p.E61K|ZNF718_uc003fzu.1_Non-coding_Transcript|ZNF718_uc010iay.1_Non-coding_Transcript|ZNF718_uc011bus.1_Intron|ZNF718_uc011but.1_Intron	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		GCAAATAAAAGAGCCCTGCAA	0.448000														134			5		0	0	0.000602214	0	0
ODZ3	55714	broad.mit.edu	37	4	183600989	183600989	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:183600989G>A	uc003ivd.1	+	6	1572	c.1497G>A	c.(1495-1497)ggG>ggA	p.G499G	ODZ3_uc003ive.1_5'Flank	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	499					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		ATAATGATGGGAAAAATGCAG	0.448000														10			17		0	0	0.00074312	0	0
HSP90B1	7184	broad.mit.edu	37	12	104326062	104326062	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:104326062G>A	uc001tkb.1	+	2	265	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	HSP90B1_uc010swg.1_Intron|HSP90B1_uc009zui.1_Missense_Mutation_p.E54K|GNN_uc010swf.2_5'Flank|GNN_uc009zuh.2_5'Flank	NM_003299	NP_003290	P14625	ENPL_HUMAN	Homo sapiens heat shock protein 90kDa beta (Grp94), member 1 (HSP90B1), mRNA.	54					ER-associated protein catabolic process|actin rod assembly|anti-apoptosis|cellular response to ATP|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|RNA binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	TAGAGAGGAAGAAGCTATTCA	0.383000														37			10		0	0	0.000442599	0	0
MUC16	94025	broad.mit.edu	37	19	9074913	9074913	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:9074913G>A	uc002mkp.3	-	2	12737	c.12533C>T	c.(12532-12534)tCa>tTa	p.S4178L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4180	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGCCCTTGTGATGTCAACAA	0.517000														58			15		0	0	0.00316338	0	0
HMG20A	10363	broad.mit.edu	37	15	77756592	77756592	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:77756592C>T	uc002bcr.3	+	3	301	c.100C>T	c.(100-102)Cca>Tca	p.P34S	HMG20A_uc002bcq.1_Missense_Mutation_p.P34S|HMG20A_uc002bcs.3_Missense_Mutation_p.P34S	NM_018200	NP_060670	Q9NP66	HM20A_HUMAN	Homo sapiens high mobility group 20A (HMG20A), mRNA.	34					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GTTAAATCACCCAGAGGTTCC	0.423000														40			4		0	0	0.000602214	0	0
CHST4	10164	broad.mit.edu	37	16	71570936	71570936	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:71570936G>A	uc021tkt.1	+	0	356	c.356G>A	c.(355-357)aGa>aAa	p.R119K	CHST4_uc002fan.3_Missense_Mutation_p.R119K|CHST4_uc002fao.3_Missense_Mutation_p.R119K	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	119					N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						GGTCCCCGGAGACAGTCCAGC	0.587000														51			22		0	0	0.00332997	0	0
ZNF253	56242	broad.mit.edu	37	19	20002699	20002699	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:20002699C>T	uc002noj.3	+	3	735	c.643C>T	c.(643-645)Ctt>Ttt	p.L215F	ZNF253_uc002nok.3_Missense_Mutation_p.L139F|ZNF253_uc002nol.3_Non-coding_Transcript	NM_021047	NP_066385	O75346	ZN253_HUMAN	Homo sapiens zinc finger protein 253 (ZNF253), mRNA.	215					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATCTGCAAACCTTACTACACA	0.388000														27			12		0	0	0.000978159	0	0
C12orf50	160419	broad.mit.edu	37	12	88383123	88383123	+	Silent	SNP	C	T	T	rs146612959		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:88383123C>T	uc001tam.1	-	7	786	c.618G>A	c.(616-618)agG>agA	p.R206R	C12orf50_uc001tan.3_Silent_p.R260R	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	206										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						GAAATATGACCCTCTGTGGAA	0.343000														18			10		0	0	0.000442599	0	0
MXRA5	25878	broad.mit.edu	37	X	3241350	3241350	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:3241350C>T	uc004crg.4	-	4	2533	c.2376G>A	c.(2374-2376)ggG>ggA	p.G792G		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	792						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGAGATTTTTCCCACGGACTT	0.453000														12			19		0	0	0.00121646	0	0
T	6862	broad.mit.edu	37	6	166571865	166571865	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:166571865C>T	uc003qut.1	-	7	1535	c.1249G>A	c.(1249-1251)Gac>Aac	p.D417N	T_uc003quu.1_Missense_Mutation_p.D416N|T_uc003quv.1_Missense_Mutation_p.D358N	NM_003181	NP_003172	O15178	BRAC_HUMAN	Homo sapiens T, brachyury homolog (mouse) (T), mRNA.	416					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	p.A417S(1)|p.A417V(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GCTGCGGCGTCGTACTGGCTG	0.637000									Chordoma, Familial Clustering of					96			56		0	0	0.00361006	0	0
HERC2	8924	broad.mit.edu	37	15	28424160	28424160	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:28424160C>T	uc001zbj.3	-	58	9142	c.9036G>A	c.(9034-9036)aaG>aaA	p.K3012K		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3012					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGGCATACACCTTCCCTTCCA	0.517000														47			4		0	0	0.000602214	0	0
OSCAR	126014	broad.mit.edu	37	19	54600214	54600214	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:54600214C>T	uc002qdd.3	-	3	500	c.383G>A	c.(382-384)cGa>cAa	p.R128Q	OSCAR_uc002qcy.3_Missense_Mutation_p.R107Q|OSCAR_uc002qcz.3_Missense_Mutation_p.R103Q|OSCAR_uc002qda.3_Missense_Mutation_p.R107Q|OSCAR_uc002qdb.3_Missense_Mutation_p.R92Q|OSCAR_uc010erc.3_Silent_p.P70P|OSCAR_uc002qdc.3_Missense_Mutation_p.R117Q|OSCAR_uc021vbh.1_5'Flank	NM_206818	NP_996554	Q8IYS5	OSCAR_HUMAN	Homo sapiens osteoclast associated, immunoglobulin-like receptor (OSCAR), transcript variant 1, mRNA.	103	Ig-like 2.					extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					GTCTGGCCTTCGGTAGCAGCA	0.632000														31			7		0	0	0.00307968	0	0
CYP2C8	1558	broad.mit.edu	37	10	96802710	96802710	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:96802710G>A	uc001kkb.3	-	6	1181	c.1086C>T	c.(1084-1086)gtC>gtT	p.V362V	CYP2C8_uc010qoa.2_Silent_p.V292V|CYP2C8_uc010qoc.2_Silent_p.V260V|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Silent_p.V276V|CYP2C8_uc021pwl.1_Silent_p.V292V|CYP2C8_uc010qod.1_Silent_p.V276V	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	362					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CACCGGTGGGGACAAGGTCAC	0.488000														55			5		0	0	0.000602214	0	0
RXFP2	122042	broad.mit.edu	37	13	32366846	32366846	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:32366846C>T	uc001utt.3	+	15	1478	c.1407C>T	c.(1405-1407)ttC>ttT	p.F469F	RXFP2_uc010aba.3_Silent_p.F445F	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	469						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TTTACTTGTTCTTTGTTGGCA	0.453000														82			13		0	0	0.00400662	0	0
LOC440040	440040	broad.mit.edu	37	11	49598034	49598034	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:49598034C>T	uc010rhy.2	+	1	625	c.147C>T	c.(145-147)atC>atT	p.I49I	LOC440040_uc009ymb.3_Silent_p.I49I					Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA.																		TGGAAAGGATCAATTCAGACC	0.532000														9			5		0	0	0.00116845	0	0
USP34	9736	broad.mit.edu	37	2	61415732	61415732	+	Silent	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:61415732T>C	uc002sbe.3	-	79	10168	c.10146A>G	c.(10144-10146)ccA>ccG	p.P3382P	USP34_uc002sbd.3_Silent_p.P184P	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	3382					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.T3381A(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AAGTGCTCGTTGGGGTCAGGA	0.468000														48			34		0	0	0.00111076	0	0
HIVEP2	3097	broad.mit.edu	37	6	143091163	143091163	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:143091163G>A	uc003qjd.3	-	4	5456	c.4713C>T	c.(4711-4713)atC>atT	p.I1571I		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	1571	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I1571I(2)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CCGTCTCATCGATATCTAATT	0.547000														102			31		0	0	0.00283554	0	0
ODZ1	10178	broad.mit.edu	37	X	123699397	123699397	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:123699397C>T	uc010nqy.3	-	11	2155	c.2091G>A	c.(2089-2091)atG>atA	p.M697I	ODZ1_uc011muj.2_Missense_Mutation_p.M696I|ODZ1_uc004euj.3_Missense_Mutation_p.M697I	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	697	EGF-like 6.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TACCACACTCCATGGTACACA	0.408000														1			5		0	0	0.000602214	0	0
GCOM1	145781	broad.mit.edu	37	15	57925814	57925814	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:57925814G>A	uc002aei.3	+	7	939	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	GCOM1_uc002aej.3_Missense_Mutation_p.E270K|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Missense_Mutation_p.E270K|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Missense_Mutation_p.E270K	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	270					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						TTTGCAGGAAGAAACCAATAG	0.473000														66			16		0	0	0.000958276	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68029204	68029204	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:68029204C>T	uc001xjl.1	+	6	998	c.856C>T	c.(856-858)Ctg>Ttg	p.L286L		NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA.	286						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GGGTGAGGGTCTGGTTACTGC	0.582000														20			12		0	0	0.00185496	0	0
ADAM18	8749	broad.mit.edu	37	8	39468132	39468132	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:39468132G>A	uc003xni.3	+	5	484	c.429G>A	c.(427-429)atG>atA	p.M143I	ADAM18_uc003xnh.3_Missense_Mutation_p.M143I|ADAM18_uc010lww.3_Intron|ADAM18_uc010lwx.3_Missense_Mutation_p.M143I	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	143					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTTATCAAATGAAAAATAATG	0.333000														29			11		0	0	0.000673444	0	0
SAMD7	344658	broad.mit.edu	37	3	169644830	169644830	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:169644830G>A	uc003fgd.3	+	5	1047	c.780G>A	c.(778-780)agG>agA	p.R260R	SAMD7_uc003fge.3_Silent_p.R260R|SAMD7_uc011bpo.2_Silent_p.R161R	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	260										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			CCACCCATAGGAAACCCTGGG	0.522000														56			20		0	0	0.00278032	0	0
SKAP2	8935	broad.mit.edu	37	7	26883666	26883666	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:26883666T>C	uc003syc.3	-	3	583	c.290A>G	c.(289-291)gAt>gGt	p.D97G	SKAP2_uc011jzi.2_5'UTR|SKAP2_uc011jzj.2_Missense_Mutation_p.D82G	NM_003930	NP_003921	O75563	SKAP2_HUMAN	Homo sapiens src kinase associated phosphoprotein 2 (SKAP2), mRNA.	97					B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						GGGGGCTTCATCGTCTTTATC	0.413000														123			43		0	0	0.00361006	0	0
TM9SF3	56889	broad.mit.edu	37	10	98303926	98303926	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:98303926G>A	uc001kmm.4	-	8	1309	c.1092C>T	c.(1090-1092)ttC>ttT	p.F364F		NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	Homo sapiens transmembrane 9 superfamily member 3 (TM9SF3), mRNA.	364						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		CTGGGATAAGGAATGCCCCAA	0.353000														39			9		0	0	0.000673444	0	0
NELL1	4745	broad.mit.edu	37	11	20939776	20939776	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:20939776A>G	uc009yid.3	+	6	889	c.736A>G	c.(736-738)Aca>Gca	p.T246A	NELL1_uc010rdp.2_Intron|NELL1_uc001mqe.3_Missense_Mutation_p.T218A|NELL1_uc001mqf.3_Missense_Mutation_p.T218A|NELL1_uc010rdo.2_Missense_Mutation_p.T161A	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	218					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TGGATATATAACACAGTGTCC	0.353000														16			6		0	0	0.00307968	0	0
STARD4	134429	broad.mit.edu	37	5	110835784	110835784	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:110835784C>T	uc003kph.1	-	5	502	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	STARD4_uc010jbw.1_Missense_Mutation_p.E42K|STARD4_uc010jbx.1_Missense_Mutation_p.E42K|STARD4_uc003kpi.1_Non-coding_Transcript	NM_139164	NP_631903	Q96DR4	STAR4_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 4 (STARD4), mRNA.	140	START.				lipid transport		lipid binding	p.D139H(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		GGTCTCTTTTCATCCCAGTCA	0.333000														20			12		0	0	0.00316338	0	0
SSX8	280659	broad.mit.edu	37	X	52659323	52659323	+	RNA	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:52659323C>T	uc011moa.1	+	6		c.820C>T			SSX8_uc011mob.1_Non-coding_Transcript					Homo sapiens synovial sarcoma, X breakpoint 8 (SSX8), non-coding RNA.																		TTATAAAGATCATGCCCAAGA	0.448000														47			87		0	0	0.00361006	0	0
PTK2B	2185	broad.mit.edu	37	8	27255255	27255255	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:27255255C>T	uc003xfn.2	+	6	962	c.154C>T	c.(154-156)Cct>Tct	p.P52S	PTK2B_uc022ate.1_Missense_Mutation_p.P52S|PTK2B_uc003xfp.2_Missense_Mutation_p.P52S|PTK2B_uc003xfq.2_Missense_Mutation_p.P52S	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	52	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CAGCTTCAATCCTGGGAAAAA	0.517000														54			17		0	0	0.00400662	0	0
ZNF668	79759	broad.mit.edu	37	16	31073569	31073569	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:31073569G>A	uc021tgt.1	-	3	1105	c.749C>T	c.(748-750)tCc>tTc	p.S250F	ZNF668_uc010cag.2_Missense_Mutation_p.S227F|ZNF668_uc010caf.3_Missense_Mutation_p.S227F|ZNF668_uc002eao.3_Missense_Mutation_p.S227F	NM_001172669	NP_078982	Q96K58	ZN668_HUMAN	Homo sapiens zinc finger protein 668 (ZNF668), transcript variant 3, mRNA.	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CCCGCACTCGGAGCAGAGGAA	0.682000														45			21		0	0	0.000720815	0	0
BZRAP1	9256	broad.mit.edu	37	17	56404061	56404061	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:56404061C>T	uc002ivx.4	-	1	1295	c.424G>A	c.(424-426)Gag>Aag	p.E142K	BZRAP1_uc010dcs.3_Missense_Mutation_p.E142K|BZRAP1_uc010wnt.2_Missense_Mutation_p.E142K|LOC100506779_uc021uan.1_Intron|LOC100506779_uc010dct.2_5'Flank|LOC100506779_uc010dcu.2_5'Flank|LOC100506779_uc021uao.1_5'Flank	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	142						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGTTTTCCTCCTTAAGGATG	0.617000														58			23		0	0	0.000878237	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30688370	30688370	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:30688370G>A	uc010gvu.3	-	8	1627	c.1542C>T	c.(1540-1542)taC>taT	p.Y514Y	TBC1D10A_uc003ahd.3_5'Flank|TBC1D10A_uc003ahf.3_Intron|TBC1D10A_uc003ahg.3_Intron|TBC1D10A_uc003ahh.3_Intron|TBC1D10A_uc003ahi.3_Intron|TBC1D10A_uc010gvq.3_Intron|TBC1D10A_uc010gvr.3_5'Flank|TBC1D10A_uc010gvs.2_5'Flank|TBC1D10A_uc003ahk.4_Silent_p.Y507Y	NM_001204240	NP_001191169	Q9BXI6	TB10A_HUMAN	Homo sapiens TBC1 domain family, member 10A (TBC1D10A), transcript variant 1, mRNA.	507						intracellular|microvillus	PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity	p.Y507Y(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						AGGGTTACAAGTAGGTGTCCT	0.597000														155			75		0	0	0.00361006	0	0
PDE11A	50940	broad.mit.edu	37	2	178592807	178592807	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:178592807G>A	uc002ulq.3	-	10	2200	c.1882C>T	c.(1882-1884)Ctc>Ttc	p.L628F	PDE11A_uc002ulp.3_Missense_Mutation_p.L184F|PDE11A_uc002ulr.3_Missense_Mutation_p.L378F|PDE11A_uc002uls.1_Missense_Mutation_p.L270F|PDE11A_uc002ult.1_Missense_Mutation_p.L378F|PDE11A_uc002ulu.1_Missense_Mutation_p.L270F	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	628					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			AACATCCGGAGAGCAGCTGTG	0.463000									Primary Pigmented Nodular Adrenocortical Disease, Familial					5			7		0	0	0.00198382	0	0
LILRB1	10859	broad.mit.edu	37	19	55146159	55146159	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:55146159C>T	uc002qgj.3	+	10	1768	c.1428C>T	c.(1426-1428)ctC>ctT	p.L476L	LILRB1_uc010erp.1_Silent_p.L91L|LILRB1_uc002qgl.3_Silent_p.L476L|LILRB1_uc002qgk.3_Silent_p.L477L|LILRB1_uc002qgm.3_Silent_p.L477L|LILRB1_uc010erq.3_Silent_p.L460L|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	476					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		tcctcctcctcctcctcctct	0.607000										HNSCC(37;0.09)				23			25		0	0	0.00278032	0	0
NLRP12	91662	broad.mit.edu	37	19	54327271	54327271	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:54327271G>A	uc002qcj.4	-	0	378	c.158C>T	c.(157-159)cCc>cTc	p.P53L	NLRP12_uc002qch.4_Missense_Mutation_p.P53L|NLRP12_uc002qci.4_Missense_Mutation_p.P53L|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.P53L	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	53	DAPIN.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CATTTCCAGGGGACCGGCCTT	0.592000														52			13		0	0	0.00244969	0	0
ALB	213	broad.mit.edu	37	4	74280794	74280794	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:74280794C>T	uc003hgs.4	+	8	1174	c.1101C>T	c.(1099-1101)gtC>gtT	p.V367V	ALB_uc011cbe.2_Silent_p.V46V|ALB_uc003hgw.4_Silent_p.V175V|ALB_uc011cbf.2_Silent_p.V257V	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	367	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	ATTACTCTGTCGTGCTGCTGC	0.393000														28			28		0	0	0.000878237	0	0
SFMBT1	51460	broad.mit.edu	37	3	52946618	52946618	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:52946618G>A	uc003dgf.3	-	16	2289	c.1666C>T	c.(1666-1668)Ctt>Ttt	p.L556F	SFMBT1_uc010hmr.3_Missense_Mutation_p.L503F|SFMBT1_uc003dgg.3_Missense_Mutation_p.L556F|SFMBT1_uc003dgh.3_Missense_Mutation_p.L556F	NM_001005159	NP_057413	Q9UHJ3	SMBT1_HUMAN	Homo sapiens Scm-like with four mbt domains 1 (SFMBT1), transcript variant 1, mRNA.	556					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		AGCTCCCGAAGGACACGGCTG	0.463000														69			26		0	0	0.001512	0	0
RGNEF	64283	broad.mit.edu	37	5	73181857	73181857	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:73181857C>T	uc010izf.3	+	24	3414	c.3238C>T	c.(3238-3240)Ctg>Ttg	p.L1080L	RGNEF_uc011csq.2_Silent_p.L1080L|RGNEF_uc021yam.1_Silent_p.L1080L|RGNEF_uc011csr.2_Silent_p.L767L|RGNEF_uc003kcz.4_Silent_p.L44L|RGNEF_uc003kda.4_Silent_p.L44L	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	1080					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		GAAGCAGGCACTGATGAGTGA	0.383000														24			21		0	0	0.00121646	0	0
ACTR3B	57180	broad.mit.edu	37	7	152520574	152520574	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:152520574G>A	uc003wle.1	+	7	949	c.832G>A	c.(832-834)Gga>Aga	p.G278R	ACTR3B_uc003wlf.1_Missense_Mutation_p.G278R|ACTR3B_uc003wlg.1_Missense_Mutation_p.G190R|ACTR3B_uc011kvp.1_Missense_Mutation_p.G190R	NM_020445	NP_065178	Q9P1U1	ARP3B_HUMAN	Homo sapiens ARP3 actin-related protein 3 homolog B (yeast) (ACTR3B), transcript variant 1, mRNA.	278					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	ATP binding|actin binding			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		AAGATTCCTGGGACCTGAAAT	0.463000														126			37		0	0	0.0025221	0	0
ROR2	4920	broad.mit.edu	37	9	94486827	94486827	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:94486827C>T	uc004arj.2	-	8	2148	c.1949G>A	c.(1948-1950)gGg>gAg	p.G650E	ROR2_uc004ari.1_Missense_Mutation_p.G510E	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	650	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CAGCGAGTTCCCCAGCAGCTT	0.572000														21			17		0	0	0.000958276	0	0
SYNE1	23345	broad.mit.edu	37	6	152708267	152708267	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:152708267G>A	uc021zhb.1	-	51	8650	c.8427C>T	c.(8425-8427)ttC>ttT	p.F2809F	SYNE1_uc003qot.4_Silent_p.F2816F|SYNE1_uc003qou.4_Silent_p.F2809F|SYNE1_uc010kjb.1_Silent_p.F2792F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2809					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGTGTCCTTGAAAGACTCAT	0.428000										HNSCC(10;0.0054)				65			20		0	0	0.00188189	0	0
MKRN3	7681	broad.mit.edu	37	15	23812438	23812438	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:23812438C>T	uc001ywh.4	+	0	1985	c.1509C>T	c.(1507-1509)ttC>ttT	p.F503F	MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Intron	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	503						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AAGAATATTTCAATTTGATTC	0.458000														65			41		0	0	0.00170553	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22864281	22864281	+	Missense_Mutation	SNP	C	T	T	rs143117271		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:22864281C>T	uc003xcp.2	+	6	872	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W	RHOBTB2_uc011kzp.1_Missense_Mutation_p.R182W|RHOBTB2_uc003xcq.2_Missense_Mutation_p.R175W|BC043400_uc003xcr.3_Non-coding_Transcript	NM_001160036	NP_055993	Q9BYZ6	RHBT2_HUMAN	Homo sapiens Rho-related BTB domain containing 2 (RHOBTB2), transcript variant 1, mRNA.	175	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		AGAGAAGGGTCGGGAGGTGGC	0.572000														45			15		0	0	0.00244969	0	0
HELZ	9931	broad.mit.edu	37	17	65116564	65116564	+	Silent	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:65116564T>C	uc010wqk.2	-	26	3985	c.3798A>G	c.(3796-3798)caA>caG	p.Q1266Q	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Silent_p.Q1265Q	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GATGCTGATTTTGTGGCTGGC	0.438000														61			23		0	0	0.00395357	0	0
TRBV29-1	28558	broad.mit.edu	37	7	142448482	142448482	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:142448482G>A	uc011ksl.1	+	1	107	c.76G>A	c.(76-78)Gat>Aat	p.D26N	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|TRBV29-1_uc022anu.1_Missense_Mutation_p.D22N					SubName: Full=V_segment translation product; Flags: Fragment;																		GCCAAGCAGGGATATCTGTCA	0.522000														45			19		0	0	0.00395357	0	0
ABCC6	368	broad.mit.edu	37	16	16282697	16282697	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:16282697G>A	uc002den.4	-	12	1807	c.1770C>T	c.(1768-1770)tcC>tcT	p.S590S	ABCC6_uc010bvo.3_Non-coding_Transcript|ABCC6_uc010uzz.1_Silent_p.S602S	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	590	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CCTGGACGAGGGAGTGGATGG	0.577000														17			10		0	0	0.000673444	0	0
FAT2	2196	broad.mit.edu	37	5	150946298	150946298	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:150946298G>T	uc003lue.4	-	0	2208	c.2195C>A	c.(2194-2196)aCc>aAc	p.T732N	FAT2_uc010jhx.1_Missense_Mutation_p.T732N	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	732	Cadherin 6.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCCAAGGGGGTGTTGATAGG	0.478000														113			17		1.56452e-12	3.56399e-12	0.000958276	1	0
CCDC169-SOHLH2	100526761	broad.mit.edu	37	13	36765966	36765966	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:36765966G>A	uc010tei.2	-	9	1042	c.727C>T	c.(727-729)Cac>Tac	p.H243Y	CCDC169-SOHLH2_uc001uvj.3_Missense_Mutation_p.H166Y	NM_001198910	NP_001185839	B4DX90	B4DX90_HUMAN	Homo sapiens CCDC169-SOHLH2 readthrough (CCDC169-SOHLH2), mRNA.	243					regulation of transcription, DNA-dependent	nucleus											TATCCCAGGTGTTCGCTGTAG	0.378000														41			37		0	0	0.0025221	0	0
RUNX1T1	862	broad.mit.edu	37	8	93003996	93003996	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:93003996C>T	uc022axs.1	-	6	1226	c.1039G>A	c.(1039-1041)Ggc>Agc	p.G347S	RUNX1T1_uc003yfc.2_Missense_Mutation_p.G261S|RUNX1T1_uc010mam.3_Missense_Mutation_p.G261S|RUNX1T1_uc003yfe.2_Missense_Mutation_p.G251S|RUNX1T1_uc003yfd.3_Missense_Mutation_p.G288S|RUNX1T1_uc022axo.1_Missense_Mutation_p.G288S|RUNX1T1_uc010mao.3_Missense_Mutation_p.G261S|RUNX1T1_uc011lgi.2_Missense_Mutation_p.G299S|RUNX1T1_uc022axp.1_Missense_Mutation_p.G288S|RUNX1T1_uc022axq.1_Missense_Mutation_p.G288S|RUNX1T1_uc022axr.1_Missense_Mutation_p.G288S|RUNX1T1_uc022axt.1_Missense_Mutation_p.G288S|RUNX1T1_uc022axu.1_Missense_Mutation_p.G268S|RUNX1T1_uc022axv.1_Missense_Mutation_p.G288S|RUNX1T1_uc010man.2_5'UTR|RUNX1T1_uc003yfb.2_Missense_Mutation_p.G251S	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	288	Important for oligomerization.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGAGGCAGGCCATTGGGCTGG	0.557000														41			13		0	0	0.00185496	0	0
CATSPERB	79820	broad.mit.edu	37	14	92055994	92055994	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:92055994G>A	uc001xzs.1	-	23	2980	c.2840C>T	c.(2839-2841)cCa>cTa	p.P947L	CATSPERB_uc010aub.1_Missense_Mutation_p.P469L	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	947					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TTGTGTAATTGGAAACTTAAA	0.363000														15			8		0	0	0.000274275	0	0
IGHE	3497	broad.mit.edu	37	14	106066649	106066649	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:106066649G>A	uc001yrw.1	-	4	1095	c.1083C>T	c.(1081-1083)atC>atT	p.I361I	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Silent_p.I308I|epsilon_IgE_uc010axp.1_5'Flank|IGHE_uc001yru.2_5'Flank					RecName: Full=Ig epsilon chain C region;																		TGAAGTTCTGGATCAGGCAGG	0.682000														13			7		0	0	0.00307968	0	0
GKAP1	80318	broad.mit.edu	37	9	86414158	86414159	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:86414158_86414159GG>TT	uc004amy.3	-	3	797_798	c.301_302CC>AA	c.(301-303)cca>AAa	p.P101K	GKAP1_uc004amz.3_Missense_Mutation_p.P101K|GKAP1_uc011lsu.1_Non-coding_Transcript	NM_025211	NP_079487	Q5VSY0	GKAP1_HUMAN	Homo sapiens G kinase anchoring protein 1 (GKAP1), transcript variant 1, mRNA.	101					signal transduction	Golgi apparatus		p.P101R(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						CTTCTGTACTGGGTTTGACAAT	0.361000														155			8		0	0	6.4e-05	0	0
MLL2	8085	broad.mit.edu	37	19	36210760	36210760	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:36210760C>T	uc021usv.1	+	2	511	c.511C>T	c.(511-513)Cct>Tct	p.P171S	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	628					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						AGATGTGGCTCCTACCCCCCC	0.632000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				53			15		0	0	0.00244969	0	0
EPPK1	83481	broad.mit.edu	37	8	144942663	144942663	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:144942663T>C	uc003zaa.1	-	0	4772	c.4759A>G	c.(4759-4761)Atc>Gtc	p.I1587V		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1587						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCTCTGGGATGCTCATCCTC	0.637000														13			4		0	0	0.00024832	0	0
PLEKHO2	80301	broad.mit.edu	37	15	65157377	65157377	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:65157377G>A	uc002anv.3	+	5	897	c.763G>A	c.(763-765)Gac>Aac	p.D255N	PLEKHO2_uc002anw.3_Missense_Mutation_p.D205N	NM_025201	NP_079477	Q8TD55	PKHO2_HUMAN	Homo sapiens pleckstrin homology domain containing, family O member 2 (PLEKHO2), transcript variant 1, mRNA.	255	Pro-rich.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGCAGAGGAGGACAGTGGCTC	0.642000														42			19		0	0	0.00121646	0	0
PDE6B	5158	broad.mit.edu	37	4	659089	659089	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:659089G>A	uc003gap.3	+	18	2292	c.2239G>A	c.(2239-2241)Gaa>Aaa	p.E747K	PDE6B_uc003gao.4_Missense_Mutation_p.E747K|PDE6B_uc011buy.2_Missense_Mutation_p.E468K|PDE6B_uc011buz.2_Missense_Mutation_p.E179K	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	747					GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						AGGTGACTTGGAAAGGACAGT	0.587000														61			13		0	0	0.000566183	0	0
OR52K2	119774	broad.mit.edu	37	11	4470782	4470782	+	Silent	SNP	C	T	T	rs143954018		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:4470782C>T	uc001lyz.2	+	0	258	c.213C>T	c.(211-213)atC>atT	p.I71I		NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 2 (OR52K2), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCAGCCATCGACCTGGTCC	0.532000														60			29		0	0	0.00178596	0	0
SLC7A4	6545	broad.mit.edu	37	22	21386021	21386021	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:21386021G>A	uc002zud.3	-	1	149	c.81C>T	c.(79-81)tcC>tcT	p.S27S	SLC7A4_uc002zue.3_Silent_p.S27S	NM_004173	NP_004164	O43246	CTR4_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 4 (SLC7A4), mRNA.	27					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TCTCCATGGTGGAGTCCTCCA	0.657000														27			15		0	0	0.00074312	0	0
CCDC146	57639	broad.mit.edu	37	7	76889394	76889394	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:76889394T>C	uc003uga.3	+	7	954	c.827T>C	c.(826-828)gTt>gCt	p.V276A	CCDC146_uc010ldp.3_Missense_Mutation_p.V22A	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.	276										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				CTAAAGAAAGTTGAAAACAAG	0.368000														97			65		0	0	0.00361006	0	0
DDX23	9416	broad.mit.edu	37	12	49228130	49228130	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:49228130C>T	uc001rsm.3	-	11	1624	c.1533G>A	c.(1531-1533)caG>caA	p.Q511Q		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 (DDX23), mRNA.	511	Helicase ATP-binding.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						GCCTGAAGCCCTGGTCTTCTC	0.512000														28			15		0	0	0.00074312	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999365	46999365	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:46999365C>T	uc001jec.3	+	2	620	c.485C>T	c.(484-486)tCt>tTt	p.S162F	GPRIN2_uc021ppt.1_Missense_Mutation_p.S162F	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	162										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GGTGGTACTTCTGGCCAGGGT	0.637000														22			8		0	0	0.00307968	0	0
CHKB	1120	broad.mit.edu	37	22	51020181	51020181	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:51020181G>A	uc003bmv.3	-	2	662	c.444C>T	c.(442-444)atC>atT	p.I148I	CPT1B_uc003bmp.3_5'Flank|CPT1B_uc021wsc.1_Non-coding_Transcript|CHKB_uc003bmt.2_Intron|CHKB_uc003bmu.3_Silent_p.I27I|LOC100144603_uc003bmw.4_5'Flank	NM_005198	NP_005189	Q9Y259	CHKB_HUMAN	Homo sapiens choline kinase beta (CHKB), mRNA.	148					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	CCCGTACTGGGATGTACTGTT	0.632000														57			25		0	0	0.00332997	0	0
INTS8	55656	broad.mit.edu	37	8	95866068	95866068	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:95866068G>A	uc003yhb.3	+	13	1803	c.1677G>A	c.(1675-1677)ctG>ctA	p.L559L	INTS8_uc003yha.1_Silent_p.L559L|INTS8_uc011lgq.2_Non-coding_Transcript|INTS8_uc011lgr.2_Non-coding_Transcript|INTS8_uc010mba.3_Silent_p.L386L	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	Homo sapiens integrator complex subunit 8 (INTS8), mRNA.	559					snRNA processing	integrator complex	protein binding	p.I558V(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					GTGTTATCCTGGGAATTAAAG	0.338000														364			197		0	0	0.00361006	0	0
DOCK3	1795	broad.mit.edu	37	3	51112817	51112817	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:51112817G>A	uc011bds.2	+	6	518	c.495G>A	c.(493-495)aaG>aaA	p.K165K		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	165						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGCCTCGGAAGGACTTTGAAG	0.438000														15			4		0	0	0.000602214	0	0
PARP15	165631	broad.mit.edu	37	3	122354670	122354670	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:122354670G>A	uc003efm.2	+	11	1826	c.1760G>A	c.(1759-1761)gGa>gAa	p.G587E	PARP15_uc003efn.2_Missense_Mutation_p.G392E|PARP15_uc003efo.1_Missense_Mutation_p.G334E|PARP15_uc003efp.1_Missense_Mutation_p.G353E|PARP15_uc011bjt.1_Missense_Mutation_p.G284E	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 15 (PARP15), transcript variant 1, mRNA.	565	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity	p.G353E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		GTATCCTATGGAAAAGGAACC	0.403000														37			20		0	0	0.00121646	0	0
EBF2	64641	broad.mit.edu	37	8	25708231	25708231	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:25708231G>A	uc003xes.2	-	14	1840	c.1575C>T	c.(1573-1575)atC>atT	p.I525I	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	525	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AAAATGGGAGGATGGAGGATG	0.498000														39			9		0	0	0.000442599	0	0
OR2A5	393046	broad.mit.edu	37	7	143747760	143747760	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:143747760G>A	uc011ktw.2	+	0	266	c.266G>A	c.(265-267)aGa>aAa	p.R89K		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TTGAACAAGAGAAAAACAATC	0.438000														109			36		0	0	0.00128727	0	0
DPYSL3	1809	broad.mit.edu	37	5	146798162	146798162	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:146798162C>T	uc003loo.3	-	2	701	c.503G>A	c.(502-504)gGa>gAa	p.G168E	DPYSL3_uc003lon.1_Missense_Mutation_p.G54E	NM_001197294	NP_001184223	Q14195	DPYL3_HUMAN	Homo sapiens dihydropyrimidinase-like 3 (DPYSL3), transcript variant 1, mRNA.	54					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCTTCACTCCTCCAGGAAC	0.408000														57			33		0	0	0.00375469	0	0
PTCH2	8643	broad.mit.edu	37	1	45288249	45288249	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:45288249G>A	uc010olf.2	-	21	3462	c.3450C>T	c.(3448-3450)ccC>ccT	p.P1150P	PTCH2_uc021omv.1_Intron|PTCH2_uc010olg.2_Silent_p.P848P	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	1150					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CAAAGCTCTGGGGCAGGGAGG	0.627000									Basal Cell Nevus syndrome					73			21		0	0	0.00152264	0	0
MLL2	8085	broad.mit.edu	37	19	36212370	36212370	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:36212370C>T	uc021usv.1	+	2	2121	c.2121C>T	c.(2119-2121)ttC>ttT	p.F707F	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	838	Pro-rich.			Missing (in Ref. 1; AAC51734).	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGCCTCGATTCGCCCCTGTGG	0.662000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				19			6		0	0	0.00116845	0	0
RP1	6101	broad.mit.edu	37	8	55541724	55541724	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:55541724C>T	uc003xsd.1	+	3	5430	c.5282C>T	c.(5281-5283)cCt>cTt	p.P1761L	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1761					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCTGAAAATCCTGGCATGTGT	0.433000														24			8		0	0	0.00307968	0	0
ACSM2B	348158	broad.mit.edu	37	16	20563612	20563612	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:20563612C>T	uc002dhj.4	-	6	958	c.748G>A	c.(748-750)Ggc>Agc	p.G250S	ACSM2B_uc002dhk.4_Missense_Mutation_p.G250S|ACSM2B_uc010bwf.1_Missense_Mutation_p.G250S	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	250					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding	p.G250C(2)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GCTTGCAGGCCTGTCCAACTG	0.473000														46			18		0	0	0.00278032	0	0
GLIS3	169792	broad.mit.edu	37	9	3829391	3829391	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:3829391C>T	uc003zhx.1	-	9	3288	c.2575G>A	c.(2575-2577)Gac>Aac	p.D859N	GLIS3_uc010mhf.1_Missense_Mutation_p.D253N|GLIS3_uc003zhv.1_Non-coding_Transcript|GLIS3_uc003zhw.1_Missense_Mutation_p.D704N	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	704					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		ACTAGGCAGTCCTCAAACGAA	0.537000														9			12		0	0	0.00136819	0	0
TRIM33	51592	broad.mit.edu	37	1	114973461	114973461	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:114973461C>A	uc001eew.3	-	5	1198	c.1114G>T	c.(1114-1116)Gaa>Taa	p.E372*	TRIM33_uc010owr.2_5'Flank|TRIM33_uc010ows.2_5'UTR|TRIM33_uc001eex.3_Nonsense_Mutation_p.E372*	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	Homo sapiens tripartite motif containing 33 (TRIM33), transcript variant a, mRNA.	372	Necessary for oligomerization.				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|R-SMAD binding|co-SMAD binding|ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTATTAATTTCATTGATAAGG	0.323000			T	RET	papillary thyroid									92			52		1.13709e-37	2.61499e-37	0.00361006	1	0
KCNK18	338567	broad.mit.edu	37	10	118969418	118969418	+	Missense_Mutation	SNP	G	A	A	rs3026042		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:118969418G>A	uc010qsr.2	+	2	763	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.	255			E -> K (in dbSNP:rs3026042).			integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CTCGTGTCCCGAACTGGTGTT	0.532000														30			14		0	0	0.00244969	0	0
OR51I2	390064	broad.mit.edu	37	11	5475616	5475616	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:5475616C>T	uc010qzf.2	+	0	979	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 2 (OR51I2), mRNA.	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R300C(2)|p.R300R(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGGAAATCCGCCGAGCCAT	0.443000														76			70		0	0	0.00361006	0	0
GUCY2F	2986	broad.mit.edu	37	X	108673541	108673541	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:108673541C>T	uc022cch.1	-	6	1871	c.1786G>A	c.(1786-1788)Gaa>Aaa	p.E596K	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.E596K	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	596	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.E596K(2)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CATACCATTTCGAACACATCA	0.383000														63			136		0	0	0.00361006	0	0
REPS1	85021	broad.mit.edu	37	6	139266400	139266400	+	Missense_Mutation	SNP	G	A	A	rs142283202		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:139266400G>A	uc003qii.3	-	3	1163	c.584C>T	c.(583-585)gCg>gTg	p.A195V	REPS1_uc003qig.4_Missense_Mutation_p.A195V|REPS1_uc011edr.2_Missense_Mutation_p.A195V|REPS1_uc003qij.3_Missense_Mutation_p.A195V|REPS1_uc003qik.3_5'UTR	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA.	195						coated pit|plasma membrane	SH3 domain binding|calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		CCCAGGTCCCGCGAGAGGCCT	0.527000														12			5		0	0	0.00116845	0	0
COL11A1	1301	broad.mit.edu	37	1	103491503	103491503	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:103491503C>T	uc001dum.3	-	5	1104	c.786G>A	c.(784-786)aaG>aaA	p.K262K	COL11A1_uc001duk.3_Intron|COL11A1_uc001dul.3_Intron|COL11A1_uc001dun.3_Intron|COL11A1_uc009weh.3_Intron	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	262	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AATTGGATTTCTTTTTCTGTA	0.338000														85			38		0	0	0.00428921	0	0
TRIM72	493829	broad.mit.edu	37	16	31234238	31234238	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:31234238G>A	uc002ebn.2	+	5	1115	c.831G>A	c.(829-831)tgG>tgA	p.W277*	TRIM72_uc002ebp.1_5'Flank	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN	Homo sapiens tripartite motif containing 72 (TRIM72), mRNA.	277	B30.2/SPRY.				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						TCCAGGTGTGGAGGAAGATGT	0.597000														87			47		0	0	0.00361006	0	0
RASAL2	9462	broad.mit.edu	37	1	178420757	178420757	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:178420757C>T	uc001glq.3	+	9	2443	c.1679C>T	c.(1678-1680)cCc>cTc	p.P560L	RASAL2_uc001glr.3_Missense_Mutation_p.P412L|RASAL2_uc009wxc.3_5'Flank	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	412					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GAAGTGGATCCCAGCAAATGT	0.423000														44			50		0	0	0.00361006	0	0
TEKT1	83659	broad.mit.edu	37	17	6716248	6716248	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:6716248C>T	uc002gdt.3	-	5	864	c.754G>A	c.(754-756)Gat>Aat	p.D252N	TEKT1_uc010vth.2_Missense_Mutation_p.D106N	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	Homo sapiens tektin 1 (TEKT1), mRNA.	252					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TTGCGCAGATCATTGGCTGTC	0.542000														42			54		0	0	0.00361006	0	0
HAPLN1	1404	broad.mit.edu	37	5	82948551	82948551	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:82948551G>A	uc003kim.3	-	1	264	c.193C>T	c.(193-195)Cga>Tga	p.R65*	HAPLN1_uc003kin.3_Nonsense_Mutation_p.R65*	NM_001884	NP_001875	P10915	HPLN1_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.	65	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		GTAGGGTCTCGATAAAATTTA	0.423000														27			24		0	0	0.00278032	0	0
MUC16	94025	broad.mit.edu	37	19	8994429	8994429	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:8994429G>A	uc002mkp.3	-	63	41667	c.41463C>T	c.(41461-41463)gtC>gtT	p.V13821V	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.V638V|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13824	SEA 12.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCCCTGAAGGACCCTCTCTG	0.537000														130			24		0	0	0.00332997	0	0
TRBV25-1	28562	broad.mit.edu	37	7	142379012	142379012	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:142379012C>T	uc003waa.1	+	1	280	c.280C>T	c.(280-282)Ccc>Tcc	p.P94S	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TRBV23-1_uc022ans.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		GGAGCATTTTCCCCTGACCCT	0.498000														31			21		0	0	0.00152264	0	0
NPSR1	387129	broad.mit.edu	37	7	34874056	34874056	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:34874056G>A	uc003teh.1	+	5	869	c.741G>A	c.(739-741)gtG>gtA	p.V247V	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.V247V|NPSR1_uc010kwt.1_Silent_p.V94V|NPSR1_uc010kwu.1_Silent_p.V37V|NPSR1_uc010kwv.1_Silent_p.V181V|NPSR1_uc003tei.1_Silent_p.V247V|NPSR1_uc010kww.1_Silent_p.V236V|NPSR1_uc011kar.1_Silent_p.V181V|NPSR1-AS1_uc010kwy.3_5'Flank|NPSR1-AS1_uc003tek.4_5'Flank	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	247						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	ACGAAACAGTGATTTCCAACT	0.423000														22			18		0	0	0.00188189	0	0
ZNF99	7652	broad.mit.edu	37	19	22941440	22941440	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:22941440G>A	uc021urt.1	-	3	1426	c.1271C>T	c.(1270-1272)cCc>cTc	p.P424L		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ACATTTGCAGGGTTTCTCTGC	0.373000														30			13		0	0	0.00185496	0	0
TFCP2	7024	broad.mit.edu	37	12	51493552	51493552	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:51493552G>A	uc001rxw.3	-	11	1883	c.1162C>T	c.(1162-1164)Cca>Tca	p.P388S	TFCP2_uc001rxv.2_Missense_Mutation_p.P388S|TFCP2_uc009zlx.2_Missense_Mutation_p.P337S|TFCP2_uc009zly.1_Missense_Mutation_p.P290S	NM_005653	NP_005644	Q12800	TFCP2_HUMAN	Homo sapiens transcription factor CP2 (TFCP2), transcript variant 1, mRNA.	388	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						GTTAACCTTGGACGCACCATC	0.418000														17			10		0	0	0.000673444	0	0
FAT3	120114	broad.mit.edu	37	11	92086290	92086290	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:92086290C>T	uc001pdj.4	+	0	1029	c.1012C>T	c.(1012-1014)Ccc>Tcc	p.P338S		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	338	Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.A338T(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGAGAGCTTTCCCTATGGCTA	0.453000										TCGA Ovarian(4;0.039)				129			36		0	0	0.00428921	0	0
ACD	65057	broad.mit.edu	37	16	67694047	67694047	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:67694047G>A	uc002etq.4	-	0	672	c.335C>T	c.(334-336)cCa>cTa	p.P112L	ACD_uc002etp.4_Missense_Mutation_p.P112L|ACD_uc002etr.4_Missense_Mutation_p.P112L|ACD_uc010vjt.1_Missense_Mutation_p.P102L|PARD6A_uc002ett.3_5'Flank|PARD6A_uc002ets.3_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	Homo sapiens adrenocortical dysplasia homolog (mouse) (ACD), transcript variant 1, mRNA.	112					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCCGGCTCGTGGACTGGAGGG	0.692000														28			16		0	0	0.00400662	0	0
SLC14A2	8170	broad.mit.edu	37	18	43258959	43258960	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr18:43258959_43258960GG>AA	uc002lbe.3	+	18	3348_3349	c.2532_2533GG>AA	c.(2530-2535)ctgggt>ctAAgt	p.G845S	SLC14A2_uc010dnj.3_Missense_Mutation_p.G845S	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	845						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGCCTACCTGGGTGCTGCCCT	0.441000														13			16		0	0	6.4e-05	0	0
OBSL1	23363	broad.mit.edu	37	2	220420890	220420890	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:220420890C>T	uc010fwk.3	-	13	4775	c.4461G>A	c.(4459-4461)ggG>ggA	p.G1487G	OBSL1_uc002vmh.1_Silent_p.G386G|OBSL1_uc010zli.1_Silent_p.G294G|OBSL1_uc010fwl.2_Silent_p.G1487G	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	1487	Ig-like 12.				cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCAGGGGCTGCCCACCTCGCA	0.667000														12			11		0	0	0.000978159	0	0
STRN3	29966	broad.mit.edu	37	14	31381349	31381349	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:31381349G>A	uc001wqu.2	-	10	1630	c.1414C>T	c.(1414-1416)Ccc>Tcc	p.P472S	STRN3_uc001wqv.2_Missense_Mutation_p.P388S|STRN3_uc010tpj.1_Non-coding_Transcript	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	Homo sapiens striatin, calmodulin binding protein 3 (STRN3), transcript variant 1, mRNA.	472					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	Golgi apparatus|cytoplasm|dendrite|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		GTATACTTGGGATTCCATGTC	0.423000														61			62		0	0	0.00361006	0	0
GLRX3	10539	broad.mit.edu	37	10	131959077	131959078	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:131959077_131959078CC>TT	uc001lkn.2	+	3	340_341	c.294_295CC>TT	c.(292-297)gaccga>gaTTga	p.R99*	GLRX3_uc001lkm.2_Nonsense_Mutation_p.R99*|GLRX3_uc001lko.3_Non-coding_Transcript|GLRX3_uc021qay.1_5'UTR	NM_001199868	NP_001186797	O76003	GLRX3_HUMAN	Homo sapiens glutaredoxin 3 (GLRX3), transcript variant 1, mRNA.	99	Thioredoxin.				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		AGAAAATCGACCGATTAGATGG	0.376000														37			11		0	0	6.4e-05	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7670259	7670259	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:7670259C>T	uc002mgu.4	+	1	397	c.296C>T	c.(295-297)cCc>cTc	p.P99L	CAMSAP3_uc002mgv.4_Missense_Mutation_p.P99L	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	99					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GAAACACCCCCCAACCCCTCT	0.692000														30			25		0	0	0.000720815	0	0
STOML2	30968	broad.mit.edu	37	9	35100991	35100991	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:35100991G>A	uc003zwi.3	-	7	805	c.742C>T	c.(742-744)Ctg>Ttg	p.L248L	STOML2_uc011lou.2_Silent_p.L203L	NM_013442	NP_038470	Q9UJZ1	STML2_HUMAN	Homo sapiens stomatin (EPB72)-like 2 (STOML2), mRNA.	248						cytoskeleton	receptor binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCCTTCGCCAGAACTGCACTG	0.542000														130			67		0	0	0.00361006	0	0
C12orf42	374470	broad.mit.edu	37	12	103872171	103872171	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:103872171C>T	uc001tjt.2	-	1	122	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	C12orf42_uc001tjs.3_Non-coding_Transcript|C12orf42_uc009zuf.1_Missense_Mutation_p.E12K|C12orf42_uc001tju.2_5'UTR	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	Homo sapiens chromosome 12 open reading frame 42 (C12orf42), transcript variant 1, mRNA.	12										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						AAGAATTCTTCTTCCCTTTGT	0.338000														8			8		0	0	0.000442599	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229300	8229300	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:8229300G>A	uc003gkv.4	+	11	1980	c.1879G>A	c.(1879-1881)Gcc>Acc	p.A627T	SH3TC1_uc003gkw.4_Missense_Mutation_p.A551T|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	627							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GGTGCCCAAAGCCATGGCCCT	0.662000														49			20		0	0	0.000958276	0	0
RPH3A	22895	broad.mit.edu	37	12	113314635	113314635	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:113314635G>A	uc010syl.2	+	12	1497	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K	RPH3A_uc001ttz.3_Missense_Mutation_p.E379K|RPH3A_uc001tty.3_Missense_Mutation_p.E375K|RPH3A_uc009zwe.1_Missense_Mutation_p.E375K|RPH3A_uc010sym.2_Missense_Mutation_p.E330K|RPH3A_uc001tua.3_Missense_Mutation_p.E139K	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	379					intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		AGAGGAGGAGGAAGAGGAAGC	0.587000														27			18		0	0	0.00278032	0	0
EIF2B3	8891	broad.mit.edu	37	1	45347380	45347380	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:45347380G>A	uc001cmt.2	-	6	894	c.688C>T	c.(688-690)Cca>Tca	p.P230S	EIF2B3_uc001cmu.2_Missense_Mutation_p.P230S|EIF2B3_uc001cmw.3_Missense_Mutation_p.P230S	NM_020365	NP_065098	Q9NR50	EI2BG_HUMAN	Homo sapiens eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa (EIF2B3), transcript variant 1, mRNA.	230					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					ACTAAATATGGAATCAGTTCA	0.408000														62			43		0	0	0.00222228	0	0
SMC3	9126	broad.mit.edu	37	10	112342355	112342355	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:112342355C>T	uc001kze.3	+	9	885	c.759C>T	c.(757-759)tcC>tcT	p.S253S		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.	253					DNA mediated transformation|DNA repair|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GAGAAAAATCCAGACAATTAA	0.318000														20			4		0	0	0.00024832	0	0
MUC16	94025	broad.mit.edu	37	19	9090523	9090523	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:9090523C>T	uc002mkp.3	-	0	1496	c.1292G>A	c.(1291-1293)gGa>gAa	p.G431E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	431	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATTCAAAGTTCCTTCTGTTTC	0.493000														79			23		0	0	0.00395357	0	0
KIF13A	63971	broad.mit.edu	37	6	17772153	17772153	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:17772153G>A	uc003ncg.4	-	36	4622	c.4462C>T	c.(4462-4464)Ctt>Ttt	p.L1488F	KIF13A_uc003ncf.3_Missense_Mutation_p.L1475F|KIF13A_uc003nch.4_Missense_Mutation_p.L1488F|KIF13A_uc003nci.4_Missense_Mutation_p.L1475F|KIF13A_uc003nce.2_Missense_Mutation_p.L74F	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1488					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TGGCTTAGAAGAGGCCTTGCT	0.458000														152			110		0	0	0.00361006	0	0
CERCAM	51148	broad.mit.edu	37	9	131186786	131186786	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:131186786C>T	uc004buz.4	+	4	1057	c.659C>T	c.(658-660)tCc>tTc	p.S220F	CERCAM_uc004buy.1_Missense_Mutation_p.S142F|CERCAM_uc010mxz.3_Missense_Mutation_p.S142F|CERCAM_uc010mya.1_Missense_Mutation_p.S61F	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN	Homo sapiens cerebral endothelial cell adhesion molecule (CERCAM), mRNA.	220					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						TTCCTTGCATCCCTGCGGGCT	0.622000														16			29		0	0	0.000878237	0	0
TNFSF11	8600	broad.mit.edu	37	13	43180898	43180898	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:43180898G>A	uc001uyu.2	+	4	947	c.798G>A	c.(796-798)ggG>ggA	p.G266G	TNFSF11_uc001uyt.2_Silent_p.G193G	NM_003701	NP_143026	O14788	TNF11_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 11 (TNFSF11), transcript variant 1, mRNA.	266					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell activation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of osteoclast differentiation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding	p.G266G(2)		kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		ATTGGTCAGGGAATTCTGAAT	0.423000														72			8		0	0	0.00307968	0	0
ESYT3	83850	broad.mit.edu	37	3	138184241	138184241	+	Missense_Mutation	SNP	G	A	A	rs146734321	by1000genomes	TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:138184241G>A	uc003esk.3	+	9	1373	c.1147G>A	c.(1147-1149)Gac>Aac	p.D383N	ESYT3_uc010hug.2_Non-coding_Transcript	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA.	383	C2 1.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						TGAGGATACCGACAGGGATGA	0.592000														129			67		0	0	0.00361006	0	0
ANKRD27	84079	broad.mit.edu	37	19	33110260	33110260	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:33110260G>A	uc002ntn.1	-	19	2069	c.1913C>T	c.(1912-1914)tCc>tTc	p.S638F		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	Homo sapiens ankyrin repeat domain 27 (VPS9 domain) (ANKRD27), mRNA.	638					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GGAGTCCACGGAGCGCTGCGG	0.612000														38			22		0	0	0.00332997	0	0
ACIN1	22985	broad.mit.edu	37	14	23564455	23564456	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:23564455_23564456CG>AT	uc001wit.4	-	0	368_369	c.40_41CG>AT	c.(40-42)cgg>ATg	p.R14M	ACIN1_uc010akg.3_Missense_Mutation_p.R14M|ACIN1_uc010tnj.2_Missense_Mutation_p.R14M|C14orf119_uc001wiu.3_5'Flank|C14orf119_uc021rqv.1_5'Flank	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.	14					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	p.R14R(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CAGAACTCCCCGGGTTCCTCCG	0.569000														151			5		0	0	6.4e-05	0	0
HCRTR2	3062	broad.mit.edu	37	6	55120098	55120098	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:55120098C>T	uc003pcl.3	+	2	882	c.567C>T	c.(565-567)atC>atT	p.I189I	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Silent_p.I124I	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	189					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTCAGGCCATCGTCATGGAGT	0.502000														23			9		0	0	0.000274275	0	0
ITIH5	80760	broad.mit.edu	37	10	7697622	7697622	+	Missense_Mutation	SNP	G	A	A	rs139355305		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:7697622G>A	uc021pmv.1	-	1	213	c.107C>T	c.(106-108)cCg>cTg	p.P36L	ITIH5_uc001ijr.2_Missense_Mutation_p.P36L	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	36	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GACTTGCCTCGGGACCCTGAG	0.403000														59			15		0	0	0.00074312	0	0
MORC1	27136	broad.mit.edu	37	3	108818307	108818308	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:108818307_108818308GG>AA	uc003dxl.3	-	5	407_408	c.320_321CC>TT	c.(319-321)tcc>tTT	p.S107F	MORC1_uc011bhn.2_Missense_Mutation_p.S107F	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	107					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CAATTCTCATGGACCCACTATA	0.351000														27			11		0	0	6.4e-05	0	0
TAF1L	138474	broad.mit.edu	37	9	32632987	32632987	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:32632987C>A	uc003zrg.1	-	0	2681	c.2591G>T	c.(2590-2592)aGg>aTg	p.R864M	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	864					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GAGCTTTAGCCTCTTCCGGAT	0.463000														108			43		2.81731e-22	6.46436e-22	0.00361006	1	0
DPYD	1806	broad.mit.edu	37	1	98164935	98164935	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:98164935C>T	uc001drv.3	-	5	789	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	DPYD_uc010oub.1_Non-coding_Transcript	NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	218					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity	p.E218A(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TCTTGTTTTTCAAATATAGTG	0.363000														28			16		0	0	0.00400662	0	0
LTBP1	4052	broad.mit.edu	37	2	33623595	33623595	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:33623595G>A	uc021vft.1	+	33	5172	c.5149G>A	c.(5149-5151)Gac>Aac	p.D1717N	LTBP1_uc002rou.3_Missense_Mutation_p.D1391N|LTBP1_uc002rov.3_Missense_Mutation_p.D1338N|LTBP1_uc010ymz.2_Missense_Mutation_p.D1349N|LTBP1_uc010yna.2_Missense_Mutation_p.D1296N|LTBP1_uc010ynb.2_Missense_Mutation_p.D615N	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1717					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TTTAGAGAAAGACAGTGACCT	0.438000														69			18		0	0	0.000958276	0	0
VLDLR	7436	broad.mit.edu	37	9	2647525	2647525	+	Silent	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:2647525A>G	uc003zhk.1	+	11	2152	c.1755A>G	c.(1753-1755)ggA>ggG	p.G585G	VLDLR_uc003zhl.1_Silent_p.G585G|VLDLR_uc003zhm.1_Non-coding_Transcript	NM_003383	NP_003374	P98155	VLDLR_HUMAN	Homo sapiens very low density lipoprotein receptor (VLDLR), transcript variant 1, mRNA.	585					cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		AAAAAGCAGGAATGAATGGAT	0.423000														13			12		0	0	0.00136819	0	0
LZTS2	84445	broad.mit.edu	37	10	102763647	102763647	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:102763647C>T	uc001ksj.3	+	2	962	c.792C>T	c.(790-792)gtC>gtT	p.V264V	LZTS2_uc010qpw.2_Silent_p.V264V|LZTS2_uc001ksk.3_Silent_p.V264V|LZTS2_uc001ksl.3_Silent_p.V264V|LZTS2_uc001ksm.3_Non-coding_Transcript	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 2 (LZTS2), mRNA.	264	Required for centrosomal localization (By similarity).|Ser-rich.				Wnt receptor signaling pathway|cell division|mitosis	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CCCGAGGGGTCCCTACTGGGC	0.701000														24			7		0	0	0.00198382	0	0
CBX4	8535	broad.mit.edu	37	17	77808070	77808070	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:77808070G>A	uc002jxe.3	-	4	1534	c.1371C>T	c.(1369-1371)ctC>ctT	p.L457L		NM_003655	NP_003646	O00257	CBX4_HUMAN	Homo sapiens chromobox homolog 4 (CBX4), mRNA.	457	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CGGGCTGCGGGAGGGCGGCGG	0.716000														14			5		0	0	0.000602214	0	0
SLC9C2	284525	broad.mit.edu	37	1	173567069	173567069	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:173567069A>C	uc001giz.2	-	3	754	c.331T>G	c.(331-333)Tat>Gat	p.Y111D	SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	111					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TTGAGTGTATAAAATTCTACA	0.318000														190			5		0	0	0.000602214	0	0
DEM1	64789	broad.mit.edu	37	1	40980727	40980727	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:40980727G>A	uc001cfp.3	+	2	716	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	DEM1_uc001cfq.3_Missense_Mutation_p.E171K|DEM1_uc001cfr.3_Missense_Mutation_p.E171K|DEM1_uc021omb.1_Missense_Mutation_p.E171K	NM_022774	NP_073611	Q9H790	EXO5_HUMAN	Homo sapiens defects in morphology 1 homolog (S. cerevisiae) (DEM1), mRNA.	171							DNA binding|exonuclease activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|urinary_tract(2)	10						AGTGTTTGGGGAAGGGGAGGG	0.498000														104			53		0	0	0.00361006	0	0
ZNF430	80264	broad.mit.edu	37	19	21239688	21239688	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:21239688C>T	uc002npj.3	+	4	755	c.574C>T	c.(574-576)Cca>Tca	p.P192S	ZNF430_uc002npk.3_Missense_Mutation_p.P191S	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	Homo sapiens zinc finger protein 430 (ZNF430), transcript variant 1, mRNA.	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						ATTTTCAAATCCAAATATACA	0.284000														24			6		0	0	0.00116845	0	0
MKX	283078	broad.mit.edu	37	10	28030293	28030293	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:28030293G>A	uc001ity.4	-	2	554	c.329C>T	c.(328-330)tCg>tTg	p.S110L	MKX_uc001itx.4_Missense_Mutation_p.S110L	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA.	110					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						CGTCATCTGCGAGCCGAGGGC	0.582000														47			23		0	0	0.00395357	0	0
QTRT1	81890	broad.mit.edu	37	19	10823442	10823442	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:10823442C>T	uc002mpr.3	+	7	895	c.870C>T	c.(868-870)ggC>ggT	p.G290G	DNM2_uc010dxk.2_5'Flank	NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	Homo sapiens queuine tRNA-ribosyltransferase 1 (QTRT1), mRNA.	290					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			AGCGCTTTGGCTCTGCCCTGG	0.632000														72			49		0	0	0.00361006	0	0
LMOD3	56203	broad.mit.edu	37	3	69169130	69169130	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:69169130C>T	uc003dns.2	-	1	585	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	LMOD3_uc003dnt.2_Missense_Mutation_p.E126K	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	Homo sapiens leiomodin 3 (fetal) (LMOD3), mRNA.	126	Glu-rich.					cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		GCAACTATTTCATTATTGAGC	0.338000														18			7		0	0	0.00198382	0	0
GPR137	56834	broad.mit.edu	37	11	64056796	64056796	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:64056796C>T	uc010rni.2	+	8	1415	c.1387C>T	c.(1387-1389)Cct>Tct	p.P463S	GPR137_uc010rnj.2_3'UTR|GPR137_uc001nzf.3_3'UTR|GPR137_uc001nzi.3_3'UTR|GPR137_uc021qkt.1_Missense_Mutation_p.P405S|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank|KCNK4_uc001nzl.1_5'Flank|KCNK4_uc001nzm.4_5'Flank|KCNK4_uc001nzn.1_5'Flank	NM_001170726	NP_001164197	Q96N19	G137A_HUMAN	Homo sapiens G protein-coupled receptor 137 (GPR137), transcript variant 4, mRNA.	405						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CTGGCCGGCTCCTTGCTGCTC	0.667000														81			15		0	0	0.00121646	0	0
ANKH	56172	broad.mit.edu	37	5	14758692	14758692	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:14758692C>T	uc003jfm.4	-	2	660	c.329G>A	c.(328-330)gGa>gAa	p.G110E		NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	Homo sapiens ankylosis, progressive homolog (mouse) (ANKH), mRNA.	110					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AATGTAGTATCCTAAATCACT	0.398000														69			5		0	0	0.00116845	0	0
MYH15	22989	broad.mit.edu	37	3	108212016	108212016	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:108212016G>A	uc003dxa.1	-	8	837	c.780C>T	c.(778-780)ttC>ttT	p.F260F		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	260	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCATCCTGATGAATTTGCCCT	0.408000														34			19		0	0	0.00229938	0	0
VPS13A	23230	broad.mit.edu	37	9	79936480	79936480	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:79936480C>T	uc004akr.3	+	43	5908	c.5648C>T	c.(5647-5649)tCc>tTc	p.S1883F	VPS13A_uc004akp.4_Missense_Mutation_p.S1883F|VPS13A_uc004akq.4_Missense_Mutation_p.S1883F|VPS13A_uc004aks.3_Missense_Mutation_p.S1844F|VPS13A_uc004akt.3_Missense_Mutation_p.S223F	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	1883					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATTTTAAATTCCCTTGGACTT	0.338000														13			18		0	0	0.00074312	0	0
NLRP13	126204	broad.mit.edu	37	19	56424543	56424543	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:56424543C>T	uc010ygg.2	-	4	665	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	214							ATP binding	p.E213Q(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CGCTGCAGTTCCTCATGTTCG	0.512000														99			71		0	0	0.00361006	0	0
PTPRT	11122	broad.mit.edu	37	20	41306585	41306585	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:41306585G>A	uc002xkg.3	-	6	1258	c.1074C>T	c.(1072-1074)atC>atT	p.I358I	PTPRT_uc010ggj.3_Silent_p.I358I	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	358	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGAGCACTCGGATCTCATACT	0.562000														90			29		0	0	0.00327116	0	0
LILRA4	23547	broad.mit.edu	37	19	54849227	54849227	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:54849227G>A	uc002qfj.3	-	3	692	c.635C>T	c.(634-636)cCc>cTc	p.P212L	LILRA4_uc002qfi.3_Missense_Mutation_p.P146L	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	212	Ig-like C2-type 2.					integral to membrane	receptor activity	p.P212L(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TAGCTGCAGGGGGTCACTGGG	0.567000														24			16		0	0	0.00074312	0	0
COL28A1	340267	broad.mit.edu	37	7	7495724	7495724	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:7495724C>T	uc003src.1	-	15	1439	c.1322G>A	c.(1321-1323)gGa>gAa	p.G441E	COL28A1_uc011jxe.1_Missense_Mutation_p.G124E|COL28A1_uc003srd.3_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	441					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCCTTGGGGTCCCACAGGTCC	0.428000														58			16		0	0	0.00121646	0	0
GTPBP2	54676	broad.mit.edu	37	6	43596721	43596721	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:43596721G>A	uc003ovs.3	-	0	216	c.179C>T	c.(178-180)cCc>cTc	p.P60L	GTPBP2_uc010jyv.3_5'Flank|MAD2L1BP_uc003ovu.3_5'Flank	NM_019096	NP_061969	Q9BX10	GTPB2_HUMAN	Homo sapiens GTP binding protein 2 (GTPBP2), mRNA.	60							GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CACCTCGGGGGGCAAATACGG	0.622000														21			4		0	0	0.000602214	0	0
TACR2	6865	broad.mit.edu	37	10	71164665	71164665	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:71164665C>T	uc001jpn.2	-	4	1709	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	TACR2_uc001jpm.2_Missense_Mutation_p.E160K	NM_001057	NP_001048	P21452	NK2R_HUMAN	Homo sapiens tachykinin receptor 2 (TACR2), mRNA.	372					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	CGCCCCGCCTCCCCACTGGTA	0.567000														17			4		0	0	0.000602214	0	0
PTCH2	8643	broad.mit.edu	37	1	45296630	45296630	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:45296630G>A	uc010olf.2	-	5	715	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W	PTCH2_uc021omv.1_Missense_Mutation_p.R235W|PTCH2_uc010olg.2_Intron	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	235					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					AGCAGCTCCCGGAAGCCCTCA	0.647000									Basal Cell Nevus syndrome					22			20		0	0	0.00188189	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55381350	55381350	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:55381350G>A	uc003pcn.3	-	4	598	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	HMGCLL1_uc011dxe.2_Intron|HMGCLL1_uc003pco.3_Missense_Mutation_p.R117C|HMGCLL1_uc010jzx.3_Missense_Mutation_p.R18C|HMGCLL1_uc011dxc.2_Intron|HMGCLL1_uc011dxd.2_Intron|HMGCLL1_uc003pcp.3_Intron	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 (HMGCLL1), transcript variant 1, mRNA.	147							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACAGGATAGCGAACTCCTGGA	0.343000														25			4		0	0	0.000602214	0	0
DNAH8	1769	broad.mit.edu	37	6	38749134	38749134	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:38749134C>T	uc021yzh.1	+	15	2353	c.2244C>T	c.(2242-2244)ccC>ccT	p.P748P	DNAH8_uc003ooe.2_Silent_p.P531P	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.T747T(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TAAGTGAGCCCATCAATTATT	0.373000														29			8		0	0	0.000442599	0	0
CD200	4345	broad.mit.edu	37	3	112064089	112064089	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:112064089C>T	uc003dyw.3	+	3	594	c.450C>T	c.(448-450)acC>acT	p.T150T	CD200_uc010hqd.1_Missense_Mutation_p.P11L|CD200_uc003dyx.3_Silent_p.T125T|CD200_uc003dyz.3_Silent_p.T51T|CD200_uc003dyy.3_Missense_Mutation_p.P11L	NM_001004196	NP_001004196	P41217	OX2G_HUMAN	Homo sapiens CD200 molecule (CD200), transcript variant 2, mRNA.	125	Ig-like C2-type.				regulation of immune response	integral to plasma membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				TCTTCAATACCTTTGGTTTTG	0.443000														40			17		0	0	0.00278032	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6093507	6093507	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr18:6093507G>A	uc002kmz.4	-	14	1380	c.1220C>T	c.(1219-1221)tCa>tTa	p.S407L	L3MBTL4_uc002kmy.4_Missense_Mutation_p.S407L|L3MBTL4_uc010dkt.3_Missense_Mutation_p.S407L	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	407					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GTTCATGTCTGAATACGGGCA	0.393000														20			27		0	0	0.00106085	0	0
MLC1	23209	broad.mit.edu	37	22	50500043	50500043	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:50500043C>T	uc003bjg.1	-	11	1376	c.1103G>A	c.(1102-1104)tGg>tAg	p.W368*	MLC1_uc011arl.1_Nonsense_Mutation_p.W316*|MLC1_uc003bjh.1_Nonsense_Mutation_p.W368*|MLC1_uc011arm.1_Nonsense_Mutation_p.W338*|MLC1_uc011arn.1_Nonsense_Mutation_p.W289*|MLC1_uc011aro.1_Nonsense_Mutation_p.W334*	NM_139202	NP_631941	Q15049	MLC1_HUMAN	Homo sapiens megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1), transcript variant 2, mRNA.	368						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		GACGGCTCTCCAGGCTTTCTC	0.632000														51			17		0	0	0.00188189	0	0
PTPRC	5788	broad.mit.edu	37	1	198685930	198685930	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:198685930G>A	uc001gur.1	+	12	1585	c.1405G>A	c.(1405-1407)Gga>Aga	p.G469R	PTPRC_uc001gut.1_Missense_Mutation_p.G308R|PTPRC_uc009wzf.1_Missense_Mutation_p.G357R|PTPRC_uc021pgy.1_Missense_Mutation_p.G423R|PTPRC_uc010ppg.1_Missense_Mutation_p.G405R	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	469	Fibronectin type-III 1.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GCAACGTAATGGAAGTGCTGC	0.303000														70			17		0	0	0.00152264	0	0
LAG3	3902	broad.mit.edu	37	12	6884007	6884007	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:6884007T>G	uc001qqt.4	+	3	1107	c.758T>G	c.(757-759)aTc>aGc	p.I253S	LAG3_uc001qqs.3_Missense_Mutation_p.I253S|LAG3_uc001qqu.3_Missense_Mutation_p.I83S	NM_002286	NP_002277	P18627	LAG3_HUMAN	Homo sapiens lymphocyte-activation gene 3 (LAG3), mRNA.	253						integral to membrane	MHC class II protein binding|antigen binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AACGTCTCCATCATGTATAAC	0.557000														53			44		0	0	0.00361006	0	0
SLC2A14	144195	broad.mit.edu	37	12	7973829	7973829	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:7973829G>A	uc010sgh.2	-	6	1092	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F	SLC2A14_uc001qtk.3_Silent_p.F342F|SLC2A14_uc001qtl.3_Silent_p.F319F|SLC2A14_uc001qtm.3_Silent_p.F319F|SLC2A14_uc010sgg.2_Silent_p.F233F|SLC2A14_uc001qtn.3_Silent_p.F342F|SLC2A14_uc001qto.3_5'UTR	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	342					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		AAAGTAAAGTGAAGATAGTAT	0.428000														82			42		0	0	0.00285205	0	0
KRT4	3851	broad.mit.edu	37	12	53207450	53207450	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:53207450C>T	uc001saz.3	-	0	615	c.615G>A	c.(613-615)caG>caA	p.Q205Q		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	131						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						TCCGGACTTTCTGGATCTCAG	0.597000														69			54		0	0	0.00361006	0	0
DNAH8	1769	broad.mit.edu	37	6	38830154	38830154	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:38830154G>A	uc021yzh.1	+	43	6339	c.6230G>A	c.(6229-6231)gGa>gAa	p.G2077E	DNAH8_uc003ooe.2_Missense_Mutation_p.G1860E	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAAGACATGGGAAGGTGTTTG	0.463000														68			42		0	0	0.00285205	0	0
RNF183	138065	broad.mit.edu	37	9	116060012	116060012	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:116060012C>T	uc022bmd.1	-	0	453	c.453G>A	c.(451-453)ttG>ttA	p.L151L	RNF183_uc004bgz.3_Silent_p.L151L|RNF183_uc004bha.3_Silent_p.L151L	NM_145051	NP_659488	Q96D59	RN183_HUMAN	Homo sapiens ring finger protein 183 (RNF183), mRNA.	151						integral to membrane	zinc ion binding			lung(1)|prostate(1)|skin(1)	3						AACACTCCCTCAAAGAGTGGT	0.602000														20			26		0	0	0.001512	0	0
FAM5C	339479	broad.mit.edu	37	1	190067807	190067807	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:190067807G>A	uc001gse.1	-	7	1874	c.1642C>T	c.(1642-1644)Cat>Tat	p.H548Y	FAM5C_uc010pot.1_Missense_Mutation_p.H446Y	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	548						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AAAATCATATGGACCAGACTT	0.468000														63			83		0	0	0.00361006	0	0
CCDC39	339829	broad.mit.edu	37	3	180372635	180372635	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:180372635C>T	uc010hxe.3	-	6	960	c.845G>A	c.(844-846)aGa>aAa	p.R282K	CCDC39_uc003fkn.3_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	282					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CACAGAAATTCTTTTCTCAAA	0.358000														30			13		0	0	0.00244969	0	0
C14orf43	91748	broad.mit.edu	37	14	74206606	74206606	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:74206606G>A	uc010tud.1	-	0	353	c.106C>T	c.(106-108)Cag>Tag	p.Q36*	C14orf43_uc001xot.3_Nonsense_Mutation_p.Q36*|C14orf43_uc001xou.3_Nonsense_Mutation_p.Q36*|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	36					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		ATGGACTGCTGGGGGGGCTGC	0.667000														31			38		0	0	0.00148497	0	0
ZNF560	147741	broad.mit.edu	37	19	9581123	9581123	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:9581123C>T	uc002mlp.1	-	6	603	c.393G>A	c.(391-393)caG>caA	p.Q131Q	ZNF560_uc010dwr.1_Silent_p.Q25Q	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	131	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ACAGGTTTCTCTGAGCTGGGT	0.478000														63			17		0	0	0.000566183	0	0
TTN	7273	broad.mit.edu	37	2	179577159	179577159	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:179577159C>T	uc021vsy.1	-	91	23983	c.23758G>A	c.(23758-23760)Gaa>Aaa	p.E7920K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E4581K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8847	Ig-like 61.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCGATTTTTCAGTCGTAGTT	0.423000														31			14		0	0	0.00185496	0	0
TCRA	0	broad.mit.edu	37	14	22471635	22471635	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:22471635G>A	uc001wct.4	+	1	163	c.58G>A	c.(58-60)Gga>Aga	p.G20R	TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc010tmm.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 19, partial cds, clone: SEB 336.																		AAGGACCAGTGGAGACTCGGT	0.453000														65			15		0	0	0.000566183	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79746313	79746313	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:79746313T>A	uc003kgr.4	+	9	3592	c.3290T>A	c.(3289-3291)aTt>aAt	p.I1097N	ZFYVE16_uc003kgp.3_Missense_Mutation_p.I1097N|ZFYVE16_uc003kgq.4_Missense_Mutation_p.I1097N|ZFYVE16_uc003kgs.4_Missense_Mutation_p.I1097N|ZFYVE16_uc003kgt.4_Missense_Mutation_p.I185N	NM_001105251	NP_055548	Q7Z3T8	ZFY16_HUMAN	Homo sapiens zinc finger, FYVE domain containing 16 (ZFYVE16), transcript variant 2, mRNA.	1097					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		CAGGCAGAAATTATTATTCTA	0.323000														79			16		0	0	0.00121646	0	0
UMODL1	89766	broad.mit.edu	37	21	43533714	43533714	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:43533714C>T	uc002zag.1	+	11	2520	c.2520C>T	c.(2518-2520)tcC>tcT	p.S840S	UMODL1_uc002zad.1_Silent_p.S640S|UMODL1_uc002zae.1_Silent_p.S768S|UMODL1_uc002zaf.1_Silent_p.S712S	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	746	SEA 2.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TCATGGTCTCCAATGTGACCA	0.517000														24			11		0	0	0.00136819	0	0
ZNF317	57693	broad.mit.edu	37	19	9271287	9271287	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:9271287C>T	uc002mku.3	+	6	1271	c.966C>T	c.(964-966)atC>atT	p.I322I	ZNF317_uc002mkv.3_Silent_p.I181I|ZNF317_uc002mkw.3_Silent_p.I290I|ZNF317_uc002mkx.3_Silent_p.I237I|ZNF317_uc002mky.3_Silent_p.I205I	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	Homo sapiens zinc finger protein 317 (ZNF317), transcript variant 1, mRNA.	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I322I(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GCCACCTCATCGCACACAAGA	0.587000														59			7		0	0	0.000274275	0	0
FRMPD2	143162	broad.mit.edu	37	10	49381107	49381107	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:49381107G>A	uc001jgi.3	-	24	3436	c.3105C>T	c.(3103-3105)gtC>gtT	p.V1035V	FRMPD2_uc001jgh.3_Silent_p.V1003V|FRMPD2_uc001jgj.3_Silent_p.V1004V|FRMPD2_uc001jgf.3_Silent_p.V46V|FRMPD2_uc001jgg.3_5'UTR|FRMPD2_uc001jgk.3_5'UTR	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	1035	PDZ 2.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TACTCCTGGGGACTCTTCTCT	0.512000														43			18		0	0	0.00127121	0	0
TMX4	56255	broad.mit.edu	37	20	7980462	7980462	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:7980462G>A	uc002wmx.1	-	3	517	c.384C>T	c.(382-384)ttC>ttT	p.F128F		NM_021156	NP_066979	Q9H1E5	TMX4_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 4 (TMX4), mRNA.	128	Thioredoxin.				cell redox homeostasis|electron transport chain|transport	integral to membrane				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						GCAGGTCTTCGAAGATTCCTG	0.398000														22			8		0	0	0.000274275	0	0
LPHN3	23284	broad.mit.edu	37	4	62598791	62598791	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:62598791G>A	uc010ihh.3	+	4	887	c.714G>A	c.(712-714)aaG>aaA	p.K238K	LPHN3_uc003hcq.4_Silent_p.K238K|LPHN3_uc010ihg.1_Silent_p.K306K|LPHN3_uc003hcs.1_Silent_p.K67K	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	238	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTAGGATAAAGAGTGGAGAGG	0.463000														5			6		0	0	0.00116845	0	0
CD86	942	broad.mit.edu	37	3	121825205	121825205	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:121825205G>A	uc003eet.3	+	3	689	c.561G>A	c.(559-561)caG>caA	p.Q187Q	CD86_uc011bjo.2_Silent_p.Q105Q|CD86_uc011bjp.2_Silent_p.Q75Q|CD86_uc003eeu.3_Silent_p.Q181Q|CD86_uc021xcz.1_Silent_p.Q181Q	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	187	Ig-like C2-type.				T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	GTGTTATGCAGAAATCTCAAG	0.398000														59			36		0	0	0.00428921	0	0
GCK	2645	broad.mit.edu	37	7	44189570	44189570	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:44189570C>T	uc003tkl.2	-	4	1047	c.577G>A	c.(577-579)Ggg>Agg	p.G193R	GCK_uc003tkj.1_Missense_Mutation_p.G192R|GCK_uc003tkk.1_Missense_Mutation_p.G194R	NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	193					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	p.R192Q(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CCCCTCACCCCTCTCCGTTTG	0.632000														152			73		0	0	0.00361006	0	0
CAPN13	92291	broad.mit.edu	37	2	30966434	30966434	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:30966434C>T	uc021vfn.1	-	11	1292	c.1260G>A	c.(1258-1260)gaG>gaA	p.E420E	CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Silent_p.E416E|CAPN13_uc002rno.3_5'UTR	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	420					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GTGGAAATTTCTCCCGGAACC	0.478000														35			33		0	0	0.0024448	0	0
GRM1	2911	broad.mit.edu	37	6	146755485	146755485	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:146755485G>A	uc010khw.1	+	8	3608	c.3138G>A	c.(3136-3138)ccG>ccA	p.P1046P	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	1046					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCGCGATCCCGGATTTTCACG	0.677000														32			8		0	0	0.00307968	0	0
ATP5F1	515	broad.mit.edu	37	1	112002250	112002251	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:112002250_112002251AC>TT	uc009wgf.1	+	6	1142_1143	c.1126_1127AC>TT	c.(1126-1128)aca>TTa	p.T376L	ATP5F1_uc001ebc.3_Missense_Mutation_p.T229L	NM_001688	NP_001679	P24539	AT5F1_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 (ATP5F1), nuclear gene encoding mitochondrial protein, mRNA.	229					ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AAGCATCTCCACACAGCAGGTA	0.426000														15			9		0	0	6.4e-05	0	0
CDHR2	54825	broad.mit.edu	37	5	176017435	176017435	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:176017435G>A	uc021yie.1	+	26	3637	c.3363G>A	c.(3361-3363)cgG>cgA	p.R1121R	CDHR2_uc003mem.2_Silent_p.R1121R|CDHR2_uc003men.1_Silent_p.R1121R	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	1121					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GGATGATCCGGAATGATCAGG	0.662000														32			20		0	0	0.00188189	0	0
C12orf63	374467	broad.mit.edu	37	12	97052043	97052043	+	Silent	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:97052043T>C	uc021rcc.1	+	4	732	c.654T>C	c.(652-654)ctT>ctC	p.L218L				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	218										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AGCGCCAGCTTCTGCTGAGAA	0.403000														39			31		0	0	0.0024448	0	0
DOCK5	80005	broad.mit.edu	37	8	25240208	25240208	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:25240208T>C	uc003xeg.3	+	39	4182	c.4045T>C	c.(4045-4047)Tat>Cat	p.Y1349H	DOCK5_uc003xek.3_Missense_Mutation_p.Y138H|DOCK5_uc003xei.3_Missense_Mutation_p.Y919H|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	1349	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGCCTCATTTTATGAGAACAT	0.403000														13			7		0	0	0.00198382	0	0
NPY5R	4889	broad.mit.edu	37	4	164271826	164271826	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:164271826C>T	uc003iqn.3	+	3	583	c.401C>T	c.(400-402)tCa>tTa	p.S134L	NPY5R_uc021xtw.1_Missense_Mutation_p.S134L	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	134					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		p.S134T(1)|p.S134S(1)|p.L130fs*9(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				ATTTTAATATCAATTGCCATT	0.358000														72			56		0	0	0.00361006	0	0
TECPR1	25851	broad.mit.edu	37	7	97852324	97852324	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:97852324C>T	uc003upg.3	-	20	3111	c.2906G>A	c.(2905-2907)gGc>gAc	p.G969D		NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.	969						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTCCGACACGCCCAGGCGGCA	0.652000														13			6		0	0	0.00307968	0	0
FMO1	2326	broad.mit.edu	37	1	171254618	171254618	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:171254618G>A	uc009wvz.3	+	8	1670	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	FMO1_uc010pme.2_Missense_Mutation_p.E449K|FMO1_uc001ghl.3_Missense_Mutation_p.E512K|FMO1_uc001ghm.3_Missense_Mutation_p.E512K	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	512					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATCTCCCTTTGAAAGTTTTCT	0.408000														40			15		0	0	0.000958276	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51919420	51919420	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:51919420G>A	uc002pwo.3	-	5	977	c.755_splice	c.e5-1	p.A252_splice	SIGLEC10_uc002pwp.3_Splice_Site_p.A194_splice|SIGLEC10_uc021uyl.1_Splice_Site_p.A169_splice|SIGLEC10_uc002pwq.3_Splice_Site_p.A194_splice|SIGLEC10_uc010ycz.2_Splice_Site_p.A204_splice|SIGLEC10_uc002pws.2_Intron|SIGLEC10_uc002pwr.3_Splice_Site_p.A252_splice|SIGLEC10_uc010ycy.2_Intron|SIGLEC10_uc010eow.3_Silent_p.A64A|LOC100129083_uc021uym.1_Intron	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	252	Ig-like C2-type 2.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GGGGCTCCAGGGCTggagtgg	0.572000														9			5		0	0	0.000602214	0	0
PDE10A	10846	broad.mit.edu	37	6	165957014	165957014	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:165957014G>A	uc003qun.3	-	2	325	c.80C>T	c.(79-81)cCc>cTc	p.P27L	PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_5'UTR|PDE10A_uc003quo.3_Missense_Mutation_p.P37L	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	27					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TAATACCTGGGGGTGAAGAGA	0.353000														38			22		0	0	0.00188189	0	0
PTPRT	11122	broad.mit.edu	37	20	40747085	40747085	+	Silent	SNP	G	A	A	rs34284587		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:40747085G>A	uc002xkg.3	-	20	3124	c.2940C>T	c.(2938-2940)tcC>tcT	p.S980S	PTPRT_uc010ggj.3_Silent_p.S999S|PTPRT_uc010ggi.3_Silent_p.S183S	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	980	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.S1002S(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CGATGCTGGCGGAGTTCTCCT	0.537000														55			33		0	0	0.00170553	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30688391	30688391	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:30688391G>A	uc010gvu.3	-	8	1606	c.1521C>T	c.(1519-1521)tcC>tcT	p.S507S	TBC1D10A_uc003ahd.3_5'Flank|TBC1D10A_uc003ahf.3_Intron|TBC1D10A_uc003ahg.3_Intron|TBC1D10A_uc003ahh.3_Intron|TBC1D10A_uc003ahi.3_Intron|TBC1D10A_uc010gvq.3_Intron|TBC1D10A_uc010gvr.3_5'Flank|TBC1D10A_uc010gvs.2_5'Flank|TBC1D10A_uc003ahk.4_Silent_p.S500S	NM_001204240	NP_001191169	Q9BXI6	TB10A_HUMAN	Homo sapiens TBC1 domain family, member 10A (TBC1D10A), transcript variant 1, mRNA.	500	Binding to the PDZ domain of EBP50.					intracellular|microvillus	PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity	p.Y507Y(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CACTCTCTTGGGACGTCAAGC	0.587000														148			75		0	0	0.00361006	0	0
CSF2RA	1438	broad.mit.edu	37	X	1404810	1404810	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:1404810C>T	uc010nct.2	+	4	538	c.216C>T	c.(214-216)ccC>ccT	p.P72P	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Silent_p.P72P|CSF2RA_uc004cpq.2_Silent_p.P72P|CSF2RA_uc004cpn.2_Silent_p.P72P|CSF2RA_uc004cpo.2_Silent_p.P72P|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Intron|CSF2RA_uc004cpp.2_Silent_p.P72P|CSF2RA_uc010ncv.2_Silent_p.P72P|CSF2RA_uc004cpr.2_Silent_p.P72P	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	72						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TCGTGGAACCCAGGGTGAGAC	0.517000														175			77		0	0	0.00361006	0	0
KIAA1549	57670	broad.mit.edu	37	7	138601809	138601809	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:138601809T>C	uc011kql.2	-	1	2612	c.2563A>G	c.(2563-2565)Acc>Gcc	p.T855A	KIAA1549_uc011kqj.2_Missense_Mutation_p.T855A	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	855						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGGAAGGGGGTTGCTTCAGAA	0.577000			O	BRAF	pilocytic astrocytoma									17			15		0	0	0.000566183	0	0
LPCAT4	254531	broad.mit.edu	37	15	34654491	34654491	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:34654491A>G	uc001zig.3	-	9	1010	c.916T>C	c.(916-918)Ttt>Ctt	p.F306L		NM_153613	NP_705841	Q643R3	LPCT4_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 4 (LPCAT4), mRNA.	306					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						CTCCCTACAAACTCACATTCG	0.547000														68			48		0	0	0.00361006	0	0
TCIRG1	10312	broad.mit.edu	37	11	67811694	67811694	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:67811694C>T	uc001one.3	+	8	1032	c.903C>T	c.(901-903)gcC>gcT	p.A301A	TCIRG1_uc001ong.3_Silent_p.A85A	NM_006019	NP_006044	Q13488	VPP3_HUMAN	Homo sapiens T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 (TCIRG1), transcript variant 1, mRNA.	301					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						AGATGAAGGCCGTGTACCTGG	0.672000														5			4		0	0	0.00024832	0	0
NT5DC3	51559	broad.mit.edu	37	12	104179185	104179185	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:104179185G>A	uc010swe.1	-	11	1298	c.1257C>T	c.(1255-1257)atC>atT	p.I419I		NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN	Homo sapiens 5'-nucleotidase domain containing 3 (NT5DC3), mRNA.	419							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						CCGTGTTCATGATTTTGAGCT	0.438000														50			37		0	0	0.00128727	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377496	125377496	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:125377496C>T	uc011lyy.2	+	0	480	c.480C>T	c.(478-480)acC>acT	p.T160T		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily Q, member 1 (OR1Q1), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						TGCTGCATACCTTTCTCATAG	0.498000														18			26		0	0	0.000878237	0	0
KPNA6	23633	broad.mit.edu	37	1	32632830	32632830	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:32632830C>T	uc010ogy.2	+	11	1219	c.1192C>T	c.(1192-1194)Cgt>Tgt	p.R398C	KPNA6_uc001bug.3_Missense_Mutation_p.R393C|KPNA6_uc001buh.3_Missense_Mutation_p.R168C|KPNA6_uc010ogx.2_Missense_Mutation_p.R390C	NM_012316	NP_036448	O60684	IMA7_HUMAN	Homo sapiens karyopherin alpha 6 (importin alpha 7) (KPNA6), mRNA.	393	NLS binding site (minor) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AGCAGAGTTTCGTACAAGGAA	0.463000														157			90		0	0	0.00361006	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52132613	52132613	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:52132613G>A	uc002pxe.3	-	2	837	c.698C>T	c.(697-699)tCc>tTc	p.S233F		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	233					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CCACTCACAGGAGACATTGAG	0.577000														43			20		0	0	0.000720815	0	0
NCAN	1463	broad.mit.edu	37	19	19338311	19338311	+	Missense_Mutation	SNP	C	T	T	rs138659174		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:19338311C>T	uc002nlz.3	+	7	1981	c.1882C>T	c.(1882-1884)Cca>Tca	p.P628S	NCAN_uc010ecc.1_Missense_Mutation_p.P192S	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	628					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GGCCACCTCCCCAGATCTCCC	0.632000														29			27		0	0	0.00127121	0	0
DSCAM	1826	broad.mit.edu	37	21	42064779	42064779	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:42064779G>A	uc002yyq.1	-	2	917	c.465C>T	c.(463-465)atC>atT	p.I155I	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	155	Ig-like C2-type 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGACGACAGTGATGTACGCCT	0.522000														40			21		0	0	0.00121646	0	0
CYP3A4	1576	broad.mit.edu	37	7	99367468	99367468	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:99367468G>A	uc003urv.2	-	5	551	c.444C>T	c.(442-444)atC>atT	p.I148I	CYP3A4_uc003urw.2_Silent_p.I148I|CYP3A4_uc011kiz.2_Intron	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	148					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	ACTGGGCAATGATAGGGACCA	0.498000														50			14		0	0	0.00278032	0	0
MYPN	84665	broad.mit.edu	37	10	69881563	69881563	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:69881563G>A	uc001jnm.4	+	2	553	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	MYPN_uc001jnl.1_Missense_Mutation_p.R123Q|MYPN_uc001jnn.4_Intron|MYPN_uc001jno.4_Missense_Mutation_p.R123Q|MYPN_uc001jnp.1_Missense_Mutation_p.R123Q|MYPN_uc009xps.3_Missense_Mutation_p.R123Q|MYPN_uc009xpt.3_Missense_Mutation_p.R123Q|MYPN_uc010qit.2_5'UTR|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	123	Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GATAACCCTCGAAGTCCCACC	0.433000														28			7		0	0	0.000274275	0	0
TRIM3	10612	broad.mit.edu	37	11	6470603	6470603	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:6470603G>A	uc001mdh.3	-	11	2411	c.2015C>T	c.(2014-2016)cCc>cTc	p.P672L	TRIM3_uc001mdi.3_Missense_Mutation_p.P672L|TRIM3_uc010raj.2_Missense_Mutation_p.P553L|TRIM3_uc009yfd.3_Missense_Mutation_p.P672L|TRIM3_uc010rak.1_Missense_Mutation_p.P672L	NM_006458	NP_006449	O75382	TRIM3_HUMAN	Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA.	672					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACTCCTGTGGGGGCATTGAA	0.592000														23			14		0	0	0.00316338	0	0
SYTL4	94121	broad.mit.edu	37	X	99944877	99944877	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:99944877G>A	uc004egd.4	-	10	1244	c.888C>T	c.(886-888)tcC>tcT	p.S296S	SYTL4_uc010nnb.3_5'UTR|SYTL4_uc010nnc.3_Silent_p.S296S|SYTL4_uc004ege.4_Silent_p.S296S|SYTL4_uc004egf.4_Silent_p.S296S|SYTL4_uc004egg.4_Silent_p.S296S	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	296					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGCCTGGGACGGATTTGCTTC	0.423000														12			20		0	0	0.00229938	0	0
OR6N1	128372	broad.mit.edu	37	1	158736456	158736456	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:158736456C>T	uc010piq.2	-	0	17	c.17G>A	c.(16-18)tGg>tAg	p.W6*		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA.	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TACCTGGCTCCAGTTCCCTGT	0.463000														16			5		0	0	0.00198382	0	0
ZNF503	84858	broad.mit.edu	37	10	77158574	77158574	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:77158574G>C	uc001jxg.3	-	1	2210	c.1874C>G	c.(1873-1875)cCg>cGg	p.P625R	ZNF503-AS2_uc010qlf.2_5'Flank	NM_032772	NP_116161	Q96F45	ZN503_HUMAN	Homo sapiens zinc finger protein 503 (ZNF503), mRNA.	625					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.G624G(1)		lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GGAGTAGTACGGTCCGGTGGC	0.726000														9			3		0	0	0.00024832	0	0
GTDC1	79712	broad.mit.edu	37	2	144764978	144764978	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:144764978T>G	uc002tvp.3	-	6	925	c.646A>C	c.(646-648)Aag>Cag	p.K216Q	GTDC1_uc002tvo.3_Missense_Mutation_p.K216Q|GTDC1_uc021vqf.1_Missense_Mutation_p.K216Q|GTDC1_uc010fnn.3_Missense_Mutation_p.K216Q|GTDC1_uc002tvs.3_Missense_Mutation_p.K184Q|GTDC1_uc021vqg.1_Intron|GTDC1_uc002tvr.3_Missense_Mutation_p.K216Q|GTDC1_uc010fno.3_Missense_Mutation_p.K87Q|GTDC1_uc002tvt.2_Missense_Mutation_p.K216Q	NM_001006636	NP_001158101	Q4AE62	GTDC1_HUMAN	Homo sapiens glycosyltransferase-like domain containing 1 (GTDC1), transcript variant 1, mRNA.	216					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TTAAAATTCTTCAATAAATCC	0.418000														20			5		0	0	0.00116845	0	0
EXD3	54932	broad.mit.edu	37	9	140267934	140267934	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:140267934T>A	uc004cmp.2	-	3	434	c.238A>T	c.(238-240)Atc>Ttc	p.I80F	EXD3_uc010ncg.1_Missense_Mutation_p.I19F|EXD3_uc004cmr.3_Missense_Mutation_p.I19F|EXD3_uc004cms.3_Missense_Mutation_p.I80F	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 3 (EXD3), mRNA.	80					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						TGGTGGGAGATCCAGGCCGCC	0.697000														6			7		0	0	0.00198382	0	0
SSPO	23145	broad.mit.edu	37	7	149482056	149482056	+	Silent	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:149482056T>C	uc010lpk.3	+	19	2844	c.2844T>C	c.(2842-2844)ccT>ccC	p.P948P	SSPO_uc010lpl.1_Missense_Mutation_p.L284P	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	948					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACTCCTGCCCTGCAGGCAGTA	0.617000														16			5		0	0	0.000602214	0	0
SPHKAP	80309	broad.mit.edu	37	2	228846549	228846549	+	Missense_Mutation	SNP	G	A	A	rs62621004		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:228846549G>A	uc002vpq.2	-	11	5034	c.4987C>T	c.(4987-4989)Cgg>Tgg	p.R1663W	SPHKAP_uc002vpp.2_Missense_Mutation_p.R1634W|SPHKAP_uc010zlx.1_3'UTR	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1663						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CAGGACTTCCGATGAACCAGC	0.493000														19			18		0	0	0.00229938	0	0
ABCA4	24	broad.mit.edu	37	1	94564365	94564365	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:94564365G>A	uc001dqh.3	-	5	857	c.753C>T	c.(751-753)ttC>ttT	p.F251F	ABCA4_uc010otn.1_Silent_p.F251F	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	251					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGAAGAGCTTGAAGAAGTCCA	0.582000														39			19		0	0	0.00074312	0	0
ROR1	4919	broad.mit.edu	37	1	64605949	64605949	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:64605949G>A	uc001dbj.2	+	5	1167	c.768G>A	c.(766-768)gaG>gaA	p.E256E	ROR1_uc001dbi.4_Silent_p.E256E|AK096291_uc001dbl.3_Intron	NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	256	FZ.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						AAATCCTGGAGAATGTCCTGT	0.488000														79			27		0	0	0.00178596	0	0
LARP4B	23185	broad.mit.edu	37	10	930436	930436	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:930436G>A	uc001ifs.1	-	1	133	c.92C>T	c.(91-93)cCt>cTt	p.P31L		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	31							RNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TTGAGATATAGGACCATTCAT	0.328000														25			11		0	0	0.000978159	0	0
LRP2	4036	broad.mit.edu	37	2	170068590	170068590	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:170068590C>T	uc002ues.3	-	36	6381	c.6168G>A	c.(6166-6168)cgG>cgA	p.R2056R		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2056	EGF-like 8.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GAGAGCAGGACCGATTATCAG	0.458000														70			9		0	0	0.000442599	0	0
CFB	629	broad.mit.edu	37	6	31918076	31918076	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:31918076G>A	uc003nyj.4	+	11	1798	c.1520G>A	c.(1519-1521)gGa>gAa	p.G507E	CFB_uc011dor.2_Missense_Mutation_p.G1009E|CFB_uc003nyi.2_Missense_Mutation_p.G507E	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	507	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	p.K506K(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CCTTCAAAGGGACACGAGAGC	0.493000														264			63		0	0	0.00361006	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25258337	25258337	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:25258337G>A	uc002dod.4	-	4	1587	c.1180C>T	c.(1180-1182)Cga>Tga	p.R394*	ZKSCAN2_uc010vcl.2_Nonsense_Mutation_p.R190*|ZKSCAN2_uc002doe.2_Nonsense_Mutation_p.R394*	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	394					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R394*(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		AACTTGGTTCGACACTGTTCT	0.473000														103			68		0	0	0.00361006	0	0
NISCH	11188	broad.mit.edu	37	3	52524782	52524782	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:52524782C>T	uc003ded.4	+	18	3809	c.3675C>T	c.(3673-3675)ttC>ttT	p.F1225F	NISCH_uc003dee.4_Silent_p.F714F|NISCH_uc003deg.1_Non-coding_Transcript	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	1225					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CCCAGTGCTTCGTGCTAAAGC	0.532000														103			68		0	0	0.00361006	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77528847	77528847	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:77528847G>A	uc001dhi.3	+	4	1142	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	ST6GALNAC5_uc010ori.2_3'UTR|ST6GALNAC5_uc009wbw.3_Non-coding_Transcript|ST6GALNAC5_uc001dhj.3_5'Flank	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 (ST6GALNAC5), mRNA.	323					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						CTGGAAACCAGAATCACTTGC	0.433000														18			15		0	0	0.000958276	0	0
ACPL2	92370	broad.mit.edu	37	3	141011256	141011256	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:141011256C>T	uc003etu.3	+	7	951	c.652C>T	c.(652-654)Ctt>Ttt	p.L218F	ACPL2_uc003etv.3_Missense_Mutation_p.L218F|ACPL2_uc011bna.2_Missense_Mutation_p.L180F|ACPL2_uc011bnb.2_Missense_Mutation_p.L201F	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN	Homo sapiens acid phosphatase-like 2 (ACPL2), transcript variant 1, mRNA.	218						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						GCTGGCCTTGCTTTATGGCTT	0.483000														47			24		0	0	0.00395357	0	0
KCNAB1	7881	broad.mit.edu	37	3	155838494	155838494	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:155838494G>A	uc003far.2	+	0	158	c.94G>A	c.(94-96)Gac>Aac	p.D32N	KCNAB1_uc011bon.1_Missense_Mutation_p.D32N	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 1 (KCNAB1), transcript variant 1, mRNA.	32						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.N31D(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGCAGGGAAAGACAAATCTCC	0.567000														70			46		0	0	0.0025221	0	0
STK31	56164	broad.mit.edu	37	7	23871957	23871957	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:23871957G>A	uc003sws.4	+	23	3099	c.3032G>A	c.(3031-3033)aGa>aAa	p.R1011K	STK31_uc003swt.4_Missense_Mutation_p.R988K|STK31_uc011jze.2_Missense_Mutation_p.R988K|STK31_uc010kuq.3_Missense_Mutation_p.R988K|STK31_uc003swv.1_Missense_Mutation_p.R177K	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	1011	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GAGAAGACAAGAAATGGTGAA	0.313000														118			60		0	0	0.00361006	0	0
REC8	9985	broad.mit.edu	37	14	24649108	24649108	+	Silent	SNP	C	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:24649108C>A	uc001wmr.3	+	18	1978	c.1551C>A	c.(1549-1551)ctC>ctA	p.L517L	REC8_uc001wms.3_Silent_p.L517L	NM_005132	NP_005123	O95072	REC8_HUMAN	Homo sapiens REC8 homolog (yeast) (REC8), transcript variant 1, mRNA.	518					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		TCTACCTGCTCCTGGGTGAGT	0.637000														28			20		2.4624e-09	5.58923e-09	0.00121646	1	0
LAMP5	24141	broad.mit.edu	37	20	9510386	9510386	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:9510386G>A	uc002wni.2	+	5	1257	c.762G>A	c.(760-762)gcG>gcA	p.A254A	LAMP5_uc010zrc.2_Silent_p.A210A	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA.	254						integral to membrane											TAACACTCGCGATTTACCACG	0.547000														40			24		0	0	0.000720815	0	0
DNAH5	1767	broad.mit.edu	37	5	13719066	13719066	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:13719066G>A	uc003jfd.2	-	71	12466	c.12424C>T	c.(12424-12426)Ctc>Ttc	p.L4142F	DNAH5_uc003jfc.2_Missense_Mutation_p.L310F	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4142	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATCTGAAGGAGTGTAATGGGA	0.468000									Kartagener syndrome					68			9		0	0	0.000442599	0	0
GGT5	2687	broad.mit.edu	37	22	24622626	24622626	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:24622626C>T	uc002zzp.4	-	6	1428	c.1011G>A	c.(1009-1011)ggG>ggA	p.G337G	GGT5_uc002zzo.4_Silent_p.G337G|GGT5_uc002zzr.4_Silent_p.G305G|GGT5_uc002zzq.4_Silent_p.G305G|GGT5_uc011ajm.2_Silent_p.G260G|GGT5_uc011ajn.1_Non-coding_Transcript	NM_001099781	NP_001093251	P36269	GGT5_HUMAN	Homo sapiens gamma-glutamyltransferase 5 (GGT5), transcript variant 1, mRNA.	337					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						TTCGAGGGTCCCCCAGCCTCC	0.607000														36			19		0	0	0.00121646	0	0
ZMYM6	9204	broad.mit.edu	37	1	35477493	35477493	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:35477493G>A	uc001byh.3	-	7	1288	c.1060C>T	c.(1060-1062)Cag>Tag	p.Q354*	ZMYM6_uc001byf.1_Nonsense_Mutation_p.Q354*|ZMYM6_uc010oht.2_Nonsense_Mutation_p.Q257*|ZMYM6_uc009vup.3_Nonsense_Mutation_p.Q160*|ZMYM6_uc009vuq.1_Nonsense_Mutation_p.Q354*|ZMYM6_uc009vur.1_Nonsense_Mutation_p.Q160*	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	Homo sapiens zinc finger, MYM-type 6 (ZMYM6), mRNA.	354					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GATCATACCTGGAAAGCAACC	0.423000														35			16		0	0	0.00316338	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916696	42916696	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:42916696C>T	uc003cmh.3	-	0	938	c.613G>A	c.(613-615)Gag>Aag	p.E205K	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	205					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		TTGCGGAACTCCATGAATAAC	0.527000														50			24		0	0	0.00395357	0	0
PADI2	11240	broad.mit.edu	37	1	17395573	17395573	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:17395573G>A	uc001baf.3	-	15	2046	c.1964C>T	c.(1963-1965)cCc>cTc	p.P655L	PADI2_uc010ocm.2_Missense_Mutation_p.P539L	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA.	655					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GAAGGTGAAGGGCTTCCTGCG	0.602000														65			6		0	0	0.00198382	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475968	140475968	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140475968C>T	uc003lil.3	+	0	1732	c.1594C>T	c.(1594-1596)Cgc>Tgc	p.R532C	PCDHB2_uc003lim.1_Missense_Mutation_p.R193C	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	532	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCGAGTTCCGCGTGGGCGC	0.692000														44			25		0	0	0.00332997	0	0
LEPRE1	64175	broad.mit.edu	37	1	43228102	43228102	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:43228102G>A	uc001chx.4	-	1	623	c.510C>T	c.(508-510)ttC>ttT	p.F170F	LEPRE1_uc001chw.2_Silent_p.F170F|LEPRE1_uc001chv.2_Silent_p.F170F|LEPRE1_uc001chy.4_Silent_p.F170F	NM_001243246	NP_001230175	Q32P28	P3H1_HUMAN	Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1 (LEPRE1), transcript variant 3, mRNA.	170					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GATTGCCCACGAAGAAGGTGT	0.463000														107			63		0	0	0.00361006	0	0
GIT2	9815	broad.mit.edu	37	12	110390907	110390907	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:110390907T>G	uc001tps.2	-	12	1397	c.1232A>C	c.(1231-1233)aAc>aCc	p.N411T	TCHP_uc001tpo.1_Intron|GIT2_uc001tpq.2_Missense_Mutation_p.N411T|GIT2_uc001tpv.2_Missense_Mutation_p.N413T|GIT2_uc001tpu.2_Missense_Mutation_p.N411T|GIT2_uc001tpt.2_Missense_Mutation_p.N411T|GIT2_uc010sxu.1_Missense_Mutation_p.N349T|GIT2_uc001tpw.3_Missense_Mutation_p.N411T|GIT2_uc010sxv.1_Missense_Mutation_p.N411T	NM_057169	NP_476510	Q14161	GIT2_HUMAN	Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 2 (GIT2), transcript variant 1, mRNA.	411					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						CTTCTGCCGGTTTGTTTTGCT	0.547000														55			9		0	0	0.000442599	0	0
ZNF239	8187	broad.mit.edu	37	10	44052780	44052780	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:44052780G>A	uc001jaw.4	-	1	1401	c.748C>T	c.(748-750)Ctg>Ttg	p.L250L	ZNF239_uc001jax.4_Silent_p.L250L|ZNF239_uc009xmj.3_Silent_p.L250L|ZNF239_uc009xmk.3_Silent_p.L250L|ZNF239_uc021pph.1_Silent_p.L250L	NM_005674	NP_005665	Q16600	ZN239_HUMAN	Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TGGATAAGCAGACTCGAGCTC	0.488000														59			28		0	0	0.00127121	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140248880	140248880	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140248880C>T	uc003lia.2	+	0	1050	c.192C>T	c.(190-192)ttC>ttT	p.F64F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Silent_p.F64F	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	77	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGCCTGTTCCGGGTGGCGT	0.617000														113			21		0	0	0.00229938	0	0
OR10R2	343406	broad.mit.edu	37	1	158450082	158450082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:158450082G>A	uc010pik.2	+	0	415	c.415G>A	c.(415-417)Ggt>Agt	p.G139S	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M138I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GGGTGTGATGGGTTATGATCG	0.488000														148			38		0	0	0.0025221	0	0
SLC17A6	57084	broad.mit.edu	37	11	22382448	22382448	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:22382448G>A	uc001mqk.3	+	4	992	c.579G>A	c.(577-579)gtG>gtA	p.V193V		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	193					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CACAGGGTGTGACCTACCCAG	0.493000														25			11		0	0	0.00244969	0	0
CCNB3	85417	broad.mit.edu	37	X	50053951	50053951	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:50053951G>A	uc004dox.4	+	5	3080	c.2782G>A	c.(2782-2784)Gaa>Aaa	p.E928K	CCNB3_uc004doy.3_Missense_Mutation_p.E928K|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	928					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGTCCTCTTCGAAGATATGAT	0.468000														10			13		0	0	0.00400662	0	0
QARS	5859	broad.mit.edu	37	3	49136085	49136085	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:49136085G>A	uc003cvx.3	-	19	1909	c.1904C>T	c.(1903-1905)cCt>cTt	p.P635L	QARS_uc011bcc.2_Missense_Mutation_p.P88L|QARS_uc011bcd.2_Missense_Mutation_p.P490L|QARS_uc003cvy.3_Missense_Mutation_p.P490L|QARS_uc011bce.2_Missense_Mutation_p.P624L	NM_005051	NP_005042	P47897	SYQ_HUMAN	Homo sapiens glutaminyl-tRNA synthetase (QARS), mRNA.	635					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	CAGGCCCACAGGCTGGCCCCA	0.582000														23			11		0	0	0.00185496	0	0
PLCE1	51196	broad.mit.edu	37	10	96058180	96058180	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:96058180C>T	uc001kjk.3	+	23	5846	c.5212C>T	c.(5212-5214)Cct>Tct	p.P1738S	PLCE1_uc010qnx.2_Missense_Mutation_p.P1722S|PLCE1_uc001kjm.3_Missense_Mutation_p.P1430S|PLCE1_uc001kjp.3_Missense_Mutation_p.P96S	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1738	PI-PLC Y-box.|Required for activation by RHOA, RHOB, GNA12, GNA13 and G-beta gamma (By similarity).				Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ATCTTCTTCCCCTCTCAACCC	0.453000														57			20		0	0	0.00152264	0	0
NTRK1	4914	broad.mit.edu	37	1	156841478	156841478	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:156841478A>G	uc001fqh.1	+	6	837	c.781A>G	c.(781-783)Aag>Gag	p.K261E	NTRK1_uc001fqf.1_Missense_Mutation_p.K231E|NTRK1_uc009wsi.1_Intron|NTRK1_uc001fqi.1_Missense_Mutation_p.K261E|NTRK1_uc009wsk.1_Missense_Mutation_p.K261E	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	261	Ig-like C2-type 1.				Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CCTCAACAGGAAGAACGTGAC	0.587000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				43			46		0	0	0.00361006	0	0
abParts	0	broad.mit.edu	37	14	106692133	106692133	+	RNA	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:106692133C>T	uc021ser.1	-	1154		c.24953G>A								Parts of antibodies, mostly variable regions.																		ATGGTGAATCCTCGGTGCTCA	0.493000														65			25		0	0	0.000878237	0	0
LANCL2	55915	broad.mit.edu	37	7	55496114	55496114	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:55496114C>T	uc003tqp.3	+	7	1810	c.1232C>T	c.(1231-1233)cCt>cTt	p.P411L		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 2 (bacterial) (LANCL2), mRNA.	411					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|GTP binding|catalytic activity|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding	p.P411A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			TGCCGCATTCCTGACAGACCC	0.448000														58			20		0	0	0.00152264	0	0
FAS	355	broad.mit.edu	37	10	90770295	90770295	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:90770295G>A	uc001kfr.3	+	5	790	c.444_splice	c.e5-1	p.K148_splice	FAS_uc010qna.2_Splice_Site|FAS_uc001kft.3_Splice_Site_p.K148_splice|FAS_uc010qnb.2_Splice_Site|FAS_uc001kfs.3_Splice_Site_p.K148_splice|FAS_uc010qnc.2_Splice_Site|FAS_uc010qnd.2_Splice_Site|FAS_uc010qne.2_Splice_Site|FAS_uc001kfw.3_Splice_Site_p.D112_splice|FAS_uc009xtp.3_Splice_Site	NM_000043	NP_000034	P25445	TNR6_HUMAN	Homo sapiens Fas (TNF receptor superfamily, member 6) (FAS), transcript variant 1, mRNA.	148					activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		TTTTTTTCTAGATGTGAACAT	0.348000														5			3		0	0	0.00024832	0	0
CDH4	1002	broad.mit.edu	37	20	60498741	60498741	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:60498741G>A	uc002ybn.2	+	9	1695	c.1607G>A	c.(1606-1608)cGg>cAg	p.R536Q	CDH4_uc002ybr.2_Missense_Mutation_p.R499Q|CDH4_uc002ybp.2_Missense_Mutation_p.R462Q	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	536	Cadherin 4.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GACCCTGACCGGTTCATGCAG	0.612000														28			14		0	0	0.00074312	0	0
FRMD1	79981	broad.mit.edu	37	6	168475947	168475947	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:168475947G>A	uc003qwo.4	-	1	347	c.282C>T	c.(280-282)ttC>ttT	p.F94F	FRMD1_uc003qwn.4_Silent_p.F26F	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	Homo sapiens FERM domain containing 1 (FRMD1), transcript variant 1, mRNA.	94	FERM.					cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		AGAGGCCAAAGAACTGCGCGT	0.612000														41			19		0	0	0.00332997	0	0
ODF3L2	284451	broad.mit.edu	37	19	467741	467742	+	Missense_Mutation	DNP	GG	AC	AC			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:467741_467742GG>AC	uc002lor.3	-	2	492_493	c.256_257CC>GT	c.(256-258)ccg>GTg	p.P86V	ODF3L2_uc010drp.3_Missense_Mutation_p.P50V	NM_182577	NP_872383	Q3SX64	OD3L2_HUMAN	Homo sapiens outer dense fiber of sperm tails 3-like 2 (ODF3L2), mRNA.	86										large_intestine(1)|lung(2)	3						GATGGGGCCCGGGCTGGTGTCC	0.649000														63			13		0	0	6.4e-05	0	0
KANK4	163782	broad.mit.edu	37	1	62739945	62739945	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:62739945G>A	uc001dah.4	-	2	1208	c.831C>T	c.(829-831)ttC>ttT	p.F277F	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	277	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						AGCCAGGGGTGAACAACACCT	0.542000														18			7		0	0	0.000274275	0	0
TDRD9	122402	broad.mit.edu	37	14	104491926	104491926	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:104491926G>A	uc001yom.4	+	25	2774	c.2744G>A	c.(2743-2745)gGa>gAa	p.G915E	TDRD9_uc001yon.4_Missense_Mutation_p.G653E	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	915					DNA methylation involved in gamete generation|cell differentiation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				CACTTTTGGGGATACAGGATT	0.433000														62			13		0	0	0.00136819	0	0
LRRC18	474354	broad.mit.edu	37	10	50122129	50122129	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:50122129G>A	uc001jhd.3	-	0	152	c.72C>T	c.(70-72)atC>atT	p.I24I	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Silent_p.I24I	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	24						cytoplasm		p.I24F(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CATCAAAAGTGATTTTGATGC	0.468000														28			10		0	0	0.000673444	0	0
ADAM21	8747	broad.mit.edu	37	14	70925538	70925538	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:70925538G>A	uc021rvq.1	+	0	1322	c.1322G>A	c.(1321-1323)aGg>aAg	p.R441K	ADAM21_uc001xmd.3_Missense_Mutation_p.R441K	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	441	Disintegrin.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGCACTCTAAGGCCTGGGGCT	0.507000														14			5		0	0	0.00116845	0	0
NLRP10	338322	broad.mit.edu	37	11	7981857	7981857	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:7981857C>T	uc001mfv.1	-	1	1319	c.1302G>A	c.(1300-1302)agG>agA	p.R434R		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	434	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AATTATGTTTCCTGAGCTCAG	0.522000														73			54		0	0	0.00361006	0	0
GRM5	2915	broad.mit.edu	37	11	88780813	88780813	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:88780813C>T	uc001pcq.3	-	0	428	c.228G>A	c.(226-228)ctG>ctA	p.L76L	GRM5_uc009yvm.3_Silent_p.L76L|GRM5_uc009yvn.2_Silent_p.L76L	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	76					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TGATCCTTTCCAGGGTATGCA	0.542000														8			6		0	0	0.00198382	0	0
AXL	558	broad.mit.edu	37	19	41745213	41745213	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:41745213C>T	uc010ehj.3	+	8	1469	c.1279C>T	c.(1279-1281)Cgc>Tgc	p.R427C	AXL_uc010ehi.1_Missense_Mutation_p.R427C|AXL_uc010ehk.3_Missense_Mutation_p.R427C	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	427	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GGAGGCCTGGCGCCCAGGTAA	0.592000														48			13		0	0	0.00185496	0	0
TNIK	23043	broad.mit.edu	37	3	170908526	170908526	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:170908526C>T	uc003fhh.2	-	5	813	c.468G>A	c.(466-468)ggG>ggA	p.G156G	TNIK_uc003fhi.2_Silent_p.G156G|TNIK_uc003fhj.2_Silent_p.G156G|TNIK_uc003fhk.2_Silent_p.G156G|TNIK_uc003fhl.2_Silent_p.G156G|TNIK_uc003fhm.2_Silent_p.G156G|TNIK_uc003fhn.2_Silent_p.G156G|TNIK_uc003fho.2_Silent_p.G156G	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	156	Protein kinase.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AGACATTTTGCCCTTTAATAT	0.418000														16			5		0	0	0.00116845	0	0
TBX4	9496	broad.mit.edu	37	17	59556019	59556019	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:59556019C>A	uc010ddo.3	+	5	744	c.581C>A	c.(580-582)cCg>cAg	p.P194Q	TBX4_uc002izi.3_Missense_Mutation_p.P194Q|TBX4_uc010woy.2_Missense_Mutation_p.P194Q	NM_018488	NP_060958	P57082	TBX4_HUMAN	Homo sapiens T-box 4 (TBX4), mRNA.	194					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AAGTACCAGCCGCGGCTCCAC	0.542000														69			39		8.16277e-20	1.86957e-19	0.00148497	1	0
OR51F2	119694	broad.mit.edu	37	11	4843091	4843091	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:4843091G>A	uc010qyn.2	+	0	476	c.476G>A	c.(475-477)gGg>gAg	p.G159E		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCAAGATTGGGATGAGCATG	0.463000														78			16		0	0	0.00074312	0	0
TNN	63923	broad.mit.edu	37	1	175053062	175053062	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:175053062G>A	uc001gkl.1	+	4	1338	c.1225G>A	c.(1225-1227)Gac>Aac	p.D409N	TNN_uc010pmx.1_Missense_Mutation_p.D409N	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	409	Fibronectin type-III 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GAGCCGATATGACATCACTGG	0.537000														63			18		0	0	0.000958276	0	0
DOCK3	1795	broad.mit.edu	37	3	51264821	51264821	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:51264821C>T	uc011bds.2	+	15	1508	c.1485C>T	c.(1483-1485)atC>atT	p.I495I		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	495	DHR-1.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity	p.R495S(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AATTGCCTATCCCCATTGACC	0.493000														64			27		0	0	0.00127121	0	0
CDH13	1012	broad.mit.edu	37	16	83704458	83704458	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:83704458G>A	uc010vns.2	+	9	1570	c.1306G>A	c.(1306-1308)Gat>Aat	p.D436N	CDH13_uc002fgx.3_Missense_Mutation_p.D389N|CDH13_uc010vnt.2_Missense_Mutation_p.D135N|CDH13_uc010vnu.2_Missense_Mutation_p.D350N	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	389	Cadherin 3.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TGAAGATAAGGATGACCCCAC	0.488000														49			19		0	0	0.00121646	0	0
ANO4	121601	broad.mit.edu	37	12	101430917	101430917	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:101430917C>T	uc010svm.1	+	9	1458	c.886C>T	c.(886-888)Ccc>Tcc	p.P296S	ANO4_uc001thw.2_Missense_Mutation_p.P261S|ANO4_uc001thx.2_Missense_Mutation_p.P296S	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	296						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AGCTGCGTTTCCCCTGCATGA	0.348000										HNSCC(74;0.22)				96			35		0	0	0.00195071	0	0
GH2	2689	broad.mit.edu	37	17	61958757	61958757	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:61958757G>A	uc002jcl.1	-	1	195	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C	GH2_uc002jcn.1_Missense_Mutation_p.R45C|GH2_uc002jco.1_Missense_Mutation_p.R45C|GH2_uc002jcm.1_Missense_Mutation_p.R45C	NM_022557	NP_072051	P01242	SOM2_HUMAN	Homo sapiens growth hormone 2 (GH2), transcript variant 2, mRNA.	45						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TGGTACAGGCGACGGGCGCGG	0.572000														183			85		0	0	0.00361006	0	0
KIF19	124602	broad.mit.edu	37	17	72338033	72338033	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:72338033C>T	uc002jkm.4	+	2	277	c.139C>T	c.(139-141)Cca>Tca	p.P47S	KIF19_uc002jkj.2_Missense_Mutation_p.P47S|KIF19_uc002jkk.2_Missense_Mutation_p.P47S|KIF19_uc002jkl.2_Missense_Mutation_p.P47S	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	47	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.D46E(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						TCTCATGGACCCAATGGAGGA	0.617000														81			36		0	0	0.00428921	0	0
ELOVL7	79993	broad.mit.edu	37	5	60063651	60063651	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:60063651C>T	uc003jsi.4	-	5	536	c.336_splice	c.e5+1	p.R112_splice	ELOVL7_uc011cqo.2_Splice_Site_p.R25_splice|ELOVL7_uc010iwk.3_Splice_Site_p.R112_splice|ELOVL7_uc003jsj.4_Splice_Site_p.R99_splice	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN	Homo sapiens ELOVL fatty acid elongase 7 (ELOVL7), transcript variant 1, mRNA.	112					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				GAAACTTACCCTCAAAGCTGT	0.368000														39			30		0	0	0.0024448	0	0
KCNIP1	30820	broad.mit.edu	37	5	170148905	170148905	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:170148905G>A	uc003mas.3	+	4	887	c.358G>A	c.(358-360)Gag>Aag	p.E120K	KCNIP1_uc003map.3_Missense_Mutation_p.E118K|KCNIP1_uc003mat.3_Missense_Mutation_p.E109K|KCNIP1_uc010jjp.3_Missense_Mutation_p.E81K|KCNIP1_uc010jjq.3_Missense_Mutation_p.E134K	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Homo sapiens Kv channel interacting protein 1 (KCNIP1), transcript variant 1, mRNA.	120	EF-hand 2.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGTGAAGTTCGAGGTACGCTC	0.547000														93			8		0	0	0.000274275	0	0
PSD2	84249	broad.mit.edu	37	5	139193026	139193026	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:139193026T>G	uc003leu.1	+	2	709	c.504T>G	c.(502-504)gaT>gaG	p.D168E		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	168					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTCACGGATGAGAGCGACA	0.652000														23			19		0	0	0.00152264	0	0
CD93	22918	broad.mit.edu	37	20	23065195	23065195	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:23065195C>T	uc002wsv.3	-	0	1783	c.1635G>A	c.(1633-1635)agG>agA	p.R545R		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	545					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGCTGGGCTCCCTCCAGACGC	0.642000														50			28		0	0	0.00127121	0	0
TTN	7273	broad.mit.edu	37	2	179579103	179579103	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:179579103C>T	uc021vsy.1	-	87	22891	c.22666G>A	c.(22666-22668)Gaa>Aaa	p.E7556K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E4217K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8483	Ig-like 57.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGCTGGTTCCACTCTTGAA	0.408000														36			6		0	0	0.00116845	0	0
OR2M5	127059	broad.mit.edu	37	1	248308997	248308997	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:248308997C>T	uc010pze.2	+	0	548	c.548C>T	c.(547-549)tCc>tTc	p.S183F		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GACTTCCCTTCCCTACTAATC	0.418000														137			25		0	0	0.00332997	0	0
VPS13D	55187	broad.mit.edu	37	1	12374283	12374283	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:12374283G>A	uc001atv.3	+	29	7188	c.7047G>A	c.(7045-7047)caG>caA	p.Q2349Q	VPS13D_uc001atw.3_Silent_p.Q2349Q|VPS13D_uc001atx.3_Silent_p.Q1537Q|VPS13D_uc001aty.1_Silent_p.Q87Q	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2349					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATGCTGGGCAGAAGACCAGCC	0.458000														11			31		0	0	0.0024448	0	0
FLG	2312	broad.mit.edu	37	1	152282941	152282941	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:152282941C>T	uc001ezu.1	-	2	4457	c.4421G>A	c.(4420-4422)cGa>cAa	p.R1474Q	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1474	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAGCTGTTTCGTGCCTGCTC	0.577000									Ichthyosis					209			74		0	0	0.00361006	0	0
CCDC74B	91409	broad.mit.edu	37	2	130897227	130897227	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:130897227G>A	uc010yzw.1	-	6	2094	c.1350C>T	c.(1348-1350)atC>atT	p.I450I	CCDC74B_uc002tqm.1_Silent_p.I348I|CCDC74B_uc002tqn.1_Silent_p.I282I			Q96LY2	CC74B_HUMAN	Homo sapiens coiled-coil domain containing 74B (CCDC74B), mRNA.	348										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GTGCGGGCAGGATGGCACGCT	0.637000														16			8		0	0	0.000274275	0	0
KCNAB3	9196	broad.mit.edu	37	17	7827297	7827297	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:7827297C>T	uc002gjm.1	-	10	916	c.916G>A	c.(916-918)Gcc>Acc	p.A306T	KCNAB3_uc010vul.1_Non-coding_Transcript	NM_004732	NP_004723	O43448	KCAB3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 3 (KCNAB3), mRNA.	306						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				TTGATGGAGGCCCTGCAAGTA	0.552000														5			12		0	0	0.000978159	0	0
KRT12	3859	broad.mit.edu	37	17	39023203	39023203	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:39023203C>T	uc002hvk.2	-	0	260	c.236G>A	c.(235-237)gGa>gAa	p.G79E		NM_000223	NP_000214	Q99456	K1C12_HUMAN	Homo sapiens keratin 12 (KRT12), mRNA.	79	Gly-rich.|Head.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				ACCCAGTCCTCCTGCCATGGA	0.597000														32			42		0	0	0.00222228	0	0
SLC9A2	6549	broad.mit.edu	37	2	103310886	103310886	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:103310886G>A	uc002tca.3	+	5	1581	c.1439G>A	c.(1438-1440)cGa>cAa	p.R480Q		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	480						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						ATAACTATTCGACCACTGGTG	0.284000														42			7		0	0	0.000274275	0	0
LPAR3	23566	broad.mit.edu	37	1	85331488	85331488	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:85331488G>A	uc001dkl.2	-	0	355	c.316C>T	c.(316-318)Cag>Tag	p.Q106*	LPAR3_uc009wcj.1_Nonsense_Mutation_p.Q106*	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	106					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						AGAAGCCCCTGACGGAGAAAC	0.502000														163			88		0	0	0.00361006	0	0
CSMD3	114788	broad.mit.edu	37	8	113697886	113697886	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:113697886T>A	uc003ynu.3	-	14	2390	c.2231A>T	c.(2230-2232)aAt>aTt	p.N744I	CSMD3_uc003yns.3_Missense_Mutation_p.N16I|CSMD3_uc003ynt.3_Missense_Mutation_p.N704I|CSMD3_uc011lhx.2_Missense_Mutation_p.N640I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	744	CUB 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCAATTTAAATTATTTCCATA	0.413000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				75			18		0	0	0.000958276	0	0
PARP11	57097	broad.mit.edu	37	12	3931093	3931093	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:3931093C>T	uc001qmk.1	-	4	528	c.473G>A	c.(472-474)cGa>cAa	p.R158Q	PARP11_uc001qml.2_Missense_Mutation_p.R165Q|PARP11_uc009zef.2_Non-coding_Transcript|PARP11_uc001qmm.2_Missense_Mutation_p.R84Q|PARP11_uc001qmn.2_Missense_Mutation_p.R84Q	NM_020367	NP_065100	Q9NR21	PAR11_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 11 (PARP11), mRNA.	158	PARP catalytic.						NAD+ ADP-ribosyltransferase activity	p.R158Q(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			TCTTTTAATTCGGTTGCGATC	0.348000														48			39		0	0	0.00128727	0	0
OR11H4	390442	broad.mit.edu	37	14	20711058	20711058	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:20711058C>T	uc010tld.2	+	0	108	c.108C>T	c.(106-108)ttC>ttT	p.F36F		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 4 (OR11H4), mRNA.	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		TTCAGATTTTCCTCTTCTCAT	0.443000														30			4		0	0	0.00024832	0	0
GPI	2821	broad.mit.edu	37	19	34857254	34857254	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:34857254A>G	uc002nvf.3	+	2	414	c.244A>G	c.(244-246)Acc>Gcc	p.T82A	GPI_uc010xrv.2_Missense_Mutation_p.T82A|GPI_uc002nvg.2_Missense_Mutation_p.T43A|GPI_uc010xrw.2_Missense_Mutation_p.T43A|GPI_uc002nvh.1_Missense_Mutation_p.T347A	NM_000175	NP_000166	P06744	G6PI_HUMAN	Homo sapiens glucose-6-phosphate isomerase (GPI), transcript variant 2, mRNA.	43					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					CTGCAGCTTGACCCTCAACAC	0.552000														74			24		0	0	0.000878237	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16812746	16812746	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:16812746C>T	uc010rcu.1	-	19	2764	c.2749G>A	c.(2749-2751)Gaa>Aaa	p.E917K	PLEKHA7_uc001mmo.3_Splice_Site_p.E916_splice|PLEKHA7_uc001mmm.3_Missense_Mutation_p.E19K|PLEKHA7_uc010rcv.2_Missense_Mutation_p.E491K|PLEKHA7_uc001mmn.3_Missense_Mutation_p.E625K	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	916	Pro-rich.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GCTTCATCTTCCTGCTGAGAA	0.617000														14			10		0	0	0.00244969	0	0
ARID2	196528	broad.mit.edu	37	12	46230691	46230691	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:46230691C>T	uc001ros.1	+	7	940	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C	ARID2_uc001ror.3_Missense_Mutation_p.R314C|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	314					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.R314S(2)|p.R314C(2)|p.L313L(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TACCTGTCTTCGTTTCCTATT	0.398000			"""N, S, F"""		hepatocellular carcinoma									66			20		0	0	0.000958276	0	0
TNR	7143	broad.mit.edu	37	1	175372522	175372522	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:175372522G>A	uc001gkp.1	-	1	811	c.730C>T	c.(730-732)Ctc>Ttc	p.L244F	TNR_uc009wwu.1_Missense_Mutation_p.L244F|TNR_uc010pmz.1_Missense_Mutation_p.L244F	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	244	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCCACGCAGAGCCCCCGGGAG	0.642000														32			51		0	0	0.00361006	0	0
FSHR	2492	broad.mit.edu	37	2	49190880	49190880	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:49190880C>T	uc002rww.3	-	9	1190	c.1080G>A	c.(1078-1080)atG>atA	p.M360I	FSHR_uc010fbn.3_Missense_Mutation_p.M334I|FSHR_uc002rwx.3_Missense_Mutation_p.M298I	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	360					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TGTTGTACCCCATGATATCTT	0.448000									Gonadal Dysgenesis, 46 XX					56			14		0	0	0.00244969	0	0
MIR521-2	574481	broad.mit.edu	37	19	54219879	54219879	+	RNA	SNP	T	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:54219879T>A	uc021vag.1	+	0		c.32T>A								Homo sapiens microRNA 521-2 (MIR521-2), microRNA.																		AGGGAAGAATTTTCTCTTGTC	0.413000														102			74		0	0	0.00361006	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125261885	125261885	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:125261885C>T	uc010flu.3	+	7	1443	c.1079C>T	c.(1078-1080)tCc>tTc	p.S360F	CNTNAP5_uc002tno.3_Missense_Mutation_p.S359F	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	359	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.C360F(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GTCACTTTTTCCTGCTCCGAA	0.463000														59			10		0	0	0.000978159	0	0
TRAF6	7189	broad.mit.edu	37	11	36511691	36511691	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:36511691G>A	uc001mwq.2	-	7	1647	c.1266C>T	c.(1264-1266)ctC>ctT	p.L422L	TRAF6_uc001mws.2_Silent_p.L422L	NM_145803	NP_665802	Q9Y4K3	TRAF6_HUMAN	Homo sapiens TNF receptor-associated factor 6 (TRAF6), transcript variant 1, mRNA.	422	MATH.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|membrane protein intracellular domain proteolysis|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|positive regulation of osteoclast differentiation|protein K63-linked ubiquitination|protein autoubiquitination|response to interleukin-1|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein N-terminus binding|protein kinase B binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				AGGGCCAAGGGAGGTGGCTGT	0.483000														31			21		0	0	0.00188189	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763495	92763495	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:92763495C>T	uc003umh.1	-	4	3006	c.1790G>A	c.(1789-1791)aGa>aAa	p.R597K	SAMD9L_uc003umj.1_Missense_Mutation_p.R597K|SAMD9L_uc003umi.1_Missense_Mutation_p.R597K|SAMD9L_uc010lfb.1_Missense_Mutation_p.R597K|SAMD9L_uc003umk.1_Missense_Mutation_p.R597K|SAMD9L_uc010lfc.1_Missense_Mutation_p.R597K|SAMD9L_uc010lfd.1_Missense_Mutation_p.R597K|SAMD9L_uc022ahh.1_Missense_Mutation_p.R597K	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	597										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CATCTTCATTCTTGTTTGTAG	0.348000														54			28		0	0	0.000878237	0	0
OR13C2	392376	broad.mit.edu	37	9	107367647	107367647	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:107367647C>T	uc011lvq.2	-	0	262	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GTCTTTCTTTCTGAAAGGAAG	0.517000														15			19		0	0	0.000720815	0	0
DOCK2	1794	broad.mit.edu	37	5	169108785	169108785	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:169108785G>A	uc003maf.3	+	6	588	c.508G>A	c.(508-510)Gga>Aga	p.G170R	DOCK2_uc011der.2_Non-coding_Transcript	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	170					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding	p.G170R(6)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGATGAAGACGGAAATATCTT	0.413000														92			9		0	0	0.000442599	0	0
SPPL3	121665	broad.mit.edu	37	12	121205323	121205323	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:121205323G>A	uc001tzd.3	-	8	1332	c.847C>T	c.(847-849)Ctt>Ttt	p.L283F	SPPL3_uc001tzc.3_Missense_Mutation_p.L113F	NM_139015	NP_620584	Q8TCT6	PSL4_HUMAN	Homo sapiens signal peptide peptidase-like 3 (SPPL3), mRNA.	284						integral to membrane	aspartic-type endopeptidase activity					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCATAGCGAAGGACAAAGCAT	0.537000														28			17		0	0	0.00074312	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626350	140626350	+	Silent	SNP	A	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140626350A>C	uc003lje.3	+	0	1204	c.1204A>C	c.(1204-1206)Agg>Cgg	p.R402R		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	402	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAATTTCTACAGGCTGGTAAC	0.463000														35			25		0	0	0.00332997	0	0
SYT7	9066	broad.mit.edu	37	11	61290569	61290569	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:61290569C>T	uc001nrv.3	-	7	1137	c.1085G>A	c.(1084-1086)aGc>aAc	p.S362N	SYT7_uc009ynr.3_Missense_Mutation_p.S437N	NM_004200	NP_004191	O43581	SYT7_HUMAN	Homo sapiens synaptotagmin VII (SYT7), transcript variant 2, mRNA.	362	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GTCATTGCGGCTGAGCTTGTC	0.572000														80			16		0	0	0.000958276	0	0
FUT1	2523	broad.mit.edu	37	19	49253686	49253686	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:49253686C>T	uc002pkk.3	-	3	1828	c.853G>A	c.(853-855)Gga>Aga	p.G285R	FUT1_uc021uwy.1_Missense_Mutation_p.G285R	NM_000148	NP_000139	P19526	FUT1_HUMAN	Homo sapiens fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) (FUT1), mRNA.	285					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity	p.D284N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		GCCTCCTGTCCATCGCCAGCA	0.572000														65			18		0	0	0.000958276	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22853738	22853738	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:22853738C>T	uc001yuq.2	+	11	1506	c.1376C>T	c.(1375-1377)tCc>tTc	p.S459F	TUBGCP5_uc001yur.4_Missense_Mutation_p.S459F|TUBGCP5_uc010axz.1_Missense_Mutation_p.S46F	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	459					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CCTCAGGTCTCCCTCCTTTTC	0.542000														20			4		0	0	0.00024832	0	0
LTBP1	4052	broad.mit.edu	37	2	33172839	33172839	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:33172839G>A	uc021vft.1	+	0	471	c.448G>A	c.(448-450)Ggc>Agc	p.G150S		NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	150					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GACCCAGAGCGGCGGAGGCTC	0.721000														7			9		0	0	0.000673444	0	0
MUC16	94025	broad.mit.edu	37	19	9069682	9069682	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:9069682C>T	uc002mkp.3	-	2	17968	c.17764G>A	c.(17764-17766)Gaa>Aaa	p.E5922K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5924	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGGTTTCTTCCACAGAGGGA	0.493000														50			12		0	0	0.000978159	0	0
ADAM12	8038	broad.mit.edu	37	10	127724837	127724837	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:127724837C>T	uc001ljk.2	-	20	2829	c.2416G>A	c.(2416-2418)Ggc>Agc	p.G806S	ADAM12_uc010qul.1_Missense_Mutation_p.G757S	NM_003474	NP_003465	O43184	ADA12_HUMAN	Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.	806					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		ACATTCAGGCCGTTGAGGGGT	0.562000														61			27		0	0	0.00209593	0	0
FRMPD2	143162	broad.mit.edu	37	10	49395278	49395278	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:49395278G>A	uc001jgi.3	-	16	2554	c.2223C>T	c.(2221-2223)acC>acT	p.T741T	FRMPD2_uc001jgh.3_Silent_p.T709T|FRMPD2_uc001jgj.3_Silent_p.T710T	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	741					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GAGAGTCCCAGGTCATTGGCT	0.592000														18			9		0	0	0.000274275	0	0
PAK7	57144	broad.mit.edu	37	20	9561044	9561044	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:9561044G>A	uc002wnl.2	-	4	1283	c.738C>T	c.(736-738)tcC>tcT	p.S246S	PAK7_uc002wnk.2_Silent_p.S246S|PAK7_uc002wnj.2_Silent_p.S246S|PAK7_uc010gby.1_Silent_p.S246S	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	246	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GGCTCTCCTTGGAGCACCCGC	0.537000														47			30		0	0	0.00106085	0	0
SCN10A	6336	broad.mit.edu	37	3	38743371	38743371	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:38743371C>T	uc003ciq.3	-	25	4616	c.4616G>A	c.(4615-4617)tGg>tAg	p.W1539*		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1539					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AAACACATTCCAGCCATTTGT	0.498000														28			13		0	0	0.00185496	0	0
NBEAL1	65065	broad.mit.edu	37	2	204045169	204045169	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:204045169C>T	uc002uzt.3	+	41	6775	c.6442C>T	c.(6442-6444)Cca>Tca	p.P2148S	NBEAL1_uc021vvj.1_Missense_Mutation_p.P851S	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	2148	BEACH.						binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TATGGATAATCCATATGATGT	0.333000														290			170		0	0	0.00361006	0	0
CACNG3	10368	broad.mit.edu	37	16	24373007	24373007	+	Silent	SNP	C	T	T	rs144805488		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:24373007C>T	uc002dmf.3	+	3	1973	c.771C>T	c.(769-771)atC>atT	p.I257I		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	257					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TCCACACCATCCCTTCCACTG	0.592000														54			26		0	0	0.000720815	0	0
IYD	389434	broad.mit.edu	37	6	150690288	150690288	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:150690288C>T	uc003qnx.2	+	0	261	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	IYD_uc003qnv.2_Missense_Mutation_p.R41C|IYD_uc003qnu.2_Missense_Mutation_p.R41C|IYD_uc003qnw.2_Non-coding_Transcript|IYD_uc010kik.2_5'UTR	NM_001164694	NP_001158166	Q6PHW0	IYD1_HUMAN	Homo sapiens iodotyrosine deiodinase (IYD), transcript variant 1, mRNA.	41					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane		p.R41H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		GGCCGAAGCTCGCCCCTGGGT	0.498000														65			36		0	0	0.00375469	0	0
APOB	338	broad.mit.edu	37	2	21231904	21231904	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:21231904G>A	uc002red.3	-	25	7964	c.7836C>T	c.(7834-7836)ttC>ttT	p.F2612F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2612					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.T2611N(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CAGGTGTCTGGAAGGTAGCTT	0.413000														186			44		0	0	0.00361006	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77389870	77389870	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:77389870G>A	uc002ffc.4	-	8	1846	c.1427C>T	c.(1426-1428)tCc>tTc	p.S476F	ADAMTS18_uc010chc.1_Missense_Mutation_p.S64F|ADAMTS18_uc002ffe.1_Missense_Mutation_p.S172F|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	476	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GCGGCTGCAGGAAGACCATGA	0.483000														57			15		0	0	0.00400662	0	0
COL7A1	1294	broad.mit.edu	37	3	48616816	48616816	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:48616816G>A	uc003ctz.2	-	59	5294	c.5293C>T	c.(5293-5295)Cca>Tca	p.P1765S	COL7A1_uc021wxp.1_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1765	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCTCCTGCTGGGCCTCGGACA	0.567000														50			21		0	0	0.00229938	0	0
IGSF10	285313	broad.mit.edu	37	3	151161357	151161357	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:151161357C>T	uc011bod.2	-	4	5378	c.5378G>A	c.(5377-5379)gGa>gAa	p.G1793E	IGSF10_uc011bob.2_5'Flank|IGSF10_uc011boc.2_5'Flank	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1793	Ig-like C2-type 4.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGCCTACTTCCCTGGGATGA	0.502000														41			16		0	0	0.000566183	0	0
LRP5	4041	broad.mit.edu	37	11	68181183	68181183	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:68181183G>A	uc001ont.3	+	11	2605	c.2530G>A	c.(2530-2532)Gat>Aat	p.D844N	LRP5_uc009ysg.3_Missense_Mutation_p.D254N	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	844	Beta-propeller 3.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GATTGCCGACGATCTCCCGCA	0.617000														38			25		0	0	0.000720815	0	0
CTNNA2	1496	broad.mit.edu	37	2	80835431	80835431	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:80835431C>T	uc010ysh.2	+	15	2423	c.2418C>T	c.(2416-2418)ctC>ctT	p.L806L	CTNNA2_uc010yse.2_Silent_p.L806L|CTNNA2_uc010ysf.2_Silent_p.L806L|CTNNA2_uc010ysg.2_Intron|CTNNA2_uc010ysi.2_Silent_p.L438L|CTNNA2_uc010ysj.2_Silent_p.L135L	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	806					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GAGGAGAGCTCATTGTGTCAG	0.458000														7			6		0	0	0.00116845	0	0
CDYL2	124359	broad.mit.edu	37	16	80718436	80718436	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:80718436G>A	uc002ffs.3	-	2	721	c.616_splice	c.e2+1	p.G206_splice		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	206						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GCTACAAACCGAGCCCGTTCT	0.527000														41			27		0	0	0.00178596	0	0
NOS1	4842	broad.mit.edu	37	12	117672437	117672437	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:117672437C>T	uc001twn.2	-	21	3981	c.3270G>A	c.(3268-3270)ctG>ctA	p.L1090L	NOS1_uc021ren.1_Silent_p.L720L|NOS1_uc021reo.1_Silent_p.L720L|NOS1_uc001twm.2_Silent_p.L1056L	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1056	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCGCGTCCTCCAGCCGCTCGA	0.622000														41			8		0	0	0.000274275	0	0
DICER1	23405	broad.mit.edu	37	14	95556998	95556999	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:95556998_95556999GG>AA	uc001ydw.2	-	28	5816	c.5604_splice	c.e28-1	p.S1868_splice	DICER1_uc010avh.1_Splice_Site_p.S766_splice|DICER1_uc021sbc.1_Splice_Site_p.A1814_splice|DICER1_uc001ydv.2_Splice_Site_p.S1858_splice|DICER1_uc001ydx.2_Splice_Site_p.S1868_splice	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1868	DRBM.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TCTCTCAGCCGGGCTGTAAAAA	0.426000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					67			59		0	0	6.4e-05	0	0
NOTUM	147111	broad.mit.edu	37	17	79913410	79913410	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:79913410G>A	uc010wvg.2	-	8	1271	c.999C>T	c.(997-999)ttC>ttT	p.F333F		NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	Homo sapiens notum pectinacetylesterase homolog (Drosophila) (NOTUM), mRNA.	333						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ACTGCACCACGAACACAGGGC	0.701000														26			7		0	0	0.000673444	0	0
OR6B1	135946	broad.mit.edu	37	7	143701556	143701556	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:143701556C>T	uc003wdt.1	+	0	467	c.467C>T	c.(466-468)tCc>tTc	p.S156F		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TTTGGCATCTCCCTGGCGAAG	0.532000														28			19		0	0	0.00121646	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49293287	49293287	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:49293287T>A	uc001zxe.2	-	14	2299	c.2035A>T	c.(2035-2037)Aat>Tat	p.N679Y	SECISBP2L_uc001zxd.2_Missense_Mutation_p.N634Y|SECISBP2L_uc010bep.2_Missense_Mutation_p.N441Y	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN	Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.	679										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						AGAACCTGATTACAATACCTG	0.333000														16			6		0	0	0.00198382	0	0
KIRREL2	84063	broad.mit.edu	37	19	36350386	36350386	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:36350386C>T	uc002ocb.4	+	4	738	c.526C>T	c.(526-528)Ctg>Ttg	p.L176L	KIRREL2_uc002obz.4_Silent_p.L176L|KIRREL2_uc002oca.4_Silent_p.L126L|KIRREL2_uc002ocd.4_Silent_p.L173L	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	176	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTCCAGACCCTGCTGAAGGA	0.537000														24			16		0	0	0.000566183	0	0
ZNF43	7594	broad.mit.edu	37	19	22002001	22002001	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:22002001A>G	uc002nqj.3	-	1	156	c.26T>C	c.(25-27)gTg>gCg	p.V9A	ZNF43_uc002nql.3_Missense_Mutation_p.V3A|ZNF43_uc002nqm.3_Missense_Mutation_p.V3A|ZNF43_uc010ecv.3_Missense_Mutation_p.V3A|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	9	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TTCTATGGCCACATCCATAAA	0.398000														57			23		0	0	0.00229938	0	0
PPP5C	5536	broad.mit.edu	37	19	46878977	46878977	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:46878977C>T	uc002pem.3	+	2	583	c.480C>T	c.(478-480)tcC>tcT	p.S160S	PPP5C_uc002pen.3_Silent_p.S160S|PPP5C_uc010xya.2_Silent_p.S27S	NM_006247	NP_006238	P53041	PPP5_HUMAN	Homo sapiens protein phosphatase 5, catalytic subunit (PPP5C), transcript variant 1, mRNA.	160					mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		ACAAGCGCTCCGTGGTGGACT	0.587000														5			8		0	0	0.000274275	0	0
USP30	84749	broad.mit.edu	37	12	109523491	109523491	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:109523491C>T	uc010sxi.2	+	12	1413	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W	USP30_uc001tnu.4_Missense_Mutation_p.R406W|USP30_uc001tnw.4_Missense_Mutation_p.R154W	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	Homo sapiens ubiquitin specific peptidase 30 (USP30), mRNA.	437					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						ATACCTCTTCCGGCTGATGGC	0.458000														53			45		0	0	0.00361006	0	0
NLRP12	91662	broad.mit.edu	37	19	54318225	54318225	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:54318225G>A	uc002qcj.4	-	1	527	c.307C>T	c.(307-309)Ccg>Tcg	p.P103S	NLRP12_uc002qch.4_Missense_Mutation_p.P103S|NLRP12_uc002qci.4_Missense_Mutation_p.P103S|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.P103S	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	103					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.P103P(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGTGAGGACGGGCCACCAGGT	0.493000														69			42		0	0	0.00361006	0	0
AMPD2	271	broad.mit.edu	37	1	110163638	110163638	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:110163638G>A	uc009wfh.1	+	1	545	c.3G>A	c.(1-3)atG>atA	p.M1I	AMPD2_uc009wfg.1_Intron|AMPD2_uc001dyb.1_Intron|AMPD2_uc001dyc.1_Missense_Mutation_p.M1I|AMPD2_uc010ovr.1_5'UTR	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	1					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		TAGACAACATGAGAAATCGTG	0.652000														23			8		0	0	0.000673444	0	0
GPR116	221395	broad.mit.edu	37	6	46827023	46827023	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:46827023G>A	uc003oyo.3	-	16	2906	c.2617C>T	c.(2617-2619)Cca>Tca	p.P873S	GPR116_uc011dwj.1_Missense_Mutation_p.P428S|GPR116_uc011dwk.1_Missense_Mutation_p.P302S|GPR116_uc003oyp.3_Missense_Mutation_p.P731S|GPR116_uc003oyq.3_Missense_Mutation_p.P873S|GPR116_uc010jzi.1_Missense_Mutation_p.P545S	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	873					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P873S(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TCAAAGTATGGGAAAACAAAC	0.463000														44			15		0	0	0.00400662	0	0
ATG7	10533	broad.mit.edu	37	3	11374466	11374466	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:11374466T>C	uc003bwc.3	+	8	905	c.788T>C	c.(787-789)gTt>gCt	p.V263A	ATG7_uc003bwd.3_Missense_Mutation_p.V263A|ATG7_uc011aum.2_Missense_Mutation_p.V224A	NM_006395	NP_006386	O95352	ATG7_HUMAN	Homo sapiens ATG7 autophagy related 7 homolog (S. cerevisiae) (ATG7), transcript variant 1, mRNA.	263					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						TTCCAGTCTGTTGAAGTTGTT	0.423000														8			7		0	0	0.00198382	0	0
TCP11	6954	broad.mit.edu	37	6	35086086	35086086	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:35086086G>A	uc003okd.2	-	9	1692	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F	TCP11_uc003ojz.1_Missense_Mutation_p.S429F|TCP11_uc003oka.2_Missense_Mutation_p.S429F|TCP11_uc003okb.2_Missense_Mutation_p.S428F|TCP11_uc011dsu.1_Missense_Mutation_p.S486F|TCP11_uc003okc.2_Missense_Mutation_p.S428F|TCP11_uc011dsv.1_Missense_Mutation_p.S453F|TCP11_uc011dsw.1_Missense_Mutation_p.S458F	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	Homo sapiens t-complex 11 homolog (mouse) (TCP11), transcript variant 1, mRNA.	491					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						CTGGGCTGGGGAAATGAGGGT	0.512000														132			31		0	0	0.00428921	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642974	1642974	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:1642974G>A	uc009ycy.1	-	1	332	c.245C>T	c.(244-246)tCc>tTc	p.S82F	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	177	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCCCCCTTGGAACCCCCACA	0.667000														53			21		0	0	0.000720815	0	0
TNXB	7148	broad.mit.edu	37	6	32065145	32065145	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:32065145C>T	uc003nzl.2	-	2	687	c.485G>A	c.(484-486)tGg>tAg	p.W162*		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	162	EGF-like 1; incomplete.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGCCCACCCCAGCCTGGCTC	0.617000														252			67		0	0	0.00361006	0	0
GABRG3	2567	broad.mit.edu	37	15	27572135	27572135	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:27572135C>T	uc001zbg.2	+	3	704	c.450C>T	c.(448-450)ctC>ctT	p.L150L	GABRG3_uc001zbf.3_Silent_p.L150L	NM_033223	NP_150092	Q99928	GBRG3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 3 (GABRG3), mRNA.	150					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CCAATCAGCTCCTCCGGATTT	0.453000														34			16		0	0	0.000566183	0	0
TBX10	347853	broad.mit.edu	37	11	67399824	67399824	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:67399824G>A	uc001omp.3	-	6	921	c.833C>T	c.(832-834)cCc>cTc	p.P278L	NUDT8_uc001omn.3_5'Flank|NUDT8_uc001omo.2_5'Flank	NM_005995	NP_005986	O75333	TBX10_HUMAN	Homo sapiens T-box 10 (TBX10), mRNA.	278					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						CAGCACACAGGGACTGAGGCT	0.622000														58			18		0	0	0.00152264	0	0
PZP	5858	broad.mit.edu	37	12	9305726	9305726	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:9305726G>A	uc001qvl.3	-	29	4017	c.3988C>T	c.(3988-3990)Ctt>Ttt	p.L1330F	PZP_uc009zgl.3_Missense_Mutation_p.L1116F	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CCTACCTGAAGATACACACAT	0.438000														35			39		0	0	0.00148497	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140857375	140857375	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140857375C>T	uc003lkv.2	+	0	1807	c.1692C>T	c.(1690-1692)gcC>gcT	p.A564A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Silent_p.A564A|PCDHGC5_uc003lkw.2_Intron	NM_002588	NP_002579	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA.	561	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGACAATGCCCCCCAGGTCC	0.572000											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		24			17		0	0	0.00121646	0	0
SLC5A9	200010	broad.mit.edu	37	1	48708153	48708153	+	Silent	SNP	C	A	A	rs138580488		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:48708153C>A	uc001crn.2	+	13	1829	c.1777C>A	c.(1777-1779)Cgg>Agg	p.R593R	SLC5A9_uc001cro.2_Silent_p.R568R|SLC5A9_uc010omt.1_Silent_p.R582R|SLC5A9_uc001crp.2_Silent_p.R235R|SLC5A9_uc010omu.1_Silent_p.R235R|SLC5A9_uc009vyt.1_Non-coding_Transcript	NM_001135181	NP_001128653	Q2M3M2	SC5A9_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 9 (SLC5A9), transcript variant 1, mRNA.	568						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	p.R586W(1)		breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						ATGGTGGACTCGGAACTGCCC	0.597000														67			38		9.8876e-21	2.26565e-20	0.000953801	1	0
FBXO34	55030	broad.mit.edu	37	14	55818526	55818526	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:55818526C>T	uc021rtk.1	+	0	1418	c.1418C>T	c.(1417-1419)tCc>tTc	p.S473F	FBXO34_uc001xbv.3_Non-coding_Transcript|FBXO34_uc001xbu.3_Missense_Mutation_p.S473F|FBXO34_uc010aoo.3_Missense_Mutation_p.S473F	NM_152231	NP_689417	Q9NWN3	FBX34_HUMAN	Homo sapiens F-box protein 34 (FBXO34), transcript variant 2, mRNA.	473										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						ATTTTAAACTCCTGTGAAGAC	0.423000														56			43		0	0	0.00285205	0	0
ACVR1C	130399	broad.mit.edu	37	2	158443818	158443818	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:158443818G>A	uc002tzk.4	-	1	428	c.185C>T	c.(184-186)tCc>tTc	p.S62F	ACVR1C_uc002tzl.4_Missense_Mutation_p.S62F|ACVR1C_uc010fof.3_Missense_Mutation_p.S62F|ACVR1C_uc010foe.3_Missense_Mutation_p.S12F	NM_145259	NP_001104501	Q8NER5	ACV1C_HUMAN	Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA.	62					apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	ATP binding|activin receptor activity, type I|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						GGAGACACAGGATTTGATCAC	0.418000														68			50		0	0	0.00361006	0	0
OR52K1	390036	broad.mit.edu	37	11	4510953	4510953	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:4510953C>T	uc001lza.2	+	0	845	c.823C>T	c.(823-825)Cac>Tac	p.H275Y		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA.	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCCTCGTGTCCACATACTCCT	0.493000														56			48		0	0	0.00361006	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558594	129558594	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:129558594C>T	uc009zyl.1	-	8	3454	c.3126G>A	c.(3124-3126)agG>agA	p.R1042R	TMEM132D_uc001uia.2_Silent_p.R580R	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	1042						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	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)		TTACCCTTTTCCTTTTTGAGG	0.483000														79			15		0	0	0.00074312	0	0
FAM70B	348013	broad.mit.edu	37	13	114503840	114503840	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:114503840T>G	uc001vuh.3	+	5	491	c.464T>G	c.(463-465)gTg>gGg	p.V155G		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA.	155						integral to membrane				upper_aerodigestive_tract(1)	1	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			CAGCTGAAGGTGAGAAGCAAC	0.647000														8			9		0	0	0.00136819	0	0
USP24	23358	broad.mit.edu	37	1	55563389	55563389	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:55563389C>T	uc021onw.1	-	48	5849	c.5596_splice	c.e48-1	p.R1866_splice	USP24_uc001cyg.4_Splice_Site_p.R1700_splice	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	Homo sapiens ubiquitin specific peptidase 24 (USP24), mRNA.	1866					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CACTGTTATTCTCTAAAGAAA	0.363000														8			5		0	0	0.000602214	0	0
NUP210	23225	broad.mit.edu	37	3	13421065	13421065	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:13421065C>T	uc003bxv.1	-	6	1057	c.974G>A	c.(973-975)aGg>aAg	p.R325K	NUP210_uc003bxx.3_5'Flank	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	325					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					AAGGATATTCCTGTGGCCAAG	0.562000														91			30		0	0	0.00375469	0	0
BCL9	607	broad.mit.edu	37	1	147091084	147091084	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:147091084C>T	uc001epq.3	+	7	1863	c.1123C>T	c.(1123-1125)Cct>Tct	p.P375S	BCL9_uc010ozr.1_Missense_Mutation_p.P301S	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	375	CTNNB1-binding.|Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding	p.P375S(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CATGCTTTTTCCTGATGAGAA	0.537000			T	"""IGH@, IGL@"""	B-ALL									105			44		0	0	0.00361006	0	0
OR4N2	390429	broad.mit.edu	37	14	20295822	20295822	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:20295822C>T	uc010tkv.2	+	0	215	c.215C>T	c.(214-216)tCc>tTc	p.S72F		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A71A(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGGATGCATCCTACTCCTTC	0.493000														54			8		0	0	0.00316338	0	0
STMN4	81551	broad.mit.edu	37	8	27097515	27097515	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:27097515G>A	uc011lak.2	-	5	678	c.564C>T	c.(562-564)gcC>gcT	p.A188A	STMN4_uc003xfj.3_Silent_p.A188A|STMN4_uc011lai.2_Silent_p.A188A|STMN4_uc011laj.2_Silent_p.A152A|STMN4_uc003xfk.3_Silent_p.A161A|STMN4_uc010luo.3_Silent_p.A161A	NM_030795	NP_110422	Q9H169	STMN4_HUMAN	Homo sapiens stathmin-like 4 (STMN4), mRNA.	161					intracellular signal transduction					endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		CCAACATGGCGGCGAGGTGGG	0.527000														52			19		0	0	0.00188189	0	0
WNT7A	7476	broad.mit.edu	37	3	13896123	13896123	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:13896123C>T	uc003bye.1	-	2	781	c.476G>A	c.(475-477)gGc>gAc	p.G159D		NM_004625	NP_004616	O00755	WNT7A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7A (WNT7A), mRNA.	159					Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of JNK cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						GAAGCCGATGCCGTAGCGGAT	0.602000														99			49		0	0	0.00361006	0	0
MED12L	116931	broad.mit.edu	37	3	151105867	151105867	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:151105867C>T	uc003eyp.3	+	34	5382	c.5253C>T	c.(5251-5253)tcC>tcT	p.S1751S	MED12L_uc011bnz.2_Silent_p.S1611S|MED12L_uc003eyy.1_Silent_p.S914S	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1751					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAAGGAAGTCCGCTGAGCTGT	0.502000														16			15		0	0	0.00316338	0	0
KIAA0753	9851	broad.mit.edu	37	17	6493149	6493149	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:6493149G>A	uc002gde.4	-	17	3095	c.2736C>T	c.(2734-2736)atC>atT	p.I912I	KIAA0753_uc010vtd.2_Silent_p.I368I|KIAA0753_uc010clo.3_Silent_p.I613I|KIAA0753_uc010vte.2_Silent_p.I613I	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	Homo sapiens KIAA0753 (KIAA0753), mRNA.	912						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		CATGAGATATGATCCGAAGGT	0.473000														15			19		0	0	0.00152264	0	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45567771	45567771	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:45567771G>A	uc001rom.2	-	2	915	c.378C>T	c.(376-378)tcC>tcT	p.S126S						Homo sapiens pleckstrin homology domain containing, family A member 8 pseudogene 1 (PLEKHA8P1), non-coding RNA.											breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TCAAATATAAGGAATTCTTAT	0.328000														53			9		0	0	0.000673444	0	0
ENAM	10117	broad.mit.edu	37	4	71507864	71507864	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:71507864G>A	uc011caw.1	+	8	1002	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	241					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TCCAGGCACAGAACCCACAGC	0.448000														42			62		0	0	0.00361006	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98416563	98416563	+	Missense_Mutation	SNP	G	A	A	rs148582013		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:98416563G>A	uc001kmq.3	-	2	687	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	PIK3AP1_uc001kmp.3_Missense_Mutation_p.R9C	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	187	DBB.					cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		ACCCCACAGCGAATGCGGTCC	0.547000														53			30		0	0	0.00283554	0	0
AHRR	57491	broad.mit.edu	37	5	423970	423970	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:423970C>T	uc003jav.3	+	6	641	c.598C>T	c.(598-600)Ctg>Ttg	p.L200L	AHRR_uc003jaw.3_Silent_p.L200L|AHRR_uc010isy.3_Silent_p.L46L|AHRR_uc010isz.3_Silent_p.L196L|AHRR_uc003jax.3_5'UTR|AHRR_uc003jay.3_Silent_p.L56L	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA.	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TGATGCTATCCTGGGGAGGCT	0.652000														29			8		0	0	0.00307968	0	0
ZNF676	163223	broad.mit.edu	37	19	22362851	22362851	+	Silent	SNP	A	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:22362851A>T	uc002nqs.1	-	2	1986	c.1668T>A	c.(1666-1668)acT>acA	p.T556T		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	556					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GTTTCTCTCCAGTATGAATTC	0.373000														34			8		0	0	0.000442599	0	0
MDN1	23195	broad.mit.edu	37	6	90402561	90402561	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:90402561G>A	uc003pnn.1	-	62	10304	c.10188C>T	c.(10186-10188)gcC>gcT	p.A3396A		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	3396					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.A3396A(2)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTGGGCTCACGGCATCTGGAT	0.562000														51			13		0	0	0.00244969	0	0
ESRP2	80004	broad.mit.edu	37	16	68265548	68265548	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:68265548G>A	uc010cfa.1	-	10	1567	c.1379C>T	c.(1378-1380)cCa>cTa	p.P460L	ESRP2_uc002evp.1_Non-coding_Transcript|ESRP2_uc002evq.1_Missense_Mutation_p.P450L	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	Homo sapiens epithelial splicing regulatory protein 2 (ESRP2), mRNA.	460					RNA splicing|mRNA processing|regulation of RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						GGGCAGCAGTGGGGCAGTCAG	0.612000														23			6		0	0	0.000274275	0	0
OR4K2	390431	broad.mit.edu	37	14	20345254	20345254	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:20345254C>T	uc001vwh.1	+	0	828	c.828C>T	c.(826-828)acC>acT	p.T276T		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTTTTATACCATCTTTACTC	0.358000														27			15		0	0	0.000566183	0	0
RP1L1	94137	broad.mit.edu	37	8	10466652	10466652	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:10466652C>T	uc003wtc.3	-	3	5185	c.4956G>A	c.(4954-4956)gaG>gaA	p.E1652E		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1652					intracellular signal transduction			p.E1652K(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACTCCTCCCCCTCCGCCTCCT	0.667000														13			10		0	0	0.00185496	0	0
PTH2R	5746	broad.mit.edu	37	2	209358047	209358047	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:209358047G>A	uc010zjb.2	+	12	1635	c.1349G>A	c.(1348-1350)aGg>aAg	p.R450K	PTH2R_uc002vdb.3_Missense_Mutation_p.R439K|PTH2R_uc010fuo.1_Intron	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	439						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GACTGGAAAAGGACACCGCCA	0.587000														29			14		0	0	0.00244969	0	0
GPATCH8	23131	broad.mit.edu	37	17	42476474	42476475	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:42476474_42476475CC>TT	uc002igw.2	-	7	3189_3190	c.2970_2971GG>AA	c.(2968-2973)cgggac>cgAAac	p.D991N	GPATCH8_uc002igv.2_Missense_Mutation_p.D913N|GPATCH8_uc010wiz.2_Missense_Mutation_p.D913N	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	991	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CGGCTGCGGTCCCGGCTATAGC	0.649000														9			15		0	0	6.4e-05	0	0
APOBEC1	339	broad.mit.edu	37	12	7805421	7805421	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:7805421C>T	uc001qtb.3	-	2	89	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	APOBEC1_uc001qtc.3_5'UTR	NM_001644	NP_001635	P41238	ABEC1_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1), mRNA.	19					DNA demethylation|cytidine to uridine editing|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	RNA binding|cytidine deaminase activity|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TCCCAGGGTTCGATTCTTCTC	0.453000														46			33		0	0	0.000953801	0	0
MYH11	4629	broad.mit.edu	37	16	15818255	15818255	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:15818255C>T	uc002ddx.3	-	31	4256	c.4149G>A	c.(4147-4149)tcG>tcA	p.S1383S	MYH11_uc002ddv.3_Silent_p.S1383S|MYH11_uc002ddw.3_Silent_p.S1376S|MYH11_uc002ddy.3_Silent_p.S1376S|MYH11_uc010bvg.3_Silent_p.S1208S|NDE1_uc010uzy.2_3'UTR|NDE1_uc002dds.3_3'UTR|MYH11_uc010bvh.3_Silent_p.S82S|NDE1_uc002ddz.1_Non-coding_Transcript	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1376					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCTTCTTCTTCGAGTCGGAGA	0.587000			T	CBFB	AML									54			19		0	0	0.00278032	0	0
TG	7038	broad.mit.edu	37	8	133885424	133885424	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:133885424C>T	uc003ytw.3	+	4	637	c.596C>T	c.(595-597)aCc>aTc	p.T199I		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	199	Thyroglobulin type-1 3.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTTGTCAACACCACAGACATG	0.527000														30			5		0	0	0.000602214	0	0
NLRP11	204801	broad.mit.edu	37	19	56297047	56297047	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:56297047G>A	uc010ygf.2	-	11	3757	c.3046C>T	c.(3046-3048)Ccc>Tcc	p.P1016S	NLRP11_uc002qlz.3_Missense_Mutation_p.P863S|NLRP11_uc002qmb.3_Missense_Mutation_p.P917S|NLRP11_uc002qmc.3_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	1016							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GACATTCTGGGAAATTTGAAA	0.373000														67			17		0	0	0.00400662	0	0
NEFM	4741	broad.mit.edu	37	8	24776021	24776021	+	Missense_Mutation	SNP	G	A	A	rs150229714		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:24776021G>A	uc003xed.4	+	2	2686	c.2653G>A	c.(2653-2655)Gag>Aag	p.E885K	NEFM_uc011lac.1_Missense_Mutation_p.E667K|NEFM_uc010lue.3_Missense_Mutation_p.E509K	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	885	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AAAGGTTGAAGAGCATGAAGA	0.428000														88			35		0	0	0.00327116	0	0
SYNE1	23345	broad.mit.edu	37	6	152647549	152647549	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:152647549G>C	uc021zhb.1	-	76	15398	c.15175C>G	c.(15175-15177)Ctg>Gtg	p.L5059V	SYNE1_uc003qot.4_Missense_Mutation_p.L4988V|SYNE1_uc003qou.4_Missense_Mutation_p.L5059V|SYNE1_uc010kiz.3_Missense_Mutation_p.L814V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5059					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGTGGGTCCAGGGTGGCTACC	0.532000										HNSCC(10;0.0054)				86			4		0	0	0.00024832	0	0
RFX6	222546	broad.mit.edu	37	6	117246643	117246643	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:117246643C>T	uc003pxm.3	+	15	1769	c.1706C>T	c.(1705-1707)tCt>tTt	p.S569F		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	569					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTCACTGCTTCTCCGAGTTCA	0.433000														84			25		0	0	0.001512	0	0
DNAH8	1769	broad.mit.edu	37	6	38816444	38816444	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:38816444A>T	uc021yzh.1	+	36	5175	c.5066A>T	c.(5065-5067)aAa>aTa	p.K1689I	DNAH8_uc003ooe.2_Missense_Mutation_p.K1472I	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCATTTAAAAAAAATATCCAG	0.343000														17			4		0	0	0.000602214	0	0
OR4C16	219428	broad.mit.edu	37	11	55340494	55340494	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:55340494G>A	uc010rih.2	+	0	891	c.891G>A	c.(889-891)agG>agA	p.R297R		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GTGCCATGAGGAAGCTTTGGA	0.358000														12			11		0	0	0.00136819	0	0
PER2	8864	broad.mit.edu	37	2	239161848	239161848	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:239161848G>A	uc002vyc.3	-	18	3053	c.2816C>T	c.(2815-2817)tCc>tTc	p.S939F	PER2_uc010znv.1_Missense_Mutation_p.S939F	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	939	Pro-rich.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GGCCATCTCGGATGTGAGTGT	0.642000														60			19		0	0	0.000958276	0	0
PYHIN1	149628	broad.mit.edu	37	1	158912086	158912086	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:158912086T>C	uc001ftb.3	+	4	1149	c.899T>C	c.(898-900)gTt>gCt	p.V300A	PYHIN1_uc001ftc.3_Missense_Mutation_p.V291A|PYHIN1_uc001ftd.3_Missense_Mutation_p.V300A|PYHIN1_uc001fte.3_Missense_Mutation_p.V291A	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	300	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					ACGTTTGAGGTTCCAAAGGAC	0.348000														37			12		0	0	0.00136819	0	0
CLSTN2	64084	broad.mit.edu	37	3	140178488	140178488	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:140178488C>A	uc003etn.3	+	6	1289	c.1099C>A	c.(1099-1101)Ccc>Acc	p.P367T	CLSTN2_uc003etm.2_Missense_Mutation_p.P367T	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	367					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TGCCAAAGTCCCCGATGGGAT	0.572000										HNSCC(16;0.037)				33			18		1.33834e-09	3.03916e-09	0.000958276	1	0
PARP4	143	broad.mit.edu	37	13	25026555	25026555	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:25026555G>A	uc001upl.3	-	23	3109	c.3003C>T	c.(3001-3003)gcC>gcT	p.A1001A	PARP4_uc010tdc.2_Silent_p.A1001A	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	1001	VWFA.				DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CGATACCGCAGGCGAATAACC	0.587000														78			53		0	0	0.00361006	0	0
CYP3A4	1576	broad.mit.edu	37	7	99359815	99359815	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:99359815G>A	uc003urv.2	-	10	1209	c.1102C>T	c.(1102-1104)Cca>Tca	p.P368S	CYP3A4_uc003urw.2_Missense_Mutation_p.P367S|CYP3A4_uc011kiz.2_Missense_Mutation_p.P327S	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	368					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	ATAGCAATTGGGAATAATCTG	0.443000														45			16		0	0	0.00400662	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756535	94756535	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:94756535G>A	uc001yct.3	-	1	862	c.396C>T	c.(394-396)gcC>gcT	p.A132A	SERPINA10_uc001ycu.4_Silent_p.A132A	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	132					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TGGGCTTCAGGGCCTGCAAGT	0.597000														39			33		0	0	0.00375469	0	0
LRTM1	57408	broad.mit.edu	37	3	54952852	54952852	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:54952852G>A	uc003dhl.3	-	2	806	c.672C>T	c.(670-672)atC>atT	p.I224I	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	224	LRRCT.					integral to membrane		p.I224I(2)		breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GCTCATGAGGGATCCTAAGGA	0.542000														19			13		0	0	0.00400662	0	0
THSD7A	221981	broad.mit.edu	37	7	11485934	11485934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:11485934C>T	uc021zzo.1	-	12	3070	c.2818G>A	c.(2818-2820)Gaa>Aaa	p.E940K	THSD7A_uc021zzn.1_Missense_Mutation_p.E940K	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	940	TSP type-1 9.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTACATTTTTCCTTCTTTTTA	0.353000										HNSCC(18;0.044)				28			9		0	0	0.000673444	0	0
CSMD3	114788	broad.mit.edu	37	8	113323360	113323360	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:113323360C>T	uc003ynu.3	-	49	7891	c.7732G>A	c.(7732-7734)Gga>Aga	p.G2578R	CSMD3_uc003yns.3_Missense_Mutation_p.G1780R|CSMD3_uc003ynt.3_Missense_Mutation_p.G2538R|CSMD3_uc011lhx.2_Missense_Mutation_p.G2474R|CSMD3_uc003ynw.1_Missense_Mutation_p.G289R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2578	Sushi 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAATATATCCATGAGGTGGG	0.408000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				37			12		0	0	0.00185496	0	0
C12orf63	374467	broad.mit.edu	37	12	97078890	97078890	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:97078890C>T	uc021rcc.1	+	8	1241	c.1163C>T	c.(1162-1164)cCc>cTc	p.P388L				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	388										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GAATTTGGCCCCTCACTCACC	0.463000														37			4		0	0	0.00024832	0	0
UBN1	29855	broad.mit.edu	37	16	4927076	4927076	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:4927076C>T	uc002cyb.3	+	15	3568	c.3229C>T	c.(3229-3231)Cct>Tct	p.P1077S	UBN1_uc010uxw.2_Missense_Mutation_p.P1077S|UBN1_uc002cyc.3_Missense_Mutation_p.P1077S	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	1077					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CGTCACAGGCCCTGCCCCCGG	0.582000														122			86		0	0	0.00361006	0	0
OR4K15	81127	broad.mit.edu	37	14	20444677	20444677	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:20444677C>T	uc010tkx.2	+	0	1000	c.1000C>T	c.(1000-1002)Cag>Tag	p.Q334*		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 15 (OR4K15), mRNA.	334					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAAGCCTAGTCAGGTTTCTGT	0.383000														6			5		0	0	0.00116845	0	0
XIRP2	129446	broad.mit.edu	37	2	168097217	168097217	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:168097217C>T	uc002udx.3	+	6	1102	c.1013C>T	c.(1012-1014)tCt>tTt	p.S338F	XIRP2_uc010fpn.3_Missense_Mutation_p.S371F|XIRP2_uc010fpo.3_Missense_Mutation_p.S338F|XIRP2_uc002udy.3_Missense_Mutation_p.S163F|XIRP2_uc010fpq.3_Missense_Mutation_p.S116F|XIRP2_uc010fpr.3_Missense_Mutation_p.S116F	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	163					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AACCAAGCATCTCAGTTTCAT	0.318000														51			35		0	0	0.00170553	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147926772	147926772	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:147926772C>T	uc003weu.2	+	19	3798	c.3282C>T	c.(3280-3282)acC>acT	p.T1094T		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1094	Laminin G-like 4.				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			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	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)			TGGGTGGCACCCGAGAGCCAT	0.453000										HNSCC(39;0.1)				27			17		0	0	0.000566183	0	0
ARMC5	79798	broad.mit.edu	37	16	31471177	31471177	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:31471177C>T	uc010vfn.2	+	2	741	c.617C>T	c.(616-618)cCc>cTc	p.P206L	ARMC5_uc010vfo.2_Missense_Mutation_p.P143L|ARMC5_uc002ecc.3_Missense_Mutation_p.P111L|ARMC5_uc002eca.4_Missense_Mutation_p.P111L|ARMC5_uc002ecb.2_Missense_Mutation_p.P111L|ARMC5_uc010vfp.2_Missense_Mutation_p.P111L	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.	111							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ggccccgcccccTCCGCTGTG	0.741000														7			3		0	0	6.4e-05	0	0
CASR	846	broad.mit.edu	37	3	122002631	122002631	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:122002631G>A	uc003eew.4	+	6	2298	c.1860G>A	c.(1858-1860)gaG>gaA	p.E620E	CASR_uc003eev.4_Silent_p.E610E	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	610					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CGTGGACGGAGCCCTTTGGGA	0.532000														47			21		0	0	0.00152264	0	0
abParts	0	broad.mit.edu	37	14	107095318	107095318	+	RNA	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:107095318G>A	uc021ser.1	-	113		c.5096C>T								Parts of antibodies, mostly variable regions.																		TCCAGCTCCAGTAGTAACCAC	0.597000														23			24		0	0	0.00395357	0	0
RNF10	9921	broad.mit.edu	37	12	121000839	121000839	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:121000839C>T	uc001typ.4	+	7	1703	c.1220C>T	c.(1219-1221)cCc>cTc	p.P407L	RNF10_uc010szk.2_Non-coding_Transcript|RNF10_uc001tyq.4_Missense_Mutation_p.P313L	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	Homo sapiens ring finger protein 10 (RNF10), mRNA.	407					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGATGGCTCCCTTGGCGAAG	0.537000														36			26		0	0	0.00395357	0	0
LILRB4	11006	broad.mit.edu	37	19	55175267	55175267	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:55175267G>A	uc002qgp.3	+	2	488	c.126G>A	c.(124-126)ggG>ggA	p.G42G	LILRB4_uc002qgo.1_Silent_p.G83G|LILRB4_uc002qgq.3_Silent_p.G42G|LILRB4_uc010ers.1_5'UTR|LILRB4_uc010ert.3_Silent_p.G83G|LILRB4_uc010eru.3_Silent_p.G71G	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	42	Ig-like C2-type 1.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		TCAGCTGGGGGAACTCTGTGA	0.607000														29			30		0	0	0.00209593	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150526356	150526356	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:150526356A>T	uc009wlw.3	+	4	1047	c.889A>T	c.(889-891)Aga>Tga	p.R297*	ADAMTSL4_uc001euw.3_Nonsense_Mutation_p.R297*|ADAMTSL4_uc001eux.3_Nonsense_Mutation_p.R297*|ADAMTSL4_uc010pcg.2_Nonsense_Mutation_p.R297*	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	297					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GGTAGCAGGGAGACGCCCTGA	0.677000														11			7		0	0	0.00307968	0	0
MYO5C	55930	broad.mit.edu	37	15	52539151	52539151	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:52539151G>A	uc010bff.3	-	15	2104	c.1942C>T	c.(1942-1944)Cga>Tga	p.R648*	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	648	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.V647I(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TTGATGCATCGAACGTAGTGG	0.468000														77			33		0	0	0.00170553	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77356242	77356242	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:77356242C>T	uc002ffc.4	-	13	2573	c.2154G>A	c.(2152-2154)ggG>ggA	p.G718G	ADAMTS18_uc010chc.1_Silent_p.G306G|ADAMTS18_uc002ffe.1_Silent_p.G414G	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	718	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTTCACAAACCCCGTCAATAC	0.418000														56			22		0	0	0.00278032	0	0
FAM135B	51059	broad.mit.edu	37	8	139145022	139145022	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:139145022C>T	uc003yuy.3	-	19	4206	c.4035G>A	c.(4033-4035)atG>atA	p.M1345I	FAM135B_uc003yux.3_Missense_Mutation_p.M1246I|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1345										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGTTGTTGATCATTTCTGCAT	0.502000										HNSCC(54;0.14)				136			60		0	0	0.00361006	0	0
TRIOBP	11078	broad.mit.edu	37	22	38153678	38153678	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:38153678C>T	uc003atr.3	+	15	6017	c.5746C>T	c.(5746-5748)Ctg>Ttg	p.L1916L	TRIOBP_uc003atu.3_Silent_p.L1744L|TRIOBP_uc003atv.3_Silent_p.L203L|TRIOBP_uc003atw.3_Silent_p.L203L|TRIOBP_uc003atx.1_5'UTR|TRIOBP_uc010gxh.3_5'UTR	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1916					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAAGGGCCCCCTGAAGGCAGG	0.672000														1			5		0	0	0.00116845	0	0
PARP9	83666	broad.mit.edu	37	3	122247434	122247434	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:122247434G>T	uc010hri.3	-	10	2487	c.2342C>A	c.(2341-2343)cCc>cAc	p.P781H	PARP9_uc003eff.4_Missense_Mutation_p.P746H|PARP9_uc011bjs.2_Missense_Mutation_p.P746H|PARP9_uc003efg.3_Missense_Mutation_p.P326H|PARP9_uc003efi.3_Missense_Mutation_p.P746H|PARP9_uc003efh.3_Missense_Mutation_p.P781H	NM_001146102	NP_113646	Q8IXQ6	PARP9_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA.	781	PARP catalytic.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CAGTGGTGGGGGAACAATATT	0.458000														67			30		2.09667e-21	4.80866e-21	0.00375469	1	0
SSX2IP	117178	broad.mit.edu	37	1	85128012	85128012	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:85128012G>A	uc001dki.3	-	8	1122	c.796C>T	c.(796-798)Cgt>Tgt	p.R266C	SSX2IP_uc001dkf.3_Missense_Mutation_p.R239C|SSX2IP_uc001dkh.3_Missense_Mutation_p.R266C|SSX2IP_uc010orz.2_Missense_Mutation_p.R239C|SSX2IP_uc001dkg.3_Non-coding_Transcript|SSX2IP_uc010osa.2_Missense_Mutation_p.R239C|SSX2IP_uc001dkj.3_Missense_Mutation_p.R266C|SSX2IP_uc009wci.3_Intron|SSX2IP_uc001dkk.1_Missense_Mutation_p.R262C	NM_014021	NP_001159767	Q9Y2D8	ADIP_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 2 interacting protein (SSX2IP), transcript variant 5, mRNA.	266					cell adhesion	nucleus|protein complex				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TGTTTCTGACGATATTCATAA	0.323000														51			32		0	0	0.001512	0	0
PABPC4	8761	broad.mit.edu	37	1	40036968	40036968	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:40036968G>A	uc001cdl.2	-	2	1339	c.441C>T	c.(439-441)acC>acT	p.T147T	PABPC4_uc010oiv.1_Silent_p.T147T|PABPC4_uc001cdm.2_Silent_p.T147T	NM_001135653	NP_001129125	Q13310	PABP4_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA.	147	RRM 2.				RNA catabolic process|RNA processing|blood coagulation|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CAGCCTCTTGGGTCTCGAAGT	0.542000														118			69		0	0	0.00361006	0	0
CTCFL	140690	broad.mit.edu	37	20	56094315	56094315	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:56094315C>T	uc010giw.1	-	3	984	c.873G>A	c.(871-873)ctG>ctA	p.L291L	CTCFL_uc010gix.1_Silent_p.L291L|CTCFL_uc002xym.2_Silent_p.L291L|CTCFL_uc010gjb.1_Silent_p.L291L|CTCFL_uc010gja.1_Silent_p.L291L|CTCFL_uc010gjc.1_Silent_p.L291L|CTCFL_uc010gjd.1_Silent_p.L291L|CTCFL_uc010gje.3_Silent_p.L291L|CTCFL_uc010gjg.3_Silent_p.L23L|CTCFL_uc010gjf.3_Silent_p.L86L|CTCFL_uc010gjh.2_Silent_p.L291L|CTCFL_uc010gji.2_Silent_p.L86L|CTCFL_uc010gjj.2_Silent_p.L291L|CTCFL_uc021wfe.1_Silent_p.L291L|CTCFL_uc021wff.1_Non-coding_Transcript|CTCFL_uc021wfg.1_Silent_p.L23L|CTCFL_uc010gjk.1_Silent_p.L291L|CTCFL_uc010gjl.1_Silent_p.L291L	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	291					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GGAAGGTTTTCAGGCAGAGGT	0.473000														66			33		0	0	0.00428921	0	0
ADCY7	113	broad.mit.edu	37	16	50347965	50347965	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:50347965G>A	uc002egd.1	+	21	3116	c.2848G>A	c.(2848-2850)Gag>Aag	p.E950K		NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	950	Guanylate cyclase 2.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding	p.H949H(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CTCAGGGCACGAGAACCAGGT	0.552000														26			12		0	0	0.00136819	0	0
LEPR	3953	broad.mit.edu	37	1	66102375	66102375	+	Missense_Mutation	SNP	G	A	A	rs56117117		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:66102375G>A	uc001dci.3	+	19	3564	c.3175G>A	c.(3175-3177)Gaa>Aaa	p.E1059K	LEPR_uc009waq.3_3'UTR	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	1059					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AGGATTGGATGAACTTTTGAA	0.368000														68			39		0	0	0.00285205	0	0
KANK4	163782	broad.mit.edu	37	1	62740018	62740018	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:62740018G>A	uc001dah.4	-	2	1135	c.758C>T	c.(757-759)tCa>tTa	p.S253L	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	253	Pro-rich.							p.S253S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						ATTCTGGAATGAGAAAGGAGG	0.557000														34			14		0	0	0.00244969	0	0
CACNA1E	777	broad.mit.edu	37	1	181689432	181689432	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:181689432C>T	uc009wxt.3	+	13	2037	c.1842C>T	c.(1840-1842)atC>atT	p.I614I	CACNA1E_uc001gow.3_Silent_p.I614I|CACNA1E_uc009wxs.3_Silent_p.I614I	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	614					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCCTCTTCATCGTTGTCTTTG	0.468000														44			7		0	0	0.00198382	0	0
MCM3AP	8888	broad.mit.edu	37	21	47695184	47695184	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:47695184C>T	uc002zir.1	-	5	1950	c.1914G>A	c.(1912-1914)ctG>ctA	p.L638L		NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	638					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GACACATATCCAGGCAGGTGC	0.527000														24			10		0	0	0.000442599	0	0
HEPH	9843	broad.mit.edu	37	X	65480098	65480098	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:65480098C>T	uc011moz.2	+	18	3492	c.3355C>T	c.(3355-3357)Cga>Tga	p.R1119*	HEPH_uc004dwn.3_Nonsense_Mutation_p.R1068*|HEPH_uc004dwo.3_Nonsense_Mutation_p.R798*|HEPH_uc010nkr.3_Nonsense_Mutation_p.R876*|HEPH_uc011mpa.2_Nonsense_Mutation_p.R1068*	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	1065					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TGTTTTTTCTCGAACAGGTAA	0.468000														2			3		0	0	0.00024832	0	0
DMRTB1	63948	broad.mit.edu	37	1	53927235	53927235	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:53927235G>A	uc001cvq.1	+	1	722	c.667G>A	c.(667-669)Ggc>Agc	p.G223S		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA.	223	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						GTTCCCGCTGGGCTACCTGGA	0.667000														41			24		0	0	0.00278032	0	0
SEC31B	25956	broad.mit.edu	37	10	102250017	102250017	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:102250017G>A	uc001krc.1	-	20	2815	c.2713C>T	c.(2713-2715)Cct>Tct	p.P905S	SEC31B_uc010qpo.1_Missense_Mutation_p.P904S|SEC31B_uc001krd.1_Missense_Mutation_p.P442S|SEC31B_uc001krf.1_Intron|SEC31B_uc001kre.1_Intron	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	905	Pro-rich.				protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CATGTCCCAGGGAATCCCACC	0.542000														25			5		0	0	0.000602214	0	0
BCL11A	53335	broad.mit.edu	37	2	60688871	60688871	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:60688871C>T	uc002sae.1	-	3	1404	c.1176G>A	c.(1174-1176)ctG>ctA	p.L392L	BCL11A_uc002sab.3_Silent_p.L392L|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Silent_p.L61L|BCL11A_uc010ypj.2_Silent_p.L358L|BCL11A_uc002sad.1_Silent_p.L240L|BCL11A_uc002saf.1_Silent_p.L358L	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	392					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGTGCACCACCAGGTTGCTCT	0.627000			T	IGH@	B-CLL									192			148		0	0	0.00361006	0	0
SRCAP	10847	broad.mit.edu	37	16	30733927	30733927	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:30733927C>T	uc002dze.1	+	22	4135	c.3750C>T	c.(3748-3750)ctC>ctT	p.L1250L	SRCAP_uc002dzf.3_Intron|SRCAP_uc002dzg.1_Intron	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1250	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGCACCATCTCATCAGCCAGC	0.632000														76			52		0	0	0.00361006	0	0
PEG3	5178	broad.mit.edu	37	19	57327492	57327492	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:57327492G>A	uc002qnu.2	-	6	2669	c.2318C>T	c.(2317-2319)tCa>tTa	p.S773L	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.S744L|PEG3_uc002qnv.2_Missense_Mutation_p.S773L|PEG3_uc002qnw.2_Missense_Mutation_p.S649L|PEG3_uc002qnx.2_Missense_Mutation_p.S647L|PEG3_uc010etr.2_Missense_Mutation_p.S773L	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	773					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCTCTCATATGATTTTGCCTC	0.438000														91			55		0	0	0.00361006	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140780130	140780130	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140780130C>T	uc011daw.2	+	0	2436	c.2436C>T	c.(2434-2436)acC>acT	p.T812T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_5'Flank|PCDHGC5_uc003lkh.2_5'Flank	NM_032099	NP_115270	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 2, mRNA.	176					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTACCCACCCAATTTTCTG	0.393000														39			8		0	0	0.000274275	0	0
C8B	732	broad.mit.edu	37	1	57422471	57422471	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:57422471C>T	uc001cyp.3	-	2	429	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	C8B_uc010oon.2_Missense_Mutation_p.R59Q|C8B_uc010ooo.2_Missense_Mutation_p.R69Q	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	121	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GCCTTCACATCGCACTTGACT	0.483000														193			103		0	0	0.00361006	0	0
ARSF	416	broad.mit.edu	37	X	3030424	3030424	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:3030424G>A	uc022brz.1	+	10	1736	c.1600G>A	c.(1600-1602)Gtg>Atg	p.V534M	ARSF_uc004cre.2_Missense_Mutation_p.V534M|ARSF_uc004crf.2_Missense_Mutation_p.V534M	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	534						extracellular region	arylsulfatase activity|metal ion binding	p.K533K(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GATTAAAAAGGTGGCCAACGC	0.567000														16			24		0	0	0.00332997	0	0
DLL1	28514	broad.mit.edu	37	6	170592532	170592532	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:170592532A>G	uc003qxm.3	-	8	2305	c.1835T>C	c.(1834-1836)aTc>aCc	p.I612T		NM_005618	NP_005609	O00548	DLL1_HUMAN	Homo sapiens delta-like 1 (Drosophila) (DLL1), mRNA.	612					Notch receptor processing|Notch signaling pathway|cell communication|cell fate determination|hemopoiesis|regulation of cell adhesion	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		GGTGTTCTTGATCTGCGTGGC	0.612000														88			21		0	0	0.00332997	0	0
STARD8	9754	broad.mit.edu	37	X	67937433	67937434	+	Missense_Mutation	DNP	AA	TG	TG			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:67937433_67937434AA>TG	uc004dxb.3	+	5	891_892	c.677_678AA>TG	c.(676-678)caa>cTG	p.Q226L	STARD8_uc004dxa.3_Missense_Mutation_p.Q146L|STARD8_uc004dxc.4_Missense_Mutation_p.Q146L	NM_001142503	NP_055540	Q92502	STAR8_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.	146					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GGCAGCCAGCAAGCAGAGCCCA	0.554000														8			20		0	0	6.4e-05	0	0
FAN1	22909	broad.mit.edu	37	15	31202912	31202912	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:31202912G>A	uc001zff.3	+	3	1762	c.1471G>A	c.(1471-1473)Gga>Aga	p.G491R	FAN1_uc001zfc.3_Missense_Mutation_p.G491R|FAN1_uc010azw.2_Missense_Mutation_p.G491R|FAN1_uc001zfd.3_Missense_Mutation_p.G491R|FAN1_uc001zfe.3_Missense_Mutation_p.G96R	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	Homo sapiens FANCD2/FANCI-associated nuclease 1 (FAN1), transcript variant 1, mRNA.	491					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						GAATCCCAATGGACAGAAACA	0.468000								Direct reversal of damage						70			17		0	0	0.000566183	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904392	73904392	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:73904392C>T	uc011dyh.2	+	14	2458	c.2111C>T	c.(2110-2112)tCg>tTg	p.S704L	KCNQ5_uc011dyi.2_Missense_Mutation_p.S695L|KCNQ5_uc010kat.3_Missense_Mutation_p.S676L|KCNQ5_uc003pgk.3_Missense_Mutation_p.S685L|KCNQ5_uc011dyj.2_Missense_Mutation_p.S575L|KCNQ5_uc011dyk.2_Missense_Mutation_p.S435L	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	685					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GCCAACATCTCGAGAGGCCTG	0.488000														73			53		0	0	0.00361006	0	0
KRTAP1-1	81851	broad.mit.edu	37	17	39197605	39197605	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:39197605G>A	uc002hvw.1	-	0	109	c.45C>T	c.(43-45)tcC>tcT	p.S15S		NM_030967	NP_112229	Q07627	KRA11_HUMAN	Homo sapiens keratin associated protein 1-1 (KRTAP1-1), mRNA.	15			PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6).			extracellular region|keratin filament				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TCCCACTGGTGGAGCAGCTGG	0.592000														32			37		0	0	0.000953801	0	0
PRKG1	5592	broad.mit.edu	37	10	54011354	54011354	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:54011354C>T	uc001jjm.3	+	9	1284	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F	PRKG1_uc001jjo.3_Silent_p.F367F|PRKG1_uc009xow.2_Silent_p.F70F	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.	352					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CGGCTTTCTTCGCCAACCTGA	0.408000														22			5		0	0	0.000602214	0	0
DBNDD1	79007	broad.mit.edu	37	16	90075245	90075245	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:90075245G>A	uc002fqe.1	-	2	400	c.326C>T	c.(325-327)gCc>gTc	p.A109V	DBNDD1_uc002fqf.1_Missense_Mutation_p.A89V|DBNDD1_uc002fqg.1_Non-coding_Transcript	NM_024043	NP_076948	Q9H9R9	DBND1_HUMAN	Homo sapiens dysbindin (dystrobrevin binding protein 1) domain containing 1 (DBNDD1), transcript variant 2, mRNA.	89						cytoplasm				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0275)		AAAGACCTCGGCCAGCTCCTG	0.647000														16			12		0	0	0.00185496	0	0
TTN	7273	broad.mit.edu	37	2	179582835	179582835	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:179582835C>T	uc021vsy.1	-	82	21391	c.21166G>A	c.(21166-21168)Gaa>Aaa	p.E7056K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E3717K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7983	Ig-like 52.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGTGTGTTCTTTATACCAA	0.383000														18			16		0	0	0.00074312	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058033	152058033	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:152058033C>T	uc001ezo.1	-	2	2190	c.2125G>A	c.(2125-2127)Gag>Aag	p.E709K		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	709							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTTCCTTTCTCTTCTTTGCTA	0.453000														77			21		0	0	0.00229938	0	0
EGFLAM	133584	broad.mit.edu	37	5	38370509	38370509	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:38370509G>A	uc003jlc.2	+	5	1003	c.657G>A	c.(655-657)atG>atA	p.M219I	EGFLAM_uc003jlb.2_Missense_Mutation_p.M219I	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	219	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGAGGGCAATGAATTCCCATG	0.562000														31			5		0	0	0.00198382	0	0
ACAN	176	broad.mit.edu	37	15	89382240	89382240	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:89382240C>T	uc010upo.1	+	2	791	c.417C>T	c.(415-417)atC>atT	p.I139I	ACAN_uc002bmx.3_Silent_p.I139I|ACAN_uc010upp.1_Silent_p.I139I|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	139					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGCATGGCATCGAGGACAGCG	0.612000														70			25		0	0	0.00395357	0	0
MAGEA8	4107	broad.mit.edu	37	X	149013189	149013189	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:149013189G>A	uc022cgq.1	+	0	143	c.143G>A	c.(142-144)gGa>gAa	p.G48E	MAGEA8_uc022cgo.1_Missense_Mutation_p.G48E|MAGEA8_uc004fdw.2_Missense_Mutation_p.G48E|MAGEA8_uc022cgp.1_Missense_Mutation_p.G48E	NM_005364	NP_005355	P43361	MAGA8_HUMAN	Homo sapiens melanoma antigen family A, 8 (MAGEA8), transcript variant 3, mRNA.	48										NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					CTGATCATGGGAACCCTTGAG	0.587000														4			16		0	0	0.000566183	0	0
CDH15	1013	broad.mit.edu	37	16	89249980	89249980	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:89249980G>A	uc002fmt.3	+	3	459	c.382G>A	c.(382-384)Gga>Aga	p.G128R	CDH15_uc010cij.1_Missense_Mutation_p.G128R	NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	128	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CCTGGACCTGGGAGGATCCAC	0.587000														32			16		0	0	0.00152264	0	0
OR6X1	390260	broad.mit.edu	37	11	123624513	123624513	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:123624513G>A	uc010rzy.2	-	0	714	c.714C>T	c.(712-714)acC>acT	p.T238T		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA.	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GCGAGGCACAGGTAGAGAAAG	0.468000														19			4		0	0	0.00024832	0	0
CTNND2	1501	broad.mit.edu	37	5	11364892	11364892	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:11364892G>A	uc003jfa.1	-	7	1433	c.1288C>T	c.(1288-1290)Cag>Tag	p.Q430*	CTNND2_uc010itt.2_Nonsense_Mutation_p.Q339*|CTNND2_uc011cmy.1_Nonsense_Mutation_p.Q93*|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	430					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGGGGCTTCTGATAGACGCGG	0.617000														27			21		0	0	0.00278032	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69094496	69094497	+	Nonsense_Mutation	DNP	AC	TT	TT			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:69094496_69094497AC>TT	uc003hdw.4	-	8	1188_1189	c.1052_1053GT>AA	c.(1051-1053)tgt>tAA	p.C351*		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	351	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TAAATCCAGCACATAACATTGT	0.356000														17			18		0	0	6.4e-05	0	0
PTPN13	5783	broad.mit.edu	37	4	87694091	87694091	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:87694091C>T	uc003hpz.3	+	31	5809	c.5329C>T	c.(5329-5331)Cac>Tac	p.H1777Y	PTPN13_uc003hpy.3_Missense_Mutation_p.H1782Y|PTPN13_uc003hqa.3_Missense_Mutation_p.H1758Y|PTPN13_uc003hqb.3_Missense_Mutation_p.H1586Y|PTPN13_uc003hqc.1_Missense_Mutation_p.H143Y	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	1777						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CTTGGAAAATCACCTTGAAGA	0.318000														9			16		0	0	0.00316338	0	0
ABCA13	154664	broad.mit.edu	37	7	48312795	48312795	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:48312795G>A	uc003toq.2	+	16	3556	c.3532G>A	c.(3532-3534)Ggt>Agt	p.G1178S	ABCA13_uc010kyr.2_Missense_Mutation_p.G681S|ABCA13_uc022acp.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1178					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCTTCATCATGGTTTCACTCA	0.373000														43			22		0	0	0.00152264	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12856118	12856118	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:12856118G>A	uc001auj.2	+	3	1501	c.1398G>A	c.(1396-1398)gaG>gaA	p.E466E		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	466										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACCGTCTGAGGAACTGGAGC	0.542000														68			24		0	0	0.00327116	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509677	106509677	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:106509677G>A	uc003vdv.4	+	1	1756	c.1671G>A	c.(1669-1671)gcG>gcA	p.A557A	PIK3CG_uc003vdu.3_Silent_p.A557A|PIK3CG_uc003vdw.3_Silent_p.A557A	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	557					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.A557A(4)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AATTGGAGGCGATCATAGCCA	0.532000														36			22		0	0	0.00188189	0	0
SYNE1	23345	broad.mit.edu	37	6	152826341	152826341	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:152826341G>A	uc021zhb.1	-	6	996	c.773C>T	c.(772-774)cCt>cTt	p.P258L	SYNE1_uc003qot.4_Missense_Mutation_p.P265L|SYNE1_uc003qou.4_Missense_Mutation_p.P258L|SYNE1_uc010kjb.1_Missense_Mutation_p.P258L|SYNE1_uc003qpa.1_Missense_Mutation_p.P258L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	258	Actin-binding.|CH 2.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTACCTTCAGGATCTAGCAG	0.428000										HNSCC(10;0.0054)				29			18		0	0	0.000958276	0	0
TTN	7273	broad.mit.edu	37	2	179473426	179473426	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:179473426C>T	uc021vsy.1	-	222	44833	c.44608G>A	c.(44608-44610)Gga>Aga	p.G14870R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G8565R|TTN_uc021vta.1_Missense_Mutation_p.G8498R|TTN_uc021vtb.1_Missense_Mutation_p.G8373R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15797	Fibronectin type-III 7.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACTCTTTTCCTTCAATCAGT	0.398000														4			5		0	0	0.000602214	0	0
ABCG1	9619	broad.mit.edu	37	21	43702476	43702476	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:43702476C>T	uc011aev.2	+	5	788	c.714C>T	c.(712-714)atC>atT	p.I238I	ABCG1_uc002zam.3_Silent_p.I205I|ABCG1_uc002zan.3_Silent_p.I229I|ABCG1_uc002zao.3_Silent_p.I224I|ABCG1_uc002zap.3_Silent_p.I227I|ABCG1_uc002zaq.3_Silent_p.I227I|ABCG1_uc002zar.3_Silent_p.I238I	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	227	ABC transporter.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GCCTGGCCATCGCGCTGGAGC	0.627000														29			8		0	0	0.000442599	0	0
MDGA1	266727	broad.mit.edu	37	6	37623535	37623535	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:37623535C>T	uc003onu.1	-	3	1699	c.520G>A	c.(520-522)Gat>Aat	p.D174N		NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	174	Ig-like 2.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GATAGGGTATCGGAACCCCGC	0.587000														13			5		0	0	0.00198382	0	0
SLC9C2	284525	broad.mit.edu	37	1	173503730	173503730	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:173503730G>A	uc001giz.2	-	15	2290	c.1867C>T	c.(1867-1869)Cct>Tct	p.P623S	SLC9C2_uc009wwe.2_Missense_Mutation_p.P181S|SLC9C2_uc010pmq.1_Intron	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	623					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										ATTATCATAGGATAAATATAT	0.259000														39			43		0	0	0.0025221	0	0
ASF1B	55723	broad.mit.edu	37	19	14231322	14231322	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:14231322G>A	uc002mye.3	-	3	730	c.558C>T	c.(556-558)ctC>ctT	p.L186L	PRKACA_uc002myc.3_5'Flank	NM_018154	NP_060624	Q9NVP2	ASF1B_HUMAN	Homo sapiens ASF1 anti-silencing function 1 homolog B (S. cerevisiae) (ASF1B), mRNA.	186					cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						TGCAGCCAGGGAGCCCCAAGC	0.637000														34			5		0	0	0.000602214	0	0
YLPM1	56252	broad.mit.edu	37	14	75248527	75248527	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:75248527C>T	uc001xqj.4	+	3	1905	c.1781C>T	c.(1780-1782)cCt>cTt	p.P594L	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CTCCCCCCACCTTCCCTGTCT	0.592000														38			25		0	0	0.00127121	0	0
ANAPC7	51434	broad.mit.edu	37	12	110824147	110824147	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:110824147G>A	uc001tqo.2	-	5	905	c.904C>T	c.(904-906)Cct>Tct	p.P302S	ANAPC7_uc001tqp.4_Missense_Mutation_p.P302S	NM_016238	NP_057322	Q9UJX3	APC7_HUMAN	Homo sapiens anaphase promoting complex subunit 7 (ANAPC7), transcript variant 1, mRNA.	302				P -> L (in Ref. 1; AAF05754).	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						ATCAGATAAGGATCCAACATC	0.438000														157			142		0	0	0.00361006	0	0
HECW1	23072	broad.mit.edu	37	7	43547680	43547680	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:43547680G>A	uc003tid.1	+	22	4421	c.3816G>A	c.(3814-3816)cgG>cgA	p.R1272R	HECW1_uc011kbi.1_Silent_p.R1238R	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1272	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.S1272T(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCTATTCGCGGAAAGAGCTCC	0.542000														29			17		0	0	0.00152264	0	0
DLX1	1745	broad.mit.edu	37	2	172952900	172952900	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:172952900G>A	uc002uhl.3	+	2	881	c.683G>A	c.(682-684)gGa>gAa	p.G228E	DLX1_uc002uhm.3_3'UTR	NM_178120	NP_835221	P56177	DLX1_HUMAN	Homo sapiens distal-less homeobox 1 (DLX1), transcript variant 1, mRNA.	228						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|lung(4)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GGCTCAGGAGGAAACGCGGGC	0.627000														58			27		0	0	0.000720815	0	0
OR52E6	390078	broad.mit.edu	37	11	5862870	5862870	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:5862870G>A	uc010qzq.2	-	0	258	c.258C>T	c.(256-258)atC>atT	p.I86I	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAACCAGAAGATGCCCAGCA	0.473000														21			21		0	0	0.00152264	0	0
ADAM22	53616	broad.mit.edu	37	7	87774745	87774745	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:87774745G>A	uc003ujn.3	+	16	1623	c.1408G>A	c.(1408-1410)Gga>Aga	p.G470R	ADAM22_uc003ujk.2_Missense_Mutation_p.G470R|ADAM22_uc003ujl.2_Missense_Mutation_p.G470R|ADAM22_uc003ujm.3_Missense_Mutation_p.G470R|ADAM22_uc003ujo.3_Missense_Mutation_p.G470R|ADAM22_uc003ujp.1_Missense_Mutation_p.G522R	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	470	Disintegrin.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	p.E469K(1)		endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TGTCCTTGAAGGAGCAGAGTG	0.348000														64			17		0	0	0.00121646	0	0
THSD7B	80731	broad.mit.edu	37	2	137917934	137917934	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:137917934A>T	uc002tva.1	+	4	1428	c.1428A>T	c.(1426-1428)aaA>aaT	p.K476N	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.K366N	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTCAGGGGAAAAAAGGTGAGT	0.458000														21			8		0	0	0.00307968	0	0
UGT2B10	7365	broad.mit.edu	37	4	69885482	69885482	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:69885482G>A	uc011cao.1	-	2	612	c.486C>T	c.(484-486)ttC>ttT	p.F162F	UGT2B10_uc011can.1_Intron			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	206					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						CCCTCTCCATGAAAGTCATTT	0.363000														1			5		0	0	0.000602214	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501749	140501749	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140501749G>A	uc003lip.1	+	0	169	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	57	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGAATTGGGGAACTGGCCTC	0.557000														48			8		0	0	0.000442599	0	0
KIF1C	10749	broad.mit.edu	37	17	4926874	4926874	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:4926874C>T	uc002gan.2	+	22	3097	c.2740C>T	c.(2740-2742)Ccc>Tcc	p.P914S		NM_006612	NP_006603	O43896	KIF1C_HUMAN	Homo sapiens kinesin family member 1C (KIF1C), mRNA.	914					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	Golgi apparatus|endoplasmic reticulum|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						AGCCCGGCCCCCCTCGCCACC	0.662000														15			20		0	0	0.00229938	0	0
TTN	7273	broad.mit.edu	37	2	179422211	179422211	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:179422211C>T	uc021vsy.1	-	277	80299	c.80074G>A	c.(80074-80076)Gaa>Aaa	p.E26692K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E20387K|TTN_uc021vta.1_Missense_Mutation_p.E20320K|TTN_uc021vtb.1_Missense_Mutation_p.E20195K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27619	Fibronectin type-III 94.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACACTGGTTCATGCCAGCCC	0.448000														44			18		0	0	0.000958276	0	0
HK3	3101	broad.mit.edu	37	5	176309021	176309021	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:176309021C>T	uc003mfa.3	-	15	2253	c.2161G>A	c.(2161-2163)Gat>Aat	p.D721N	HK3_uc003mez.3_Missense_Mutation_p.D277N	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	721	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAGAGCCATCGTCCCCAAAG	0.642000														61			7		0	0	0.00198382	0	0
SLC5A5	6528	broad.mit.edu	37	19	18004596	18004596	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:18004596C>T	uc002nhr.4	+	14	2189	c.1842C>T	c.(1840-1842)ttC>ttT	p.F614F		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA.	614					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GTCTGTTTTTCTTGGGGCAGA	0.577000														8			5		0	0	0.000602214	0	0
HSF2	3298	broad.mit.edu	37	6	122744791	122744791	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:122744791C>T	uc003pyu.2	+	9	1323	c.1136C>T	c.(1135-1137)tCa>tTa	p.S379L	HSF2_uc003pyv.2_Missense_Mutation_p.S379L	NM_004506	NP_004497	Q03933	HSF2_HUMAN	Homo sapiens heat shock transcription factor 2 (HSF2), transcript variant 1, mRNA.	379	Hydrophobic repeat HR-C.				response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		GCCATGCTATCAGGAAGACAA	0.348000														14			13		0	0	0.000566183	0	0
LTF	4057	broad.mit.edu	37	3	46496877	46496877	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:46496877G>A	uc003cpq.3	-	4	796	c.555C>T	c.(553-555)ttC>ttT	p.F185F	LTF_uc003fzr.3_Silent_p.F141F|LTF_uc010hjh.3_Silent_p.F185F|LTF_uc003cpr.3_Silent_p.F172F	NM_002343	NP_001186078	P02788	TRFL_HUMAN	Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	185	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	ACAGGTTGGGGAACTGTCCTT	0.552000														35			22		0	0	0.00229938	0	0
MSL3P1	151507	broad.mit.edu	37	2	234774899	234774900	+	Missense_Mutation	DNP	TC	CT	CT			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:234774899_234774900TC>CT	uc010znf.2	-	1	1180_1181	c.942_943GA>AG	c.(940-945)ttgaag>ttAGag	p.K315E						Homo sapiens male-specific lethal 3 homolog (Drosophila) pseudogene 1 (MSL3P1), non-coding RNA.																		TCAAAGTGCTTCAATAAAGCCT	0.431000														52			13		0	0	6.4e-05	0	0
SLC38A3	10991	broad.mit.edu	37	3	50256359	50256359	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:50256359C>T	uc003cyn.4	+	13	1423	c.1282C>T	c.(1282-1284)Ctg>Ttg	p.L428L		NM_006841	NP_006832	Q99624	S38A3_HUMAN	Homo sapiens solute carrier family 38, member 3 (SLC38A3), mRNA.	429					cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|antiporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	CCCCAACATCCTGGGCATCTT	0.552000														30			17		0	0	0.00121646	0	0
RYR1	6261	broad.mit.edu	37	19	38959762	38959762	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:38959762G>A	uc002oit.3	+	25	3668	c.3538G>A	c.(3538-3540)Gag>Aag	p.E1180K	RYR1_uc002oiu.3_Missense_Mutation_p.E1180K	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1180	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|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			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGCCTTCCGGGAGATTGAGAT	0.542000														46			17		0	0	0.00188189	0	0
TSEN54	283989	broad.mit.edu	37	17	73518163	73518163	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:73518163C>T	uc002jof.1	+	7	1034	c.1001C>T	c.(1000-1002)gCt>gTt	p.A334V		NM_207346	NP_997229	Q7Z6J9	SEN54_HUMAN	Homo sapiens tRNA splicing endonuclease 54 homolog (S. cerevisiae) (TSEN54), mRNA.	334					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAGACAGACGCTGAGTCCTGG	0.657000														4			3		0	0	0.00024832	0	0
RBP3	5949	broad.mit.edu	37	10	48390435	48390435	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:48390435C>T	uc001jez.3	-	0	557	c.443G>A	c.(442-444)gGg>gAg	p.G148E		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	148	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CAGGAACTCCCCCATCATGCT	0.652000														38			12		0	0	0.00185496	0	0
IKBKE	9641	broad.mit.edu	37	1	206651542	206651542	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:206651542C>T	uc001hdz.2	+	8	1430	c.852C>T	c.(850-852)atC>atT	p.I284I	IKBKE_uc009xbu.2_3'UTR|IKBKE_uc001hea.2_Silent_p.I199I|IKBKE_uc009xbv.2_Silent_p.I284I	NM_014002	NP_001180250	Q14164	IKKE_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA.	284	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	PML body|cytosol|endosome membrane|plasma membrane	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					TGGCCAACATCCTGGAGGTGG	0.622000														31			33		0	0	0.0024448	0	0
GFI1B	8328	broad.mit.edu	37	9	135862084	135862084	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:135862084G>A	uc004ccg.3	+	1	374	c.19G>A	c.(19-21)Gtg>Atg	p.V7M	GFI1B_uc010mzy.3_Missense_Mutation_p.V7M	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	Homo sapiens growth factor independent 1B transcription repressor (GFI1B), transcript variant 1, mRNA.	7	Mediates repression of transcription.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		CTCCTTCCTGGTGAAGAGCAA	0.597000														5			5		0	0	0.00198382	0	0
EPPK1	83481	broad.mit.edu	37	8	144945385	144945385	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:144945385C>T	uc003zaa.1	-	0	2050	c.2037G>A	c.(2035-2037)gcG>gcA	p.A679A		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	679						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACAGCAGCTTCGCGAACACAT	0.602000														19			11		0	0	0.000978159	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140214425	140214425	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140214425C>T	uc003lhq.2	+	0	457	c.457C>T	c.(457-459)Cca>Tca	p.P153S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.P153S	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	168	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.P153S(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTCGGTTTCCACTAGAGGG	0.557000														40			30		0	0	0.000953801	0	0
TNFRSF8	943	broad.mit.edu	37	1	12183377	12183377	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:12183377C>T	uc001atq.3	+	8	1205	c.983C>T	c.(982-984)cCc>cTc	p.P328L	TNFRSF8_uc010obc.2_Missense_Mutation_p.P217L|TNFRSF8_uc001atr.3_5'Flank|TNFRSF8_uc001ats.3_5'Flank	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	328					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGCGCCACCCCTGGGGACC	0.622000														7			7		0	0	0.00198382	0	0
CHI3L2	1117	broad.mit.edu	37	1	111778695	111778695	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:111778695G>A	uc001eam.3	+	6	726	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	CHI3L2_uc001ean.3_Missense_Mutation_p.E209K|CHI3L2_uc001eao.3_Missense_Mutation_p.E140K	NM_004000	NP_001020370	Q15782	CH3L2_HUMAN	Homo sapiens chitinase 3-like 2 (CHI3L2), transcript variant 1, mRNA.	219					chitin catabolic process	extracellular space	cation binding|chitinase activity	p.W218L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		TGGGTCTTGGGAAAAGCCCCT	0.517000														145			69		0	0	0.00361006	0	0
MED25	81857	broad.mit.edu	37	19	50338993	50338993	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:50338993C>T	uc002ppw.2	+	15	1819	c.1756C>T	c.(1756-1758)Cgc>Tgc	p.R586C	MED25_uc010ybe.2_Missense_Mutation_p.R373C|MED25_uc002ppx.1_Missense_Mutation_p.R367C	NM_030973	NP_112235	Q71SY5	MED25_HUMAN	Homo sapiens mediator complex subunit 25 (MED25), mRNA.	586	Interaction with RARA.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GCTCCAGCTCCGCCCACCGCA	0.721000														5			3		0	0	6.4e-05	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128862023	128862023	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:128862023G>A	uc003kvb.1	+	3	942	c.942G>A	c.(940-942)ggG>ggA	p.G314G	ADAMTS19_uc003kvc.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	314					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R313K(1)|p.R313I(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GTGGAAGAGGGAAACGATATT	0.393000														17			13		0	0	0.00136819	0	0
UGT8	7368	broad.mit.edu	37	4	115586864	115586864	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:115586864G>A	uc003ibs.2	+	3	1516	c.994G>A	c.(994-996)Gga>Aga	p.G332R	UGT8_uc003ibt.2_Missense_Mutation_p.G332R|UGT8_uc011cge.1_Non-coding_Transcript	NM_001128174	NP_003351	Q16880	CGT_HUMAN	Homo sapiens UDP glycosyltransferase 8 (UGT8), transcript variant 1, mRNA.	332					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		AAAGAATCTAGGAAACAACAC	0.343000														20			12		0	0	0.00185496	0	0
DMWD	1762	broad.mit.edu	37	19	46289452	46289452	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:46289452C>T	uc002pdj.1	-	2	1348	c.1302G>A	c.(1300-1302)gcG>gcA	p.A434A	DMWD_uc021uwc.1_Missense_Mutation_p.R88Q|DMWD_uc010eko.1_Silent_p.A119A	NM_004943	NP_004934	Q09019	DMWD_HUMAN	Homo sapiens dystrophia myotonica, WD repeat containing (DMWD), mRNA.	434					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		TGTCCTGGCCCGCCGAGCCAA	0.706000														7			5		0	0	0.000602214	0	0
MOCS1	4337	broad.mit.edu	37	6	39881527	39881527	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:39881527G>A	uc003opb.3	-	3	774	c.636C>T	c.(634-636)aaC>aaT	p.N212N	MOCS1_uc003opa.3_Silent_p.N212N|MOCS1_uc003opd.3_Silent_p.N212N|MOCS1_uc003ope.3_Silent_p.N125N	NM_005943	NP_005934	Q9NZB8	MOCS1_HUMAN	Homo sapiens molybdenum cofactor synthesis 1 (MOCS1), transcript variant 1, mRNA.	212	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|GTP binding|catalytic activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCTTCACAGGGTTGTAGCCCA	0.612000														49			28		0	0	0.00283554	0	0
RNF212	285498	broad.mit.edu	37	4	1090587	1090587	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:1090587C>T	uc003gcj.3	-	2	312	c.212G>A	c.(211-213)aGt>aAt	p.S71N	RNF212_uc003gci.3_Missense_Mutation_p.S71N|RNF212_uc010ibp.3_Non-coding_Transcript|RNF212_uc010ibq.3_Missense_Mutation_p.S71N|RNF212_uc021xkh.1_Missense_Mutation_p.S71N	NM_001131034	NP_001124506	Q495C1	RN212_HUMAN	Homo sapiens ring finger protein 212 (RNF212), transcript variant 1, mRNA.	71							zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		CTTACACAGACTGTCTATGCT	0.502000														398			78		0	0	0.00361006	0	0
PSG3	5671	broad.mit.edu	37	19	43371359	43371359	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:43371359G>A	uc002ovd.1	-	5	2276	c.2138_splice	c.e5+1		PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG3_uc002oun.3_Intron|PSG3_uc002ovc.3_Intron|PSG3_uc002ova.2_Intron|PSG3_uc002ouz.2_Intron|PSG3_uc002ovb.3_Intron	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.						defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				tctcataacaggtatactaca	0.343000														13			11		0	0	0.000673444	0	0
KIAA1407	57577	broad.mit.edu	37	3	113724708	113724708	+	Silent	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:113724708A>G	uc003eax.3	-	9	1662	c.1515T>C	c.(1513-1515)ggT>ggC	p.G505G	KIAA1407_uc011bin.1_Non-coding_Transcript|KIAA1407_uc011bio.1_Silent_p.G483G|KIAA1407_uc011bip.1_Silent_p.G492G	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	505										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TCTGAAGGGAACCCTGCAAGT	0.547000														80			44		0	0	0.00321405	0	0
NOD2	64127	broad.mit.edu	37	16	50733553	50733553	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:50733553C>T	uc002egm.1	+	1	333	c.228C>T	c.(226-228)ctC>ctT	p.L76L	NOD2_uc010cbj.1_Silent_p.L49L|NOD2_uc021tia.1_5'UTR|NOD2_uc010cbk.1_Silent_p.L49L|NOD2_uc002egl.1_5'UTR	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	76	CARD 1.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GCTTCCACCTCCTGGGCCAGC	0.627000														58			24		0	0	0.00332997	0	0
CREBBP	1387	broad.mit.edu	37	16	3778043	3778043	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:3778043G>A	uc002cvv.3	-	30	7209	c.7005C>T	c.(7003-7005)atC>atT	p.I2335I	CREBBP_uc002cvw.3_Silent_p.I2297I	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	2335					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGGACGTGGCGATCTGCTGGC	0.647000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							82			39		0	0	0.00111076	0	0
CHRNA9	55584	broad.mit.edu	37	4	40356480	40356480	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:40356480G>A	uc003gva.1	+	4	1399	c.1383G>A	c.(1381-1383)tgG>tgA	p.W461*		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	461					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	TCTTCATGTGGATTTTTTTCA	0.408000														110			53		0	0	0.00361006	0	0
ZPBP2	124626	broad.mit.edu	37	17	38031605	38031605	+	Silent	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:38031605T>C	uc002hte.3	+	6	960	c.807T>C	c.(805-807)agT>agC	p.S269S	ZPBP2_uc002htf.3_Silent_p.S247S	NM_199321	NP_955353	Q6X784	ZPBP2_HUMAN	Homo sapiens zona pellucida binding protein 2 (ZPBP2), transcript variant 2, mRNA.	269					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGGACCACAGTTTGCAAGTAG	0.378000														16			13		0	0	0.00316338	0	0
TSGA10	80705	broad.mit.edu	37	2	99685455	99685455	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:99685455A>G	uc002szg.4	-	12	1742	c.1114T>C	c.(1114-1116)Tcc>Ccc	p.S372P	TSGA10_uc002szh.4_Missense_Mutation_p.S372P|TSGA10_uc002szi.4_Missense_Mutation_p.S372P|TSGA10_uc010fin.1_Missense_Mutation_p.S372P	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	Homo sapiens testis specific, 10 (TSGA10), transcript variant 2, mRNA.	372					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						AATTTTTTGGACAGTGCCTAC	0.264000														62			13		0	0	0.00136819	0	0
POLDIP3	84271	broad.mit.edu	37	22	42988045	42988046	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:42988045_42988046GG>AA	uc011apq.2	-	6	1086_1087	c.987_988CC>TT	c.(985-990)gtccat>gtTTat	p.H330Y	POLDIP3_uc011app.2_Missense_Mutation_p.H234Y|POLDIP3_uc011apr.2_Non-coding_Transcript|POLDIP3_uc003bcu.3_Missense_Mutation_p.H313Y|POLDIP3_uc003bcv.3_Missense_Mutation_p.H284Y|POLDIP3_uc010gza.3_Non-coding_Transcript	NM_032311	NP_115687	Q9BY77	PDIP3_HUMAN	Homo sapiens polymerase (DNA-directed), delta interacting protein 3 (POLDIP3), transcript variant 1, mRNA.	313	RRM.				positive regulation of translation	cytoplasm|nuclear speck	RNA binding|nucleotide binding|protein binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						ACCCCAGGATGGACCAGTCGAG	0.540000														92			34		0	0	6.4e-05	0	0
MEGF8	1954	broad.mit.edu	37	19	42862990	42862990	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:42862990C>T	uc002otl.4	+	28	5661	c.5026C>T	c.(5026-5028)Cct>Tct	p.P1676S	MEGF8_uc002otm.4_Missense_Mutation_p.P1284S	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	1743						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGGCCAAGTTCCTGGGGAGCA	0.597000														14			4		0	0	0.000602214	0	0
EGF	1950	broad.mit.edu	37	4	110866389	110866389	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:110866389C>T	uc003hzy.4	+	4	1350	c.898C>T	c.(898-900)Cca>Tca	p.P300S	EGF_uc011cfu.2_Missense_Mutation_p.P300S|EGF_uc011cfv.2_Missense_Mutation_p.P300S	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	300					DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AGTAGTGCATCCACTTGCACA	0.478000														11			17		0	0	0.00074312	0	0
ZNF536	9745	broad.mit.edu	37	19	31040070	31040070	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:31040070G>A	uc002nsu.1	+	3	3682	c.3544G>A	c.(3544-3546)Gat>Aat	p.D1182N	ZNF536_uc010edd.1_Missense_Mutation_p.D1182N	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGATGAAGAGGATGTTGAAAC	0.557000														60			18		0	0	0.00152264	0	0
STAB1	23166	broad.mit.edu	37	3	52552328	52552328	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:52552328G>A	uc003dej.3	+	46	4836	c.4762_splice	c.e46-1	p.E1588_splice	STAB1_uc003dek.1_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1588	FAS1 5.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCCCCCCAGGAGCTCCTGAG	0.647000														34			14		0	0	0.00152264	0	0
OR7D2	162998	broad.mit.edu	37	19	9297116	9297116	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:9297116G>A	uc002mkz.1	+	0	847	c.659G>A	c.(658-660)cGa>cAa	p.R220Q		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.	220					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TCTTATTCACGAATTGCTTCA	0.463000														43			31		0	0	0.00209593	0	0
THSD7B	80731	broad.mit.edu	37	2	138033596	138033596	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:138033596G>A	uc002tva.1	+	11	2407	c.2407_splice	c.e11+1	p.A803_splice	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Splice_Site_p.A693_splice	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ACAAACAAGAGGTATGATGAT	0.368000														4			4		0	0	0.00024832	0	0
NLRP1	22861	broad.mit.edu	37	17	5425088	5425088	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:5425088G>A	uc002gci.3	-	12	4094	c.3539C>T	c.(3538-3540)tCc>tTc	p.S1180F	NLRP1_uc002gcg.1_Missense_Mutation_p.S1184F|NLRP1_uc002gch.4_Missense_Mutation_p.S1180F|NLRP1_uc002gck.3_Missense_Mutation_p.S1180F|NLRP1_uc002gcj.3_Missense_Mutation_p.S1150F|NLRP1_uc002gcl.3_Missense_Mutation_p.S1150F	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	1180					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TTGGAACAGGGATGTGTCCAC	0.478000														33			25		0	0	0.00395357	0	0
OR2B11	127623	broad.mit.edu	37	1	247614961	247614961	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:247614961G>A	uc010pyx.2	-	0	324	c.324C>T	c.(322-324)ttC>ttT	p.F108F		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V107F(2)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCAGCCAGTGGAAGACTGCAT	0.592000														32			41		0	0	0.00285205	0	0
PCDH9	5101	broad.mit.edu	37	13	67800118	67800118	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:67800118T>C	uc001vik.3	-	1	3147	c.2455A>G	c.(2455-2457)Atc>Gtc	p.I819V	PCDH9_uc001vil.3_Missense_Mutation_p.I819V|PCDH9_uc010thl.2_Missense_Mutation_p.I819V|PCDH9_uc001vin.3_Missense_Mutation_p.I819V	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	819					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CCGGCGATGATGGCAATCATG	0.512000														53			43		0	0	0.00361006	0	0
TIAM2	26230	broad.mit.edu	37	6	155485721	155485721	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:155485721C>T	uc003qqb.3	+	9	3474	c.2201C>T	c.(2200-2202)tCt>tTt	p.S734F	TIAM2_uc003qqe.3_Missense_Mutation_p.S734F|TIAM2_uc010kjj.3_Missense_Mutation_p.S267F|TIAM2_uc003qqf.3_Missense_Mutation_p.S86F|TIAM2_uc011efl.1_Missense_Mutation_p.S46F|TIAM2_uc003qqg.3_Missense_Mutation_p.S46F	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	734					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TCTGTTTCCTCTTTCCATGCT	0.587000														95			70		0	0	0.00361006	0	0
KIAA0196	9897	broad.mit.edu	37	8	126061263	126061263	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:126061263G>T	uc003yrt.3	-	18	2693	c.2364C>A	c.(2362-2364)aaC>aaA	p.N788K	KIAA0196_uc011lir.2_Missense_Mutation_p.N640K	NM_014846	NP_055661	Q12768	STRUM_HUMAN	Homo sapiens KIAA0196 (KIAA0196), mRNA.	788					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TTCTTAGAAAGTTATTACACT	0.318000														20			10		1.58986e-06	3.60227e-06	0.000673444	1	0
KRT75	9119	broad.mit.edu	37	12	52825840	52825840	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:52825840C>T	uc001saj.2	-	2	746	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	242	Coil 1B.|Rod.		E -> G (in dbSNP:rs2232393).			keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TTGTTAATTTCATCTTCGTAC	0.453000														37			6		0	0	0.00198382	0	0
MYO15A	51168	broad.mit.edu	37	17	18045051	18045051	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:18045051C>T	uc021trm.1	+	21	5835	c.5616C>T	c.(5614-5616)gtC>gtT	p.V1872V	MYO15A_uc021trl.1_Silent_p.V1870V	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1872	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGTGCAAAGTCATGCCAAACA	0.577000											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		39			48		0	0	0.00361006	0	0
PARM1	25849	broad.mit.edu	37	4	75937790	75937790	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:75937790C>T	uc003hih.2	+	1	452	c.199C>T	c.(199-201)Cca>Tca	p.P67S		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	Homo sapiens prostate androgen-regulated mucin-like protein 1 (PARM1), mRNA.	67					positive regulation of telomerase activity	Golgi membrane|early endosome|endosome membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CTCGGTGCTCCCAGTTACAGC	0.517000														16			27		0	0	0.00395357	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1798340	1798340	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:1798340G>A	uc010uvl.2	+	6	1210	c.1090G>A	c.(1090-1092)Gga>Aga	p.G364R	MAPK8IP3_uc002cmk.3_Missense_Mutation_p.G363R|MAPK8IP3_uc002cml.3_Missense_Mutation_p.G363R|MAPK8IP3_uc021tah.1_Missense_Mutation_p.G363R	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	363					vesicle-mediated transport	Golgi membrane	MAP-kinase scaffold activity|kinesin binding|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GGACCGCACAGGAAGCAGGTA	0.582000														20			11		0	0	0.000978159	0	0
SLAMF7	57823	broad.mit.edu	37	1	160720162	160720162	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:160720162C>T	uc001fwq.3	+	3	733	c.718C>T	c.(718-720)Ctc>Ttc	p.L240F	SLAMF7_uc010pjn.2_Missense_Mutation_p.L146F|SLAMF7_uc001fws.3_Missense_Mutation_p.L133F|SLAMF7_uc001fwr.3_Missense_Mutation_p.L240F|SLAMF7_uc010pjo.2_Intron|SLAMF7_uc010pjp.2_Intron|SLAMF7_uc010pjq.2_Intron|SLAMF7_uc010pjr.2_Intron	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	Homo sapiens SLAM family member 7 (SLAMF7), mRNA.	240					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CCTGCTCAGTCTCTTTGTACT	0.502000														219			46		0	0	0.00321405	0	0
TRBV3-1	28619	broad.mit.edu	37	7	142008598	142008598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:142008598C>T	uc003vxf.3	+	1	120	c.71C>T	c.(70-72)tCc>tTc	p.S24F	TRBV2_uc011kro.1_Intron|TRBV3-1_uc022amz.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		ACAGCTGTTTCCCAGACTCCA	0.453000														29			17		0	0	0.000566183	0	0
ADAM15	8751	broad.mit.edu	37	1	155030122	155030122	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:155030122G>A	uc001fgr.1	+	12	1434	c.1333G>A	c.(1333-1335)Gat>Aat	p.D445N	LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_Missense_Mutation_p.D130N|ADAM15_uc010pet.1_Missense_Mutation_p.D429N|ADAM15_uc010peu.1_Missense_Mutation_p.D462N|ADAM15_uc001fgx.1_Missense_Mutation_p.D445N|ADAM15_uc001fgz.1_Non-coding_Transcript|ADAM15_uc001fgy.1_Non-coding_Transcript|ADAM15_uc001fha.1_Non-coding_Transcript|ADAM15_uc001fgt.1_Missense_Mutation_p.D445N|ADAM15_uc001fgs.1_Missense_Mutation_p.D445N|ADAM15_uc010pev.1_Missense_Mutation_p.D455N|ADAM15_uc001fgu.1_Missense_Mutation_p.D445N|ADAM15_uc001fgv.1_Missense_Mutation_p.D445N|ADAM15_uc001fgw.1_Missense_Mutation_p.D445N	NM_207197	NP_997080	Q13444	ADA15_HUMAN	Homo sapiens ADAM metallopeptidase domain 15 (ADAM15), transcript variant 6, mRNA.	445	Disintegrin.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GGACTGCGTCGATCCCTGCTG	0.612000														146			11		0	0	0.000978159	0	0
OR2L2	26246	broad.mit.edu	37	1	248202499	248202499	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:248202499G>A	uc001idw.3	+	0	1026	c.930G>A	c.(928-930)gtG>gtA	p.V310V	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCTTCTCAGTGAAAATGTAGA	0.438000														35			25		0	0	0.001512	0	0
BRWD1	54014	broad.mit.edu	37	21	40571568	40571568	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:40571568C>T	uc002yxk.2	-	39	5069	c.4774G>A	c.(4774-4776)Gga>Aga	p.G1592R	BRWD1_uc010goc.1_Missense_Mutation_p.G235R|BRWD1_uc021wjf.1_Missense_Mutation_p.G1592R	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	1592					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTGCCACATCCATTTGCTAAT	0.303000											OREG0003861	type=REGULATORY REGION|Gene=BRWD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		39			18		0	0	0.00152264	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140236082	140236082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140236082G>A	uc003lhx.2	+	0	449	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Missense_Mutation_p.R150Q|PCDHAC2_uc011dad.2_Missense_Mutation_p.R150Q	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	166	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.R150Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGACTCTCGATTTCCACTA	0.438000														148			20		0	0	0.00188189	0	0
GDF15	9518	broad.mit.edu	37	19	18499399	18499399	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:18499399G>A	uc002niv.2	+	1	613	c.581G>A	c.(580-582)aGa>aAa	p.R194K		NM_004864	NP_004855	Q99988	GDF15_HUMAN	Homo sapiens growth differentiation factor 15 (GDF15), mRNA.	194					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						GGGCGCCGCAGAGCGCGTGCG	0.731000											OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		11			4		0	0	0.00024832	0	0
PARD3B	117583	broad.mit.edu	37	2	206364732	206364732	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:206364732C>T	uc002var.2	+	20	3364	c.3157C>T	c.(3157-3159)Cca>Tca	p.P1053S	PARD3B_uc002vao.2_Missense_Mutation_p.P952S|PARD3B_uc002vap.2_Missense_Mutation_p.P991S|PARD3B_uc002vaq.2_Missense_Mutation_p.P984S	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	1053					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AAGAGCAAGGCCATCTGAGTA	0.448000														78			18		0	0	0.00152264	0	0
ETV5	2119	broad.mit.edu	37	3	185766567	185766567	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:185766567G>A	uc003fpy.3	-	12	1585	c.1520C>T	c.(1519-1521)cCg>cTg	p.P507L	ETV5_uc003fpz.3_Missense_Mutation_p.P465L	NM_004454	NP_004445	P41161	ETV5_HUMAN	Homo sapiens ets variant 5 (ETV5), mRNA.	465					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			CTTCAGGAACGGACGCTGGTT	0.592000			T	"""TMPRSS2, SCL45A3"""	Prostate									34			12		0	0	0.00244969	0	0
CDH5	1003	broad.mit.edu	37	16	66431897	66431897	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:66431897G>A	uc002eom.4	+	8	1529	c.1373G>A	c.(1372-1374)gGa>gAa	p.G458E		NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	458	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		ACCCCCACAGGAAAAGAATCC	0.537000														86			35		0	0	0.00148497	0	0
ZMPSTE24	10269	broad.mit.edu	37	1	40726592	40726592	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:40726592C>T	uc001cfg.3	+	1	416	c.205C>T	c.(205-207)Ctc>Ttc	p.L69F		NM_005857	NP_005848	O75844	FACE1_HUMAN	Homo sapiens zinc metallopeptidase (STE24 homolog, S. cerevisiae) (ZMPSTE24), mRNA.	69						Golgi membrane|endoplasmic reticulum membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			GAAATCTCGACTCTATCAACT	0.378000														88			56		0	0	0.00361006	0	0
AGAP8	728404	broad.mit.edu	37	10	48902286	48902286	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:48902286G>A	uc009xnv.2	-	2	693	c.587C>T	c.(586-588)gCc>gTc	p.A196V		NM_001077686	NP_001071154	Q5SRD3	AGAP8_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 8 (AGAP8), mRNA.	374					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			breast(1)|endometrium(1)|lung(2)|ovary(2)	6						CTTTTTATTGGCATGAGGGGA	0.522000														67			35		0	0	0.00283554	0	0
ITIH5	80760	broad.mit.edu	37	10	7618458	7618458	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:7618458C>T	uc021pmv.1	-	9	2042	c.1936G>A	c.(1936-1938)Gaa>Aaa	p.E646K	ITIH5_uc021pmu.1_Missense_Mutation_p.E432K|ITIH5_uc001ijr.2_Missense_Mutation_p.E646K	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	646					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ACCACCGGTTCGGGTCCCATG	0.682000														14			5		0	0	0.00116845	0	0
HCRTR2	3062	broad.mit.edu	37	6	55039539	55039539	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:55039539G>A	uc003pcl.3	+	0	469	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzu.1_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	52					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCACCCGAAAGAATATGAGTG	0.557000														62			9		0	0	0.000274275	0	0
ADAM32	203102	broad.mit.edu	37	8	39027493	39027493	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:39027493C>T	uc003xmt.4	+	9	1137	c.892C>T	c.(892-894)Cgt>Tgt	p.R298C	ADAM32_uc011lch.2_Missense_Mutation_p.R305C|ADAM32_uc003xmu.4_Missense_Mutation_p.R298C	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	298	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.R297S(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			GTGTATTACTCGTTATTCTGC	0.254000														42			12		0	0	0.00074312	0	0
ETV2	2116	broad.mit.edu	37	19	36134494	36134494	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:36134494C>T	uc002oas.2	+	3	1077	c.638C>T	c.(637-639)cCc>cTc	p.P213L	ETV2_uc002oar.2_Missense_Mutation_p.P185L|ETV2_uc002oat.2_Missense_Mutation_p.P92L|ETV2_uc002oau.2_Intron	NM_014209	NP_055024	B9EIN1	B9EIN1_HUMAN	Homo sapiens ets variant 2 (ETV2), mRNA.	185							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			Tggggcgggcccgcgggcccg	0.682000														4			3		0	0	6.4e-05	0	0
MLH3	27030	broad.mit.edu	37	14	75485552	75485552	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:75485552G>A	uc001xrd.1	-	11	4438	c.4222C>T	c.(4222-4224)Cac>Tac	p.H1408Y	MLH3_uc001xre.1_Missense_Mutation_p.H1384Y	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	1408					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TGTTCCAAGTGGTCTATGTCA	0.453000								Mismatch excision repair (MMR)						75			26		0	0	0.0024448	0	0
NOTCH4	4855	broad.mit.edu	37	6	32190494	32190494	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:32190494G>A	uc003obb.3	-	2	384	c.245C>T	c.(244-246)gCc>gTc	p.A82V	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.A82V	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	82	EGF-like 2.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGGAAGCAGGGCTTGGCAGCT	0.637000														434			18		0	0	0.000958276	0	0
F2	2147	broad.mit.edu	37	11	46748337	46748337	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:46748337C>T	uc001ndf.4	+	8	1123	c.1080C>T	c.(1078-1080)atC>atT	p.I360I		NM_000506	NP_000497	P00734	THRB_HUMAN	Homo sapiens coagulation factor II (thrombin) (F2), mRNA.	360					STAT protein import into nucleus|activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|tyrosine phosphorylation of STAT protein	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular space|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	AATCCTACATCGACGGGCGCA	0.587000														78			20		0	0	0.00188189	0	0
NPAS3	64067	broad.mit.edu	37	14	34270275	34270275	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:34270275G>A	uc001wru.3	+	11	2826	c.2762G>A	c.(2761-2763)gGc>gAc	p.G921D	NPAS3_uc001wrs.3_Missense_Mutation_p.G908D|NPAS3_uc001wrv.3_Missense_Mutation_p.G891D|NPAS3_uc001wrt.3_Missense_Mutation_p.G889D	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	921					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TACAGCAACGGCATCCACGCG	0.682000														5			3		0	0	6.4e-05	0	0
HTR3B	9177	broad.mit.edu	37	11	113803757	113803757	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:113803757C>T	uc001pok.3	+	5	776	c.638C>T	c.(637-639)tCc>tTc	p.S213F	HTR3B_uc001pol.3_Missense_Mutation_p.S202F	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	213					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		CTATCTGTGTCCTCCACATAC	0.498000														16			12		0	0	0.00185496	0	0
CD1D	912	broad.mit.edu	37	1	158152832	158152832	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:158152832G>A	uc001frr.3	+	4	1271	c.772G>A	c.(772-774)Gac>Aac	p.D258N	CD1D_uc009wss.3_Intron	NM_001766	NP_001757	P15813	CD1D_HUMAN	Homo sapiens CD1d molecule (CD1D), mRNA.	258	Ig-like.				T cell selection|antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	p.D258D(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GCCCAATGCTGACGAGACATG	0.602000														73			21		0	0	0.00229938	0	0
FNDC1	84624	broad.mit.edu	37	6	159682275	159682275	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:159682275C>T	uc010kjv.3	+	18	5428	c.5228C>T	c.(5227-5229)cCt>cTt	p.P1743L		NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1743	Fibronectin type-III 5.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCTATCAGCCCTTCGGTCTCA	0.348000														71			46		0	0	0.00361006	0	0
OR4A5	81318	broad.mit.edu	37	11	51411637	51411637	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:51411637G>A	uc001nhi.2	-	0	812	c.759C>T	c.(757-759)ttC>ttT	p.F253F		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TAACATATATGAAAATACAGG	0.393000														14			4		0	0	0.00024832	0	0
TAAR6	319100	broad.mit.edu	37	6	132891894	132891895	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:132891894_132891895CC>TT	uc011eck.2	+	0	434_435	c.434_435CC>TT	c.(433-435)acc>aTT	p.T145I		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	Homo sapiens trace amine associated receptor 6 (TAAR6), mRNA.	145						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		ACCAAGTTCACCGTATCTGTGT	0.505000														148			83		0	0	6.4e-05	0	0
RP1L1	94137	broad.mit.edu	37	8	10466429	10466429	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:10466429C>T	uc003wtc.3	-	3	5408	c.5179G>A	c.(5179-5181)Gag>Aag	p.E1727K		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1727					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGCCCTCCCTCAGCTCCCTGG	0.647000														73			21		0	0	0.00152264	0	0
DMTF1	9988	broad.mit.edu	37	7	86824126	86824126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:86824126C>T	uc003uih.3	+	16	2481	c.2155C>T	c.(2155-2157)Cct>Tct	p.P719S	DMTF1_uc003uii.3_Missense_Mutation_p.P453S|DMTF1_uc003uij.3_Missense_Mutation_p.P453S|DMTF1_uc011khb.2_Missense_Mutation_p.P631S|DMTF1_uc003uik.3_Non-coding_Transcript|DMTF1_uc003uil.3_Missense_Mutation_p.P719S|DMTF1_uc003uin.3_Missense_Mutation_p.P453S	NM_001142327	NP_001135798	Q9Y222	DMTF1_HUMAN	Homo sapiens cyclin D binding myb-like transcription factor 1 (DMTF1), transcript variant 2, mRNA.	719	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for transcriptional activation (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					ATCTGTCTTGCCTTTGACAAC	0.323000														9			6		0	0	0.000274275	0	0
KCNK13	56659	broad.mit.edu	37	14	90651153	90651153	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:90651153G>A	uc001xye.1	+	1	1475	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	345						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GCTCTCAGGGGAGATGATCTC	0.617000														59			26		0	0	0.00178596	0	0
KIF19	124602	broad.mit.edu	37	17	72350632	72350632	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:72350632G>A	uc002jkm.4	+	17	2778	c.2640G>A	c.(2638-2640)agG>agA	p.R880R		NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	880					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GCAAGAAAAGGGAGGAGTCGC	0.677000														12			5		0	0	0.00198382	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724050	7724050	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:7724050G>A	uc001aoi.3	+	8	1650	c.1443G>A	c.(1441-1443)atG>atA	p.M481I		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	481					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AAACCACCATGAACTTTGACC	0.592000			T	WWTR1	epitheliod hemangioendothelioma									28			34		0	0	0.00327116	0	0
TRPV6	55503	broad.mit.edu	37	7	142574331	142574331	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:142574331T>A	uc003wbx.2	-	5	821	c.592A>T	c.(592-594)Aca>Tca	p.T198S	TRPV6_uc003wbw.1_5'UTR|TRPV6_uc010lou.1_Missense_Mutation_p.T69S	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	198					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TGTAACACTGTGTTTCCTGGG	0.567000														62			33		0	0	0.00111076	0	0
SYT10	341359	broad.mit.edu	37	12	33592343	33592343	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:33592343G>A	uc001rll.1	-	0	412	c.115C>T	c.(115-117)Cct>Tct	p.P39S	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	39						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.F38F(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CTGTCCCGAGGGAAGATGCCC	0.682000														67			31		0	0	0.00178596	0	0
DOPEY1	23033	broad.mit.edu	37	6	83846981	83846981	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:83846981C>T	uc011dyy.2	+	20	3453	c.3193C>T	c.(3193-3195)Cca>Tca	p.P1065S	DOPEY1_uc003pjs.1_Missense_Mutation_p.P1074S|DOPEY1_uc010kbl.1_Missense_Mutation_p.P1065S|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	1074					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CACTGTGAATCCATTAAGTGA	0.388000														16			5		0	0	0.000602214	0	0
PEX5	5830	broad.mit.edu	37	12	7362674	7362674	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:7362674C>T	uc009zfu.2	+	16	2355	c.1775C>T	c.(1774-1776)cCc>cTc	p.P592L	PEX5_uc001qsw.3_Missense_Mutation_p.P592L|PEX5_uc010sgc.2_Missense_Mutation_p.P607L|PEX5_uc001qsu.3_Missense_Mutation_p.P555L|PEX5_uc010sgd.2_Missense_Mutation_p.P613L|PEX5_uc001qsv.3_Missense_Mutation_p.P584L	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 5, mRNA.	592					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding	p.P584L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						AGCCGGGGCCCCCGGGGTGAA	0.572000														17			9		0	0	0.000442599	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50465242	50465242	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:50465242G>A	uc001vdk.2	+	0	698	c.516G>A	c.(514-516)agG>agA	p.R172R						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		TTTCCAAAAGGATACAGTCTC	0.358000														43			40		0	0	0.00170553	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042694	75042694	+	Silent	SNP	C	T	T	rs17861155	byFrequency	TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:75042694C>T	uc002ayr.1	+	1	679	c.615C>T	c.(613-615)ttC>ttT	p.F205F		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	205			F -> V (in dbSNP:rs45540640).		alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CCATGTGCTTCGGACAGCACT	0.572000														119			68		0	0	0.00361006	0	0
TMEM167B	56900	broad.mit.edu	37	1	109635626	109635627	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:109635626_109635627GG>TT	uc001dwn.3	+	1	217_218	c.125_126GG>TT	c.(124-126)tgg>tTT	p.W42F	TMEM167B_uc009weu.3_Intron	NM_020141	NP_064526	Q9NRX6	KISHB_HUMAN	Homo sapiens transmembrane protein 167B (TMEM167B), mRNA.	42						Golgi membrane|integral to membrane				endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7						AAGGGTGTTTGGGGTGTGTTTT	0.495000														484			12		0	0	6.4e-05	0	0
SVEP1	79987	broad.mit.edu	37	9	113194310	113194310	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:113194310G>A	uc010mtz.3	-	31	5575	c.5238C>T	c.(5236-5238)gtC>gtT	p.V1746V	SVEP1_uc010mty.3_5'Flank	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1746	EGF-like 7; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CACACTCATCGACATCTAAAA	0.363000														23			26		0	0	0.000720815	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56704104	56704104	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:56704104C>T	uc010ygh.2	-	0	318	c.318G>A	c.(316-318)gtG>gtA	p.V106V		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	106	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GCACACCGTTCACCTTGACTA	0.547000														44			18		0	0	0.00332997	0	0
TMEM199	147007	broad.mit.edu	37	17	26685996	26685996	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:26685996T>C	uc010wah.1	+	1	276	c.269T>C	c.(268-270)gTt>gCt	p.V90A	POLDIP2_uc002haz.3_5'Flank|POLDIP2_uc010wag.2_5'Flank|TMEM199_uc002hba.3_Missense_Mutation_p.V90A|MIR4723_uc021ttq.1_5'Flank	NM_152464	NP_689677	Q8N511	TM199_HUMAN	Homo sapiens transmembrane protein 199 (TMEM199), mRNA.	90						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CTCCCAGAGGTTGTGAAGCCT	0.413000														23			22		0	0	0.00278032	0	0
GPR98	84059	broad.mit.edu	37	5	90015894	90015894	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:90015894G>A	uc003kju.3	+	43	9573	c.9477G>A	c.(9475-9477)acG>acA	p.T3159T	GPR98_uc003kjt.3_Silent_p.T865T|GPR98_uc003kjv.3_Silent_p.T759T	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3159	Calx-beta 22.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TATTAGACACGGAACCAGAAA	0.363000														135			20		0	0	0.000878237	0	0
VSIG8	391123	broad.mit.edu	37	1	159827966	159827966	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:159827966T>C	uc001fuh.3	-	2	480	c.344A>G	c.(343-345)aAc>aGc	p.N115S	VSIG8_uc001fug.1_5'Flank	NM_001013661	NP_001013683	Q5VU13	VSIG8_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 8 (VSIG8), mRNA.	115	Ig-like V-type 1.					integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					TACCTGCAGGTTCATGAGGTT	0.557000														51			60		0	0	0.00361006	0	0
ZNF624	57547	broad.mit.edu	37	17	16525964	16525964	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:16525964G>A	uc010cpi.2	-	5	2328	c.2236C>T	c.(2236-2238)Cat>Tat	p.H746Y	ZNF624_uc021tre.1_Missense_Mutation_p.H620Y	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	Homo sapiens zinc finger protein 624 (ZNF624), mRNA.	746					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TCTCCACTATGGATTTTCTGA	0.418000														53			57		0	0	0.00361006	0	0
TSPAN2	10100	broad.mit.edu	37	1	115615584	115615584	+	Silent	SNP	G	A	A	rs150329225		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:115615584G>A	uc001eft.3	-	1	182	c.114C>T	c.(112-114)ttC>ttT	p.F38F	TSPAN2_uc021osc.1_Silent_p.F38F	NM_005725	NP_005716	O60636	TSN2_HUMAN	Homo sapiens tetraspanin 2 (TSPAN2), mRNA.	38						integral to membrane				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		TGGCACCTCCGAACCGAAACC	0.502000														54			28		0	0	0.00327116	0	0
C3orf20	84077	broad.mit.edu	37	3	14814316	14814316	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:14814316G>A	uc003byy.3	+	16	3101	c.2649G>A	c.(2647-2649)gtG>gtA	p.V883V	C3orf20_uc003byz.3_Silent_p.V761V|C3orf20_uc003bza.3_Silent_p.V761V|C3orf20_uc003bzb.1_3'UTR|C3orf20_uc011avj.2_Silent_p.V210V	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	883						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						AGCCTGAAGTGGAGCTACATC	0.587000														22			16		0	0	0.000566183	0	0
CASC5	57082	broad.mit.edu	37	15	40942525	40942525	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:40942525A>T	uc010bbs.1	+	18	6360	c.6199A>T	c.(6199-6201)Aaa>Taa	p.K2067*	CASC5_uc010bbt.1_Nonsense_Mutation_p.K2041*	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	2067	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GGATGAAGAGAAAAACAATCC	0.333000														128			46		0	0	0.00361006	0	0
VPS13B	157680	broad.mit.edu	37	8	100865745	100865745	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:100865745C>T	uc003yiv.3	+	55	10314	c.10203C>T	c.(10201-10203)gaC>gaT	p.D3401D	VPS13B_uc003yiw.3_Silent_p.D3376D	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	3401					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGTTTGATGACCTCACCCACC	0.507000														66			22		0	0	0.00395357	0	0
DNAH8	1769	broad.mit.edu	37	6	38905789	38905789	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:38905789G>A	uc021yzh.1	+	77	11712	c.11603G>A	c.(11602-11604)cGa>cAa	p.R3868Q	DNAH8_uc003ooe.2_Missense_Mutation_p.R3651Q|DNAH8_uc003oog.1_Missense_Mutation_p.R100Q|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGTGTACTTCGAACTACCAAG	0.473000														58			30		0	0	0.00178596	0	0
ABCA4	24	broad.mit.edu	37	1	94526256	94526256	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:94526256G>A	uc001dqh.3	-	13	2101	c.1997C>T	c.(1996-1998)tCt>tTt	p.S666F	ABCA4_uc010otn.1_Missense_Mutation_p.S666F	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	666					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CATGGAGACAGAGTAGATCCA	0.463000														30			9		0	0	0.000274275	0	0
GRIA1	2890	broad.mit.edu	37	5	153085398	153085398	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:153085398C>T	uc011dcy.2	+	10	1651	c.1624C>T	c.(1624-1626)Ctt>Ttt	p.L542F	GRIA1_uc003lva.4_Missense_Mutation_p.L532F|GRIA1_uc003luy.4_Missense_Mutation_p.L532F|GRIA1_uc003luz.4_Missense_Mutation_p.L437F|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.L452F|GRIA1_uc011dcx.2_Missense_Mutation_p.L463F|GRIA1_uc011dcz.2_Missense_Mutation_p.L542F|GRIA1_uc010jia.1_Missense_Mutation_p.L512F	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	532					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTTCTCCTTCCTTGATCCTTT	0.438000														100			21		0	0	0.00278032	0	0
TNN	63923	broad.mit.edu	37	1	175096176	175096176	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:175096176C>T	uc001gkl.1	+	12	3113	c.3000C>T	c.(2998-3000)atC>atT	p.I1000I		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	1000	Fibronectin type-III 9.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTGCTCAGATCCACGGCTACA	0.517000														59			53		0	0	0.00361006	0	0
VPS28	51160	broad.mit.edu	37	8	145652322	145652322	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:145652322G>T	uc003zct.1	-	1	97	c.7C>A	c.(7-9)Cat>Aat	p.H3N	VPS28_uc003zcs.1_Missense_Mutation_p.H3N	NM_183057	NP_898880	Q9UK41	VPS28_HUMAN	Homo sapiens vacuolar protein sorting 28 homolog (S. cerevisiae) (VPS28), transcript variant 2, mRNA.	3					cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GGGATCCCATGAAACATCCTC	0.637000														11			4		3.59834e-05	8.14208e-05	0.00116845	1	0
PCMTD1	115294	broad.mit.edu	37	8	52733157	52733157	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:52733157C>A	uc003xqx.4	-	5	1169	c.828G>T	c.(826-828)agG>agT	p.R276S	PCMTD1_uc011ldm.2_Missense_Mutation_p.R146S|PCMTD1_uc011ldn.2_Missense_Mutation_p.R88S|PCMTD1_uc010lya.3_Missense_Mutation_p.R200S	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 (PCMTD1), mRNA.	276						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TCTTTCTTTTCCTTTTGGGTG	0.408000														180			12		4.93089e-13	1.12478e-12	0.00244969	1	0
PLCB1	23236	broad.mit.edu	37	20	8862293	8862293	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:8862293T>G	uc002wnb.3	+	31	3451	c.3448T>G	c.(3448-3450)Tac>Gac	p.Y1150D	PLCB1_uc002wna.3_3'UTR	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	1150					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GGAGCAAGAATACCAAGACAA	0.458000														86			33		0	0	0.000953801	0	0
OR6N1	128372	broad.mit.edu	37	1	158735659	158735659	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:158735659G>A	uc010piq.2	-	0	814	c.814C>T	c.(814-816)Cag>Tag	p.Q272*		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GCCAGGGCCTGGTCATAGTCC	0.537000														143			27		0	0	0.000878237	0	0
GTF2H1	2965	broad.mit.edu	37	11	18357471	18357471	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:18357471A>G	uc001moi.2	+	3	1019	c.325A>G	c.(325-327)Aaa>Gaa	p.K109E	GTF2H1_uc001moh.2_Missense_Mutation_p.K109E|GTF2H1_uc009yhm.2_Intron	NM_001142307	NP_005307	P32780	TF2H1_HUMAN	Homo sapiens general transcription factor IIH, polypeptide 1, 62kDa (GTF2H1), transcript variant 2, mRNA.	109	BSD 1.				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						GAAAGCAAATAAAGAACTGGA	0.408000								Nucleotide excision repair (NER)						29			7		0	0	0.00307968	0	0
WDR47	22911	broad.mit.edu	37	1	109566060	109566060	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:109566060C>T	uc001dwl.3	-	1	451	c.75G>A	c.(73-75)aaG>aaA	p.K25K	WDR47_uc001dwi.3_Silent_p.K25K|WDR47_uc001dwj.3_Silent_p.K25K|WDR47_uc001dwk.2_Silent_p.K25K	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	25	LisH.									breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TGTGAAGCTTCTTTGAATTCA	0.363000														763			18		0	0	0.00188189	0	0
FSIP1	161835	broad.mit.edu	37	15	39910330	39910330	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:39910330C>T	uc001zki.3	-	10	1523	c.1305G>A	c.(1303-1305)gaG>gaA	p.E435E		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	Homo sapiens fibrous sheath interacting protein 1 (FSIP1), mRNA.	435										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		GTGTTACGTCCTCAATGTCTT	0.383000														52			38		0	0	0.000953801	0	0
OR1N1	138883	broad.mit.edu	37	9	125289540	125289540	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:125289540G>A	uc004bmn.1	-	0	33	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TTCCTCGGAGGAAAAATTCAG	0.473000														7			7		0	0	0.00198382	0	0
TLN1	7094	broad.mit.edu	37	9	35706001	35706001	+	Silent	SNP	G	A	A	rs149087654		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:35706001G>A	uc003zxt.2	-	40	5823	c.5469C>T	c.(5467-5469)gtC>gtT	p.V1823V		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	1823	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGCCACCCACGACCCCAGCAG	0.617000														54			33		0	0	0.00283554	0	0
PTAFR	5724	broad.mit.edu	37	1	28476528	28476528	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:28476528G>A	uc009vte.3	-	2	1340	c.1005C>T	c.(1003-1005)atC>atT	p.I335I	PTAFR_uc021ojz.1_Silent_p.I335I|PTAFR_uc001bpl.3_Silent_p.I335I|PTAFR_uc001bpm.4_Silent_p.I335I|PTAFR_uc021oka.1_Silent_p.I335I	NM_001164721	NP_001158195	P25105	PTAFR_HUMAN	Homo sapiens platelet-activating factor receptor (PTAFR), transcript variant 1, mRNA.	335					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		AATTGCCAGGGATCTGGTTGA	0.527000														113			51		0	0	0.00361006	0	0
TMEM127	55654	broad.mit.edu	37	2	96919674	96919674	+	Missense_Mutation	SNP	G	A	A	rs140860906		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:96919674G>A	uc002svq.3	-	3	865	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	TMEM127_uc002svr.3_Missense_Mutation_p.R197C	NM_017849	NP_060319	O75204	TM127_HUMAN	Homo sapiens transmembrane protein 127 (TMEM127), transcript variant 1, mRNA.	197					negative regulation of TOR signaling cascade|negative regulation of cell proliferation	cytoplasm|integral to membrane|plasma membrane				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GGGTAGTGGCGCAGGAGGTTG	0.592000														38			12		0	0	0.00136819	0	0
SPIC	121599	broad.mit.edu	37	12	101880291	101880291	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:101880291C>T	uc001tid.3	+	5	648	c.489C>T	c.(487-489)acC>acT	p.T163T	SPIC_uc010svp.2_Silent_p.T163T|SPIC_uc009zua.3_Silent_p.T38T|SPIC_uc021rcq.1_Silent_p.T38T	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN	Homo sapiens Spi-C transcription factor (Spi-1/PU.1 related) (SPIC), mRNA.	163						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						ACAGGAAGACCATGACTTACC	0.433000														48			7		0	0	0.00307968	0	0
SLAMF8	56833	broad.mit.edu	37	1	159799816	159799816	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:159799816C>T	uc001fue.4	+	1	411	c.201C>T	c.(199-201)tcC>tcT	p.S67S		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	Homo sapiens SLAM family member 8 (SLAMF8), mRNA.	67						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					TCCGAGGCTCCCTGGAGACTC	0.632000														186			35		0	0	0.00111076	0	0
ASCL1	429	broad.mit.edu	37	12	103352346	103352346	+	Silent	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:103352346T>C	uc001tjr.4	+	0	895	c.324T>C	c.(322-324)ttT>ttC	p.F108F	ASCL1_uc021rcu.1_Silent_p.F108F	NM_004316	NP_004307	P50553	ASCL1_HUMAN	Homo sapiens achaete-scute complex homolog 1 (Drosophila) (ASCL1), mRNA.	108					Notch signaling pathway|cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	E-box binding|bHLH transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			NS(3)|large_intestine(1)|lung(1)	5						TCAGCGGCTTTGGCTACAGCC	0.667000														11			3		0	0	6.4e-05	0	0
OR5AN1	390195	broad.mit.edu	37	11	59131940	59131940	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:59131940G>A	uc010rks.2	+	0	9	c.9G>A	c.(7-9)ggG>ggA	p.G3G		NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AN, member 1 (OR5AN1), mRNA.	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T2I(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						CAATGACTGGGGGAGGAAATA	0.398000														23			6		0	0	0.00116845	0	0
TTN	7273	broad.mit.edu	37	2	179542540	179542540	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:179542540C>T	uc021vsy.1	-	142	30592	c.30367G>A	c.(30367-30369)Gaa>Aaa	p.E10123K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6784K|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11050	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTTCCTCTTCCTCAGGTAGA	0.443000														25			22		0	0	0.00229938	0	0
GABRB1	2560	broad.mit.edu	37	4	47427775	47427775	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:47427775G>A	uc003gxh.3	+	8	1539	c.1165G>A	c.(1165-1167)Gac>Aac	p.D389N	GABRB1_uc011bze.2_Missense_Mutation_p.D319N	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	389					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GAGCGTGAGCGACCCCAAGGC	0.627000														59			19		0	0	0.000958276	0	0
MYOCD	93649	broad.mit.edu	37	17	12639642	12639642	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:12639642G>A	uc002gno.2	+	5	879	c.580G>A	c.(580-582)Ggg>Agg	p.G194R	MYOCD_uc002gnn.2_Missense_Mutation_p.G194R|MYOCD_uc002gnp.1_Missense_Mutation_p.G98R	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	194	HDAC5-binding (By similarity).				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AGGTTCTCTGGGGACAAACCA	0.458000														35			37		0	0	0.00428921	0	0
HCAR3	8843	broad.mit.edu	37	12	123201117	123201117	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:123201117G>A	uc001ucy.4	-	0	323	c.168C>T	c.(166-168)ctC>ctT	p.L56L	HCAR1_uc001ucw.1_Intron	NM_006018	NP_006009	P49019	HCAR3_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 3 (HCAR3), mRNA.	56						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	TCCAGGACTTGAGGTGGAAAC	0.522000														35			5		0	0	0.00116845	0	0
RET	5979	broad.mit.edu	37	10	43623695	43623695	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:43623695T>A	uc001jal.3	+	19	3513	c.3323T>A	c.(3322-3324)tTa>tAa	p.L1108*		NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	1108					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GCGGCAAAATTAATGGACACG	0.428000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					61			6		0	0	0.00116845	0	0
RP1	6101	broad.mit.edu	37	8	55538703	55538703	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:55538703C>T	uc003xsd.1	+	3	2409	c.2261C>T	c.(2260-2262)tCc>tTc	p.S754F	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	754					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCCACGATTTCCAAGAATTTC	0.299000														42			16		0	0	0.00316338	0	0
THBS2	7058	broad.mit.edu	37	6	169648950	169648950	+	Silent	SNP	G	A	A	rs139930955	by1000genomes	TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:169648950G>A	uc003qwt.3	-	3	419	c.171C>T	c.(169-171)ttC>ttT	p.F57F		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	57	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CAAAGCGCACGAAGCGGTAAG	0.592000														32			23		0	0	0.00229938	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41744140	41744140	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:41744140C>T	uc003azw.3	+	14	1951	c.1735C>T	c.(1735-1737)Ctg>Ttg	p.L579L		NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	595					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTGCTCCAACCTGGCTGCCAA	0.602000														80			37		0	0	0.00128727	0	0
KCNH7	90134	broad.mit.edu	37	2	163236489	163236489	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:163236489G>A	uc002uch.2	-	13	3234	c.3005C>T	c.(3004-3006)cCc>cTc	p.P1002L		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	1002					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.P1002P(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TTCAGGCTGGGGATGTGCATT	0.493000														46			35		0	0	0.00111076	0	0
CUX1	1523	broad.mit.edu	37	7	101840399	101840399	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:101840399G>A	uc003uys.4	+	14	1868	c.1741G>A	c.(1741-1743)Gga>Aga	p.G581R	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.G570R	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	570					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G580*(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GCACAATATCGGACAACGTAT	0.542000														108			46		0	0	0.00361006	0	0
CDHR3	222256	broad.mit.edu	37	7	105624729	105624729	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:105624729C>T	uc003vdl.4	+	3	615	c.507C>T	c.(505-507)ccC>ccT	p.P169P	CDHR3_uc003vdk.3_5'UTR|CDHR3_uc011kls.1_Intron|CDHR3_uc003vdm.4_Silent_p.P156P|CDHR3_uc011klt.2_Silent_p.P81P	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.	169	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GAAACATTCCCCTCAGTGTAA	0.502000														20			9		0	0	0.000274275	0	0
IL37	27178	broad.mit.edu	37	2	113676334	113676334	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:113676334C>T	uc002tij.3	+	4	647	c.605C>T	c.(604-606)tCa>tTa	p.S202L	IL37_uc002tim.3_Missense_Mutation_p.S141L|IL37_uc002tik.3_Missense_Mutation_p.S181L|IL37_uc002til.3_Missense_Mutation_p.S162L|IL37_uc002tin.3_Missense_Mutation_p.S176L	NM_014439	NP_055254	Q9NZH6	IL37_HUMAN	Homo sapiens interleukin 37 (IL37), transcript variant 1, mRNA.	202					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						ATTGAATTTTCATTTCAACCA	0.458000														20			20		0	0	0.00188189	0	0
ATXN1	6310	broad.mit.edu	37	6	16328278	16328278	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:16328278G>A	uc003nbt.3	-	7	1235	c.264C>T	c.(262-264)tcC>tcT	p.S88S	ATXN1_uc010jpi.3_Silent_p.S88S|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	88					RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CGCTGGGCGGGGAGTAGTCCA	0.677000														53			34		0	0	0.00375469	0	0
CCR6	1235	broad.mit.edu	37	6	167549829	167549829	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:167549829C>T	uc003qvl.3	+	12	2587	c.111C>T	c.(109-111)tcC>tcT	p.S37S	CCR6_uc010kkm.3_Silent_p.S37S|CCR6_uc003qvn.4_Silent_p.S37S|CCR6_uc003qvm.4_Silent_p.S37S	NM_031409	NP_113597	P51684	CCR6_HUMAN	Homo sapiens chemokine (C-C motif) receptor 6 (CCR6), transcript variant 2, mRNA.	37					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		TACTGTGCTCCTTGCAGGAGG	0.433000														93			35		0	0	0.00428921	0	0
SLC22A8	9376	broad.mit.edu	37	11	62763570	62763570	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:62763570G>A	uc009yon.3	-	5	937	c.816C>T	c.(814-816)gcC>gcT	p.A272A	SLC22A8_uc001nwn.1_Silent_p.A63A|SLC22A8_uc009yom.3_Silent_p.A149A|SLC22A8_uc001nwo.3_Silent_p.A272A|SLC22A8_uc010rmm.2_Silent_p.A181A|SLC22A8_uc001nwp.2_Silent_p.A272A	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	272					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						GTATCTTCAGGGCCTTCGAGG	0.587000														37			35		0	0	0.000953801	0	0
UNC79	57578	broad.mit.edu	37	14	94046668	94046668	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:94046668G>A	uc001ybv.1	+	15	2159	c.2076G>A	c.(2074-2076)caG>caA	p.Q692Q	UNC79_uc001ybs.1_Silent_p.Q692Q	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	869						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCTGCTATCAGCTTGCTTGTG	0.478000														54			21		0	0	0.00278032	0	0
RP1	6101	broad.mit.edu	37	8	55537893	55537893	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:55537893C>T	uc003xsd.1	+	3	1599	c.1451C>T	c.(1450-1452)tCa>tTa	p.S484L	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	484					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGACAGTTTTCATATAGTGAA	0.373000														38			6		0	0	0.00116845	0	0
TFAP2A	7020	broad.mit.edu	37	6	10419659	10419659	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:10419659C>A	uc003myt.3	-	0	139	c.25G>T	c.(25-27)Gac>Tac	p.D9Y	TFAP2A_uc011dii.1_Missense_Mutation_p.D9Y	NM_001042425	NP_001035890	P05549	AP2A_HUMAN	Homo sapiens transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) (TFAP2A), transcript variant 3, mRNA.	13					ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Golgi apparatus|centrosome|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				ACCTGCCAGTCCCCCATTTTG	0.697000														33			28		2.20262e-25	5.05854e-25	0.00283554	1	0
OR2T11	127077	broad.mit.edu	37	1	248789505	248789505	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:248789505G>A	uc001ier.1	-	0	925	c.925C>T	c.(925-927)Cag>Tag	p.Q309*		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.	309			Q -> R (in dbSNP:rs1892442).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTACTTTCTGAGCAGATGAG	0.463000														74			20		0	0	0.00229938	0	0
MCM10	55388	broad.mit.edu	37	10	13224992	13224992	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:13224992C>T	uc001ima.3	+	7	1121	c.993C>T	c.(991-993)tcC>tcT	p.S331S	MCM10_uc001imb.3_Silent_p.S330S|MCM10_uc001imc.3_Silent_p.S330S	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA.	331					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AATGTGTGTCCTTGTTCTTAT	0.433000														40			8		0	0	0.00307968	0	0
OR4X1	390113	broad.mit.edu	37	11	48285459	48285459	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:48285459C>T	uc010rht.2	+	0	47	c.47C>T	c.(46-48)tCc>tTc	p.S16F		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GTGGGATTTTCCCAGAATTGG	0.453000														27			25		0	0	0.000720815	0	0
TRMT1	55621	broad.mit.edu	37	19	13226254	13226254	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:13226254C>T	uc002mwj.2	-	3	730	c.480G>A	c.(478-480)ctG>ctA	p.L160L	NACC1_uc002mwm.3_5'Flank|TRMT1_uc002mwk.2_Silent_p.L160L|TRMT1_uc002mwl.3_Silent_p.L160L|TRMT1_uc010xmz.1_5'UTR	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	Homo sapiens TRM1 tRNA methyltransferase 1 homolog (S. cerevisiae) (TRMT1), transcript variant 1, mRNA.	160							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CTGAAGCTGCCAGGCCTTCCA	0.582000														19			8		0	0	0.00307968	0	0
OR6C68	403284	broad.mit.edu	37	12	55886345	55886345	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:55886345C>T	uc010spo.2	+	0	199	c.199C>T	c.(199-201)Caa>Taa	p.Q67*		NM_001005519	NP_001005519	A6NDL8	O6C68_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 68 (OR6C68), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						TTTTTTTCTCCAAAATTTATC	0.363000														79			17		0	0	0.00074312	0	0
ANLN	54443	broad.mit.edu	37	7	36455450	36455450	+	Silent	SNP	C	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:36455450C>A	uc003tff.3	+	7	1683	c.1479C>A	c.(1477-1479)acC>acA	p.T493T	ANLN_uc011kaz.2_Silent_p.T405T|ANLN_uc003tfg.3_Silent_p.T493T|ANLN_uc010kxe.3_Silent_p.T493T	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	493	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AAAAGGTGACCGAAAACCAGA	0.398000														142			6		0.00198382	0.00447486	0.00198382	1	0
LILRA1	11024	broad.mit.edu	37	19	55107847	55107847	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:55107847G>A	uc002qgh.1	+	6	1334	c.1152G>A	c.(1150-1152)atG>atA	p.M384I	LILRA1_uc010yfg.1_Missense_Mutation_p.M382I|LILRA1_uc010yfh.2_Missense_Mutation_p.M384I	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	384	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		AATTCCCTATGAGTCCTGTGA	0.572000														61			43		0	0	0.00321405	0	0
CACNB2	783	broad.mit.edu	37	10	18828250	18828250	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:18828250A>C	uc001ipr.2	+	13	1640	c.1580A>C	c.(1579-1581)aAa>aCa	p.K527T	CACNB2_uc001ipt.2_Missense_Mutation_p.K489T|CACNB2_uc009xjz.1_Missense_Mutation_p.K277T|CACNB2_uc001ips.2_Missense_Mutation_p.K503T|CACNB2_uc001ipu.3_Missense_Mutation_p.K499T|CACNB2_uc001ipv.3_Missense_Mutation_p.K475T|CACNB2_uc009xka.2_Missense_Mutation_p.K461T|CACNB2_uc001ipw.2_Missense_Mutation_p.K434T|CACNB2_uc001ipx.2_Missense_Mutation_p.K472T|CACNB2_uc001ipz.2_Missense_Mutation_p.K449T|CACNB2_uc001ipy.2_Missense_Mutation_p.K473T|CACNB2_uc010qco.1_Missense_Mutation_p.K441T|CACNB2_uc001iqa.2_Missense_Mutation_p.K479T|NSUN6_uc001iqb.3_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	527					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCAGTCAAGAAATCCCAGCAC	0.567000														31			8		0	0	0.000673444	0	0
MMP15	4324	broad.mit.edu	37	16	58079018	58079018	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:58079018C>T	uc002ena.3	+	9	2651	c.1678C>T	c.(1678-1680)Cag>Tag	p.Q560*		NM_002428	NP_002419	P51511	MMP15_HUMAN	Homo sapiens matrix metallopeptidase 15 (membrane-inserted) (MMP15), mRNA.	560					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						CATGGGCTGCCAGGAGCACGT	0.672000														6			5		0	0	0.000602214	0	0
PDGFRL	5157	broad.mit.edu	37	8	17447010	17447010	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:17447010C>T	uc003wxr.3	+	2	534	c.89C>T	c.(88-90)cCa>cTa	p.P30L		NM_006207	NP_006198	Q15198	PGFRL_HUMAN	Homo sapiens platelet-derived growth factor receptor-like (PDGFRL), mRNA.	30						extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		AACAAGCGTCCAAAAGAACCA	0.423000														93			50		0	0	0.00361006	0	0
TSPAN16	26526	broad.mit.edu	37	19	11411966	11411966	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:11411966G>A	uc002mqv.1	+	3	582	c.432G>A	c.(430-432)tgG>tgA	p.W144*	TSPAN16_uc002mqu.1_Non-coding_Transcript|AF161365_uc002mqw.1_Intron	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN	Homo sapiens tetraspanin 16 (TSPAN16), mRNA.	144						integral to membrane				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						CTACACAGTGGAACTTGGTCA	0.473000														36			26		0	0	0.00127121	0	0
PLA2G12B	84647	broad.mit.edu	37	10	74714432	74714432	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:74714432G>A	uc001jtf.1	-	0	79	c.12C>T	c.(10-12)gcC>gcT	p.A4A	PLA2G12B_uc009xqt.1_5'UTR|PLA2G12B_uc010qjz.1_Silent_p.A4A	NM_032562	NP_115951	Q9BX93	PG12B_HUMAN	Homo sapiens phospholipase A2, group XIIB (PLA2G12B), mRNA.	4					lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					AGAAGCCACTGGCCAGCTTCA	0.602000														30			13		0	0	0.00244969	0	0
SUN1	23353	broad.mit.edu	37	7	895996	895996	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:895996C>T	uc021zym.1	+	12	1371	c.1351_splice	c.e12-1	p.A451_splice	GET4_uc003sjj.1_Splice_Site|SUN1_uc011jvq.2_Splice_Site_p.A348_splice|SUN1_uc003sjf.3_Splice_Site_p.A368_splice|SUN1_uc003sjg.3_Splice_Site_p.A356_splice|SUN1_uc011jvr.2_Splice_Site_p.A249_splice|SUN1_uc003sji.3_Splice_Site_p.A289_splice|SUN1_uc003sjk.3_Splice_Site_p.A90_splice	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 1 (SUN1), transcript variant 1, mRNA.	478					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear inner membrane	protein binding	p.A368V(1)|p.A451V(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACTTTTTAGGCCATCCAGAAG	0.348000														55			20		0	0	0.00188189	0	0
HDAC6	10013	broad.mit.edu	37	X	48681152	48681152	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:48681152C>T	uc011mmi.1	+	23	2555	c.2460C>T	c.(2458-2460)atC>atT	p.I820I	HDAC6_uc004dks.1_Silent_p.I820I|HDAC6_uc010nig.1_Silent_p.I668I|HDAC6_uc004dkt.1_Silent_p.I820I|HDAC6_uc011mmk.1_Silent_p.I801I|HDAC6_uc004dkv.1_Silent_p.I468I|HDAC6_uc004dkw.1_Silent_p.I468I|HDAC6_uc004dkx.1_Silent_p.I183I	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	Homo sapiens histone deacetylase 6 (HDAC6), mRNA.	820					Hsp90 deacetylation|aggresome assembly|cellular response to hydrogen peroxide|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	Hsp90 protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|microtubule binding|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TGGCCTCAATCACTGAGACCA	0.627000														9			20		0	0	0.00121646	0	0
BEGAIN	57596	broad.mit.edu	37	14	101004369	101004369	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:101004369G>A	uc010txa.2	-	5	1865	c.1719C>T	c.(1717-1719)ggC>ggT	p.G573G	BEGAIN_uc001yhp.3_Silent_p.G509G|BEGAIN_uc001yhq.3_Silent_p.G573G	NM_001159531	NP_065887	Q9BUH8	BEGIN_HUMAN	Homo sapiens brain-enriched guanylate kinase-associated homolog (rat) (BEGAIN), transcript variant 1, mRNA.	573						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				TCAGCCCCGAGCCACCAGTCC	0.687000														5			6		0	0	0.00198382	0	0
POLQ	10721	broad.mit.edu	37	3	121215716	121215716	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:121215716C>T	uc003eee.4	-	13	2346	c.2217G>A	c.(2215-2217)caG>caA	p.Q739Q		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	739					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ATCCATATTTCTGATTTATTT	0.368000								DNA polymerases (catalytic subunits)						64			34		0	0	0.00283554	0	0
PCYT2	5833	broad.mit.edu	37	17	79864690	79864690	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:79864690C>T	uc002kcf.2	-	6	731	c.622G>A	c.(622-624)Gag>Aag	p.E208K	PCYT2_uc010wvb.2_Missense_Mutation_p.E176K|PCYT2_uc002kce.2_Missense_Mutation_p.E130K|PCYT2_uc002kch.2_Missense_Mutation_p.E226K|PCYT2_uc002kci.2_Missense_Mutation_p.E167K|PCYT2_uc010wvc.2_Missense_Mutation_p.E130K	NM_002861	NP_002852	Q99447	PCY2_HUMAN	Homo sapiens phosphate cytidylyltransferase 2, ethanolamine (PCYT2), transcript variant 2, mRNA.	208	Catalytic 1 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GGCTGGGGCTCCTTCCCAGAA	0.597000														42			19		0	0	0.000958276	0	0
ZNF91	7644	broad.mit.edu	37	19	23542804	23542804	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:23542804G>A	uc002nre.3	-	3	3090	c.2977C>T	c.(2977-2979)Ccc>Tcc	p.P993S	ZNF91_uc002nrd.3_5'Flank|ZNF91_uc010xrj.2_Missense_Mutation_p.P961S	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	993						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CATTTGTAGGGTTTCTCTCCA	0.388000														52			6		0	0	0.00116845	0	0
RHBDF2	79651	broad.mit.edu	37	17	74470605	74470605	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:74470605G>A	uc002jrq.2	-	11	1695	c.1401C>T	c.(1399-1401)atC>atT	p.I467I	RHBDF2_uc021udh.1_Silent_p.I438I|RHBDF2_uc002jrr.1_Silent_p.I319I|RHBDF2_uc010wtf.1_3'UTR	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN	Homo sapiens rhomboid 5 homolog 2 (Drosophila) (RHBDF2), transcript variant 1, mRNA.	467					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						CCCCCAGGTGGATCAGGTCAA	0.642000														51			26		0	0	0.00178596	0	0
JAGN1	84522	broad.mit.edu	37	3	9934917	9934917	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:9934917C>T	uc003btt.4	+	1	544	c.408C>T	c.(406-408)taC>taT	p.Y136Y	CIDEC_uc003bto.3_Intron	NM_032492	NP_115881	Q8N5M9	JAGN1_HUMAN	Homo sapiens jagunal homolog 1 (Drosophila) (JAGN1), mRNA.	136						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1)	10	Medulloblastoma(99;0.227)					GCAAGGCCTACCGTTTCCTCT	0.522000														68			39		0	0	0.00285205	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65349981	65349981	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:65349981G>A	uc003juk.2	+	20	3145	c.2835G>A	c.(2833-2835)aaG>aaA	p.K945K	ERBB2IP_uc011cqx.2_Silent_p.K945K|ERBB2IP_uc003jui.2_Silent_p.K945K|ERBB2IP_uc003jul.2_Silent_p.K941K|ERBB2IP_uc011cqy.2_Silent_p.K945K|ERBB2IP_uc003juj.2_Silent_p.K945K|ERBB2IP_uc011cqz.2_Intron|ERBB2IP_uc010iwx.2_Silent_p.K941K	NM_001253697	NP_001240626	Q96RT1	LAP2_HUMAN	Homo sapiens erbb2 interacting protein (ERBB2IP), transcript variant 1, mRNA.	945					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CAATTTTCAAGTTTGATTCAA	0.398000														28			20		0	0	0.000958276	0	0
YBEY	54059	broad.mit.edu	37	21	47711284	47711284	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:47711284C>T	uc002ziv.3	+	2	676	c.247C>T	c.(247-249)Cca>Tca	p.P83S	YBEY_uc002zit.1_Missense_Mutation_p.P83S|YBEY_uc002ziu.1_Missense_Mutation_p.P83S|YBEY_uc010gqh.3_Intron|YBEY_uc002ziw.3_Missense_Mutation_p.P38S|YBEY_uc002zix.3_Missense_Mutation_p.P83S|YBEY_uc002ziy.3_Intron	NM_058181	NP_478061	P58557	YBEY_HUMAN	Homo sapiens ybeY metallopeptidase (putative) (YBEY), transcript variant 1, mRNA.	83							metal ion binding|metalloendopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)	9						GCCTGATTTTCCAGATGACTA	0.413000														37			10		0	0	0.000978159	0	0
ELOVL1	64834	broad.mit.edu	37	1	43830265	43830265	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:43830265G>A	uc001cjb.3	-	5	557	c.429C>T	c.(427-429)ttC>ttT	p.F143F	ELOVL1_uc001cjc.3_Intron|ELOVL1_uc010okh.2_Silent_p.F116F	NM_022821	NP_073732	Q9BW60	ELOV1_HUMAN	Homo sapiens ELOVL fatty acid elongase 1 (ELOVL1), transcript variant 1, mRNA.	143					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CAGAGTGATGGAAGACATGTA	0.557000														78			19		0	0	0.00121646	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64627543	64627543	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:64627543G>A	uc003dmg.3	-	11	1869	c.1837C>T	c.(1837-1839)Cga>Tga	p.R613*	ADAMTS9_uc011bfo.2_Nonsense_Mutation_p.R585*|ADAMTS9_uc003dmh.1_Nonsense_Mutation_p.R442*|ADAMTS9_uc003dmk.1_Nonsense_Mutation_p.R613*	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	613	TSP type-1 1.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTGCACTCTCGAATGGCTGTT	0.473000														321			151		0	0	0.00361006	0	0
DNAH5	1767	broad.mit.edu	37	5	13811768	13811768	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:13811768C>T	uc003jfd.2	-	43	7437	c.7395G>A	c.(7393-7395)ctG>ctA	p.L2465L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2465					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCAGAGGAATCAGGCCTTGAA	0.403000									Kartagener syndrome					48			6		0	0	0.00198382	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43939477	43939477	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:43939477C>T	uc010yny.2	+	14	2498	c.2415C>T	c.(2413-2415)tcC>tcT	p.S805S	PLEKHH2_uc002rte.3_3'UTR|PLEKHH2_uc002rtf.3_Silent_p.S804S	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	805						cytoplasm|cytoskeleton|integral to membrane	binding	p.S805F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACCCACTTTCCCTGCAGCCTG	0.483000														300			68		0	0	0.00361006	0	0
EPHB6	2051	broad.mit.edu	37	7	142563955	142563955	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:142563955G>C	uc011kst.2	+	8	2130	c.1343G>C	c.(1342-1344)gGg>gCg	p.G448A	EPHB6_uc011ksu.2_Missense_Mutation_p.G448A|EPHB6_uc003wbs.3_Missense_Mutation_p.G156A|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_Missense_Mutation_p.G156A|EPHB6_uc003wbv.3_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	448	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GTGTTAGTGGGGGGACTCCGG	0.617000														26			5		0	0	0.000442599	0	0
RGS22	26166	broad.mit.edu	37	8	101075804	101075805	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:101075804_101075805CC>TT	uc003yjb.1	-	7	1386_1387	c.1191_1192GG>AA	c.(1189-1194)agggcg>agAAcg	p.A398T	RGS22_uc003yja.1_Missense_Mutation_p.A217T|RGS22_uc003yjc.1_Missense_Mutation_p.A386T|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Missense_Mutation_p.A302T	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	398					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CACCAGTCCGCCCTGCTCTCTG	0.361000														68			25		0	0	6.4e-05	0	0
DDX17	10521	broad.mit.edu	37	22	38889753	38889753	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:38889753C>T	uc003avy.4	-	9	1452	c.1349G>A	c.(1348-1350)gGa>gAa	p.G450E	DDX17_uc003avx.4_Missense_Mutation_p.G450E|DDX17_uc011anu.2_Missense_Mutation_p.G363E	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	371	Helicase C-terminal.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					ACTCTTGTCTCCATGGATACA	0.368000														42			24		0	0	0.00395357	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24533825	24533825	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:24533825C>T	uc003nef.3	+	10	1560	c.1532C>T	c.(1531-1533)tCc>tTc	p.S511F	ALDH5A1_uc003neg.3_Missense_Mutation_p.S498F	NM_170740	NP_733936	P51649	SSDH_HUMAN	Homo sapiens aldehyde dehydrogenase 5 family, member A1 (ALDH5A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	498					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	GGATTAATTTCCTCTGTGGAG	0.517000														117			36		0	0	0.00148497	0	0
C1orf106	55765	broad.mit.edu	37	1	200869303	200869303	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:200869303G>A	uc001gvo.3	+	3	549	c.507G>A	c.(505-507)agG>agA	p.R169R	C1orf106_uc010ppm.2_Silent_p.R84R	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	169										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						TTCGCCGCAGGATCGGAGCGG	0.607000														23			27		0	0	0.00178596	0	0
CTNNA2	1496	broad.mit.edu	37	2	80085165	80085165	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:80085165G>A	uc010ysh.2	+	2	330	c.325G>A	c.(325-327)Gag>Aag	p.E109K	CTNNA2_uc010yse.2_Missense_Mutation_p.E109K|CTNNA2_uc010ysf.2_Missense_Mutation_p.E109K|CTNNA2_uc010ysg.2_Missense_Mutation_p.E109K	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	109					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CGCCTCCTCCGAGTTTGCAGA	0.582000														60			37		0	0	0.00222228	0	0
MSTN	2660	broad.mit.edu	37	2	190922147	190922147	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:190922147G>A	uc002urp.3	-	2	1098	c.965C>T	c.(964-966)cCt>cTt	p.P322L		NM_005259	NP_005250	O14793	GDF8_HUMAN	Homo sapiens myostatin (MSTN), mRNA.	322					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.P322L(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			ATGAGTATGAGGATATTTTTG	0.393000														8			9		0	0	0.000673444	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118572	118572	+	RNA	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrGL000205.1:118572G>A	uc002kgk.4	+	0		c.1950G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GGCCTTTTTAGCTGATTCCGG	0.398000														16			5		0	0	0.000602214	0	0
PCBP3	54039	broad.mit.edu	37	21	47359972	47359972	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:47359972G>A	uc002zhq.2	+	12	1063	c.938G>A	c.(937-939)gGg>gAg	p.G313E	PCBP3_uc002zhp.2_Missense_Mutation_p.G293E|PCBP3_uc002zhs.2_Missense_Mutation_p.G287E|PCBP3_uc002zht.2_Missense_Mutation_p.G303E	NM_020528	NP_065389	P57721	PCBP3_HUMAN	Homo sapiens poly(rC) binding protein 3 (PCBP3), transcript variant 1, mRNA.	313	KH 3.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	p.T312T(1)		biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		GGACGCCAAGGGACCAAAATC	0.537000														46			12		0	0	0.00185496	0	0
OR56B1	387748	broad.mit.edu	37	11	5757809	5757809	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:5757809C>T	uc001mbt.2	+	0	132	c.63C>T	c.(61-63)ttC>ttT	p.F21F	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|OR56B1_uc001mbs.1_Silent_p.F21F|OR56B1_uc009yev.1_Silent_p.F21F	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		TCTCTGAGTTCATCCTGCTGG	0.453000														21			13		0	0	0.00136819	0	0
RYR1	6261	broad.mit.edu	37	19	38966003	38966003	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:38966003G>A	uc002oit.3	+	28	4336	c.4206G>A	c.(4204-4206)ccG>ccA	p.P1402P	RYR1_uc002oiu.3_Silent_p.P1402P	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1402	6 X approximate repeats.|B30.2/SPRY 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|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			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCAGCCACCGGCCACCCCCA	0.622000														3			3		0	0	6.4e-05	0	0
CSF2RA	1438	broad.mit.edu	37	X	1424358	1424358	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:1424358C>T	uc010nct.2	+	12	1385	c.1063C>T	c.(1063-1065)Ctg>Ttg	p.L355L	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Silent_p.L355L|CSF2RA_uc004cpq.2_Silent_p.G222G|CSF2RA_uc004cpn.2_Silent_p.L355L|CSF2RA_uc004cpo.2_Silent_p.L355L|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Silent_p.L222L|CSF2RA_uc004cpp.2_Intron|CSF2RA_uc010ncv.2_Silent_p.L389L|CSF2RA_uc004cpr.2_Silent_p.G322G	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	355						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GATACAGCGGCTGTTCCCGCC	0.537000														78			40		0	0	0.00195071	0	0
IFIT2	3433	broad.mit.edu	37	10	91065834	91065834	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:91065834C>T	uc009xts.3	+	1	296	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|BC040833_uc001kgd.3_Intron	NM_001547	NP_001538	P09913	IFIT2_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 2 (IFIT2), mRNA.	41					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				AGTATTTTACCGGACTGAGTT	0.453000														33			10		0	0	0.000673444	0	0
CAPN12	147968	broad.mit.edu	37	19	39230812	39230812	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:39230812G>A	uc002ojd.1	-	4	917	c.608C>T	c.(607-609)gCt>gTt	p.A203V		NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	Homo sapiens calpain 12 (CAPN12), mRNA.	203	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			ATCCACAAAAGCCTCATTCAT	0.607000														13			5		0	0	0.000602214	0	0
OR2A12	346525	broad.mit.edu	37	7	143793115	143793115	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:143793115G>A	uc011kty.2	+	0	915	c.915G>A	c.(913-915)tgG>tgA	p.W305*		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GAGTCCTTTGGAAACAGAGAT	0.423000														121			63		0	0	0.00361006	0	0
FRG2B	441581	broad.mit.edu	37	10	135440150	135440150	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:135440150C>T	uc010qvg.2	-	0	150	c.97G>A	c.(97-99)Ggc>Agc	p.G33S		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA.	33						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TCATCTGAGCCCTTTTCTGTA	0.507000														100			7		0	0	0.000673444	0	0
DPPA5	340168	broad.mit.edu	37	6	74063871	74063871	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:74063871G>T	uc003pgs.2	-	0	129	c.78C>A	c.(76-78)ttC>ttA	p.F26L		NM_001025290	NP_001020461	A6NC42	DPPA5_HUMAN	Homo sapiens developmental pluripotency associated 5 (DPPA5), mRNA.	26	KH; atypical.				multicellular organismal development	cytoplasm	RNA binding	p.F26I(1)		NS(1)|endometrium(1)|lung(5)	7						TCTGGACCTGGAACACCTCTG	0.602000														35			14		3.41278e-10	7.75688e-10	0.000566183	1	0
ALOX15	246	broad.mit.edu	37	17	4540538	4540538	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:4540538C>T	uc002fyh.3	-	6	848	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	ALOX15_uc010vsd.2_Missense_Mutation_p.E236K|ALOX15_uc010vse.2_Missense_Mutation_p.E297K	NM_001140	NP_001131	P16050	LOX15_HUMAN	Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA.	275	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	AAGTCAGCTTCGAACAGTGTG	0.547000														17			19		0	0	0.00152264	0	0
SH3RF2	153769	broad.mit.edu	37	5	145439545	145439545	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:145439545G>A	uc003lnt.3	+	8	1910	c.1672G>A	c.(1672-1674)Ggg>Agg	p.G558R	SH3RF2_uc011dbl.1_Missense_Mutation_p.G558R|SH3RF2_uc011dbm.1_Missense_Mutation_p.G43R|SH3RF2_uc003lnu.3_Missense_Mutation_p.G49R|SH3RF2_uc011dbn.1_Missense_Mutation_p.G49R|SH3RF2_uc011dbo.2_Missense_Mutation_p.G15R	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	558							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGCCACAGGGGATCCCCTC	0.672000														41			12		0	0	0.00185496	0	0
CACNA1C	775	broad.mit.edu	37	12	2719789	2719789	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:2719789A>G	uc009zdu.1	+	28	4014	c.3701A>G	c.(3700-3702)tAc>tGc	p.Y1234C	CACNA1C_uc001qkc.2_Missense_Mutation_p.Y1214C|CACNA1C_uc001qjz.2_Missense_Mutation_p.Y1214C|CACNA1C_uc001qkd.2_Missense_Mutation_p.Y1214C|CACNA1C_uc001qke.2_Missense_Mutation_p.Y1214C|CACNA1C_uc001qkf.2_Missense_Mutation_p.Y1214C|CACNA1C_uc009zdw.1_Missense_Mutation_p.Y1214C|CACNA1C_uc001qkg.2_Missense_Mutation_p.Y1214C|CACNA1C_uc001qkh.2_Missense_Mutation_p.Y1214C|CACNA1C_uc001qkl.2_Missense_Mutation_p.Y1234C|CACNA1C_uc001qkj.2_Missense_Mutation_p.Y1214C|CACNA1C_uc001qkk.2_Missense_Mutation_p.Y1214C|CACNA1C_uc001qkn.2_Missense_Mutation_p.Y1214C|CACNA1C_uc001qkm.2_Missense_Mutation_p.Y1214C|CACNA1C_uc001qko.2_Missense_Mutation_p.Y1234C|CACNA1C_uc001qkp.2_Missense_Mutation_p.Y1214C|CACNA1C_uc001qkq.2_Missense_Mutation_p.Y1214C|CACNA1C_uc001qku.2_Missense_Mutation_p.Y1214C|CACNA1C_uc001qkr.2_Missense_Mutation_p.Y1214C|CACNA1C_uc001qks.2_Missense_Mutation_p.Y1214C|CACNA1C_uc001qkt.2_Missense_Mutation_p.Y1214C|CACNA1C_uc009zdv.1_Missense_Mutation_p.Y1211C|CACNA1C_uc001qkb.2_Missense_Mutation_p.Y1214C|CACNA1C_uc001qka.1_Missense_Mutation_p.Y749C|CACNA1C_uc001qki.1_Missense_Mutation_p.Y950C	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1234					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AAAGTGTGGTACGTGGTCAAC	0.602000														39			16		0	0	0.00400662	0	0
CASS4	57091	broad.mit.edu	37	20	55027872	55027872	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:55027872T>C	uc002xxp.2	+	5	1865	c.1640T>C	c.(1639-1641)cTt>cCt	p.L547P	CASS4_uc002xxq.4_Missense_Mutation_p.L547P|CASS4_uc010zze.1_Missense_Mutation_p.L493P|CASS4_uc002xxr.2_Missense_Mutation_p.L547P|CASS4_uc010gio.2_Intron	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	547					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CTGGAAGTTCTTGTGACTGAC	0.493000														55			33		0	0	0.000953801	0	0
DNAH3	55567	broad.mit.edu	37	16	21061243	21061243	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:21061243G>A	uc010vbe.2	-	29	4335	c.4335C>T	c.(4333-4335)gcC>gcT	p.A1445A		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1445	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCTTAGCCAAGGCTTTGGCCA	0.532000														100			41		0	0	0.00285205	0	0
OSBPL10	114884	broad.mit.edu	37	3	31712392	31712392	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:31712392A>T	uc021wuu.1	-	8	2481	c.1810T>A	c.(1810-1812)Tgg>Agg	p.W604R	OSBPL10_uc003ceu.1_Missense_Mutation_p.W361R|OSBPL10_uc011axf.2_Missense_Mutation_p.W540R	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	604					lipid transport		lipid binding	p.P603L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		AGCTCCACCCACGGGATGGTG	0.562000														52			29		0	0	0.00283554	0	0
ZNF407	55628	broad.mit.edu	37	18	72589239	72589239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr18:72589239C>T	uc002llw.2	+	3	5017	c.4964C>T	c.(4963-4965)cCg>cTg	p.P1655L	ZNF407_uc010dqu.2_Missense_Mutation_p.P1655L	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1655					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P1655P(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGAGAAAAGCCGTTTAAATGT	0.507000														35			28		0	0	0.000878237	0	0
SBF1	6305	broad.mit.edu	37	22	50901026	50901026	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:50901026G>A	uc003blh.3	-	17	2284	c.2089C>T	c.(2089-2091)Ctc>Ttc	p.L697F	SBF1_uc011arx.2_Missense_Mutation_p.L361F|SBF1_uc003bli.2_Missense_Mutation_p.L698F	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	697					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		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;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TCCAGGTAGAGGGCCCGGATG	0.687000														7			10		0	0	0.000673444	0	0
TLK2	11011	broad.mit.edu	37	17	60689856	60689856	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:60689856C>T	uc010ddp.3	+	22	2517	c.2249C>T	c.(2248-2250)tCt>tTt	p.S750F	TLK2_uc002izx.4_Missense_Mutation_p.S576F|TLK2_uc002izz.4_Missense_Mutation_p.S728F|TLK2_uc002jaa.4_Missense_Mutation_p.S696F|TLK2_uc010wpd.2_Missense_Mutation_p.S696F	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	Homo sapiens tousled-like kinase 2 (TLK2), transcript variant A, mRNA.	750					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						AAGTCAGTCTCTACAAGTAGC	0.502000														55			31		0	0	0.001512	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140746159	140746159	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140746159C>T	uc003lju.2	+	0	2262	c.2262C>T	c.(2260-2262)tcC>tcT	p.S754S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Silent_p.S754S	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	760					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D754D(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACCTATTCCCACGAGGTCT	0.597000														94			20		0	0	0.00121646	0	0
TTLL6	284076	broad.mit.edu	37	17	46863623	46863624	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:46863623_46863624CC>AA	uc021tzm.1	-	11	1698_1699	c.1663_1664GG>TT	c.(1663-1665)ggg>TTg	p.G555L	TTLL6_uc002iob.3_Missense_Mutation_p.G248L|TTLL6_uc010dbi.3_Non-coding_Transcript|TTLL6_uc002ioc.3_Missense_Mutation_p.G308L|TTLL6_uc002iod.3_Missense_Mutation_p.G402L	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 6 (TTLL6), transcript variant 1, mRNA.	507						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TGCCGATTCCCCCTGCATCTCT	0.515000														291			8		0	0	6.4e-05	0	0
CILP2	148113	broad.mit.edu	37	19	19654632	19654632	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:19654632C>T	uc002nmw.4	+	7	1381	c.1296C>T	c.(1294-1296)tcC>tcT	p.S432S	CILP2_uc002nmv.4_Silent_p.S426S	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	426						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						TGGCAGGCTCCAGCCCCCGCT	0.672000														35			9		0	0	0.000274275	0	0
SYNE1	23345	broad.mit.edu	37	6	152763308	152763308	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:152763308C>T	uc021zhb.1	-	28	4133	c.3910G>A	c.(3910-3912)Ggg>Agg	p.G1304R	SYNE1_uc003qot.4_Missense_Mutation_p.G1311R|SYNE1_uc003qou.4_Missense_Mutation_p.G1304R|SYNE1_uc010kjb.1_Missense_Mutation_p.G1287R|SYNE1_uc003qow.3_Missense_Mutation_p.G599R|SYNE1_uc003qox.1_Missense_Mutation_p.G820R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1304					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.G1304E(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGCAGCCCCCCTTCTCCCTGC	0.592000										HNSCC(10;0.0054)				29			33		0	0	0.00283554	0	0
KCNB2	9312	broad.mit.edu	37	8	73480509	73480509	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:73480509G>A	uc003xzb.3	+	1	1128	c.540G>A	c.(538-540)tgG>tgA	p.W180*		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	180					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AGAAACTGTGGGACTTGCTGG	0.458000														127			7		0	0	0.00307968	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140865196	140865196	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140865196C>T	uc003lky.2	+	0	456	c.456C>T	c.(454-456)ttC>ttT	p.F152F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc011dbb.2_Silent_p.F152F	NM_018928	NP_061751	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 4 (PCDHGC4), transcript variant 1, mRNA.	152	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAGCGTTTCCCGTTGGAAA	0.537000														52			15		0	0	0.00316338	0	0
PTPRN2	5799	broad.mit.edu	37	7	157985113	157985113	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:157985113C>T	uc003wno.3	-	4	576	c.455G>A	c.(454-456)cGa>cAa	p.R152Q	PTPRN2_uc003wnp.3_Missense_Mutation_p.R135Q|PTPRN2_uc003wnq.3_Missense_Mutation_p.R152Q|PTPRN2_uc003wnr.3_Missense_Mutation_p.R114Q|PTPRN2_uc011kwa.2_Missense_Mutation_p.R175Q	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	152						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R152Q(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CAGGTGGCGTCGGAGGGCGTT	0.652000														65			40		0	0	0.00195071	0	0
NCR2	9436	broad.mit.edu	37	6	41304152	41304152	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:41304152T>A	uc003oqh.2	+	1	467	c.380T>A	c.(379-381)cTg>cAg	p.L127Q	NCR2_uc003oqj.2_Missense_Mutation_p.L127Q|NCR2_uc003oqi.2_Missense_Mutation_p.L127Q	NM_004828	NP_004819	O95944	NCTR2_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 2 (NCR2), transcript variant 1, mRNA.	127					cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					AGATTCTATCTGGTGGTATCT	0.532000														35			23		0	0	0.000720815	0	0
CNGA1	1259	broad.mit.edu	37	4	47944130	47944130	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:47944130C>T	uc003gxu.3	-	7	833	c.692G>A	c.(691-693)gGa>gAa	p.G231E	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.G162E	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	162					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						ATATGTGTTTCCCGAGGGATC	0.338000														61			21		0	0	0.00229938	0	0
CDC14C	168448	broad.mit.edu	37	7	48964610	48964610	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:48964610G>A	uc010kyv.1	+	0	454	c.342G>A	c.(340-342)ttG>ttA	p.L114L						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		TTATATACTTGGGGAGAACCC	0.378000														42			23		0	0	0.00195071	0	0
BPHL	670	broad.mit.edu	37	6	3129332	3129332	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:3129332C>T	uc003mva.3	+	3	481	c.432C>T	c.(430-432)acC>acT	p.T144T	BPHL_uc003muz.3_Non-coding_Transcript|BPHL_uc011dht.2_Non-coding_Transcript|BPHL_uc003muy.3_Silent_p.T127T	NM_004332	NP_004323	Q86WA6	BPHL_HUMAN	Homo sapiens biphenyl hydrolase-like (serine hydrolase) (BPHL), transcript variant 1, mRNA.	144					cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GGGGCATAACCGCACTCATTG	0.498000														81			37		0	0	0.00170553	0	0
WDR41	55255	broad.mit.edu	37	5	76729001	76729001	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:76729001G>A	uc003kff.1	-	12	1626	c.1339C>T	c.(1339-1341)Caa>Taa	p.Q447*	WDR41_uc011csy.1_Nonsense_Mutation_p.Q389*|WDR41_uc011csz.1_Nonsense_Mutation_p.Q392*	NM_018268	NP_060738	Q9HAD4	WDR41_HUMAN	Homo sapiens WD repeat domain 41 (WDR41), mRNA.	447										NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		TCTAATTTTTGAAATAATCTT	0.373000														74			15		0	0	0.000958276	0	0
CCDC40	55036	broad.mit.edu	37	17	78063628	78063628	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:78063628C>T	uc010dht.3	+	16	2808	c.2777C>T	c.(2776-2778)tCc>tTc	p.S926F	CCDC40_uc021uem.1_Missense_Mutation_p.S926F|CCDC40_uc002jxm.4_Missense_Mutation_p.S709F|CCDC40_uc002jxn.4_Missense_Mutation_p.S322F	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	926					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TCAGTGGATTCCGAGATCGGC	0.552000														20			24		0	0	0.000878237	0	0
C12orf42	374470	broad.mit.edu	37	12	103699882	103699882	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:103699882C>T	uc001tjt.2	-	4	589	c.501G>A	c.(499-501)ttG>ttA	p.L167L	C12orf42_uc001tjs.3_Intron|C12orf42_uc009zuf.1_Silent_p.L167L|C12orf42_uc001tju.2_Silent_p.L72L	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	Homo sapiens chromosome 12 open reading frame 42 (C12orf42), transcript variant 1, mRNA.	167										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CCAGTTGTTCCAAAAATGAAC	0.493000														28			11		0	0	0.000673444	0	0
MYH1	4619	broad.mit.edu	37	17	10408608	10408608	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:10408608G>A	uc002gmo.3	-	20	2401	c.2307C>T	c.(2305-2307)ttC>ttT	p.F769F	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	769	Actin-binding (By similarity).|Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GACCAGCTTTGAAAAAGACCT	0.458000														29			19		0	0	0.00121646	0	0
TTC36	143941	broad.mit.edu	37	11	118399448	118399448	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:118399448G>A	uc001ptg.1	+	1	249	c.249G>A	c.(247-249)gaG>gaA	p.E83E	TTC36_uc010ryb.1_Non-coding_Transcript|TTC36_uc010ryc.1_Silent_p.E24E|TMEM25_uc010ryd.1_5'Flank|TMEM25_uc001ptk.4_5'Flank|TMEM25_uc010ryf.2_5'Flank|TMEM25_uc010rye.2_5'Flank|TMEM25_uc009zad.3_5'Flank|TMEM25_uc001pth.3_5'Flank|TMEM25_uc001pti.3_5'Flank|TMEM25_uc001ptl.2_5'Flank|TMEM25_uc001ptm.2_5'Flank	NM_001080441	NP_001073910	A6NLP5	TTC36_HUMAN	Homo sapiens tetratricopeptide repeat domain 36 (TTC36), mRNA.	83							binding			lung(2)	2						TGCTGCCTGAGAGGGCTTCAG	0.647000														16			11		0	0	0.00185496	0	0
abParts	0	broad.mit.edu	37	14	106733245	106733245	+	RNA	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:106733245G>A	uc021ser.1	-	876		c.21301C>T								Parts of antibodies, mostly variable regions.																		ACTCTGCCCTGGAACTTCTGT	0.522000														183			49		0	0	0.00321405	0	0
PLEC	5339	broad.mit.edu	37	8	144995943	144995943	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:144995943G>A	uc003zaf.1	-	31	8627	c.8457C>T	c.(8455-8457)ctC>ctT	p.L2819L	PLEC_uc003zab.1_Silent_p.L2682L|PLEC_uc003zac.1_Silent_p.L2686L|PLEC_uc003zad.2_Silent_p.L2682L|PLEC_uc003zae.1_Silent_p.L2650L|PLEC_uc003zag.1_Silent_p.L2660L|PLEC_uc003zah.2_Silent_p.L2668L|PLEC_uc003zaj.2_Silent_p.L2709L	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	2819	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCCGCCGTGCGAGCTCGTCCA	0.667000														26			15		0	0	0.00074312	0	0
ZDBF2	57683	broad.mit.edu	37	2	207172439	207172439	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:207172439G>A	uc002vbp.2	+	4	3437	c.3187G>A	c.(3187-3189)Gaa>Aaa	p.E1063K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1063							nucleic acid binding|zinc ion binding	p.E1063*(3)|p.E1063K(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTTTTTGAAGGAAAAACATGT	0.323000														24			25		0	0	0.00106085	0	0
ESPNL	339768	broad.mit.edu	37	2	239039894	239039894	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:239039894C>T	uc002vxq.4	+	8	2649	c.2539C>T	c.(2539-2541)Ccg>Tcg	p.P847S	ESPNL_uc010fyw.3_Missense_Mutation_p.P543S	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	Homo sapiens espin-like (ESPNL), mRNA.	847										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGACGGGGCTCCGGTGCCCTA	0.697000														3			3		0	0	6.4e-05	0	0
SERPINB1	1992	broad.mit.edu	37	6	2838904	2838904	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:2838904G>A	uc003mub.3	-	2	229	c.185C>T	c.(184-186)aCg>aTg	p.T62M	SERPINB1_uc021ykq.1_Non-coding_Transcript	NM_030666	NP_109591	P30740	ILEU_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 1 (SERPINB1), mRNA.	62					regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		CTCTTCAACCGTGTTGAAATG	0.328000														61			17		0	0	0.00121646	0	0
MYH7	4625	broad.mit.edu	37	14	23885492	23885492	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:23885492G>A	uc001wjx.3	-	33	4780	c.4674C>T	c.(4672-4674)atC>atT	p.I1558I		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1558					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGGCCCGGAGGATCTTGCCCT	0.647000														86			6		0	0	0.00198382	0	0
MAPK9	5601	broad.mit.edu	37	5	179676046	179676046	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:179676046C>T	uc003mls.4	-	5	814	c.543G>A	c.(541-543)atG>atA	p.M181I	MAPK9_uc003mlv.4_Missense_Mutation_p.M181I|MAPK9_uc003mlt.4_Missense_Mutation_p.M181I|MAPK9_uc010jlc.3_Missense_Mutation_p.M181I|MAPK9_uc021yji.1_Missense_Mutation_p.M155I|MAPK9_uc021yjj.1_Missense_Mutation_p.M181I|MAPK9_uc021yjk.1_Missense_Mutation_p.M181I|MAPK9_uc021yjl.1_Missense_Mutation_p.M181I|MAPK9_uc011dgx.2_Missense_Mutation_p.M181I	NM_002752	NP_002743	P45984	MK09_HUMAN	Homo sapiens mitogen-activated protein kinase 9 (MAPK9), transcript variant JNK2-a2, mRNA.	181	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGGGGTCATCATGAAGTTAG	0.537000														95			64		0	0	0.00361006	0	0
TANC1	85461	broad.mit.edu	37	2	160032913	160032913	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:160032913G>A	uc002uag.3	+	12	2060	c.1786G>A	c.(1786-1788)Gaa>Aaa	p.E596K	TANC1_uc010fol.1_Missense_Mutation_p.E490K|TANC1_uc010zcm.2_Missense_Mutation_p.E588K|TANC1_uc010fom.1_Missense_Mutation_p.E402K	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	596						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TGGCTTAAATGAAGCTGAGTT	0.284000														52			20		0	0	0.00152264	0	0
KRT18	3875	broad.mit.edu	37	12	53344144	53344144	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:53344144C>T	uc001sbe.3	+	2	519	c.450C>T	c.(448-450)atC>atT	p.I150I	KRT18_uc009zmn.2_Silent_p.I150I|KRT18_uc001sbg.3_Silent_p.I150I|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank	NM_199187	NP_954657	P05783	K1C18_HUMAN	Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA.	150	Coil 1B.|Necessary for interaction with PNN.|Rod.				Golgi to plasma membrane CFTR protein transport|anatomical structure morphogenesis|cell cycle|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						ATGCCCGCATCGTTCTGCAGA	0.512000														272			190		0	0	0.00361006	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2306962	2306962	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:2306962G>A	uc003gex.2	-	7	1425	c.1105C>T	c.(1105-1107)Cca>Tca	p.P369S	ZFYVE28_uc011bvk.2_Missense_Mutation_p.P299S|ZFYVE28_uc011bvl.2_Missense_Mutation_p.P339S|ZFYVE28_uc003gew.2_Missense_Mutation_p.P255S	NM_020972	NP_001166130	Q9HCC9	LST2_HUMAN	Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.	369					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CTGTGAGCTGGGGACTGGCAG	0.672000														27			43		0	0	0.00222228	0	0
FREM1	158326	broad.mit.edu	37	9	14770702	14770703	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:14770702_14770703GG>AA	uc003zlm.3	-	26	5775_5776	c.4959_4960CC>TT	c.(4957-4962)tcccgc>tcTTgc	p.R1654C	FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_Non-coding_Transcript|FREM1_uc003zll.3_Missense_Mutation_p.R190C	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1654					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.R67S(1)|p.R1655S(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTCAACACGCGGGAAGTGATGT	0.470000														5			12		0	0	6.4e-05	0	0
ME1	4199	broad.mit.edu	37	6	83947495	83947495	+	Missense_Mutation	SNP	G	A	A	rs142932433		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:83947495G>A	uc003pjy.3	-	8	1232	c.967C>T	c.(967-969)Cca>Tca	p.P323S	ME1_uc011dzb.2_Missense_Mutation_p.P248S|ME1_uc011dzc.2_Missense_Mutation_p.P157S	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	323					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TTCTCTTTTGGTAAACCTTCT	0.338000														20			13		0	0	0.00074312	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144059832	144059832	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:144059832C>T	uc003wel.3	+	1	188	c.70C>T	c.(70-72)Cct>Tct	p.P24S	ARHGEF5_uc003wek.3_Missense_Mutation_p.P24S	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	24					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CAGCATTATCCCTGAGGCTCC	0.547000														201			21		0	0	0.00285205	0	0
NUP210L	91181	broad.mit.edu	37	1	153995689	153995689	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:153995689C>T	uc001fdw.3	-	30	4279	c.4207G>A	c.(4207-4209)Ggc>Agc	p.G1403S	NUP210L_uc009woq.3_Missense_Mutation_p.G312S|NUP210L_uc010peh.2_Missense_Mutation_p.G1403S	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	1403						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGAGACATGCCCAAGGGAAAT	0.483000														102			33		0	0	0.00375469	0	0
HPN	3249	broad.mit.edu	37	19	35551364	35551364	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:35551364G>A	uc002nxq.2	+	8	813	c.568G>A	c.(568-570)Gga>Aga	p.G190R	HPN_uc002nxr.2_Missense_Mutation_p.G190R|HPN_uc010xsh.1_Missense_Mutation_p.G159R|HPN_uc002nxt.1_Missense_Mutation_p.G74R|LOC100128675_uc010xsi.2_Intron	NM_002151	NP_892028	P05981	HEPS_HUMAN	Homo sapiens hepsin (HPN), transcript variant 2, mRNA.	190	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CCTCTGTGGGGGATCCCTGCT	0.677000														66			15		0	0	0.00152264	0	0
TMBIM4	51643	broad.mit.edu	37	12	66531946	66531946	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:66531946A>G	uc009zqr.3	-	8	728	c.652_splice	c.e8-1	p.F218_splice	LLPH_uc010ssx.2_Intron|TMBIM4_uc001stc.3_Splice_Site_p.F171_splice|TMBIM4_uc001std.3_Splice_Site_p.F140_splice|TMBIM4_uc001stf.3_Splice_Site_p.V159_splice|TMBIM4_uc009zqs.3_Splice_Site_p.G155_splice	NM_016056	NP_057140	Q9HC24	TMBI4_HUMAN	Homo sapiens transmembrane BAX inhibitor motif containing 4 (TMBIM4), mRNA.	171						integral to membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		TAAAAAAAAAACTATAGGGAA	0.338000														20			4		0	0	0.00024832	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30950957	30950957	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:30950957C>T	uc003aig.1	-	3	1395	c.1255G>A	c.(1255-1257)Gat>Aat	p.D419N	GAL3ST1_uc003aih.1_Missense_Mutation_p.D419N|GAL3ST1_uc003aii.1_Missense_Mutation_p.D419N|GAL3ST1_uc010gvz.1_Missense_Mutation_p.D419N	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.	419					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CGCAGGAAATCGCGAATGAAC	0.682000														25			13		0	0	0.00244969	0	0
POLM	27434	broad.mit.edu	37	7	44119559	44119559	+	Splice_Site	SNP	C	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:44119559C>G	uc003tjt.3	-	3	465	c.373_splice	c.e3-1	p.V125_splice	POLM_uc003tju.3_Splice_Site_p.V125_splice|POLM_uc003tjv.3_Splice_Site|POLM_uc003tjx.2_Splice_Site_p.V125_splice|POLM_uc011kbt.1_Intron|POLM_uc003tjz.4_Splice_Site_p.V125_splice|POLM_uc003tka.1_5'Flank|POLM_uc011kbu.1_Intron|POLM_uc010kxy.2_Splice_Site_p.V125_splice	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN	Homo sapiens polymerase (DNA directed), mu (POLM), mRNA.	125					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						GCCCAGCCACCTGGGGATGGG	0.642000								DNA polymerases (catalytic subunits)						20			18		0	0	0.00074312	0	0
C7orf10	79783	broad.mit.edu	37	7	40228112	40228112	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:40228112G>A	uc022acd.1	+	3	290	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	C7orf10_uc003thn.2_Missense_Mutation_p.R89Q|C7orf10_uc003tho.2_Missense_Mutation_p.R89Q	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN	Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.	89							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						GATGATACACGAACTTGGGGG	0.338000														35			16		0	0	0.00229938	0	0
PKDREJ	10343	broad.mit.edu	37	22	46655266	46655266	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:46655266A>T	uc003bhh.3	-	0	3954	c.3954T>A	c.(3952-3954)aaT>aaA	p.N1318K		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1318	PLAT.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TGCTAAACAGATTTTCCACTT	0.458000														97			37		0	0	0.00128727	0	0
EEF2	1938	broad.mit.edu	37	19	3977900	3977900	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:3977900G>A	uc002lze.3	-	11	2067	c.1984C>T	c.(1984-1986)Ctc>Ttc	p.L662F		NM_001961	NP_001952	P13639	EF2_HUMAN	Homo sapiens eukaryotic translation elongation factor 2 (EEF2), mRNA.	662						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGTCGGTGAGGATGTTGGGG	0.647000														57			13		0	0	0.00244969	0	0
HABP2	3026	broad.mit.edu	37	10	115335753	115335754	+	Missense_Mutation	DNP	GT	TA	TA			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:115335753_115335754GT>TA	uc001lai.4	+	3	424_425	c.321_322GT>TA	c.(319-324)aagtgt>aaTAgt	p.107_108KC>NS	HABP2_uc021pyr.1_Missense_Mutation_p.81_82KC>NS|HABP2_uc010qrz.1_Non-coding_Transcript|HABP2_uc010qry.1_Missense_Mutation_p.S96I	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	107	EGF-like 1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		CTGGGAATAAGTGTCAGAAAGG	0.535000														35			16		0	0	6.4e-05	0	0
GRM3	2913	broad.mit.edu	37	7	86394533	86394533	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:86394533G>A	uc003uid.3	+	1	1171	c.72G>A	c.(70-72)ggG>ggA	p.G24G	GRM3_uc010lef.3_Silent_p.G22G|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	24					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TCTCTTTAGGGGACCATAACT	0.393000														14			7		0	0	0.00198382	0	0
MOS	4342	broad.mit.edu	37	8	57026421	57026421	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:57026421G>A	uc011leb.2	-	0	121	c.121C>T	c.(121-123)Cct>Tct	p.P41S		NM_005372	NP_005363	P00540	MOS_HUMAN	Homo sapiens v-mos Moloney murine sarcoma viral oncogene homolog (MOS), mRNA.	41							ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			GGGGCCCGAGGAAGAGTGGCC	0.687000														9			8		0	0	0.00307968	0	0
LPHN2	23266	broad.mit.edu	37	1	82431863	82431863	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:82431863G>A	uc001dit.4	+	10	2269	c.2088G>A	c.(2086-2088)agG>agA	p.R696R	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Silent_p.R696R|LPHN2_uc001div.3_Silent_p.R696R|LPHN2_uc009wcd.3_Silent_p.R696R|LPHN2_uc001diw.3_Silent_p.R280R	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	709					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AGAACAGCAGGAATGGTAAGG	0.363000														28			17		0	0	0.00400662	0	0
FAM120C	54954	broad.mit.edu	37	X	54177717	54177717	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:54177717G>A	uc004dsz.4	-	3	1202	c.1119C>T	c.(1117-1119)aaC>aaT	p.N373N	FAM120C_uc011moh.2_Silent_p.N373N	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	Homo sapiens family with sequence similarity 120C (FAM120C), transcript variant 1, mRNA.	373										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CTACATCCAGGTTTGAGGGAT	0.468000														13			35		0	0	0.00111076	0	0
KIAA1804	84451	broad.mit.edu	37	1	233511738	233511738	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:233511738G>A	uc001hvt.4	+	6	2013	c.1752G>A	c.(1750-1752)agG>agA	p.R584R	KIAA1804_uc001hvu.4_Silent_p.R30R	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	584					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				ATGTAAAAAGGAATTTTAAGA	0.348000														69			16		0	0	0.00316338	0	0
PROX1	5629	broad.mit.edu	37	1	214170240	214170240	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:214170240C>T	uc001hkh.3	+	1	634	c.362C>T	c.(361-363)tCc>tTc	p.S121F	PROX1_uc001hkg.1_Missense_Mutation_p.S121F	NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	121					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AGTACAGGCTCCGAAGTACAT	0.488000														82			106		0	0	0.00361006	0	0
FN1	2335	broad.mit.edu	37	2	216264013	216264013	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:216264013G>A	uc002vfa.3	-	20	3581	c.3315C>T	c.(3313-3315)atC>atT	p.I1105I	FN1_uc002vfc.3_Silent_p.I1105I|FN1_uc002vfe.3_Silent_p.I1105I|FN1_uc002vff.3_Silent_p.I1105I|FN1_uc002vfg.3_Silent_p.I1105I|FN1_uc002vfh.3_Silent_p.I1105I|FN1_uc002vfi.3_Silent_p.I1105I|FN1_uc002vfj.3_Silent_p.I1105I|FN1_uc002vfb.3_Silent_p.I1105I	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	1105	Fibronectin type-III 6.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCGTCCATGTGATCACAATGG	0.468000														56			10		0	0	0.00185496	0	0
ZNF536	9745	broad.mit.edu	37	19	30934619	30934619	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:30934619C>T	uc002nsu.1	+	1	288	c.150C>T	c.(148-150)ctC>ctT	p.L50L	ZNF536_uc010edd.1_Silent_p.L50L	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.E49K(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCCCCGAGCTCCATCCCCGGC	0.672000														49			11		0	0	0.00136819	0	0
CSMD2	114784	broad.mit.edu	37	1	34123683	34123683	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:34123683C>A	uc001bxm.1	-	26	4487	c.4310G>T	c.(4309-4311)aGt>aTt	p.S1437I	CSMD2_uc001bxn.1_Missense_Mutation_p.S1397I|CSMD2_uc001bxo.1_Missense_Mutation_p.S310I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1397	Sushi 8.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACTGTCACCACTCCGACTCCC	0.582000														57			41		6.5261e-18	1.49337e-17	0.00195071	1	0
SMYD5	10322	broad.mit.edu	37	2	73449921	73449921	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:73449921C>T	uc002siw.2	+	6	710	c.681C>T	c.(679-681)gcC>gcT	p.A227A	SMYD5_uc010yre.1_Silent_p.A111A	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	Homo sapiens SMYD family member 5 (SMYD5), mRNA.	227							metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						TCACAGAGGCCCTCTATGAGG	0.557000														23			4		0	0	0.000602214	0	0
GNL2	29889	broad.mit.edu	37	1	38042068	38042068	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:38042068C>T	uc001cbk.3	-	8	1162	c.999G>A	c.(997-999)aaG>aaA	p.K333K	GNL2_uc010oif.1_Silent_p.K174K	NM_013285	NP_037417	Q13823	NOG2_HUMAN	Homo sapiens guanine nucleotide binding protein-like 2 (nucleolar) (GNL2), mRNA.	333	G.				ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				TGCAAACTTTCTTAGAACGCA	0.418000														66			31		0	0	0.00178596	0	0
OR5H6	79295	broad.mit.edu	37	3	97983347	97983347	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:97983347C>T	uc003dsi.1	+	0	219	c.219C>T	c.(217-219)atC>atT	p.I73I		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACCTTCATATCCCAATGTACT	0.418000														64			32		0	0	0.00327116	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348394	140348394	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140348394G>A	uc003lii.3	+	0	2648	c.2043G>A	c.(2041-2043)gtG>gtA	p.V681V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Silent_p.V681V	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	681	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGCTGTGGTGGATAGGGTTT	0.473000														65			8		0	0	0.000442599	0	0
FAM71A	149647	broad.mit.edu	37	1	212799628	212799628	+	RNA	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:212799628G>A	uc010pth.1	-	0		c.486C>T			FAM71A_uc001hjk.3_Missense_Mutation_p.R470K			Q8IYT1	FA71A_HUMAN	Homo sapiens cDNA FLJ40118 fis, clone TESTI2009412.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		AGAGCCAATAGAGATGACAAA	0.562000														82			20		0	0	0.00188189	0	0
GRM7	2917	broad.mit.edu	37	3	7721852	7721852	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:7721852C>T	uc003bqm.2	+	8	2842	c.2568C>T	c.(2566-2568)gtC>gtT	p.V856V	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.V856V|GRM7_uc003bql.2_Silent_p.V856V|GRM7_uc003bqn.1_Silent_p.V439V	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	856					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AACTCAATGTCCAGAAACGGA	0.512000														35			20		0	0	0.00229938	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76877951	76877951	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:76877951T>A	uc001dhh.2	+	2	635	c.472T>A	c.(472-474)Ttc>Atc	p.F158I	ST6GALNAC3_uc001dhg.4_Missense_Mutation_p.F158I|ST6GALNAC3_uc010orh.1_Missense_Mutation_p.F93I	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 (ST6GALNAC3), transcript variant 1, mRNA.	158					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TTGGGGACCTTTCCGCAATAT	0.393000														25			8		0	0	0.000274275	0	0
GLIS1	148979	broad.mit.edu	37	1	53975611	53975611	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:53975611G>A	uc001cvr.1	-	7	2015	c.1448C>T	c.(1447-1449)cCg>cTg	p.P483L		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	483	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CTGGCCCCCCGGAGAATGGCT	0.687000														8			4		0	0	0.000602214	0	0
ABCA12	26154	broad.mit.edu	37	2	215866380	215866380	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:215866380G>A	uc002vew.3	-	20	2985	c.2765C>T	c.(2764-2766)tCc>tTc	p.S922F	ABCA12_uc002vev.3_Missense_Mutation_p.S604F|ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	922					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TACACAAGAGGAAATATTTAC	0.368000														40			12		0	0	0.00136819	0	0
KLF8	11279	broad.mit.edu	37	X	56291640	56291640	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:56291640C>T	uc004dur.3	+	2	1055	c.109C>T	c.(109-111)Ccc>Tcc	p.P37S	KLF8_uc010nkg.2_Missense_Mutation_p.P32S|KLF8_uc011mop.2_Missense_Mutation_p.P37S|KLF8_uc010nkh.3_Non-coding_Transcript	NM_007250	NP_009181	O95600	KLF8_HUMAN	Homo sapiens Kruppel-like factor 8 (KLF8), transcript variant 1, mRNA.	37					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						GAACAGAGATCCCCCTGAGAT	0.418000														1			4		0	0	0.00024832	0	0
HERC2	8924	broad.mit.edu	37	15	28370267	28370267	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:28370267G>A	uc001zbj.3	-	83	12981	c.12875C>T	c.(12874-12876)cCt>cTt	p.P4292L		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	4292					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TACCAACCGAGGCCTCTGGAT	0.557000														127			59		0	0	0.00361006	0	0
CDH12	1010	broad.mit.edu	37	5	21802340	21802340	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:21802340G>A	uc010iuc.2	-	6	1650	c.1192C>T	c.(1192-1194)Ccg>Tcg	p.P398S	CDH12_uc011cno.1_Missense_Mutation_p.P358S|CDH12_uc003jgk.2_Missense_Mutation_p.P398S	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	398	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GTCCCTACCGGAGTGTCTTCA	0.483000										HNSCC(59;0.17)				27			7		0	0	0.000274275	0	0
NNT	23530	broad.mit.edu	37	5	43650655	43650655	+	Silent	SNP	T	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:43650655T>A	uc003joe.3	+	11	1938	c.1683T>A	c.(1681-1683)gcT>gcA	p.A561A	NNT_uc003jof.3_Silent_p.A561A	NM_012343	NP_892022	Q13423	NNTM_HUMAN	Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	561					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	p.A561S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	GCCTTGCTGCTCTTGCTGCAT	0.433000														26			20		0	0	0.00332997	0	0
PLB1	151056	broad.mit.edu	37	2	28719005	28719005	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:28719005C>T	uc002rmb.2	+	0	68	c.24C>T	c.(22-24)ttC>ttT	p.F8F	PLB1_uc010ezj.2_Silent_p.F8F	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	8					lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CAGGCATTTTCCTCCTGGAGC	0.597000														55			23		0	0	0.00395357	0	0
SESN2	83667	broad.mit.edu	37	1	28607248	28607248	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:28607248C>T	uc001bps.3	+	9	1774	c.1378C>T	c.(1378-1380)Ctg>Ttg	p.L460L		NM_031459	NP_113647	P58004	SESN2_HUMAN	Homo sapiens sestrin 2 (SESN2), mRNA.	460					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGCTGCTCCTGGAGGCGCG	0.637000														62			27		0	0	0.00209593	0	0
SEPT10	151011	broad.mit.edu	37	2	110321941	110321941	+	Splice_Site	SNP	A	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:110321941A>T	uc002tey.3	-	8	1407	c.1028_splice	c.e8+1	p.S343_splice	SEPT10_uc010ywu.1_Splice_Site_p.S176_splice|SEPT10_uc002tew.3_Splice_Site_p.S343_splice|SEPT10_uc002tex.3_Splice_Site_p.S320_splice|SEPT10_uc010ywv.2_Splice_Site_p.S209_splice|SEPT10_uc002tev.1_Splice_Site_p.S150_splice|SEPT10_uc010fjo.3_Splice_Site|SEPT10_uc002tez.1_Nonstop_Mutation_p.*119K	NM_144710	NP_653311	Q9P0V9	SEP10_HUMAN	Homo sapiens septin 10 (SEPT10), transcript variant 1, mRNA.	343					cell cycle|cell division	septin complex	GTP binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						ACCCCACCCTACCTGACTGGC	0.488000														50			18		0	0	0.00332997	0	0
MYOM3	127294	broad.mit.edu	37	1	24383922	24383922	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:24383922C>T	uc001bin.4	-	36	4409	c.4246G>A	c.(4246-4248)Gag>Aag	p.E1416K	MYOM3_uc001bil.4_Missense_Mutation_p.E309K|MYOM3_uc001bim.4_Missense_Mutation_p.E1073K	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	1416	Ig-like C2-type 4.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGGCCCGTCTCGGAGCCATAC	0.567000														20			16		0	0	0.00074312	0	0
LTBP1	4052	broad.mit.edu	37	2	33572504	33572504	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:33572504C>T	uc021vft.1	+	25	3950	c.3927C>T	c.(3925-3927)ttC>ttT	p.F1309F	LTBP1_uc002rou.3_Silent_p.F983F|LTBP1_uc002rov.3_Silent_p.F930F|LTBP1_uc010ymz.2_Silent_p.F941F|LTBP1_uc010yna.2_Silent_p.F888F|LTBP1_uc010ynb.2_Silent_p.F207F	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1309	EGF-like 14; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AAGGGTCCTTCCTGTGCGTGT	0.542000														63			34		0	0	0.00111076	0	0
CASP14	23581	broad.mit.edu	37	19	15164592	15164592	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:15164592G>A	uc010dzv.2	+	3	438	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K		NM_012114	NP_036246	P31944	CASPE_HUMAN	Homo sapiens caspase 14, apoptosis-related cysteine peptidase (CASP14), mRNA.	76					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity	p.R75Q(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						CGATTCCCGGGAAGATCCCGT	0.542000														44			35		0	0	0.00128727	0	0
OR5K4	403278	broad.mit.edu	37	3	98072952	98072952	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:98072952C>T	uc011bgv.2	+	0	255	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TAGAGAATTTCTTTTCTGAGG	0.433000														144			76		0	0	0.00361006	0	0
ABCB5	340273	broad.mit.edu	37	7	20766722	20766722	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:20766722C>T	uc010kuh.3	+	21	2922	c.2685C>T	c.(2683-2685)gcC>gcT	p.A895A	ABCB5_uc003suw.4_Silent_p.A450A|ABCB5_uc003sux.1_Silent_p.A73A	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	450					regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GGGAAAAAGCCTTCGAGCAAA	0.323000														54			25		0	0	0.000878237	0	0
NF1	4763	broad.mit.edu	37	17	29665053	29665053	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:29665053C>T	uc002hgg.3	+	44	7098	c.6715C>T	c.(6715-6717)Caa>Taa	p.Q2239*	NF1_uc002hgh.3_Nonsense_Mutation_p.Q2218*|NF1_uc010cso.3_Nonsense_Mutation_p.Q427*|NF1_uc010wbt.1_Intron|NF1_uc010wbu.1_Non-coding_Transcript	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2239					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATTTGCATTCCAATATAATCC	0.328000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				31			47		0	0	0.00321405	0	0
TNFAIP6	7130	broad.mit.edu	37	2	152222712	152222712	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:152222712C>T	uc002txk.3	+	2	450	c.375C>T	c.(373-375)gcC>gcT	p.A125A	FW340097_uc021vqy.1_Intron|MIR4773-1_uc021vqz.1_5'Flank	NM_007115	NP_009046	P98066	TSG6_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 6 (TNFAIP6), mRNA.	125	Link.				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		GATGGGATGCCTATTGCTACA	0.388000														57			10		0	0	0.000673444	0	0
NLRP13	126204	broad.mit.edu	37	19	56443522	56443522	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:56443522G>A	uc010ygg.2	-	0	181	c.156C>T	c.(154-156)ttC>ttT	p.F52F		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	52	DAPIN.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GGATACGCGGGAAGTGCCCCT	0.547000														61			16		0	0	0.000958276	0	0
PKP2	5318	broad.mit.edu	37	12	33031073	33031073	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:33031073C>T	uc001rlj.4	-	2	856	c.741G>A	c.(739-741)ggG>ggA	p.G247G	PKP2_uc001rlk.4_Silent_p.G247G|PKP2_uc010skj.2_Silent_p.G247G	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	247					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGCGGCTGGTCCCTGGCCTGG	0.622000														31			14		0	0	0.00185496	0	0
TSC22D1	8848	broad.mit.edu	37	13	45148310	45148310	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:45148310G>T	uc001uzn.4	-	0	2392	c.1901C>A	c.(1900-1902)cCa>cAa	p.P634Q	TSC22D1_uc001uzo.2_Intron|TSC22D1-AS1_uc021rjb.1_5'Flank	NM_183422	NP_904358	Q15714	T22D1_HUMAN	Homo sapiens TSC22 domain family, member 1 (TSC22D1), transcript variant 1, mRNA.	634	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		AGAAACCATTGGTTGCTGTTG	0.507000														119			13		1.05317e-09	2.39267e-09	0.00244969	1	0
ABCA13	154664	broad.mit.edu	37	7	48313338	48313338	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:48313338G>A	uc003toq.2	+	16	4099	c.4075G>A	c.(4075-4077)Gaa>Aaa	p.E1359K	ABCA13_uc010kyr.2_Missense_Mutation_p.E862K|ABCA13_uc022acp.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1359					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GTGTATTTTAGAAGATGGCTT	0.333000														24			11		0	0	0.000978159	0	0
CYP2C19	1557	broad.mit.edu	37	10	96466568	96466568	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:96466568G>A	uc001kjv.4	+	4	996	c.670G>A	c.(670-672)Gat>Aat	p.D224N	CYP2C19_uc001kjw.4_Intron|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	224					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TGCTCTCATCGATTATCTCCC	0.303000														20			4		0	0	0.000602214	0	0
KIF4B	285643	broad.mit.edu	37	5	154394675	154394675	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:154394675G>A	uc010jih.1	+	0	1416	c.1256G>A	c.(1255-1257)aGg>aAg	p.R419K		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	419					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.R419M(3)|p.R419S(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATGTTGGAGAGGATCATTTTG	0.478000														124			25		0	0	0.00127121	0	0
RFFL	117584	broad.mit.edu	37	17	33353483	33353483	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:33353483G>A	uc010cti.1	-	1	332	c.108C>T	c.(106-108)tcC>tcT	p.S36S	RFFL_uc002hiq.2_Intron|RFFL_uc002him.1_Silent_p.S30S|RFFL_uc002hin.1_Silent_p.S30S|RFFL_uc002hip.2_Silent_p.S30S|RFFL_uc002hio.2_Silent_p.S30S	NM_001017368	NP_001017368	Q8WZ73	RFFL_HUMAN	Homo sapiens ring finger and FYVE-like domain containing 1 (RFFL), transcript variant 2, mRNA.	30					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ACCCAGGGTTGGAATAGGCCT	0.582000														14			18		0	0	0.00074312	0	0
KIAA0319L	79932	broad.mit.edu	37	1	36020054	36020054	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:36020054G>A	uc001byx.3	-	1	297	c.39C>T	c.(37-39)tcC>tcT	p.S13S	KIAA0319L_uc010ohw.2_Non-coding_Transcript|KIAA0319L_uc010ohx.1_Silent_p.S13S	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	Homo sapiens KIAA0319-like (KIAA0319L), mRNA.	13						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATAAAATCCAGGAAGCAGGAT	0.463000														66			37		0	0	0.00111076	0	0
ZC3H3	23144	broad.mit.edu	37	8	144620279	144620279	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:144620279G>A	uc003yyd.2	-	1	1287	c.1258C>T	c.(1258-1260)Cca>Tca	p.P420S		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	420					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CCTACTGCTGGTCTGTCCCCC	0.627000														47			17		0	0	0.000958276	0	0
FAM134A	79137	broad.mit.edu	37	2	220046990	220046990	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:220046990G>A	uc002vjw.4	+	8	1407	c.1271G>A	c.(1270-1272)tGc>tAc	p.C424Y	FAM134A_uc010fwc.3_Missense_Mutation_p.C217Y|FAM134A_uc002vjx.3_Missense_Mutation_p.C217Y	NM_024293	NP_077269	Q8NC44	F134A_HUMAN	Homo sapiens family with sequence similarity 134, member A (FAM134A), mRNA.	424						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGTGAAATGCTCCCCTGGA	0.597000														67			28		0	0	0.00106085	0	0
TESK2	10420	broad.mit.edu	37	1	45813622	45813622	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:45813622G>A	uc001cns.1	-	5	994	c.591C>T	c.(589-591)gaC>gaT	p.D197D	TESK2_uc009vxr.1_Silent_p.D197D|TESK2_uc010olo.1_Silent_p.D114D|TESK2_uc009vxs.1_5'UTR	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	Homo sapiens testis-specific kinase 2 (TESK2), mRNA.	197	Protein kinase.				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					CCAGGCCAAAGTCAGCTACCA	0.522000														68			47		0	0	0.00361006	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882851	228882851	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:228882851C>T	uc002vpq.2	-	6	2766	c.2719G>A	c.(2719-2721)Gac>Aac	p.D907N	SPHKAP_uc002vpp.2_Missense_Mutation_p.D907N|SPHKAP_uc010zlx.1_Missense_Mutation_p.D907N	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	907						cytoplasm	protein binding	p.D906N(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGCAGCAGGTCATCCCCTAAC	0.488000														129			27		0	0	0.000878237	0	0
TRPC5	7224	broad.mit.edu	37	X	111097263	111097263	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:111097263C>T	uc004epl.1	-	3	1891	c.972G>A	c.(970-972)cgG>cgA	p.R324R	TRPC5_uc004epm.1_Silent_p.R324R	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	324					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCCAGTGTTTCCGCCGCCATC	0.517000														2			14		0	0	0.00400662	0	0
SLC22A14	9389	broad.mit.edu	37	3	38357110	38357110	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:38357110G>A	uc003cib.2	+	7	1513	c.1440G>A	c.(1438-1440)acG>acA	p.T480T	SLC22A14_uc010hhc.1_Silent_p.T480T|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	480						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		AATCCATGACGATCTTGGTGC	0.592000														74			51		0	0	0.00361006	0	0
OR10T2	128360	broad.mit.edu	37	1	158368827	158368827	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:158368827C>T	uc010pih.2	-	0	430	c.430G>A	c.(430-432)Gag>Aag	p.E144K		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GAAATCAACTCCAACCCCAGC	0.473000														44			43		0	0	0.00285205	0	0
TFCP2	7024	broad.mit.edu	37	12	51510135	51510135	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:51510135C>T	uc001rxw.3	-	3	1141	c.420G>A	c.(418-420)tgG>tgA	p.W140*	TFCP2_uc001rxv.2_Nonsense_Mutation_p.W140*|TFCP2_uc009zlx.2_Nonsense_Mutation_p.W140*|TFCP2_uc009zly.1_Nonsense_Mutation_p.W42*	NM_005653	NP_005644	Q12800	TFCP2_HUMAN	Homo sapiens transcription factor CP2 (TFCP2), transcript variant 1, mRNA.	140	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						GGTTCCACCTCCAGCCCTCTA	0.438000														56			4		0	0	0.000602214	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144061029	144061029	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:144061029C>T	uc003wel.3	+	1	1385	c.1267C>T	c.(1267-1269)Cca>Tca	p.P423S	ARHGEF5_uc003wek.3_Missense_Mutation_p.P423S	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	423					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TGACCTGTTTCCAGGTGCCTC	0.577000														9			15		0	0	0.000958276	0	0
IPW	3653	broad.mit.edu	37	15	25336868	25336868	+	Splice_Site	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:25336868T>C	uc001yyb.4	+	6		c.886_splice	c.e6+2		IPW_uc001yxh.1_Splice_Site|IPW_uc001yxm.1_Splice_Site|IPW_uc001yxn.4_Splice_Site|IPW_uc001yxy.3_Splice_Site|IPW_uc001yyd.3_Splice_Site|SNORD116-23_uc001yyh.3_5'Flank|SNORD116-24_uc001yyj.3_5'Flank					Homo sapiens imprinted in Prader-Willi syndrome (non-protein coding) (IPW), non-coding RNA.																		ATCCCACAGGTTGGTAAATGT	0.493000														18			8		0	0	0.00307968	0	0
NCAPD2	9918	broad.mit.edu	37	12	6637358	6637358	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:6637358C>A	uc001qoo.2	+	24	3209	c.3163C>A	c.(3163-3165)Cag>Aag	p.Q1055K	NCAPD2_uc009zen.1_Missense_Mutation_p.Q927K|NCAPD2_uc010sfd.1_Missense_Mutation_p.Q1010K	NM_014865	NP_055680	Q15021	CND1_HUMAN	Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA.	1055					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CTGCGACTCCCAGCTTCGTCT	0.532000														136			49		4.44712e-29	1.02179e-28	0.00361006	1	0
ERCC6	2074	broad.mit.edu	37	10	50686467	50686467	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:50686467G>A	uc001jhs.4	-	10	2373	c.2219C>T	c.(2218-2220)cCa>cTa	p.P740L	ERCC6_uc009xod.3_5'Flank|ERCC6_uc010qgr.2_Missense_Mutation_p.P110L|ERCC6_uc001jhr.4_Missense_Mutation_p.P140L	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	740					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CAGTAGGTATGGATTTATGGT	0.388000								Direct reversal of damage;Nucleotide excision repair (NER)						89			41		0	0	0.0025221	0	0
ANK2	287	broad.mit.edu	37	4	114274972	114274972	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:114274972C>T	uc003ibe.4	+	37	5298	c.5198C>T	c.(5197-5199)tCa>tTa	p.S1733L	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.S1748L	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1700					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAAGGTAGTTCAGAAGAGTCA	0.408000														59			66		0	0	0.00361006	0	0
DSP	1832	broad.mit.edu	37	6	7583091	7583091	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:7583091C>T	uc003mxp.1	+	23	5875	c.5596C>T	c.(5596-5598)Cag>Tag	p.Q1866*	DSP_uc003mxq.1_Nonsense_Mutation_p.Q1267*|DSP_uc021yle.1_Nonsense_Mutation_p.Q1423*	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1866	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGACCTGAATCAGTGGAAGAC	0.453000														61			9		0	0	0.000274275	0	0
ZBTB4	57659	broad.mit.edu	37	17	7369619	7369619	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:7369619G>A	uc002ghc.4	-	2	752	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	ZBTB4_uc002ghd.4_Missense_Mutation_p.R168C	NM_001128833	NP_065950	Q9P1Z0	ZBTB4_HUMAN	Homo sapiens zinc finger and BTB domain containing 4 (ZBTB4), transcript variant 2, mRNA.	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CCCAGACGGCGCCCCAAAGCT	0.647000														8			10		0	0	0.00185496	0	0
KRTAP6-3	337968	broad.mit.edu	37	21	31964965	31964965	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:31964965C>T	uc002yom.3	+	0	207	c.201C>T	c.(199-201)tcC>tcT	p.S67S	KRTAP22-2_uc021wih.1_5'Flank	NM_181605	NP_853636			Homo sapiens keratin associated protein 6-3 (KRTAP6-3), mRNA.											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7)	10						gctatggctccttctgtggct	0.612000														12			6		0	0	0.00198382	0	0
NOS1	4842	broad.mit.edu	37	12	117725962	117725962	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:117725962C>T	uc001twn.2	-	4	1755	c.1044G>A	c.(1042-1044)agG>agA	p.R348R	NOS1_uc021ren.1_Silent_p.R12R|NOS1_uc021reo.1_Silent_p.R12R|NOS1_uc001twm.2_Silent_p.R348R	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	348					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CTTCAGGCCTCCTTGCATGCT	0.448000														41			17		0	0	0.000958276	0	0
ZNF148	7707	broad.mit.edu	37	3	124952124	124952124	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:124952124G>A	uc003ehx.4	-	8	1932	c.1446C>T	c.(1444-1446)aaC>aaT	p.N482N	SLC12A8_uc003ehw.4_Intron|ZNF148_uc003ehz.4_Silent_p.N482N|ZNF148_uc010hsa.3_Silent_p.N482N|ZNF148_uc003eia.4_Silent_p.N482N|ZNF148_uc003ehy.3_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	Homo sapiens zinc finger protein 148 (ZNF148), mRNA.	482					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						CCCTGCTGTTGTTACTTGCTG	0.453000														35			22		0	0	0.00152264	0	0
LTN1	26046	broad.mit.edu	37	21	30329142	30329142	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:30329142C>T	uc002ymr.2	-	15	3172	c.3159G>A	c.(3157-3159)atG>atA	p.M1053I		NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	1007							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CAATTAAGACCATTTTGCTCA	0.303000														20			5		0	0	0.00198382	0	0
STK19	8859	broad.mit.edu	37	6	31939975	31939975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:31939975C>T	uc003nyv.3	+	0	330	c.202C>T	c.(202-204)Cct>Tct	p.P68S	DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.3_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.2_Missense_Mutation_p.P68S|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.3_Missense_Mutation_p.P68S|STK19_uc010jtn.1_5'Flank	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	68						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						TGGGGCCCGGCCTGGCGGAGG	0.706000														19			8		0	0	0.00307968	0	0
SCARB2	950	broad.mit.edu	37	4	77100829	77100829	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:77100829G>A	uc003hju.2	-	3	809	c.453C>T	c.(451-453)ttC>ttT	p.F151F	SCARB2_uc011cbu.2_Intron	NM_005506	NP_005497	Q14108	SCRB2_HUMAN	Homo sapiens scavenger receptor class B, member 2 (SCARB2), transcript variant 1, mRNA.	151					cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			TCTCCCTGAGGAAGTGCACCT	0.502000											OREG0016231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		41			51		0	0	0.00361006	0	0
TSPAN17	26262	broad.mit.edu	37	5	176078761	176078761	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:176078761C>T	uc003met.3	+	2	374	c.145C>T	c.(145-147)Ctc>Ttc	p.L49F	TSPAN17_uc003mes.3_Intron|TSPAN17_uc003meu.3_Missense_Mutation_p.L49F|TSPAN17_uc003mew.3_Missense_Mutation_p.L49F	NM_012171	NP_036303	Q96FV3	TSN17_HUMAN	Homo sapiens tetraspanin 17 (TSPAN17), transcript variant 1, mRNA.	49						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGGGCGTTCTCTCGAACAT	0.632000														42			33		0	0	0.000953801	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396624	38396624	+	Silent	SNP	C	T	T	rs141592792		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:38396624C>T	uc022bgy.1	+	0	879	c.879C>T	c.(877-879)atC>atT	p.I293I	ALDH1B1_uc004aay.3_Silent_p.I293I	NM_000692	NP_000683	P30837	AL1B1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA.	293					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	p.I293I(2)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	GCCCCAGCATCGTGCTGGCCG	0.617000														38			25		0	0	0.001512	0	0
FLJ43860	389690	broad.mit.edu	37	8	142482967	142482967	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:142482967G>A	uc003ywi.2	-	14	1933	c.1852C>T	c.(1852-1854)Cac>Tac	p.H618Y	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	618							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TAGCCATTGTGGTTCAGGAAT	0.662000														15			6		0	0	0.00198382	0	0
A1CF	29974	broad.mit.edu	37	10	52575901	52575901	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:52575901C>T	uc001jjj.3	-	8	1194	c.1006G>A	c.(1006-1008)Gat>Aat	p.D336N	A1CF_uc010qho.2_Missense_Mutation_p.D344N|A1CF_uc010qhn.2_Missense_Mutation_p.D344N|A1CF_uc009xov.3_Missense_Mutation_p.D336N|A1CF_uc001jji.3_Missense_Mutation_p.D336N|A1CF_uc001jjh.3_Missense_Mutation_p.D344N	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	336					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GTGGTGGGATCATAAACTTGG	0.517000														17			4		0	0	0.000602214	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971187	21971187	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:21971187G>A	uc003zpk.3	-	1	477	c.171C>T	c.(169-171)gcC>gcT	p.A57A	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Silent_p.A57A|CDKN2A_uc003zpl.3_Missense_Mutation_p.P72S	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	57			A -> V (in pancreas carcinoma; somatic mutation; partial loss of CDK4 binding).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.?(45)|p.M53_R58del(6)|p.R58*(6)|p.A57V(5)|p.A57P(5)|p.A57_R58>V*(2)|p.M54fs*61(2)|p.A57fs*85(2)|p.A57T(2)|p.A57A(2)|p.S56fs*90(1)|p.S56N(1)|p.R58fs*59(1)|p.A57fs*62(1)|p.A57fs*63(1)|p.P113L(1)|p.R58fs*89(1)|p.0(1)|p.S56fs*63(1)|p.G55fs*86(1)|p.S56fs*64(1)|p.V28_V51del(1)|p.R58fs*61(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCGCCACTCGGGCGCTGCCCA	0.682000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				18			33		0	0	0.0024448	0	0
EVC2	132884	broad.mit.edu	37	4	5624544	5624544	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:5624544G>A	uc003gij.3	-	13	2275	c.2221C>T	c.(2221-2223)Ctt>Ttt	p.L741F	EVC2_uc003gik.3_Missense_Mutation_p.L661F|EVC2_uc011bwb.2_Missense_Mutation_p.L181F	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA.	741						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						AACAGCGAAAGGGTCAGGGTC	0.647000														71			23		0	0	0.00395357	0	0
ROR2	4920	broad.mit.edu	37	9	94486784	94486784	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:94486784G>A	uc004arj.2	-	8	2191	c.1992C>T	c.(1990-1992)atC>atT	p.I664I	ROR2_uc004ari.1_Silent_p.I524I	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	664	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGCCGTACATGATGGCCTCTG	0.592000														17			16		0	0	0.000566183	0	0
SMC1B	27127	broad.mit.edu	37	22	45757743	45757743	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:45757743C>T	uc003bgc.3	-	16	2736	c.2684G>A	c.(2683-2685)cGg>cAg	p.R895Q	SMC1B_uc003bgd.3_Missense_Mutation_p.R895Q	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	895					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AAACTTCTTCCGTTCCTCTTC	0.398000														131			6		0	0	0.00116845	0	0
LRRC41	10489	broad.mit.edu	37	1	46751383	46751383	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:46751383G>A	uc001cpn.3	-	3	1190	c.1146C>T	c.(1144-1146)gcC>gcT	p.A382A	LRRC41_uc010omb.2_Silent_p.A382A|LRRC41_uc001cpo.1_Silent_p.A382A	NM_006369	NP_006360	Q15345	LRC41_HUMAN	Homo sapiens leucine rich repeat containing 41 (LRRC41), mRNA.	382										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TAGGCTGTGGGGCTGAGCTAG	0.587000														103			51		0	0	0.00361006	0	0
KHDC1	80759	broad.mit.edu	37	6	73919663	73919663	+	RNA	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:73919663G>A	uc011dyl.1	-	7		c.1430C>T						Q4VXA5	KHDC1_HUMAN	Homo sapiens KH homology domain containing 1 (KHDC1), transcript variant 2, mRNA.							integral to membrane	RNA binding			large_intestine(1)|lung(4)|skin(1)	6						AGGGGATGTGGGCAAAGGCCA	0.498000														9			8		0	0	0.00307968	0	0
WNT2	7472	broad.mit.edu	37	7	116937720	116937720	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:116937720C>T	uc003viz.3	-	3	1099	c.799G>A	c.(799-801)Gac>Aac	p.D267N	WNT2_uc003vja.3_Missense_Mutation_p.D171N	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	267					Wnt receptor signaling pathway, calcium modulating pathway|atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TACACGAGGTCATTTTTCGTT	0.438000														67			28		0	0	0.00178596	0	0
TBC1D1	23216	broad.mit.edu	37	4	38020051	38020051	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:38020051C>T	uc003gtb.3	+	3	1317	c.959C>T	c.(958-960)tCc>tTc	p.S320F	TBC1D1_uc011byd.2_Missense_Mutation_p.S320F|TBC1D1_uc010ifd.3_Intron|TBC1D1_uc011byf.1_Missense_Mutation_p.S191F	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	320	PID.					nucleus	Rab GTPase activator activity	p.S320S(1)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						AAGGAGATATCCTTTTGCTCT	0.303000														38			23		0	0	0.00229938	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116061184	116061184	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:116061184C>T	uc001lbn.3	-	12	1772	c.1471G>A	c.(1471-1473)Gat>Aat	p.D491N	AFAP1L2_uc001lbo.3_Missense_Mutation_p.D491N|AFAP1L2_uc010qse.2_Missense_Mutation_p.D544N|AFAP1L2_uc001lbp.3_Missense_Mutation_p.D519N|AFAP1L2_uc001lbr.1_Missense_Mutation_p.D491N|AFAP1L2_uc001lbm.3_Missense_Mutation_p.D13N|AFAP1L2_uc010qsd.2_Missense_Mutation_p.D57N|AFAP1L2_uc001lbq.1_Missense_Mutation_p.D13N	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.	491					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	SH2 domain binding|SH3 domain binding|protein tyrosine kinase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GGCAGGCCATCGATGTAAGTG	0.612000														38			16		0	0	0.00074312	0	0
DNAH7	56171	broad.mit.edu	37	2	196746715	196746715	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:196746715C>T	uc002utj.4	-	36	5865	c.5764_splice	c.e36-1	p.G1922_splice		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1922					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTTCCTATTCCCTGTTTATA	0.338000														27			17		0	0	0.00074312	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30884430	30884430	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:30884430C>T	uc001rji.1	-	5	1658	c.907G>A	c.(907-909)Gat>Aat	p.D303N	CAPRIN2_uc001rjf.1_Missense_Mutation_p.D100N|CAPRIN2_uc001rjg.1_5'UTR|CAPRIN2_uc001rjh.1_Missense_Mutation_p.D303N|CAPRIN2_uc001rjk.4_Missense_Mutation_p.D303N|CAPRIN2_uc001rjj.1_5'UTR|CAPRIN2_uc001rjl.4_Missense_Mutation_p.D303N|CAPRIN2_uc001rjm.1_5'UTR|CAPRIN2_uc001rjn.1_5'UTR	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	Homo sapiens caprin family member 2 (CAPRIN2), transcript variant 1, mRNA.	303					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	RNA binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GACAGTAGATCCTTCAAGTGT	0.348000														42			4		0	0	0.00024832	0	0
PARP14	54625	broad.mit.edu	37	3	122405958	122405958	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:122405958C>T	uc003efq.4	+	2	412	c.353C>T	c.(352-354)cCa>cTa	p.P118L		NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GTTAAAGAACCAGGTAAAATC	0.363000														11			5		0	0	0.000602214	0	0
CSMD3	114788	broad.mit.edu	37	8	113267561	113267561	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:113267561G>A	uc003ynu.3	-	61	10117	c.9958C>T	c.(9958-9960)Cct>Tct	p.P3320S	CSMD3_uc003yns.3_Missense_Mutation_p.P2522S|CSMD3_uc003ynt.3_Missense_Mutation_p.P3280S|CSMD3_uc011lhx.2_Missense_Mutation_p.P3151S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3320	Sushi 26.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATATGAAAGGAAAATTGCAG	0.413000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				19			10		0	0	0.000673444	0	0
ZNF281	23528	broad.mit.edu	37	1	200377285	200377285	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:200377285G>A	uc001gve.3	-	1	1656	c.1549C>T	c.(1549-1551)Ctc>Ttc	p.L517F	ZNF281_uc001gvf.1_Missense_Mutation_p.L517F|ZNF281_uc001gvg.1_Missense_Mutation_p.L481F|ZNF281_uc021phb.1_Missense_Mutation_p.L517F	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	Homo sapiens zinc finger protein 281 (ZNF281), mRNA.	517					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						GTACTTTGGAGAAGACCAATG	0.398000														145			35		0	0	0.00170553	0	0
METTL18	92342	broad.mit.edu	37	1	169761910	169761910	+	Silent	SNP	G	A	A	rs34396097	byFrequency	TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:169761910G>A	uc001ggn.3	-	1	1205	c.927C>T	c.(925-927)ttC>ttT	p.F309F	C1orf112_uc001ggj.3_Intron|METTL18_uc021pen.1_Silent_p.F309F|C1orf112_uc001ggo.3_5'Flank|C1orf112_uc010plt.1_5'Flank|C1orf112_uc001ggp.3_5'Flank|C1orf112_uc001ggq.3_5'Flank	NM_033418	NP_219486	O95568	MET18_HUMAN	Homo sapiens methyltransferase like 18 (METTL18), mRNA.	309			F -> L (in dbSNP:rs34396097).			cytoplasm	protein methyltransferase activity			kidney(1)|large_intestine(3)|lung(4)	8						ACAGTCTAAGGAAAGTCTGGT	0.348000														32			32		0	0	0.001512	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786322	121786322	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:121786322G>A	uc003ksw.1	+	9	1986	c.1780G>A	c.(1780-1782)Ggg>Agg	p.G594R	SNCAIP_uc011cwl.1_Missense_Mutation_p.G152R|SNCAIP_uc003ksy.1_Missense_Mutation_p.G228R|SNCAIP_uc003ksx.1_Missense_Mutation_p.G641R|SNCAIP_uc003ksz.1_Missense_Mutation_p.G228R|SNCAIP_uc010jcu.2_Missense_Mutation_p.G190R|SNCAIP_uc011cwm.1_Missense_Mutation_p.G228R|SNCAIP_uc003kta.1_Missense_Mutation_p.G226R|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.G288R|SNCAIP_uc010jcx.1_Missense_Mutation_p.G534R|BC029465_uc003ktb.1_Non-coding_Transcript|SNCAIP_uc003ktc.1_Missense_Mutation_p.G110R	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	594					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGTCCAAGAGGGGATTCAGGT	0.478000														69			17		0	0	0.000566183	0	0
FREM2	341640	broad.mit.edu	37	13	39264404	39264404	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:39264404G>A	uc001uwv.3	+	0	3232	c.2923G>A	c.(2923-2925)Gaa>Aaa	p.E975K		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	975					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GACCAATGAGGAAACTGATGA	0.443000														67			8		0	0	0.000274275	0	0
PDE11A	50940	broad.mit.edu	37	2	178494141	178494141	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:178494141C>T	uc002ulq.3	-	19	3114	c.2796G>A	c.(2794-2796)agG>agA	p.R932R	PDE11A_uc002ulp.3_Silent_p.R488R|PDE11A_uc002ulr.3_Silent_p.R682R|PDE11A_uc010zfd.2_Silent_p.R123R|PDE11A_uc002uls.1_Silent_p.R574R|PDE11A_uc002ult.1_Silent_p.R682R|PDE11A_uc002ulu.1_Silent_p.R574R	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	932					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			AGGTTTAGTTCCTGTCTTCCT	0.483000									Primary Pigmented Nodular Adrenocortical Disease, Familial					51			32		0	0	0.00209593	0	0
DEFA6	1671	broad.mit.edu	37	8	6782385	6782385	+	Silent	SNP	C	T	T	rs61745836	byFrequency	TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:6782385C>T	uc003wqt.3	-	1	299	c.258G>A	c.(256-258)ggG>ggA	p.G86G		NM_001926	NP_001917	Q01524	DEF6_HUMAN	Homo sapiens defensin, alpha 6, Paneth cell-specific (DEFA6), mRNA.	86					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CAGTGCAGGTCCCATAGGAAT	0.428000														45			32		0	0	0.00327116	0	0
EPAS1	2034	broad.mit.edu	37	2	46611732	46611732	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:46611732C>T	uc002ruv.3	+	15	3056	c.2546C>T	c.(2545-2547)cCc>cTc	p.P849L	EPAS1_uc002ruw.3_Missense_Mutation_p.P315L	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	849	CTAD.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GTGAACGTGCCCGTGCTGGGA	0.632000														39			13		0	0	0.00185496	0	0
YEATS4	8089	broad.mit.edu	37	12	69764559	69764559	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:69764559C>T	uc001sux.3	+	4	628	c.407C>T	c.(406-408)tCa>tTa	p.S136L		NM_006530	NP_006521	O95619	YETS4_HUMAN	Homo sapiens YEATS domain containing 4 (YEATS4), mRNA.	136					histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth	NuA4 histone acetyltransferase complex|nuclear matrix	DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			ACAGTGGTTTCAGAGTTCTAT	0.328000														24			16		0	0	0.000958276	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789461	6789461	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:6789461G>A	uc001meq.1	-	0	728	c.728C>T	c.(727-729)tCc>tTc	p.S243F		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AG, member 2 (OR2AG2), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AATCAGGTGGGAAGAGCAGGT	0.498000														33			9		0	0	0.000442599	0	0
OTOA	146183	broad.mit.edu	37	16	21721277	21721277	+	Silent	SNP	G	A	A	rs143326637	byFrequency	TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:21721277G>A	uc002djh.3	+	11	1174	c.1173G>A	c.(1171-1173)tcG>tcA	p.S391S	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Silent_p.S312S|OTOA_uc002dji.3_Silent_p.S67S|OTOA_uc010vbk.2_Silent_p.S39S	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	405					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		p.L390L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GTTCTTTGTCGGATGCAGTTG	0.547000														37			24		0	0	0.000878237	0	0
PSD	5662	broad.mit.edu	37	10	104175790	104175790	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:104175790C>T	uc001kvg.1	-	2	1268	c.741G>A	c.(739-741)ttG>ttA	p.L247L	PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Silent_p.L247L	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	247					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TGGGGGGGTCCAAGGAGCCAT	0.612000														11			5		0	0	0.000602214	0	0
EPB41L2	2037	broad.mit.edu	37	6	131188660	131188660	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:131188660G>A	uc003qch.2	-	15	2851	c.2669C>T	c.(2668-2670)tCc>tTc	p.S890F	EPB41L2_uc003qce.1_Missense_Mutation_p.S268F|EPB41L2_uc003qcf.1_Non-coding_Transcript|EPB41L2_uc010kfl.2_Missense_Mutation_p.S737F|EPB41L2_uc003qcg.1_Missense_Mutation_p.S632F|EPB41L2_uc003qci.3_Missense_Mutation_p.S737F|EPB41L2_uc011eby.2_Intron|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc003qcd.1_Missense_Mutation_p.S51F	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	890	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TTCCTTGGTGGAGATTTCTGT	0.428000														60			15		0	0	0.00316338	0	0
OR2S2	56656	broad.mit.edu	37	9	35958057	35958057	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:35958057G>A	uc011lpi.2	-	0	95	c.39C>T	c.(37-39)ttC>ttT	p.F13F		NM_019897	NP_063950	Q9NQN1	OR2S1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily S, member 2 (OR2S2), mRNA.	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			TCAGGAGAACGAACCCCATCA	0.537000														30			20		0	0	0.00188189	0	0
SERPINI1	5274	broad.mit.edu	37	3	167510533	167510533	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:167510533C>T	uc003ffa.4	+	3	835	c.637C>T	c.(637-639)Caa>Taa	p.Q213*	SERPINI1_uc003ffb.4_Nonsense_Mutation_p.Q213*	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	213					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						AAGTGAAGTCCAAATTCCAAT	0.338000														50			17		0	0	0.00278032	0	0
LMTK2	22853	broad.mit.edu	37	7	97833295	97833295	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:97833295C>T	uc003upd.2	+	12	4573	c.4280C>T	c.(4279-4281)cCt>cTt	p.P1427L		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	1427					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TCCCCAGATCCTTTTATGTCA	0.507000														113			80		0	0	0.00361006	0	0
SLC9C1	285335	broad.mit.edu	37	3	111927047	111927047	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:111927047T>A	uc003dyu.3	-	15	2186	c.1964A>T	c.(1963-1965)tAt>tTt	p.Y655F	SLC9C1_uc011bhu.2_Intron|SLC9C1_uc010hqc.3_Missense_Mutation_p.Y607F	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	655	Ion transport-like.				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										CTCTAGAATATAAAGTGTAAG	0.323000														109			45		0	0	0.00361006	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140221363	140221363	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140221363C>T	uc003lhs.2	+	0	457	c.457C>T	c.(457-459)Ccg>Tcg	p.P153S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.P153S	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	168	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTCGGTTTCCGCTAGAGGG	0.478000														79			16		0	0	0.00316338	0	0
PRKCI	5584	broad.mit.edu	37	3	169977775	169977775	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:169977775C>T	uc003fgs.2	+	2	480	c.242C>T	c.(241-243)tCa>tTa	p.S81L		NM_002740	NP_002731	P41743	KPCI_HUMAN	Homo sapiens protein kinase C, iota (PRKCI), mRNA.	81	Interaction with PARD6A.|OPR.|Regulatory domain.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TGTACAGTATCATCTCAGTTG	0.338000														58			32		0	0	0.00148497	0	0
SF3A2	8175	broad.mit.edu	37	19	2243485	2243485	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:2243485A>G	uc002lvg.3	+	1	190	c.68A>G	c.(67-69)aAc>aGc	p.N23S		NM_007165	NP_009096	Q15428	SF3A2_HUMAN	Homo sapiens splicing factor 3a, subunit 2, 66kDa (SF3A2), mRNA.	23					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCGAGAGCAACCGTGACCGC	0.682000														47			9		0	0	0.000274275	0	0
CD163	9332	broad.mit.edu	37	12	7653894	7653894	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:7653894C>T	uc001qsz.3	-	2	426	c.298G>A	c.(298-300)Gcc>Acc	p.A100T	CD163_uc001qta.3_Missense_Mutation_p.A100T|CD163_uc009zfw.2_Missense_Mutation_p.A100T	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	100	SRCR 1.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CATCCAGGGGCTTTGATAGCA	0.498000														54			7		0	0	0.00198382	0	0
ACTR3B	57180	broad.mit.edu	37	7	152551617	152551617	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:152551617C>T	uc003wle.1	+	11	1353	c.1236C>T	c.(1234-1236)ccC>ccT	p.P412P	ACTR3B_uc003wlf.1_Silent_p.P342P|ACTR3B_uc003wlg.1_Silent_p.P324P|ACTR3B_uc011kvp.1_Silent_p.P324P	NM_020445	NP_065178	Q9P1U1	ARP3B_HUMAN	Homo sapiens ARP3 actin-related protein 3 homolog B (yeast) (ACTR3B), transcript variant 1, mRNA.	412					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	ATP binding|actin binding			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		GCCACAACCCCGTCTTTGGAG	0.562000														66			32		0	0	0.00148497	0	0
SELPLG	6404	broad.mit.edu	37	12	109017754	109017754	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:109017754C>T	uc010sxe.2	-	1	555	c.378G>A	c.(376-378)ggG>ggA	p.G126G	SELPLG_uc001tni.3_Silent_p.G110G|SELPLG_uc021rdm.1_Silent_p.G110G|SELPLG_uc001tnh.3_Silent_p.G110G	NM_001206609	NP_001193538	Q14242	SELPL_HUMAN	Homo sapiens selectin P ligand (SELPLG), transcript variant 1, mRNA.	110	12 X 10 AA tandem repeats.				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						TGGACAGGTTCCCCATGTTGG	0.607000														56			10		0	0	0.000673444	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140221031	140221031	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140221031G>A	uc003lhs.2	+	0	125	c.125G>A	c.(124-126)gGc>gAc	p.G42D	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.G42D	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	55					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAAACACGGCACCTTCGTG	0.672000														61			10		0	0	0.000978159	0	0
SEMA3G	56920	broad.mit.edu	37	3	52475391	52475391	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:52475391C>T	uc003dea.1	-	6	702	c.702G>A	c.(700-702)gaG>gaA	p.E234E		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	234	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GGTCAGAGTTCTCAGGGATCC	0.627000														30			17		0	0	0.00152264	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1779566	1779566	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:1779566C>T	uc010uvl.2	+	3	709	c.589C>T	c.(589-591)Ctg>Ttg	p.L197L	MAPK8IP3_uc002cmi.1_Silent_p.L197L|MAPK8IP3_uc002cmj.1_Non-coding_Transcript|MAPK8IP3_uc002cmk.3_Silent_p.L197L|MAPK8IP3_uc002cml.3_Silent_p.L197L|MAPK8IP3_uc021tah.1_Silent_p.L197L	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	197					vesicle-mediated transport	Golgi membrane	MAP-kinase scaffold activity|kinesin binding|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CGAGAGCAGCCTGCcggggcg	0.682000														13			6		0	0	0.00198382	0	0
RIMBP2	23504	broad.mit.edu	37	12	130919319	130919319	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:130919319G>A	uc001uil.2	-	10	2378	c.2162C>T	c.(2161-2163)tCg>tTg	p.S721L	RIMBP2_uc001uim.3_Missense_Mutation_p.S629L	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	721						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GTCGTCCACCGAGGCGCCCCT	0.657000														77			20		0	0	0.00152264	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84518229	84518229	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:84518229G>A	uc010ffz.1	+	0	424	c.287G>A	c.(286-288)cGa>cAa	p.R96Q						Homo sapiens FUN14 domain containing 2 pseudogene 2 (FUNDC2P2), non-coding RNA.																		GATTGGCAACGAGTGGAGAAG	0.483000														33			26		0	0	0.00332997	0	0
VCPIP1	80124	broad.mit.edu	37	8	67578269	67578269	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:67578269G>A	uc003xwn.3	-	0	1184	c.925C>T	c.(925-927)Ctc>Ttc	p.L309F	SGK3_uc003xwp.3_5'Flank|C8orf44_uc003xwo.2_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Homo sapiens valosin containing protein (p97)/p47 complex interacting protein 1 (VCPIP1), mRNA.	309	OTU.				protein ubiquitination	Golgi stack|endoplasmic reticulum	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		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)			ATGCCACTGAGGGAATCTAAC	0.473000														74			30		0	0	0.0024448	0	0
WDR34	89891	broad.mit.edu	37	9	131396564	131396564	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:131396564A>T	uc004bvq.1	-	7	1437	c.1313T>A	c.(1312-1314)cTg>cAg	p.L438Q		NM_052844	NP_443076	Q96EX3	WDR34_HUMAN	Homo sapiens WD repeat domain 34 (WDR34), mRNA.	438						cytoplasm				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						CACAGCAAACAGATACTTGAG	0.597000														29			39		0	0	0.0025221	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870614	51870614	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:51870614G>A	uc002xwo.3	+	1	1504	c.617G>A	c.(616-618)gGg>gAg	p.G206E	TSHZ2_uc021wex.1_Missense_Mutation_p.G203E	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	206					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C205Y(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAGATGTGCGGGACTGTGTTC	0.582000														36			21		0	0	0.00278032	0	0
OR5D18	219438	broad.mit.edu	37	11	55587908	55587908	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:55587908C>T	uc010rin.2	+	0	803	c.803C>T	c.(802-804)tCc>tTc	p.S268F		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCCAAAAACTCCAGGCACACA	0.507000														30			5		0	0	0.00116845	0	0
CCDC60	160777	broad.mit.edu	37	12	119909830	119909830	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:119909830G>A	uc001txe.3	+	2	667	c.202G>A	c.(202-204)Gga>Aga	p.G68R	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	68								p.G68E(1)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GATAGGCCGTGGATATTTTGC	0.468000														71			45		0	0	0.00361006	0	0
SYTL4	94121	broad.mit.edu	37	X	99942167	99942168	+	Missense_Mutation	DNP	CA	TT	TT			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:99942167_99942168CA>TT	uc004egd.4	-	12	1436_1437	c.1080_1081TG>AA	c.(1078-1083)attgcc>atAAcc	p.A361T	SYTL4_uc010nnb.3_Missense_Mutation_p.A33T|SYTL4_uc010nnc.3_Missense_Mutation_p.A361T|SYTL4_uc004ege.4_Missense_Mutation_p.A361T|SYTL4_uc004egf.4_Missense_Mutation_p.A361T|SYTL4_uc004egg.4_3'UTR	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	361	C2 1.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGGAAAAGGCAATCCTGCCAG	0.495000														13			35		0	0	6.4e-05	0	0
DNAH5	1767	broad.mit.edu	37	5	13901560	13901560	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:13901560C>T	uc003jfd.2	-	13	1895	c.1853G>A	c.(1852-1854)cGa>cAa	p.R618Q		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	618	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R618Q(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGGCTGGTTTCGAGCCAGAGG	0.473000									Kartagener syndrome					20			15		0	0	0.00316338	0	0
C7	730	broad.mit.edu	37	5	40934532	40934532	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:40934532G>A	uc003jmh.3	+	3	358	c.244G>A	c.(244-246)Gag>Aag	p.E82K	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	82					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				ATGTCCAACAGAGGAGGGATG	0.468000														54			7		0	0	0.00307968	0	0
MUC17	140453	broad.mit.edu	37	7	100680237	100680237	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:100680237C>T	uc003uxp.1	+	2	5593	c.5540C>T	c.(5539-5541)tCa>tTa	p.S1847L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1847	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCAGTCAGTTCATCTCCTACA	0.512000														157			60		0	0	0.00361006	0	0
FBP2	8789	broad.mit.edu	37	9	97321385	97321385	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:97321385C>T	uc004auv.3	-	6	922	c.855G>A	c.(853-855)gtG>gtA	p.V285V	BC080653_uc004aus.1_Non-coding_Transcript|BC080653_uc004aut.1_Non-coding_Transcript	NM_003837	NP_003828	O00757	F16P2_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 2 (FBP2), mRNA.	285					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				TGATGTAGGCCACGGGATTGC	0.587000														21			23		0	0	0.00332997	0	0
RBMY1A3P	286557	broad.mit.edu	37	Y	9154673	9154673	+	RNA	SNP	T	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrY:9154673T>A	uc004frl.1	-	3		c.424A>T								Homo sapiens RNA binding motif protein, Y-linked, family 1, member A3 pseudogene (RBMY1A3P), non-coding RNA.																		ATAACTCATCTTGAGATCAGG	0.383000														26			64		0	0	0.00361006	0	0
FUT1	2523	broad.mit.edu	37	19	49254333	49254333	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:49254333G>A	uc002pkk.3	-	3	1181	c.206C>T	c.(205-207)tCc>tTc	p.S69F	FUT1_uc021uwy.1_Missense_Mutation_p.S69F	NM_000148	NP_000139	P19526	FUT1_HUMAN	Homo sapiens fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) (FUT1), mRNA.	69					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		CTGGGGACAGGAAGAGGAGGC	0.637000														26			11		0	0	0.000673444	0	0
PCDHB9	56127	broad.mit.edu	37	5	140569213	140569213	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140569213C>T	uc003liw.1	+	1	2319	c.2319C>T	c.(2317-2319)ctC>ctT	p.L773L	PCDHB10_uc003lix.3_5'Flank	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	774					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCCCACCTCCCGCCCCATA	0.488000														57			57		0	0	0.00361006	0	0
FLT1	2321	broad.mit.edu	37	13	28971101	28971101	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:28971101G>A	uc001usb.3	-	11	1941	c.1656C>T	c.(1654-1656)atC>atT	p.I552I	FLT1_uc010aar.1_Silent_p.I552I|FLT1_uc001usc.3_Silent_p.I552I|FLT1_uc010aas.1_Non-coding_Transcript|FLT1_uc010aat.1_Silent_p.I35I	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	552	Ig-like C2-type 5.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GCTTACCTGTGATATAAAAGC	0.398000														21			5		0	0	0.000602214	0	0
CYYR1	116159	broad.mit.edu	37	21	27945215	27945215	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:27945215C>T	uc002yme.3	-	0	367	c.45G>A	c.(43-45)ccG>ccA	p.P15P	CYYR1_uc002ymd.3_Silent_p.P15P|CYYR1_uc011ack.2_Non-coding_Transcript	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	Homo sapiens cysteine/tyrosine-rich 1 (CYYR1), mRNA.	15						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GGACCAACTTCGGAAGCAAGA	0.662000														44			15		0	0	0.000566183	0	0
ATP6V0D2	245972	broad.mit.edu	37	8	87125949	87125949	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:87125949C>T	uc003ydp.1	+	1	211	c.142C>T	c.(142-144)Cat>Tat	p.H48Y		NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 (ATP6V0D2), mRNA.	48					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding	p.H48Y(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						CCTGAAAATTCATCTCCAGAC	0.323000														106			35		0	0	0.00111076	0	0
CACNA1H	8912	broad.mit.edu	37	16	1256116	1256116	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:1256116C>T	uc002cks.3	+	11	2864	c.2616C>T	c.(2614-2616)atC>atT	p.I872I	CACNA1H_uc002ckt.3_Silent_p.I872I	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	872					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TCTGGGAGATCGTGGGGCAGG	0.706000														1			3		0	0	6.4e-05	0	0
SPARCL1	8404	broad.mit.edu	37	4	88400633	88400633	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:88400633C>T	uc010ikm.3	-	10	2487	c.1915G>A	c.(1915-1917)Gat>Aat	p.D639N	SPARCL1_uc011cdc.2_Missense_Mutation_p.D514N|SPARCL1_uc003hqs.4_Missense_Mutation_p.D639N|SPARCL1_uc011cdd.2_Missense_Mutation_p.D514N	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN	Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.	639	EF-hand.				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		ATGTGCTTATCCTTGTTGGGG	0.483000														38			38		0	0	0.00128727	0	0
TECPR2	9895	broad.mit.edu	37	14	102963977	102963977	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:102963977C>T	uc001ylw.2	+	18	4228	c.4002C>T	c.(4000-4002)gcC>gcT	p.A1334A	TECPR2_uc010txx.2_Silent_p.A497A	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	1334							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GAGACCTCGCCCGGCGGTACG	0.677000														7			3		0	0	0.00024832	0	0
NMS	129521	broad.mit.edu	37	2	101093845	101093845	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:101093845C>T	uc002tan.1	+	4	237	c.230C>T	c.(229-231)aCt>aTt	p.T77I		NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN	Homo sapiens neuromedin S (NMS), mRNA.	77					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						TACTCCAGAACTCAGGAGGCA	0.393000														17			14		0	0	0.000566183	0	0
SRL	6345	broad.mit.edu	37	16	4242630	4242630	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:4242630C>T	uc002cvz.4	-	5	959	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	SRL_uc002cvy.4_Non-coding_Transcript	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	Homo sapiens sarcalumenin (SRL), mRNA.	775	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						TTCAGGTCTTCTAGGAGGGAG	0.562000														115			50		0	0	0.00361006	0	0
MUC16	94025	broad.mit.edu	37	19	9082925	9082925	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:9082925C>T	uc002mkp.3	-	0	9094	c.8890G>A	c.(8890-8892)Gga>Aga	p.G2964R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2965	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGGCAGATCCCTCAGGGGTT	0.502000														55			38		0	0	0.00111076	0	0
HHATL	57467	broad.mit.edu	37	3	42740220	42740221	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:42740220_42740221CC>TT	uc003clw.3	-	5	609_610	c.462_463GG>AA	c.(460-465)atggac>atAAac	p.154_155MD>IN	HHATL_uc003clx.3_Missense_Mutation_p.154_155MD>IN	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	Homo sapiens hedgehog acyltransferase-like (HHATL), transcript variant 1, mRNA.	154					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		ATTAGGGGGTCCATCTTGAAGG	0.574000														105			47		0	0	6.4e-05	0	0
RASAL2	9462	broad.mit.edu	37	1	178442335	178442335	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:178442335C>T	uc001glq.3	+	17	4568	c.3804C>T	c.(3802-3804)tcC>tcT	p.S1268S	RASAL2_uc001glr.3_Silent_p.S1127S|RASAL2_uc009wxc.3_Missense_Mutation_p.H652Y	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	1127					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CCAAGCTTTCCATCACGGAGA	0.542000														27			39		0	0	0.0025221	0	0
PNMA5	114824	broad.mit.edu	37	X	152158808	152158808	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:152158808G>A	uc022chn.1	-	0	1335	c.1335C>T	c.(1333-1335)ccC>ccT	p.P445P	PNMA5_uc010ntx.3_Silent_p.P445P|PNMA5_uc010ntw.3_Silent_p.P445P|PNMA5_uc004fgy.4_Silent_p.P445P|PNMA5_uc022chm.1_Silent_p.P445P	NM_052926	NP_443158	Q96PV4	PNMA5_HUMAN	Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA.	445					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTTTCCCAGGGCTTGGGAT	0.597000														18			31		0	0	0.00375469	0	0
MSRA	4482	broad.mit.edu	37	8	10159066	10159066	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:10159066C>T	uc003wsx.3	+	3	551	c.354C>T	c.(352-354)gtC>gtT	p.V118V	MSRA_uc011kwx.2_Silent_p.V78V|MSRA_uc011kwy.1_Silent_p.V75V|MSRA_uc003wsy.3_Silent_p.V52V|MSRA_uc003wsz.3_Silent_p.V75V	NM_012331	NP_001186658	Q9UJ68	MSRA_HUMAN	Homo sapiens methionine sulfoxide reductase A (MSRA), transcript variant 1, mRNA.	118					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	ATGCAGAAGTCGTCCGAGTGG	0.428000														57			25		0	0	0.00127121	0	0
HLA-C	3107	broad.mit.edu	37	6	31322884	31322884	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:31322884C>T	uc003nth.2	-	5	1066	c.1012_splice	c.e5+1	p.G338_splice	HLA-C_uc003ntf.2_Intron|HLA-C_uc003ntg.1_Splice_Site_p.G217_splice|HLA-C_uc003nti.1_Intron	NM_005514	NP_005505	Q9TNN7	1C05_HUMAN	Homo sapiens major histocompatibility complex, class I, B (HLA-B), mRNA.	339					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CCTTCCCTACCTGAACTCTTC	0.582000														34			15		0	0	0.00074312	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52002866	52002866	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:52002866G>A	uc002pwx.1	-	2	969	c.913C>T	c.(913-915)Ccc>Tcc	p.P305S	SIGLEC12_uc002pww.1_Missense_Mutation_p.P187S|SIGLEC12_uc010eoy.1_Missense_Mutation_p.P32S	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	305	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GTGATCGTGGGGGGCGTCCCC	0.662000														40			16		0	0	0.00074312	0	0
SRPK1	6732	broad.mit.edu	37	6	35838079	35838079	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:35838079T>C	uc003olj.3	-	9	1094	c.970A>G	c.(970-972)Aaa>Gaa	p.K324E	SRPK1_uc003olh.3_Missense_Mutation_p.K217E|SRPK1_uc003oli.3_Missense_Mutation_p.K217E|SRPK1_uc011dtg.2_Missense_Mutation_p.K308E	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN	Homo sapiens SRSF protein kinase 1 (SRPK1), transcript variant 1, mRNA.	324	Protein kinase.				RNA splicing|cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						TGGGTCATTTTATTAGGTGGG	0.368000														22			16		0	0	0.00121646	0	0
FOXP1	27086	broad.mit.edu	37	3	71247436	71247436	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:71247436G>A	uc003dol.3	-	1	420	c.97C>T	c.(97-99)Cgg>Tgg	p.R33W	FOXP1_uc003dom.3_Missense_Mutation_p.R33W|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_Missense_Mutation_p.R33W|FOXP1_uc003doo.3_Missense_Mutation_p.R33W|FOXP1_uc003dop.3_Missense_Mutation_p.R33W|FOXP1_uc021xao.1_Missense_Mutation_p.R33W|FOXP1_uc003doq.1_Missense_Mutation_p.R33W|FOXP1_uc003dos.3_Missense_Mutation_p.R33W	NM_001244814	NP_001231743	Q9H334	FOXP1_HUMAN	Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA.	33					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CGCCCCTCCCGAAGACCGCCG	0.607000			T	PAX5	ALL									123			56		0	0	0.00361006	0	0
MAP4K1	11184	broad.mit.edu	37	19	39096813	39096813	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:39096813C>T	uc002oix.1	-	17	1308	c.1200_splice	c.e17+1	p.K400_splice	MAP4K1_uc002oiy.1_Splice_Site_p.K400_splice|MAP4K1_uc010xug.2_Splice_Site_p.K62_splice	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.	400					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGGGCCTTACCTTGGGGGGAA	0.642000														16			7		0	0	0.000442599	0	0
TMEM37	140738	broad.mit.edu	37	2	120194569	120194569	+	Silent	SNP	G	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:120194569G>T	uc002tly.3	+	1	160	c.126G>T	c.(124-126)tcG>tcT	p.S42S		NM_183240	NP_899063	Q8WXS4	CCGL_HUMAN	Homo sapiens transmembrane protein 37 (TMEM37), mRNA.	42						integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						TCCTGTCCTCGGTCTCCATTT	0.607000														100			5		0.00307968	0.00694368	0.00307968	1	0
ADAM30	11085	broad.mit.edu	37	1	120437739	120437739	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:120437739C>T	uc001eij.3	-	0	1409	c.1221G>A	c.(1219-1221)gtG>gtA	p.V407V		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	407	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CATTGTCCTCCACAATTTTGT	0.403000														845			32		0	0	0.0024448	0	0
PAX8	7849	broad.mit.edu	37	2	113993096	113993096	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:113993096G>A	uc010yxt.2	-	8	1128	c.962C>T	c.(961-963)cCt>cTt	p.P321L	PAX8_uc010yxu.2_Intron|PAX8_uc002tjm.3_Intron|PAX8_uc002tjn.3_Intron|LOC654433_uc002tjp.2_5'Flank|LOC654433_uc002tjq.4_5'Flank|LOC654433_uc010fks.3_5'Flank|LOC654433_uc010fkt.3_5'Flank|LOC654433_uc002tjr.4_5'Flank	NM_003466	NP_003457	Q06710	PAX8_HUMAN	Homo sapiens paired box 8 (PAX8), transcript variant PAX8A, mRNA.	321	Ser-rich.				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric S-shaped body morphogenesis|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						TAAAGAGGAAGGGGTGGAGCT	0.597000			T	PPARG	follicular thyroid		Thyroid dysgenesis							26			5		0	0	0.00116845	0	0
LOC554223	554223	broad.mit.edu	37	6	29760053	29760053	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:29760053G>A	uc003nnt.3	+	0	371	c.269G>A	c.(268-270)gGg>gAg	p.G90E	HCG4_uc003nns.3_Non-coding_Transcript|LOC554223_uc010jrm.1_Silent_p.G54G	NM_001207043	NP_001193972	Q86V94	Q86V94_HUMAN	Homo sapiens histocompatibility antigen-related (LOC554223), mRNA.	90					antigen processing and presentation|immune response	MHC class I protein complex											CTGCTCTCGGGGGCCCTGGTC	0.692000														17			4		0	0	0.00198382	0	0
SPRY1	10252	broad.mit.edu	37	4	124323569	124323569	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:124323569C>T	uc003ifa.3	+	1	1010	c.823C>T	c.(823-825)Cct>Tct	p.P275S	SPRY1_uc003ifb.3_Missense_Mutation_p.P275S|SPRY1_uc021xro.1_Missense_Mutation_p.P275S	NM_199327	NP_955359	O43609	SPY1_HUMAN	Homo sapiens sprouty homolog 1, antagonist of FGF signaling (Drosophila) (SPRY1), transcript variant 2, mRNA.	275	Cys-rich.|SPR.				epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						CTGTTATCCTCCTGCTAAAGG	0.458000														22			25		0	0	0.00278032	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883626	228883626	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:228883626C>T	uc002vpq.2	-	6	1991	c.1944G>A	c.(1942-1944)atG>atA	p.M648I	SPHKAP_uc002vpp.2_Missense_Mutation_p.M648I|SPHKAP_uc010zlx.1_Missense_Mutation_p.M648I	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	648						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AAGCAGTTTCCATGATTCTCC	0.468000														61			16		0	0	0.00400662	0	0
PRB2	653247	broad.mit.edu	37	12	11546329	11546329	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:11546329C>T	uc010shk.1	-	2	718	c.683G>A	c.(682-684)gGa>gAa	p.G228E		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTTGTTGTCTCCTTGTGGGGG	0.612000														132			100		0	0	0.00361006	0	0
CUBN	8029	broad.mit.edu	37	10	17085910	17085910	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:17085910G>A	uc001ioo.3	-	25	3797	c.3745C>T	c.(3745-3747)Cgt>Tgt	p.R1249C		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	1249	CUB 7.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCACTAGAACGAATAAGAGGG	0.428000														29			9		0	0	0.000274275	0	0
TTLL7	79739	broad.mit.edu	37	1	84399432	84399432	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:84399432G>A	uc001djc.3	-	8	1302	c.906C>T	c.(904-906)acC>acT	p.T302T	TTLL7_uc001djb.3_Non-coding_Transcript|TTLL7_uc001djd.3_Non-coding_Transcript|TTLL7_uc001dje.3_Non-coding_Transcript|TTLL7_uc001djf.3_Non-coding_Transcript|TTLL7_uc001djg.3_Non-coding_Transcript	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA.	302	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		CTACAATCAGGGTCTTTACCA	0.438000														22			8		0	0	0.00307968	0	0
GALNT13	114805	broad.mit.edu	37	2	155102466	155102466	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:155102466G>A	uc002tyt.4	+	4	932	c.828G>A	c.(826-828)agG>agA	p.R276R	GALNT13_uc002tyr.4_Silent_p.R276R|GALNT13_uc010foc.1_Silent_p.R95R|GALNT13_uc010fod.3_Silent_p.R29R	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	276						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AAATGGACAGGAGGAAAGGAG	0.373000														10			3		0	0	6.4e-05	0	0
HEPH	9843	broad.mit.edu	37	X	65413379	65413379	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:65413379G>A	uc011moz.2	+	7	1567	c.1430G>A	c.(1429-1431)cGa>cAa	p.R477Q	HEPH_uc004dwn.3_Missense_Mutation_p.R426Q|HEPH_uc004dwo.3_Missense_Mutation_p.R156Q|HEPH_uc010nkr.3_Missense_Mutation_p.R426Q|HEPH_uc011mpa.2_Missense_Mutation_p.R426Q	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	423	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGCTCCAGCCGAATTGGGGGC	0.398000														9			13		0	0	0.00244969	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140736306	140736306	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140736306C>T	uc003ljq.2	+	0	1539	c.1539C>T	c.(1537-1539)atC>atT	p.I513I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Silent_p.I513I	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	515	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATACAGGGATCCTATATGCTC	0.522000														63			55		0	0	0.00361006	0	0
FRS2	10818	broad.mit.edu	37	12	69965066	69965066	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:69965066C>T	uc001suy.3	+	7	774	c.264C>T	c.(262-264)gcC>gcT	p.A88A	FRS2_uc001suz.3_Silent_p.A88A|FRS2_uc009zrj.3_Silent_p.A88A|FRS2_uc009zrk.3_Silent_p.A88A	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 2 (FRS2), transcript variant 1, mRNA.	88	IRS-type PTB.				G-protein coupled receptor protein signaling pathway|activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GAATCTTTGCCTTTAAGTGTG	0.308000											OREG0021986	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		36			9		0	0	0.00185496	0	0
OCLN	100506658	broad.mit.edu	37	5	68805231	68805231	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:68805231C>T	uc003jwu.3	+	2	750	c.314C>T	c.(313-315)cCt>cTt	p.P105L	OCLN_uc003jwv.4_Missense_Mutation_p.P105L|OCLN_uc021xzq.1_Intron|OCLN_uc021xzr.1_Non-coding_Transcript|OCLN_uc021xzs.1_Intron|OCLN_uc021xzt.1_Intron	NM_002538	NP_001192184	Q16625	OCLN_HUMAN	Homo sapiens occludin (OCLN), transcript variant 1, mRNA.	105	Gly/Tyr-rich.|MARVEL.				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GTAGGCTACCCTTATGGAGGA	0.507000														51			58		0	0	0.00361006	0	0
TTN	7273	broad.mit.edu	37	2	179440898	179440898	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:179440898C>T	uc021vsy.1	-	274	62482	c.62257G>A	c.(62257-62259)Gat>Aat	p.D20753N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D14448N|TTN_uc021vta.1_Missense_Mutation_p.D14381N|TTN_uc021vtb.1_Missense_Mutation_p.D14256N|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21680	Fibronectin type-III 50.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACACCTGCATCGTTGATGGCA	0.458000														29			6		0	0	0.00116845	0	0
ADAM30	11085	broad.mit.edu	37	1	120437582	120437582	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:120437582C>T	uc001eij.3	-	0	1566	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	460	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TCATTTCCTTCCTGCCTACAC	0.463000														375			210		0	0	0.00361006	0	0
BMP10	27302	broad.mit.edu	37	2	69098402	69098402	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:69098402G>A	uc002sez.1	-	0	248	c.89C>T	c.(88-90)tCt>tTt	p.S30F		NM_014482	NP_055297	O95393	BMP10_HUMAN	Homo sapiens bone morphogenetic protein 10 (BMP10), mRNA.	30					BMP signaling pathway|Notch signaling pathway|activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	Z disc|cell surface|extracellular space	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TTCCAGAGGAGACTGCTCTAG	0.507000														45			7		0	0	0.00198382	0	0
CKAP2L	150468	broad.mit.edu	37	2	113514565	113514565	+	Missense_Mutation	SNP	G	A	A	rs76184593	by1000genomes	TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:113514565G>A	uc002tie.2	-	3	462	c.383C>T	c.(382-384)tCg>tTg	p.S128L	CKAP2L_uc002tif.2_5'UTR|CKAP2L_uc010yxp.1_5'UTR|CKAP2L_uc010yxq.1_5'UTR	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.	128						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TGTTGTGGACGATCCAGCTTC	0.413000														86			68		0	0	0.00361006	0	0
C4orf22	255119	broad.mit.edu	37	4	81884756	81884756	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:81884756G>A	uc010ijp.3	+	6	792	c.743G>A	c.(742-744)aGg>aAg	p.R248K	C4orf22_uc003hmf.3_Missense_Mutation_p.R231K	NM_001206997	NP_001193926	Q6V702	CD022_HUMAN	Homo sapiens chromosome 4 open reading frame 22 (C4orf22), transcript variant 1, mRNA.	231										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						ATTTCCAGAAGGAAGACTTAA	0.348000														6			6		0	0	0.00307968	0	0
SYNPO	11346	broad.mit.edu	37	5	150029242	150029242	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:150029242C>T	uc003lsn.3	+	2	2511	c.2137C>T	c.(2137-2139)Ccc>Tcc	p.P713S	SYNPO_uc021yfu.1_Missense_Mutation_p.P713S|SYNPO_uc003lso.4_Missense_Mutation_p.P469S|SYNPO_uc003lsp.3_Missense_Mutation_p.P469S|SYNPO_uc021yfv.1_Missense_Mutation_p.P469S	NM_001166208	NP_001159681	Q8N3V7	SYNPO_HUMAN	Homo sapiens synaptopodin (SYNPO), transcript variant 3, mRNA.	713					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAGCCCAAACCCAACCAGAA	0.642000														27			4		0	0	0.000602214	0	0
SLC2A9	56606	broad.mit.edu	37	4	9892302	9892302	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:9892302G>A	uc003gmc.3	-	8	1208	c.1147C>T	c.(1147-1149)Ctc>Ttc	p.L383F	SLC2A9_uc003gmd.3_Missense_Mutation_p.L354F	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.	383					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CCAATGAGGAGGGGTCTCCGT	0.527000														35			32		0	0	0.00283554	0	0
FMNL1	752	broad.mit.edu	37	17	43323944	43323944	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:43323944G>A	uc002iin.3	+	25	3484	c.3284G>A	c.(3283-3285)gGa>gAa	p.G1095E	FMNL1_uc002iiq.3_Intron|FMNL1_uc010dag.3_Intron|FMNL1_uc021tyj.1_Missense_Mutation_p.G480E|LOC100133991_uc010dah.3_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	Homo sapiens formin-like 1 (FMNL1), mRNA.	1095					actin cytoskeleton organization		Rho GTPase binding|actin binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GCCAGCCTGGGAGAAGAGATG	0.657000											OREG0024478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		27			14		0	0	0.00244969	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30950960	30950960	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:30950960G>A	uc003aig.1	-	3	1392	c.1252C>T	c.(1252-1254)Cgc>Tgc	p.R418C	GAL3ST1_uc003aih.1_Missense_Mutation_p.R418C|GAL3ST1_uc003aii.1_Missense_Mutation_p.R418C|GAL3ST1_uc010gvz.1_Missense_Mutation_p.R418C	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.	418				R -> L (in Ref. 1; AA sequence).	protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						AGGAAATCGCGAATGAACTTC	0.687000														25			14		0	0	0.00316338	0	0
ITPR1	3708	broad.mit.edu	37	3	4842138	4842138	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:4842138C>T	uc003bqc.3	+	52	7266	c.6916C>T	c.(6916-6918)Ctg>Ttg	p.L2306L	ITPR1_uc021wsi.1_Silent_p.L2273L|ITPR1_uc021wsj.1_Silent_p.L2258L|ITPR1_uc011asu.2_Intron|ITPR1_uc010hcc.2_Silent_p.L41L|ITPR1_uc011asv.2_5'UTR	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2321					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GTCGGGACTCCTGTGGACAGC	0.537000														51			27		0	0	0.00327116	0	0
FILIP1	27145	broad.mit.edu	37	6	76022573	76022573	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:76022573G>A	uc010kbe.3	-	5	3514	c.2984C>T	c.(2983-2985)cCa>cTa	p.P995L	FILIP1_uc003phy.1_Missense_Mutation_p.P992L|FILIP1_uc003phz.3_Missense_Mutation_p.P893L|FILIP1_uc003pia.3_Missense_Mutation_p.P992L|FILIP1_uc003pib.1_Missense_Mutation_p.P744L	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	992										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCCACTTTCTGGAGTCTTCTC	0.473000														63			18		0	0	0.00152264	0	0
ROBO1	6091	broad.mit.edu	37	3	79639024	79639024	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:79639024G>A	uc003dqe.2	-	1	246	c.38C>T	c.(37-39)tCa>tTa	p.S13L		NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	13					Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GCTGAGGAGTGATATCATGAC	0.413000														12			5		0	0	0.00116845	0	0
PDS5B	23047	broad.mit.edu	37	13	33332294	33332294	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:33332294G>A	uc010abf.3	+	26	3312	c.3126G>A	c.(3124-3126)aaG>aaA	p.K1042K	PDS5B_uc010abg.3_Non-coding_Transcript	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA.	1042					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TTATCAGAAAGATGGTAGAAA	0.264000														51			5		0	0	0.00116845	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811248	5811248	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:5811248G>A	uc010ndi.3	-	6	2636	c.2172C>T	c.(2170-2172)ttC>ttT	p.F724F	NLGN4X_uc004crp.3_Silent_p.F707F|NLGN4X_uc010ndh.3_Silent_p.F687F|NLGN4X_uc004crq.3_Silent_p.F687F|NLGN4X_uc004crr.3_Silent_p.F687F|NLGN4X_uc010ndj.3_Silent_p.F687F	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	687					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AGATGTTGAGGAAGAGGAGCG	0.507000														27			47		0	0	0.00361006	0	0
HTRA3	94031	broad.mit.edu	37	4	8293165	8293165	+	Silent	SNP	C	T	T	rs144431760		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:8293165C>T	uc003gla.3	+	3	984	c.777C>T	c.(775-777)atC>atT	p.I259I	HTRA3_uc003gkz.3_Silent_p.I259I	NM_053044	NP_444272	P83110	HTRA3_HUMAN	Homo sapiens HtrA serine peptidase 3 (HTRA3), mRNA.	259	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						TGGTGGCCATCGGCAGTCCCT	0.622000														47			53		0	0	0.00361006	0	0
THSD7B	80731	broad.mit.edu	37	2	138421075	138421075	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:138421075G>A	uc002tva.1	+	24	4491	c.4491G>A	c.(4489-4491)ggG>ggA	p.G1497G	THSD7B_uc010zbj.1_Non-coding_Transcript	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ACCTTTCTGGGAAAAACAGAC	0.363000														9			4		0	0	0.000602214	0	0
TTPA	7274	broad.mit.edu	37	8	63973924	63973924	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:63973924G>A	uc003xux.2	-	4	756	c.724C>T	c.(724-726)Cct>Tct	p.P242S		NM_000370	NP_000361	P49638	TTPA_HUMAN	Homo sapiens tocopherol (alpha) transfer protein (TTPA), mRNA.	242	CRAL-TRIO.				lipid metabolic process		transporter activity|vitamin E binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	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)	TATTCCAGAGGAAGAATGTCT	0.388000														41			19		0	0	0.00121646	0	0
FAM178A	55719	broad.mit.edu	37	10	102683838	102683839	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:102683838_102683839CC>TT	uc001krs.3	+	4	1622_1623	c.1080_1081CC>TT	c.(1078-1083)ttcctt>ttTTtt	p.L361F	FAM178A_uc001krr.1_Missense_Mutation_p.L361F|FAM178A_uc001krt.4_Missense_Mutation_p.L361F|FAM178A_uc001kru.1_Missense_Mutation_p.L296F	NM_001136123	NP_001129595	Q8IX21	F178A_HUMAN	Homo sapiens family with sequence similarity 178, member A (FAM178A), transcript variant 2, mRNA.	361																	GAGAGTCCTTCCTTGAGAAGCG	0.381000														22			10		0	0	6.4e-05	0	0
SLC9A9	285195	broad.mit.edu	37	3	143292979	143292979	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:143292979G>A	uc003evn.3	-	7	1160	c.951C>T	c.(949-951)ttC>ttT	p.F317F		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	317					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	p.L318fs*45(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						AAGAAAGCAGGAAAAACAGGC	0.498000														33			17		0	0	0.00188189	0	0
HECW2	57520	broad.mit.edu	37	2	197297976	197297976	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:197297976G>A	uc002utm.1	-	1	355	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C		NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	58					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AAGCTGGAGCGGCTCTCAGAA	0.582000														45			24		0	0	0.000878237	0	0
CLCN1	1180	broad.mit.edu	37	7	143048913	143048913	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:143048913C>T	uc003wcr.1	+	22	2909	c.2822C>T	c.(2821-2823)tCc>tTc	p.S941F	CLCN1_uc011ktc.1_Missense_Mutation_p.S553F	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	941					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CCCCCTCTCTCCCTGGCCCCA	0.657000														33			18		0	0	0.000566183	0	0
KATNAL1	84056	broad.mit.edu	37	13	30805518	30805518	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:30805518G>A	uc001uss.3	-	6	919	c.818C>T	c.(817-819)tCg>tTg	p.S273L	KATNAL1_uc001ust.3_Missense_Mutation_p.S273L	NM_001014380	NP_115492	Q9BW62	KATL1_HUMAN	Homo sapiens katanin p60 subunit A-like 1 (KATNAL1), transcript variant 2, mRNA.	273						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		TGTAGAAGACGAAACGTTGAA	0.408000														35			5		0	0	0.000602214	0	0
MXRA5	25878	broad.mit.edu	37	X	3229527	3229527	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:3229527C>T	uc004crg.4	-	6	6874	c.6717G>A	c.(6715-6717)gtG>gtA	p.V2239V		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2239	Ig-like C2-type 6.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCGGTTTCATCACCACATCCA	0.517000														19			46		0	0	0.00361006	0	0
EPHA3	2042	broad.mit.edu	37	3	89521768	89521768	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:89521768G>A	uc003dqy.3	+	16	3071	c.2846_splice	c.e16+1	p.D949_splice	EPHA3_uc021xbf.1_Intron	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	949	SAM.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GATTTCCACAGAGTAAGAAAA	0.383000										TSP Lung(6;0.00050)				26			16		0	0	0.00316338	0	0
KIAA1841	84542	broad.mit.edu	37	2	61331052	61331052	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:61331052C>T	uc002saw.4	+	12	1733	c.1430C>T	c.(1429-1431)tCc>tTc	p.S477F	KIAA1841_uc002sax.4_Missense_Mutation_p.S331F|KIAA1841_uc002say.3_Missense_Mutation_p.S477F	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	Homo sapiens KIAA1841 (KIAA1841), transcript variant 1, mRNA.	477										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GATTTGCCGTCCTGTCCCACT	0.443000														50			17		0	0	0.00074312	0	0
RNF17	56163	broad.mit.edu	37	13	25373580	25373580	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:25373580G>A	uc001upr.3	+	11	1488	c.1447G>A	c.(1447-1449)Gga>Aga	p.G483R	RNF17_uc010tdd.1_Missense_Mutation_p.G342R|RNF17_uc010tde.2_Missense_Mutation_p.G483R|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.G422R	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	483					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GTGGTGTCGAGGAACTATCAC	0.323000														107			16		0	0	0.000566183	0	0
PELP1	27043	broad.mit.edu	37	17	4576309	4576310	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:4576309_4576310GG>AA	uc002fyi.4	-	15	2202_2203	c.1976_1977CC>TT	c.(1975-1977)ccc>cTT	p.P659L	PELP1_uc010vsf.2_Missense_Mutation_p.P512L	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA.	659	Pro-rich.				transcription, DNA-dependent	MLL1 complex|cytoplasm	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GGGCCCTGAAGGGCGATGGGGC	0.703000														21			17		0	0	6.4e-05	0	0
CCDC11	220136	broad.mit.edu	37	18	47769408	47769408	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr18:47769408C>T	uc002lee.2	-	5	1166	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	Homo sapiens coiled-coil domain containing 11 (CCDC11), mRNA.	359										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		CTGTCAAATTCTTTCTCCTGA	0.383000														68			83		0	0	0.00361006	0	0
OTOA	146183	broad.mit.edu	37	16	21693134	21693134	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:21693134C>T	uc002djh.3	+	4	256	c.255C>T	c.(253-255)atC>atT	p.I85I	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_5'Flank	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	85					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CCTTCACCATCCCCAGCCTGC	0.537000														29			18		0	0	0.00152264	0	0
DIP2C	22982	broad.mit.edu	37	10	409160	409160	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:409160G>A	uc001ifp.3	-	20	2659	c.2569C>T	c.(2569-2571)Cag>Tag	p.Q857*	DIP2C_uc009xhi.1_Nonsense_Mutation_p.Q243*|DIP2C_uc010pzz.1_Nonsense_Mutation_p.Q178*	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	857						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTCATCCACTGGAAACTGTCC	0.597000														17			5		0	0	0.000602214	0	0
CHRDL2	25884	broad.mit.edu	37	11	74414480	74414480	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:74414480G>A	uc001ovh.3	-	7	1069	c.816C>T	c.(814-816)ttC>ttT	p.F272F	CHRDL2_uc001ovg.3_Silent_p.F156F|CHRDL2_uc001ovi.3_Silent_p.F272F|CHRDL2_uc001ovj.1_Non-coding_Transcript|CHRDL2_uc001ovk.1_Intron	NM_015424	NP_056239	Q6WN34	CRDL2_HUMAN	Homo sapiens chordin-like 2 (CHRDL2), mRNA.	272	VWFC 3.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					GCAAGGGGCCGAAGGCACGGA	0.642000														15			8		0	0	0.000274275	0	0
SLC13A2	9058	broad.mit.edu	37	17	26817355	26817355	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:26817355G>A	uc010wan.2	+	2	329	c.262G>A	c.(262-264)Gag>Aag	p.E88K	SLC13A2_uc010wal.1_Intron|SLC13A2_uc010wam.2_Intron|SLC13A2_uc002hbh.3_Intron|SLC13A2_uc010wao.2_Intron|SLC13A2_uc002hbi.3_5'UTR	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	66						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	p.E88*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	ATCCAGTTTCGAGAGCCCAGG	0.522000														18			21		0	0	0.00121646	0	0
HEG1	57493	broad.mit.edu	37	3	124732282	124732282	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:124732282G>A	uc011bke.2	-	6	2509	c.2441C>T	c.(2440-2442)tCc>tTc	p.S814F	HEG1_uc003ehs.4_Missense_Mutation_p.S714F	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.	714						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TGATGGTGAGGAAGACCATGG	0.458000														55			24		0	0	0.00332997	0	0
PTGIR	5739	broad.mit.edu	37	19	47124583	47124583	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:47124583C>T	uc002pex.3	-	2	1228	c.1115G>A	c.(1114-1116)gGa>gAa	p.G372E		NM_000960	NP_000951	P43119	PI2R_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) receptor (IP) (PTGIR), mRNA.	372					G-protein signaling, coupled to cyclic nucleotide second messenger|cell-cell signaling|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity	p.G372*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	GGACGACGTTCCCACGGCGCT	0.647000														42			23		0	0	0.00188189	0	0
GTF3C1	2975	broad.mit.edu	37	16	27476020	27476020	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:27476020G>A	uc002dov.2	-	33	5533	c.5493C>T	c.(5491-5493)gaC>gaT	p.D1831D	GTF3C1_uc002dou.3_Silent_p.D1831D	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1831						transcription factor TFIIIC complex	DNA binding|protein binding	p.E1830*(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TGGCCTGGGGGTCTTCTCTCT	0.677000														49			31		0	0	0.00209593	0	0
SLC6A20	54716	broad.mit.edu	37	3	45807204	45807204	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:45807204G>A	uc011bai.2	-	7	1252	c.1128C>T	c.(1126-1128)atC>atT	p.I376I	SLC6A20_uc003cow.3_Silent_p.I26I|SLC6A20_uc011baj.2_Silent_p.I339I	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	376					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CTGTGTAGACGATGAATGCCA	0.532000														52			20		0	0	0.00278032	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140207705	140207705	+	Missense_Mutation	SNP	G	A	A	rs17844300		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140207705G>A	uc003lho.2	+	0	56	c.29G>A	c.(28-30)gGa>gAa	p.G10E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Missense_Mutation_p.G10E|PCDHAC2_uc011dab.2_Missense_Mutation_p.G10E	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	0					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATAGATTGGGAAAGCAATGT	0.512000														135			25		0	0	0.00106085	0	0
CDC42EP2	10435	broad.mit.edu	37	11	65088671	65088671	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:65088671C>T	uc021qli.1	+	0	302	c.302C>T	c.(301-303)tCc>tTc	p.S101F	CDC42EP2_uc001odl.3_Missense_Mutation_p.S101F	NM_006779	NP_006770	O14613	BORG1_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 2 (CDC42EP2), mRNA.	101					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity			lung(1)	1						GACGGCCCATCCCCTCTGCTC	0.677000														40			10		0	0	0.000978159	0	0
JUP	3728	broad.mit.edu	37	17	39920986	39920986	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:39920986G>A	uc002hxq.2	-	6	1414	c.1137C>T	c.(1135-1137)ctC>ctT	p.L379L	JUP_uc010wfs.2_Intron|JUP_uc002hxr.2_Silent_p.L379L|JUP_uc002hxs.2_Silent_p.L379L	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	379					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CCACATCTGAGAGGTTGCGCA	0.647000														21			11		0	0	0.00136819	0	0
UBE2MP1	606551	broad.mit.edu	37	16	34404044	34404044	+	RNA	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:34404044G>A	uc002edv.1	-	0		c.719C>T								Homo sapiens ubiquitin-conjugating enzyme E2M pseudogene 1 (UBE2MP1), non-coding RNA.																		CCGTGGCGGGGGTGGGTATGC	0.637000														10			9		0	0	0.000442599	0	0
ZNF426	79088	broad.mit.edu	37	19	9640026	9640026	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:9640026G>A	uc002mlq.3	-	7	959	c.695C>T	c.(694-696)tCc>tTc	p.S232F	ZNF426_uc010dws.3_Missense_Mutation_p.S194F	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN	Homo sapiens zinc finger protein 426 (ZNF426), mRNA.	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						ATTAATGAAGGATTTTCCACA	0.368000														98			57		0	0	0.00361006	0	0
DNAH3	55567	broad.mit.edu	37	16	21136549	21136549	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:21136549C>T	uc010vbe.2	-	8	1351	c.1351G>A	c.(1351-1353)Gag>Aag	p.E451K	DNAH3_uc002die.2_Missense_Mutation_p.E422K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	451	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATGACCAGCTCCCTAAGCTGC	0.448000														68			54		0	0	0.00361006	0	0
FNIP2	57600	broad.mit.edu	37	4	159791505	159791505	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:159791505C>T	uc003iqe.4	+	13	3016	c.2833C>T	c.(2833-2835)Cgc>Tgc	p.R945C		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.	945					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GAACTTTGGCCGCTCACTTCT	0.488000														25			31		0	0	0.00111076	0	0
SLC22A9	114571	broad.mit.edu	37	11	63176338	63176338	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:63176338G>A	uc001nww.3	+	8	1856	c.1588G>A	c.(1588-1590)Gat>Aat	p.D530N	SLC22A9_uc001nwx.3_Intron	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	530					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CACCATCCAGGATGAGAAAAA	0.498000														14			13		0	0	0.00244969	0	0
SLC6A18	348932	broad.mit.edu	37	5	1232951	1232951	+	Silent	SNP	C	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:1232951C>G	uc003jby.2	+	2	510	c.387C>G	c.(385-387)tcC>tcG	p.S129S		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	129					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCCTCAACTCCTTCCAGCACC	0.647000														40			21		0	0	0.00229938	0	0
C1orf200	644997	broad.mit.edu	37	1	9714409	9714409	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:9714409G>A	uc001aqc.4	-	0	236	c.86C>T	c.(85-87)tCg>tTg	p.S29L	PIK3CD_uc001aqa.2_Intron|PIK3CD_uc001aqb.4_Intron					Homo sapiens chromosome 1 open reading frame 200 (C1orf200), non-coding RNA.											endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)	9	all_lung(157;0.222)	Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.86e-08)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(185;0.000231)|KIRC - Kidney renal clear cell carcinoma(229;0.000879)|BRCA - Breast invasive adenocarcinoma(304;0.00178)|STAD - Stomach adenocarcinoma(132;0.00331)|READ - Rectum adenocarcinoma(331;0.0419)		TTTCTCCTCCGATACCATGTT	0.597000														29			20		0	0	0.00229938	0	0
SLU7	10569	broad.mit.edu	37	5	159840982	159840982	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:159840982G>A	uc003lyg.3	-	3	484	c.329C>T	c.(328-330)tCc>tTc	p.S110F		NM_006425	NP_006416	O95391	SLU7_HUMAN	Homo sapiens SLU7 splicing factor homolog (S. cerevisiae) (SLU7), mRNA.	110					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTAATTATGGAATTCTATAA	0.313000														29			7		0	0	0.00198382	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166434	180166434	+	Missense_Mutation	SNP	G	A	A	rs141289205		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:180166434G>A	uc003mmf.1	-	0	625	c.625C>T	c.(625-627)Cct>Tct	p.P209S		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGTGCTGCAGGAACAGCCACG	0.522000														100			12		0	0	0.00136819	0	0
ANAPC1	64682	broad.mit.edu	37	2	112621464	112621464	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:112621464A>T	uc002thi.3	-	8	1087	c.840T>A	c.(838-840)aaT>aaA	p.N280K		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	280					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TTAAAACAACATTCTCTTCCT	0.393000														14			18		0	0	0.00074312	0	0
KRI1	65095	broad.mit.edu	37	19	10664854	10664854	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:10664854G>A	uc002moy.1	-	18	1912	c.1903C>T	c.(1903-1905)Ccc>Tcc	p.P635S	KRI1_uc002mow.1_Missense_Mutation_p.P254S|KRI1_uc002mox.1_Missense_Mutation_p.P631S	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	Homo sapiens KRI1 homolog (S. cerevisiae) (KRI1), mRNA.	635										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TGTGCTGGGGGACTCTCCGGC	0.647000														69			20		0	0	0.00152264	0	0
MTMR4	9110	broad.mit.edu	37	17	56573371	56573372	+	Missense_Mutation	DNP	CG	AT	AT	rs145309683		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:56573371_56573372CG>AT	uc002iwj.2	-	15	2241_2242	c.2131_2132CG>AT	c.(2131-2133)cgg>ATg	p.R711M		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	711						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTTCATTTCCCGAGGCACTGCG	0.490000														390			10		0	0	6.4e-05	0	0
PRTG	283659	broad.mit.edu	37	15	55931908	55931908	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:55931908G>A	uc002adg.3	-	12	2304	c.2256C>T	c.(2254-2256)atC>atT	p.I752I		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	752	Fibronectin type-III 4.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TGTAGTTAATGATTTGTGCAG	0.483000														80			38		0	0	0.00148497	0	0
CYP2C9	1559	broad.mit.edu	37	10	96701997	96701998	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:96701997_96701998CC>TT	uc001kka.4	+	2	405_406	c.380_381CC>TT	c.(379-381)tcc>tTT	p.S127F	CYP2C9_uc009xut.3_Missense_Mutation_p.S127F|CYP2C9_uc001kjz.3_Missense_Mutation_p.S127F	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	127					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	CGGCGTTTCTCCCTCATGACGC	0.500000														14			9		0	0	6.4e-05	0	0
GRIN2B	2904	broad.mit.edu	37	12	13715781	13715781	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:13715781G>A	uc001rbt.2	-	12	4570	c.4391C>T	c.(4390-4392)gCt>gTt	p.A1464V		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1464					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCCATTGAAAGCCCTGGGGTT	0.522000														68			51		0	0	0.00361006	0	0
RIMBP3B	440804	broad.mit.edu	37	22	21741381	21741381	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:21741381C>T	uc002zuq.4	+	0	3719	c.3234C>T	c.(3232-3234)ttC>ttT	p.F1078F	RN7SK_uc021wmf.1_5'Flank	NM_001128635	NP_001122107			Homo sapiens RIMS binding protein 3B (RIMBP3B), mRNA.																		CCGTCACCTTCGACACACTCT	0.657000														14			6		0	0	0.00116845	0	0
ARID3C	138715	broad.mit.edu	37	9	34622505	34622505	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:34622505G>A	uc011lon.2	-	4	887	c.887C>T	c.(886-888)cCt>cTt	p.P296L	DCTN3_uc003zuw.1_5'Flank|DCTN3_uc003zux.1_5'Flank	NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	Homo sapiens AT rich interactive domain 3C (BRIGHT-like) (ARID3C), mRNA.	296	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		TGCCAGACAAGGGTTTGGAAT	0.572000														55			31		0	0	0.000953801	0	0
OR2W3	343171	broad.mit.edu	37	1	248059194	248059194	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:248059194C>T	uc010pzb.2	+	0	306	c.306C>T	c.(304-306)ttC>ttT	p.F102F	OR2W3_uc001idp.1_Silent_p.F102F	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCCAGCTCTTCCTGTTCCTGG	0.557000														83			14		0	0	0.00400662	0	0
ADRA1D	146	broad.mit.edu	37	20	4228517	4228517	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:4228517G>A	uc002wkr.2	-	0	1143	c.1088C>T	c.(1087-1089)cCt>cTt	p.P363L		NM_000678	NP_000669	P25100	ADA1D_HUMAN	Homo sapiens adrenergic, alpha-1D-, receptor (ADRA1D), mRNA.	363					DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|cell proliferation|cell-cell signaling|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	AAAGAAGAAAGGGAACCAGCA	0.632000														11			7		0	0	0.00307968	0	0
SLC12A5	57468	broad.mit.edu	37	20	44678403	44678403	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:44678403C>T	uc010zxl.1	+	16	2300	c.2224C>T	c.(2224-2226)Cat>Tat	p.H742Y	SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Missense_Mutation_p.H719Y	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	742					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCTGGAAAATCATCCACAGGC	0.577000														9			6		0	0	0.00198382	0	0
CLEC5A	23601	broad.mit.edu	37	7	141631543	141631543	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:141631543G>A	uc003vwv.1	-	5	626	c.429C>T	c.(427-429)atC>atT	p.I143I	CLEC5A_uc011krm.1_Silent_p.I120I|CLEC5A_uc003vww.1_Silent_p.I142I|CLEC5A_uc010lnq.1_Silent_p.I120I|CLEC5A_uc010lnr.1_Non-coding_Transcript	NM_013252	NP_037384	Q9NY25	CLC5A_HUMAN	Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA.	143	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					CAGAGTTGTTGATCCAACGCC	0.408000														64			29		0	0	0.00375469	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53679563	53679563	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:53679563G>A	uc002ehp.3	-	16	2721	c.2657C>T	c.(2656-2658)tCg>tTg	p.S886L	RPGRIP1L_uc002eho.4_Missense_Mutation_p.S886L|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.S886L|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.S886L|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.S886L	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	886					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				ATGTGCCAACGAAATCAGAGG	0.328000														231			134		0	0	0.00361006	0	0
SPTBN5	51332	broad.mit.edu	37	15	42156208	42156208	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:42156208A>C	uc001zos.3	-	39	7161	c.6828T>G	c.(6826-6828)gaT>gaG	p.D2276E		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	2311					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGATGCAGGCATCACCCACTG	0.587000														59			21		0	0	0.00229938	0	0
MED12L	116931	broad.mit.edu	37	3	150908568	150908568	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:150908568C>T	uc003eyp.3	+	12	1947	c.1818C>T	c.(1816-1818)ttC>ttT	p.F606F	MED12L_uc011bnz.2_Silent_p.F466F|MED12L_uc003eyn.3_Silent_p.F606F|MED12L_uc003eyo.3_Silent_p.F606F	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	606					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCTGCGAGTTCATCCGCCATG	0.478000														38			17		0	0	0.000566183	0	0
LHX4	89884	broad.mit.edu	37	1	180241035	180241035	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:180241035G>C	uc001goe.2	+	4	904	c.672G>C	c.(670-672)tgG>tgC	p.W224C	LOC100527964_uc001gof.2_Non-coding_Transcript	NM_033343	NP_203129	Q969G2	LHX4_HUMAN	Homo sapiens LIM homeobox 4 (LHX4), mRNA.	224						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R223C(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						GGCACCGCTGGGGGCAGTTCT	0.577000														101			18		0	0	0.000566183	0	0
VRTN	55237	broad.mit.edu	37	14	74824770	74824770	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:74824770C>T	uc021rwl.1	+	0	1284	c.1284C>T	c.(1282-1284)ttC>ttT	p.F428F	VRTN_uc001xpw.4_Silent_p.F428F	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	428					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						AACGCAGGTTCCCTGGCATCT	0.572000														40			32		0	0	0.00327116	0	0
SLC9A4	389015	broad.mit.edu	37	2	103149004	103149004	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:103149004C>T	uc002tbz.4	+	11	2711	c.2254C>T	c.(2254-2256)Cat>Tat	p.H752Y		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	752					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ACCTCTGTTTCATGCAGTGGA	0.532000														14			11		0	0	0.000978159	0	0
DNAH8	1769	broad.mit.edu	37	6	38854674	38854674	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:38854674G>A	uc021yzh.1	+	56	8476	c.8367G>A	c.(8365-8367)atG>atA	p.M2789I	DNAH8_uc003ooe.2_Missense_Mutation_p.M2572I	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TAGCAGCAATGATCCACCCTG	0.398000														35			32		0	0	0.0024448	0	0
NOD1	10392	broad.mit.edu	37	7	30492007	30492007	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:30492007G>A	uc003tav.3	-	5	1549	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	NOD1_uc010kvs.2_3'UTR	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	342	NACHT.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of dendritic cell antigen processing and presentation|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TCTTCCGCAGGAACTGGCGCG	0.672000														43			27		0	0	0.001512	0	0
DMBX1	127343	broad.mit.edu	37	1	46977781	46977781	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:46977781C>T	uc001cpx.3	+	3	779	c.764C>T	c.(763-765)tCc>tTc	p.S255F	DMBX1_uc001cpw.3_Missense_Mutation_p.S250F	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	255					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CCCTCCCACTCCTATTCCTCG	0.617000														101			32		0	0	0.000953801	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130938999	130938999	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:130938999G>A	uc003kvn.2	-	2	368	c.162C>T	c.(160-162)cgC>cgT	p.R54R	RAPGEF6_uc003kvp.2_Silent_p.R104R|RAPGEF6_uc003kvo.2_Silent_p.R54R|RAPGEF6_uc010jdi.2_Silent_p.R54R|RAPGEF6_uc010jdj.2_Silent_p.R54R|RAPGEF6_uc011cxe.2_Non-coding_Transcript|RAPGEF6_uc003kvr.3_Silent_p.R54R|RAPGEF6_uc010jdk.3_Silent_p.R54R	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	54					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATCTCTCATAGCGTGCTCTTG	0.254000														125			7		0	0	0.000274275	0	0
GLTPD2	388323	broad.mit.edu	37	17	4692404	4692404	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:4692404G>A	uc002fza.2	+	0	151	c.98G>A	c.(97-99)cGg>cAg	p.R33Q	VMO1_uc002fyx.3_5'Flank|VMO1_uc010vsh.2_5'Flank|VMO1_uc010vsi.2_5'Flank|VMO1_uc002fyy.3_5'Flank|BC150535_uc002fyz.2_3'UTR	NM_001014985	NP_001014985			Homo sapiens glycolipid transfer protein domain containing 2 (GLTPD2), mRNA.											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4						CTCAGTGTTCGGAGCCTAGGT	0.642000														3			9		0	0	0.000673444	0	0
ZMYM1	79830	broad.mit.edu	37	1	35580267	35580267	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:35580267G>A	uc001bym.3	+	9	2982	c.2836G>A	c.(2836-2838)Gat>Aat	p.D946N	ZMYM1_uc001byn.3_Missense_Mutation_p.D946N|ZMYM1_uc010ohu.2_Missense_Mutation_p.D927N|ZMYM1_uc001byo.3_Missense_Mutation_p.D586N|ZMYM1_uc009vut.3_Missense_Mutation_p.D871N	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA.	946						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAAATCAGTAGATCTTGGCAA	0.274000														40			24		0	0	0.00178596	0	0
BAHCC1	57597	broad.mit.edu	37	17	79414171	79414171	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:79414171G>A	uc002kaf.2	+	9	3087	c.3087G>A	c.(3085-3087)ccG>ccA	p.P1029P	BAHCC1_uc002kae.2_Silent_p.P321P	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	1091							DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			CCACCGCCCCGGGGGCCCAGC	0.682000														25			17		0	0	0.000958276	0	0
ASPHD2	57168	broad.mit.edu	37	22	26829737	26829737	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:26829737C>T	uc003acg.2	+	1	553	c.156C>T	c.(154-156)tcC>tcT	p.S52S		NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN	Homo sapiens aspartate beta-hydroxylase domain containing 2 (ASPHD2), mRNA.	52					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						GCATCCAGTCCGTGCGGGACT	0.657000														59			27		0	0	0.000720815	0	0
RNASEL	6041	broad.mit.edu	37	1	182555534	182555534	+	Silent	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:182555534A>G	uc009wxz.2	-	1	665	c.408T>C	c.(406-408)ggT>ggC	p.G136G	RNASEL_uc001gpk.3_Silent_p.G136G|RNASEL_uc009wya.1_Silent_p.G136G	NM_021133	NP_066956	Q05823	RN5A_HUMAN	Homo sapiens ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (RNASEL), mRNA.	136					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|RNA binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CTTTGACCTTACCATACACAG	0.458000														33			27		0	0	0.001512	0	0
TRPC7	57113	broad.mit.edu	37	5	135583383	135583383	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:135583383C>T	uc003lbn.2	-	6	1842	c.1620G>A	c.(1618-1620)tcG>tcA	p.S540S	TRPC7_uc010jef.2_Silent_p.S476S|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Silent_p.S91S|TRPC7_uc010jeh.2_Silent_p.S479S|TRPC7_uc010jei.2_Silent_p.S424S	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	540					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGAGCCCTTCCGATATGATCT	0.522000														72			6		0	0	0.00116845	0	0
MED12L	116931	broad.mit.edu	37	3	150908543	150908543	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:150908543A>G	uc003eyp.3	+	12	1922	c.1793A>G	c.(1792-1794)aAc>aGc	p.N598S	MED12L_uc011bnz.2_Missense_Mutation_p.N458S|MED12L_uc003eyn.3_Missense_Mutation_p.N598S|MED12L_uc003eyo.3_Missense_Mutation_p.N598S	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	598					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAATTTGTGAACCTGGTGCTG	0.438000														33			16		0	0	0.00121646	0	0
CHRNB4	1143	broad.mit.edu	37	15	78923654	78923654	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:78923654C>T	uc002bed.1	-	2	337	c.225G>A	c.(223-225)atG>atA	p.M75I	CHRNB4_uc002bee.1_Missense_Mutation_p.M75I|CHRNB4_uc010blh.1_5'UTR	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	75					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						CATTGGTGGTCATGATCTGCT	0.532000														87			45		0	0	0.00361006	0	0
ARHGAP6	395	broad.mit.edu	37	X	11204449	11204449	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:11204449C>T	uc004cup.1	-	4	2053	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Missense_Mutation_p.E394K|ARHGAP6_uc004cum.1_Missense_Mutation_p.E191K|ARHGAP6_uc004cun.1_Missense_Mutation_p.E214K|ARHGAP6_uc010neb.1_Missense_Mutation_p.E216K|ARHGAP6_uc011mif.1_Missense_Mutation_p.E191K	NM_013427	NP_038286	O43182	RHG06_HUMAN	Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.	394					Rho protein signal transduction|actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly	actin filament|cytosol	Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity|phospholipase activator activity|phospholipase binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTGGCTTTTTCCTTTTTACTT	0.438000														23			53		0	0	0.00361006	0	0
DDX11	1663	broad.mit.edu	37	12	31242042	31242042	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:31242042C>A	uc001rjt.1	+	6	1000	c.749C>A	c.(748-750)cCc>cAc	p.P250H	DDX11_uc010sjw.1_Missense_Mutation_p.P250H|DDX11_uc010sjx.1_Non-coding_Transcript|DDX11_uc001rjr.1_Missense_Mutation_p.P250H|DDX11_uc001rjs.1_Missense_Mutation_p.P250H|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.P250H|DDX11_uc001rjw.1_Missense_Mutation_p.P224H|DDX11_uc001rjx.1_5'UTR|DDX11_uc009zjn.1_Non-coding_Transcript	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA.	250	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|RNA binding|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					AAGAAGAGCCCCTTTGGCAAG	0.522000										Multiple Myeloma(12;0.14)				49			6		8.12818e-05	0.000183755	0.00198382	1	0
PASD1	139135	broad.mit.edu	37	X	150840952	150840952	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:150840952G>A	uc004fev.4	+	13	2067	c.1735G>A	c.(1735-1737)Ggg>Agg	p.G579R		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	579						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TGTCATCGTGGGGAATGAGAG	0.537000														10			27		0	0	0.00127121	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67222706	67222706	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:67222706C>T	uc002erx.1	-	3	586	c.345G>A	c.(343-345)caG>caA	p.Q115Q	EXOC3L1_uc002erv.1_Non-coding_Transcript|EXOC3L1_uc002erw.1_Intron|EXOC3L1_uc010vje.1_Intron|EXOC3L1_uc002ery.1_Intron	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	Homo sapiens exocyst complex component 3-like 1 (EXOC3L1), mRNA.	115	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						GCTCTAGAGTCTGTAAGGCCT	0.677000														29			25		0	0	0.00395357	0	0
OR5T3	390154	broad.mit.edu	37	11	56020051	56020051	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:56020051G>A	uc010rjd.2	+	0	376	c.376G>A	c.(376-378)Gga>Aga	p.G126R		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTCATTTATCGGATGTGCAAC	0.363000														60			36		0	0	0.00148497	0	0
SLC9C2	284525	broad.mit.edu	37	1	173526623	173526623	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:173526623G>A	uc001giz.2	-	9	1494	c.1071C>T	c.(1069-1071)agC>agT	p.S357S	SLC9C2_uc009wwe.2_5'UTR|SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	357					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TCAAAATAGGGCTCACTAACA	0.338000														109			146		0	0	0.00361006	0	0
SORCS2	57537	broad.mit.edu	37	4	7725580	7725580	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:7725580G>A	uc003gkb.4	+	18	2581	c.2581G>A	c.(2581-2583)Gat>Aat	p.D861N	SORCS2_uc011bwi.2_Missense_Mutation_p.D689N	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	861	PKD.					integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GGCAGGCCACGATGAGGCGGT	0.587000														51			20		0	0	0.00188189	0	0
SLC10A6	345274	broad.mit.edu	37	4	87746604	87746604	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:87746604G>A	uc003hqd.2	-	4	1036	c.888C>T	c.(886-888)ttC>ttT	p.F296F		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 6 (SLC10A6), mRNA.	296						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CTATCAGCTGGAAGAGTCCAT	0.448000														24			25		0	0	0.00395357	0	0
TPTE2	93492	broad.mit.edu	37	13	20006665	20006665	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:20006665G>A	uc001umd.3	-	16	1381	c.1170C>T	c.(1168-1170)ctC>ctT	p.L390L	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Silent_p.L279L|TPTE2_uc001ume.3_Silent_p.L313L|TPTE2_uc009zzm.3_Silent_p.L61L|TPTE2_uc010tcm.2_Non-coding_Transcript|TPTE2_uc010tcl.2_Silent_p.L61L	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	390						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GTCTTGGAGGGAGATTCCAGT	0.358000														42			6		0	0	0.00116845	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135721177	135721177	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:135721177G>A	uc003eqv.2	+	1	1454	c.837G>A	c.(835-837)atG>atA	p.M279I	PPP2R3A_uc011blz.2_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', alpha (PPP2R3A), transcript variant 1, mRNA.	279					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTGTCTATATGAATGTAATGA	0.358000														17			7		0	0	0.000442599	0	0
ASB15	142685	broad.mit.edu	37	7	123264718	123264718	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:123264718G>A	uc003vku.1	+	7	839	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	ASB15_uc003vkv.1_Missense_Mutation_p.E183K|ASB15_uc003vkw.1_Missense_Mutation_p.E183K	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	183					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AGCAATGCATGAAGCAGCCAA	0.498000											OREG0018282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		71			19		0	0	0.00188189	0	0
ZNF66	0	broad.mit.edu	37	19	20959256	20959256	+	RNA	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:20959256G>A	uc002npe.3	+	0		c.147G>A								Homo sapiens zinc finger protein 66, mRNA (cDNA clone MGC:87430 IMAGE:5270688), complete cds.																		GCCTAGAAATGGTGAGAGTGC	0.592000														42			8		0	0	0.000442599	0	0
GALK1	2584	broad.mit.edu	37	17	73759118	73759118	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:73759118G>A	uc002jpk.3	-	3	651	c.588C>T	c.(586-588)ggC>ggT	p.G196G	GALK1_uc010wsj.1_3'UTR	NM_000154	NP_000145	P51570	GALK1_HUMAN	Homo sapiens galactokinase 1 (GALK1), mRNA.	196					galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCAGCGCGTGGCCTTTCTGTC	0.652000														42			24		0	0	0.00395357	0	0
MGAM	8972	broad.mit.edu	37	7	141758027	141758027	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:141758027C>T	uc003vwy.3	+	30	3772	c.3718C>T	c.(3718-3720)Cct>Tct	p.P1240S		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1240	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGTGATGGTACCTTACTGGTC	0.443000														261			127		0	0	0.00361006	0	0
NLRP14	338323	broad.mit.edu	37	11	7064198	7064198	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:7064198G>A	uc001mfb.1	+	3	1264	c.941G>A	c.(940-942)aGa>aAa	p.R314K		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	314	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ACTTCTAAGAGACTAAAGCAG	0.418000														37			19		0	0	0.00121646	0	0
KIAA0895	23366	broad.mit.edu	37	7	36370647	36370647	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:36370647G>A	uc003tfd.2	-	5	1399	c.1348C>T	c.(1348-1350)Caa>Taa	p.Q450*	KIAA0895_uc003tfc.2_Nonsense_Mutation_p.Q437*|KIAA0895_uc011kax.1_Nonsense_Mutation_p.Q447*|KIAA0895_uc003tfb.2_Nonsense_Mutation_p.Q399*|KIAA0895_uc011kaw.2_Nonsense_Mutation_p.Q347*	NM_001100425	NP_001093895	Q8NCT3	K0895_HUMAN	Homo sapiens KIAA0895 (KIAA0895), transcript variant 1, mRNA.	450										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CGGAGGATTTGAAGAATTCCA	0.428000														75			26		0	0	0.001512	0	0
PLCZ1	89869	broad.mit.edu	37	12	18865877	18865877	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:18865877C>T	uc021qvx.1	-	5	804	c.613G>A	c.(613-615)Gat>Aat	p.D205N	PLCZ1_uc001rdv.4_Missense_Mutation_p.D101N|PLCZ1_uc001rdw.4_Intron|PLCZ1_uc001rdu.1_5'UTR|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	205	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.W204R(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TGTGCTCCATCCCAGCAGTCA	0.373000														30			6		0	0	0.00116845	0	0
TSGA13	114960	broad.mit.edu	37	7	130368484	130368484	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:130368484G>A	uc003vqi.3	-	2	507	c.50C>T	c.(49-51)tCa>tTa	p.S17L	TSGA13_uc003vqj.3_Missense_Mutation_p.S17L	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN	Homo sapiens testis specific, 13 (TSGA13), mRNA.	17										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					GCTATTTTCTGAAGTCTTTGA	0.413000														425			191		0	0	0.00361006	0	0
BACH1	571	broad.mit.edu	37	21	30693685	30693685	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:30693685G>A	uc002ynk.3	+	1	327	c.84G>A	c.(82-84)cgG>cgA	p.R28R	BACH1_uc002ynj.3_Silent_p.R28R|BACH1_uc002ynl.2_Non-coding_Transcript	NM_206866	NP_996749	O14867	BACH1_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 1 (BACH1), transcript variant 1, mRNA.	28						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						ATGACCAGCGGAAGAAAGATG	0.493000														62			26		0	0	0.00127121	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3687268	3687268	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:3687268G>A	uc002wja.3	-	1	135	c.135C>T	c.(133-135)ttC>ttT	p.F45F	SIGLEC1_uc002wiz.4_Silent_p.F45F|SIGLEC1_uc002wjc.3_5'UTR	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	45	Ig-like V-type.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CGTCGGCAGGGAAGCTGAAGA	0.662000														4			3		0	0	6.4e-05	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222485	140222485	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140222485G>A	uc003lhs.2	+	0	1579	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.E527K	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	541	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCACGAGGAGCTAGAGCT	0.672000														152			11		0	0	0.00185496	0	0
OR51I2	390064	broad.mit.edu	37	11	5475610	5475610	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:5475610G>A	uc010qzf.2	+	0	973	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 2 (OR51I2), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGACAAAGGAAATCCGCCG	0.438000														123			25		0	0	0.000953801	0	0
CD36	948	broad.mit.edu	37	7	80293749	80293749	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:80293749A>G	uc003uhc.3	+	9	1321	c.637A>G	c.(637-639)Aaa>Gaa	p.K213E	CD36_uc011kgv.2_Missense_Mutation_p.K137E|CD36_uc003uhd.4_Missense_Mutation_p.K213E|CD36_uc003uhe.4_Missense_Mutation_p.K213E|CD36_uc003uhf.4_Missense_Mutation_p.K213E|CD36_uc003uhg.4_Missense_Mutation_p.K213E|CD36_uc003uhh.4_Missense_Mutation_p.K213E|CD36_uc022agu.1_Missense_Mutation_p.K213E|CD36_uc022agv.1_Missense_Mutation_p.K153E	NM_001127444	NP_001120916	P16671	CD36_HUMAN	Homo sapiens CD36 molecule (thrombospondin receptor) (CD36), transcript variant 5, mRNA.	213					cGMP-mediated signaling|cell adhesion|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TGGAGTTTATAAAGTTTTCAA	0.289000														113			53		0	0	0.00361006	0	0
FAM188A	80013	broad.mit.edu	37	10	15828602	15828602	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:15828602G>A	uc001iod.1	-	12	1295	c.1074C>T	c.(1072-1074)atC>atT	p.I358I	FAM188A_uc001ioe.1_Silent_p.I185I	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN	Homo sapiens family with sequence similarity 188, member A (FAM188A), mRNA.	358					apoptosis	nucleus	calcium ion binding	p.G357R(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						CCAATAATATGATTCCTAATC	0.333000														22			5		0	0	0.00116845	0	0
KLC4	89953	broad.mit.edu	37	6	43040994	43040994	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:43040994C>T	uc003otw.1	+	13	2036	c.1717C>T	c.(1717-1719)Ctt>Ttt	p.L573F	KLC4_uc003otr.1_Non-coding_Transcript|KLC4_uc003otv.1_Missense_Mutation_p.L555F|KLC4_uc011dvd.1_Missense_Mutation_p.L478F|KLC4_uc003otx.1_Missense_Mutation_p.L555F|KLC4_uc003oty.1_Missense_Mutation_p.L555F|KLC4_uc003otz.1_Missense_Mutation_p.L555F	NM_201523	NP_958930	Q9NSK0	KLC4_HUMAN	Homo sapiens kinesin light chain 4 (KLC4), transcript variant 3, mRNA.	555						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			GAGTGGCTCTCTTGGCAAGAT	0.557000														33			7		0	0	0.000442599	0	0
MUC16	94025	broad.mit.edu	37	19	9048749	9048749	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:9048749G>A	uc002mkp.3	-	4	33086	c.32882C>T	c.(32881-32883)aCc>aTc	p.T10961I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10963	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAAGGTGTGGTCTCTGGTTC	0.502000														70			11		0	0	0.000978159	0	0
ZNF592	9640	broad.mit.edu	37	15	85326475	85326475	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:85326475C>T	uc002bld.3	+	3	905	c.569C>T	c.(568-570)cCg>cTg	p.P190L	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	190					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCTAAGTTTCCGGTTCCAGAG	0.547000														87			51		0	0	0.00361006	0	0
ITGB6	3694	broad.mit.edu	37	2	161052042	161052042	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:161052042G>A	uc002ubh.2	-	3	446	c.431C>T	c.(430-432)tCc>tTc	p.S144F	ITGB6_uc010fow.1_Non-coding_Transcript|ITGB6_uc010fou.2_Missense_Mutation_p.S144F|ITGB6_uc010zcq.1_Missense_Mutation_p.S102F|ITGB6_uc010fov.1_Missense_Mutation_p.S144F	NM_000888	NP_000879	P18564	ITB6_HUMAN	Homo sapiens integrin, beta 6 (ITGB6), mRNA.	144	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	p.A143T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GTCATCCATGGAGGCGGAGAG	0.522000														40			46		0	0	0.00361006	0	0
UGT3A1	133688	broad.mit.edu	37	5	35954472	35954472	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:35954472C>T	uc003jjv.2	-	6	1597	c.1404G>A	c.(1402-1404)gcG>gcA	p.A468A	UGT3A1_uc003jjw.2_Non-coding_Transcript	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	468						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGAGGTGCGTCGCTCCCCCAG	0.617000														19			10		0	0	0.000442599	0	0
IL21R	50615	broad.mit.edu	37	16	27445682	27445682	+	Missense_Mutation	SNP	G	A	A	rs149169230		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:27445682G>A	uc002dor.2	+	3	678	c.130G>A	c.(130-132)Gac>Aac	p.D44N	IL21R_uc002doq.2_Missense_Mutation_p.D22N|IL21R_uc002dos.2_Missense_Mutation_p.D22N	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	22					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GGGCTGCCCCGACCTCGTCTG	0.632000			T	BCL6	NHL									27			15		0	0	0.000566183	0	0
PET112	5188	broad.mit.edu	37	4	152593939	152593939	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:152593939G>A	uc003iml.3	-	11	1561	c.1520C>T	c.(1519-1521)tCt>tTt	p.S507F	PET112_uc003imk.3_Non-coding_Transcript	NM_004564	NP_004555	O75879	GATB_HUMAN	Homo sapiens PET112 homolog (yeast) (PET112), nuclear gene encoding mitochondrial protein, mRNA.	507						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTCCATCACAGAGTGGCAGAG	0.597000														22			15		0	0	0.000958276	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60242058	60242058	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr18:60242058C>T	uc002lip.4	+	12	2744	c.2744C>T	c.(2743-2745)tCc>tTc	p.S915F	ZCCHC2_uc002lio.2_Non-coding_Transcript|ZCCHC2_uc002liq.3_Missense_Mutation_p.S385F	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	Homo sapiens zinc finger, CCHC domain containing 2 (ZCCHC2), mRNA.	915					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						CCACCAGCTTCCTACCCCTTA	0.592000														48			4		0	0	0.000602214	0	0
RPL14	9045	broad.mit.edu	37	3	40503610	40503610	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:40503610C>T	uc003ckg.3	+	5	586	c.535C>T	c.(535-537)Cct>Tct	p.P179S	RPL14_uc003ckh.3_Missense_Mutation_p.P179S	NM_003973	NP_003964	P50914	RL14_HUMAN	Homo sapiens ribosomal protein L14 (RPL14), transcript variant 2, mRNA.	179	4 X 5 AA tandem repeats of Q-K-A-[PAS]-X.				endocrine pancreas development|rRNA processing|ribosomal large subunit biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|protein binding|structural constituent of ribosome								KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCAGAAGGTTCCTGCCCAGAA	0.552000														15			5		0	0	0.000602214	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54932736	54932736	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:54932736C>T	uc001sgc.4	+	29	3331	c.3252C>T	c.(3250-3252)tcC>tcT	p.S1084S	NCKAP1L_uc010sox.2_Silent_p.S626S|NCKAP1L_uc010soy.2_Silent_p.S1034S	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	1084					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ATCGAGAATCCATTTCTCTGC	0.453000														33			7		0	0	0.000442599	0	0
GPR179	440435	broad.mit.edu	37	17	36484369	36484369	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:36484369C>T	uc002hpz.3	-	10	5104	c.5083G>A	c.(5083-5085)Gaa>Aaa	p.E1695K		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1695						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E1694E(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GTCAAGTTTTCCTCCACATCC	0.552000														34			32		0	0	0.0024448	0	0
TGFBR3	7049	broad.mit.edu	37	1	92185583	92185583	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:92185583G>A	uc001doh.3	-	8	1795	c.1280C>T	c.(1279-1281)cCt>cTt	p.P427L	TGFBR3_uc009wde.3_Missense_Mutation_p.P204L|TGFBR3_uc010osy.2_Missense_Mutation_p.P385L|TGFBR3_uc001doi.3_Missense_Mutation_p.P426L|TGFBR3_uc001doj.3_Missense_Mutation_p.P426L	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA.	427					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	PDZ domain binding|SMAD binding|coreceptor activity|heparin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	p.P427H(2)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GGGAATGACAGGGTCCTTTGG	0.522000														113			44		0	0	0.00285205	0	0
CD47	961	broad.mit.edu	37	3	107777218	107777218	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:107777218G>A	uc003dwt.1	-	5	930	c.750C>T	c.(748-750)atC>atT	p.I250I	CD47_uc003dwv.1_Silent_p.I250I	NM_001777	NP_001768	Q08722	CD47_HUMAN	Homo sapiens CD47 molecule (CD47), transcript variant 1, mRNA.	250					blood coagulation|cell adhesion|cell junction assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to plasma membrane	protein binding|thrombospondin receptor activity			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			CCACAGCGAGGATATAGGCTA	0.428000														3			4		0	0	0.00024832	0	0
MZF1	7593	broad.mit.edu	37	19	59080689	59080689	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:59080689G>A	uc002qto.3	-	4	1288	c.727C>T	c.(727-729)Ccc>Tcc	p.P243S	LOC100131691_uc002qtm.3_Intron|MZF1_uc002qtn.3_Missense_Mutation_p.P243S|MZF1_uc010euu.1_Missense_Mutation_p.P284S	NM_198055	NP_932172	P28698	MZF1_HUMAN	Homo sapiens myeloid zinc finger 1 (MZF1), transcript variant 2, mRNA.	243					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		AGGGCCCTGGGGTGCTCCCTC	0.607000														19			10		0	0	0.000442599	0	0
ALPK2	115701	broad.mit.edu	37	18	56196448	56196448	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr18:56196448G>A	uc002lhj.4	-	5	5590	c.5376C>T	c.(5374-5376)atC>atT	p.I1792I	ALPK2_uc002lhk.1_Silent_p.I1123I	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1792	Ig-like 2.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCTCAGCTTGGATCTTTTTCA	0.348000														29			29		0	0	0.00209593	0	0
CACNG2	10369	broad.mit.edu	37	22	36960624	36960624	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:36960624G>A	uc003aps.2	-	3	815	c.746C>T	c.(745-747)tCc>tTc	p.S249F		NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA.	249					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GGCGTCCCTGGAGTGTGAGGG	0.682000														70			40		0	0	0.00285205	0	0
POTEE	445582	broad.mit.edu	37	2	131984464	131984464	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:131984464G>A	uc002tsn.2	+	3	931	c.879G>A	c.(877-879)aaG>aaA	p.K293K	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	293							ATP binding										TTTTAATCAAGAAAAAAGCGA	0.343000														43			16		0	0	0.00395357	0	0
C12orf42	374470	broad.mit.edu	37	12	103795435	103795435	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:103795435G>A	uc001tjt.2	-	2	185	c.97C>T	c.(97-99)Ccc>Tcc	p.P33S	C12orf42_uc001tjs.3_Non-coding_Transcript|C12orf42_uc009zuf.1_Missense_Mutation_p.P33S|C12orf42_uc001tju.2_5'UTR	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	Homo sapiens chromosome 12 open reading frame 42 (C12orf42), transcript variant 1, mRNA.	33										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CTCACAATGGGAATATAGCAA	0.433000														34			9		0	0	0.000673444	0	0
OR52K2	119774	broad.mit.edu	37	11	4471496	4471496	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:4471496C>T	uc001lyz.2	+	0	972	c.927C>T	c.(925-927)ttC>ttT	p.F309F		NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 2 (OR52K2), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGGAGTATTCCCAAGAAAGG	0.493000														15			10		0	0	0.000442599	0	0
CPPED1	55313	broad.mit.edu	37	16	12758853	12758853	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:12758853G>A	uc002dca.4	-	3	946	c.835C>T	c.(835-837)Cga>Tga	p.R279*	CPPED1_uc002dcb.4_Nonsense_Mutation_p.R137*	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	Homo sapiens calcineurin-like phosphoesterase domain containing 1 (CPPED1), transcript variant 1, mRNA.	279							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						ACCACGACTCGGAGCCCGTGG	0.537000														49			38		0	0	0.00111076	0	0
MYPOP	339344	broad.mit.edu	37	19	46393958	46393958	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:46393958G>A	uc002pdt.3	-	2	1210	c.1123C>T	c.(1123-1125)Ccg>Tcg	p.P375S		NM_001012643	NP_001012661	Q86VE0	MYPOP_HUMAN	Homo sapiens Myb-related transcription factor, partner of profilin (MYPOP), mRNA.	375	Pro-rich.					nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						GAGTCGTGCGGAGGGAGCGGG	0.647000														15			4		0	0	0.000602214	0	0
FBLN2	2199	broad.mit.edu	37	3	13659764	13659764	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:13659764G>A	uc011avc.2	+	5	2300	c.1918G>A	c.(1918-1920)Gat>Aat	p.D640N	FBLN2_uc011auz.2_Missense_Mutation_p.D666N|FBLN2_uc011avb.2_Missense_Mutation_p.D640N|FBLN2_uc011ava.2_Missense_Mutation_p.D640N	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	640	EGF-like 1; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			ACTGCAGGACGATGGCCGCAC	0.612000														38			15		0	0	0.00316338	0	0
AHDC1	27245	broad.mit.edu	37	1	27876003	27876003	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:27876003G>A	uc021ojw.1	-	0	2624	c.2624C>T	c.(2623-2625)cCc>cTc	p.P875L	AHDC1_uc009vsy.3_Missense_Mutation_p.P875L|AHDC1_uc009vsz.1_Missense_Mutation_p.P875L	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	875							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GGCACTGGTGGGTGGCCCTGC	0.687000														16			22		0	0	0.00229938	0	0
ATXN1	6310	broad.mit.edu	37	6	16327052	16327052	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:16327052G>A	uc003nbt.3	-	7	2461	c.1490C>T	c.(1489-1491)aCt>aTt	p.T497I	ATXN1_uc010jpi.3_Missense_Mutation_p.T497I|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	497	Self-association.				RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TTCCATGTCAGTGCTGCCGAC	0.662000														77			70		0	0	0.00361006	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926593	157926593	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:157926593C>T	uc003wno.3	-	8	1453	c.1332G>A	c.(1330-1332)gtG>gtA	p.V444V	PTPRN2_uc003wnp.3_Silent_p.V427V|PTPRN2_uc003wnq.3_Silent_p.V444V|PTPRN2_uc003wnr.3_Silent_p.V406V|PTPRN2_uc011kwa.2_Silent_p.V467V	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	444						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TGACGTTCTCCACTCCGGCAG	0.602000														73			28		0	0	0.00209593	0	0
AMFR	267	broad.mit.edu	37	16	56397846	56397846	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:56397846G>A	uc002eiy.3	-	12	1976	c.1771C>T	c.(1771-1773)Cag>Tag	p.Q591*	AMFR_uc002eix.3_Nonsense_Mutation_p.Q225*	NM_001144	NP_001135	Q9UKV5	AMFR2_HUMAN	Homo sapiens autocrine motility factor receptor (AMFR), mRNA.	591					ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						CGAGCTTGCTGGAGGAGTTCG	0.547000														31			11		0	0	0.000978159	0	0
GPSM1	26086	broad.mit.edu	37	9	139252515	139252516	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:139252515_139252516GG>AT	uc004chd.2	+	13	2091_2092	c.1871_1872GG>AT	c.(1870-1872)cgg>cAT	p.R624H	GPSM1_uc011mdu.1_Missense_Mutation_p.R115H|GPSM1_uc022bpn.1_Missense_Mutation_p.R115H|GPSM1_uc004che.2_Missense_Mutation_p.R115H	NM_001145638	NP_001139110	Q86YR5	GPSM1_HUMAN	Homo sapiens G-protein signaling modulator 1 (GPSM1), transcript variant 1, mRNA.	624					cell differentiation|nervous system development|signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|plasma membrane	GTPase activator activity|binding			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GTACTGCCCCGGGGCCCTACCA	0.688000														15			16		0	0	6.4e-05	0	0
UPK3B	80761	broad.mit.edu	37	7	76140982	76140982	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:76140982G>A	uc003ufq.3	+	1	634	c.409G>A	c.(409-411)Ggc>Agc	p.G137S	UPK3B_uc003ufo.3_Missense_Mutation_p.G82S|UPK3B_uc010ldk.1_Missense_Mutation_p.G82S	NM_030570	NP_085047	Q9BT76	UPK3B_HUMAN	Homo sapiens uroplakin 3B (UPK3B), transcript variant 1, mRNA.	137					negative regulation of gene expression	integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				AGCCTCCAGGGGCTTCCAGAA	0.622000														8			8		0	0	0.000673444	0	0
CRB1	23418	broad.mit.edu	37	1	197390751	197390751	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:197390751C>T	uc001gtz.3	+	5	2002	c.1793C>T	c.(1792-1794)cCa>cTa	p.P598L	CRB1_uc010poz.2_Missense_Mutation_p.P529L|CRB1_uc009wza.3_Missense_Mutation_p.P486L|CRB1_uc010ppa.2_Intron|CRB1_uc010ppb.2_Missense_Mutation_p.P598L|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.P79L|CRB1_uc001gub.1_Missense_Mutation_p.P247L	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	598	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GCTCCTACTCCACTTGAAAGT	0.448000														86			19		0	0	0.000958276	0	0
C3orf56	285311	broad.mit.edu	37	3	126916110	126916110	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:126916110C>T	uc003eji.1	+	1	822	c.582C>T	c.(580-582)ttC>ttT	p.F194F						RecName: Full=Putative uncharacterized protein C3orf56;											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		CCTCCAGGTTCGGTATTTGGG	0.632000														20			17		0	0	0.00121646	0	0
RAI1	10743	broad.mit.edu	37	17	17699091	17699091	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:17699091G>A	uc002grm.3	+	2	3298	c.2829G>A	c.(2827-2829)gaG>gaA	p.E943E	RAI1_uc002grn.1_Silent_p.E943E	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	943						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCTGGTTTGAGTCCTCTCTGT	0.642000														12			17		0	0	0.000958276	0	0
PROM1	8842	broad.mit.edu	37	4	16040580	16040580	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:16040580C>T	uc003goo.2	-	1	477	c.265G>A	c.(265-267)Gat>Aat	p.D89N	PROM1_uc003gor.2_Missense_Mutation_p.D89N|PROM1_uc003gos.2_Missense_Mutation_p.D89N|PROM1_uc003got.2_Missense_Mutation_p.D89N|PROM1_uc003gou.2_Missense_Mutation_p.D89N|PROM1_uc003gop.2_Missense_Mutation_p.D89N|PROM1_uc003goq.3_Missense_Mutation_p.D89N|PROM1_uc010iec.1_5'UTR	NM_006017	NP_006008	O43490	PROM1_HUMAN	Homo sapiens prominin 1 (PROM1), transcript variant 1, mRNA.	89					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TTGTCATAATCAATTTTGGAT	0.249000														22			6		0	0	0.00307968	0	0
DNAH5	1767	broad.mit.edu	37	5	13762855	13762855	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:13762855T>C	uc003jfd.2	-	59	10299	c.10257A>G	c.(10255-10257)atA>atG	p.I3419M	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3419	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTCTTTGTTTATAGAAAAGA	0.478000									Kartagener syndrome					29			26		0	0	0.00127121	0	0
ZNF527	84503	broad.mit.edu	37	19	37880761	37880761	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:37880761C>T	uc010efk.1	+	4	1921	c.1810C>T	c.(1810-1812)Cat>Tat	p.H604Y	ZNF527_uc002ogf.3_Missense_Mutation_p.H572Y|ZNF527_uc010xtq.1_Non-coding_Transcript	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	Homo sapiens zinc finger protein 527 (ZNF527), mRNA.	604					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H604R(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAGAGAATTCATAATAGAGA	0.343000														57			31		0	0	0.00428921	0	0
FAM75A6	389730	broad.mit.edu	37	9	43627581	43627581	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:43627581G>A	uc011lrb.2	-	3	1135	c.1106C>T	c.(1105-1107)tCa>tTa	p.S369L		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	369						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						AGCATCCAATGATTTAGCCAA	0.443000														343			10		0	0	0.000978159	0	0
C15orf48	84419	broad.mit.edu	37	15	45723006	45723006	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:45723006C>T	uc001zvg.3	+	1	130	c.12C>T	c.(10-12)ttC>ttT	p.F4F	C15orf48_uc001zvh.3_Silent_p.F4F|C15orf48_uc021skp.1_5'Flank	NM_197955	NP_922946	Q9C002	NMES1_HUMAN	Homo sapiens chromosome 15 open reading frame 48 (C15orf48), transcript variant 1, mRNA.	4						nucleus				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)		TGAGCTTTTTCCAACTCCTGA	0.373000											OREG0023107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		45			11		0	0	0.00244969	0	0
C5orf55	116349	broad.mit.edu	37	5	442795	442795	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:442795A>C	uc010ita.3	-	0	464	c.143T>G	c.(142-144)gTc>gGc	p.V48G	EXOC3_uc003jba.3_5'Flank	NM_138464	NP_612473	Q8N2X6	CE055_HUMAN	Homo sapiens chromosome 5 open reading frame 55 (C5orf55), mRNA.	48						extracellular region				large_intestine(1)|lung(2)	3						GGCAGGTATGACAGACGTTTG	0.597000														188			8		0	0	0.00307968	0	0
MPP6	51678	broad.mit.edu	37	7	24703293	24703293	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:24703293G>A	uc003swx.3	+	6	1035	c.736G>A	c.(736-738)Gga>Aga	p.G246R	MPP6_uc003swy.3_Missense_Mutation_p.G246R	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	246	SH3.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						GTTTTCCAAAGGAGAGATTCT	0.343000														65			23		0	0	0.000720815	0	0
COL2A1	1280	broad.mit.edu	37	12	48372520	48372520	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:48372520G>A	uc001rqu.3	-	41	2936	c.2755C>T	c.(2755-2757)Ccc>Tcc	p.P919S	COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.P850S	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	919	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGACCAGGGGGACCAGGGGGT	0.617000														32			10		0	0	0.000978159	0	0
MED13	9969	broad.mit.edu	37	17	60030366	60030366	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:60030366G>A	uc002izo.3	-	26	6154	c.6077C>T	c.(6076-6078)tCt>tTt	p.S2026F		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	2026					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGATCCTGGAGAATGTACAGG	0.458000														86			47		0	0	0.00361006	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975907	76975907	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:76975907G>A	uc002snr.3	-	3	2102	c.1687C>T	c.(1687-1689)Ctg>Ttg	p.L563L	LRRTM4_uc002snq.3_Silent_p.L563L	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.	563						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CCCAGCTCCAGGCCGGGGCTT	0.597000														106			18		0	0	0.00152264	0	0
RFX4	5992	broad.mit.edu	37	12	106995101	106995101	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:106995101G>A	uc001tlt.3	+	0	187	c.47G>A	c.(46-48)aGg>aAg	p.R16K	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Intron|RFX4_uc010swv.2_Non-coding_Transcript|RFX4_uc001tls.3_Missense_Mutation_p.R16K	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	0					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GACAGGACCAGGCCTCGACGG	0.672000														5			3		0	0	6.4e-05	0	0
KCNT2	343450	broad.mit.edu	37	1	196438197	196438197	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:196438197C>T	uc001gtd.1	-	6	445	c.385_splice	c.e6-1	p.G129_splice	KCNT2_uc009wyt.1_5'Flank|KCNT2_uc001gte.1_Splice_Site_p.G129_splice|KCNT2_uc001gtf.1_Splice_Site_p.G129_splice|KCNT2_uc001gtg.1_Splice_Site|KCNT2_uc009wyu.3_Splice_Site_p.G129_splice|KCNT2_uc009wyv.1_Intron	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	129						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CCAGATGTTTCCCTTCCAAGA	0.343000														11			4		0	0	0.00024832	0	0
AGBL1	123624	broad.mit.edu	37	15	86807805	86807805	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:86807805G>A	uc002blz.1	+	9	1345	c.1265G>A	c.(1264-1266)tGg>tAg	p.W422*	AGBL1_uc002bma.1_Nonsense_Mutation_p.W153*|AGBL1_uc002bmb.1_Nonsense_Mutation_p.W116*	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	422					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GCAGATGCCTGGGACGTAGAT	0.443000														74			24		0	0	0.00278032	0	0
BIRC5	332	broad.mit.edu	37	17	76212781	76212781	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:76212781C>T	uc002jvg.3	+	2	379	c.258C>T	c.(256-258)ttC>ttT	p.F86F	BIRC5_uc002jve.1_Intron|BIRC5_uc002jvd.1_Silent_p.F109F|BIRC5_uc010dhl.1_Silent_p.F134F|BIRC5_uc010dhk.1_Non-coding_Transcript|BIRC5_uc002jvf.3_Silent_p.F109F|BIRC5_uc002jvh.3_Intron|BIRC5_uc002jvi.3_Non-coding_Transcript	NM_001168	NP_001159	O15392	BIRC5_HUMAN	Homo sapiens baculoviral IAP repeat containing 5 (BIRC5), transcript variant 1, mRNA.	86					G2/M transition of mitotic cell cycle|anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule	Ran GTPase binding|caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			kidney(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			GTTGCGCTTTCCTTTCTGTCA	0.413000														80			35		0	0	0.00375469	0	0
FGD6	55785	broad.mit.edu	37	12	95488460	95488460	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:95488460C>A	uc001tdp.4	-	14	3732	c.3508G>T	c.(3508-3510)Gaa>Taa	p.E1170*	FGD6_uc009zsx.3_Nonsense_Mutation_p.E303*|FGD6_uc001tdq.1_Nonsense_Mutation_p.E206*	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	1170	PH 1.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	p.E1170*(2)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TCATCCCTTTCTGTGGCAGAA	0.423000														73			56		1.48341e-19	3.39601e-19	0.00361006	1	0
CES1	1066	broad.mit.edu	37	16	55855416	55855416	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:55855416C>T	uc002eim.3	-	4	662	c.554G>A	c.(553-555)aGc>aAc	p.S185N	CES1_uc002eil.3_Missense_Mutation_p.S186N|CES1_uc002ein.3_Missense_Mutation_p.S185N	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	185					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GTTCCCCCGGCTGTGTTCATC	0.597000														19			10		0	0	0.00136819	0	0
SLC38A4	55089	broad.mit.edu	37	12	47170749	47170749	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:47170749G>A	uc001rpi.2	-	12	1511	c.1112C>T	c.(1111-1113)tCc>tTc	p.S371F	SLC38A4_uc001rpj.2_Missense_Mutation_p.S371F	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	371					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CCCCGTGATGGAAATATTTGA	0.398000														7			6		0	0	0.000274275	0	0
CYTIP	9595	broad.mit.edu	37	2	158300411	158300411	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:158300411C>T	uc002tzj.1	-	0	194	c.122G>A	c.(121-123)aGg>aAg	p.R41K	CYTIP_uc010zcl.1_Intron	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	41					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CATTTGAATCCTTCTATTATC	0.502000														47			33		0	0	0.00428921	0	0
CPXM2	119587	broad.mit.edu	37	10	125530445	125530445	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:125530445C>T	uc001lhk.1	-	7	1414	c.1089G>A	c.(1087-1089)ggG>ggA	p.G363G	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	363					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CTTCATGCTCCCCAGGGTGAT	0.478000														145			47		0	0	0.00361006	0	0
FAT1	2195	broad.mit.edu	37	4	187509767	187509767	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:187509767G>A	uc003izf.3	-	26	13934	c.13746C>T	c.(13744-13746)tcC>tcT	p.S4582S	FAT1_uc010isn.3_Silent_p.S229S	NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	4582					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGTGCTGCTGGGAATCCAGGG	0.562000										HNSCC(5;0.00058)				10			16		0	0	0.000958276	0	0
CDK11B	984	broad.mit.edu	37	1	1635549	1635549	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:1635549G>A	uc009vks.3	-	15	1831	c.1723C>T	c.(1723-1725)Cct>Tct	p.P575S	CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.4_Intron|CDK11B_uc001ahj.4_Missense_Mutation_p.P82S|CDK11B_uc009vkp.3_Missense_Mutation_p.P192S|CDK11B_uc009vkq.3_Intron|CDK11B_uc009vkr.3_Missense_Mutation_p.P565S	NM_024011	NP_076916	P21127	CD11B_HUMAN	Homo sapiens cyclin-dependent kinase 11A (CDK11A), transcript variant 1, mRNA.	590	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						GCCTTCAGAGGGGATCCGTAC	0.682000														7			8		0	0	0.00307968	0	0
CRISP2	7180	broad.mit.edu	37	6	49676848	49676848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:49676848C>T	uc003ozn.2	-	3	298	c.62G>A	c.(61-63)gGa>gAa	p.G21E	CRISP2_uc003ozr.2_Missense_Mutation_p.G21E|CRISP2_uc003ozo.2_Missense_Mutation_p.G21E|CRISP2_uc003ozm.2_Missense_Mutation_p.G21E|CRISP2_uc003ozp.2_Missense_Mutation_p.G21E|CRISP2_uc003ozq.2_Missense_Mutation_p.G21E|CRISP2_uc003ozl.2_Missense_Mutation_p.G21E	NM_001142417	NP_003287	P16562	CRIS2_HUMAN	Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 4, mRNA.	21						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CCTTACCTTTCCTTCTGCAGG	0.413000														34			7		0	0	0.00307968	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111896267	111896267	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:111896267C>T	uc001vrs.2	+	7	1121	c.871C>T	c.(871-873)Cag>Tag	p.Q291*	ARHGEF7_uc001vrr.2_Nonsense_Mutation_p.Q270*|ARHGEF7_uc001vrt.2_Nonsense_Mutation_p.Q241*|ARHGEF7_uc010tjn.1_Intron|ARHGEF7_uc001vrv.4_Nonsense_Mutation_p.Q113*|ARHGEF7_uc001vrw.4_Nonsense_Mutation_p.Q113*|ARHGEF7_uc001vrx.4_Nonsense_Mutation_p.Q113*|ARHGEF7_uc010tjo.2_Nonsense_Mutation_p.Q188*|ARHGEF7_uc010tjp.1_Nonsense_Mutation_p.Q35*|ARHGEF7_uc010agn.1_Nonsense_Mutation_p.Q35*	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 7 (ARHGEF7), transcript variant 3, mRNA.	291	DH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TAAAGAACTTCAGACTGTGCT	0.318000														19			14		0	0	0.00244969	0	0
ADAM32	203102	broad.mit.edu	37	8	39103614	39103614	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:39103614C>T	uc003xmt.4	+	16	2076	c.1831C>T	c.(1831-1833)Cgt>Tgt	p.R611C	ADAM32_uc011lch.2_Missense_Mutation_p.R512C|ADAM32_uc003xmu.4_Missense_Mutation_p.R505C|ADAM32_uc003xmv.3_Missense_Mutation_p.R35C	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	611					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TTGTGTAAATCGTGAATGTGT	0.343000														43			17		0	0	0.000958276	0	0
BRWD1	54014	broad.mit.edu	37	21	40665885	40665885	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:40665885G>A	uc002yxk.2	-	7	978	c.683C>T	c.(682-684)tCt>tTt	p.S228F	BRWD1_uc021wjf.1_Missense_Mutation_p.S228F	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AATTTCTGCAGAATGACCTCT	0.363000														36			19		0	0	0.000958276	0	0
SLC12A5	57468	broad.mit.edu	37	20	44684844	44684844	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:44684844A>G	uc010zxl.1	+	21	2988	c.2912A>G	c.(2911-2913)aAc>aGc	p.N971S	SLC12A5_uc002xrb.2_Missense_Mutation_p.N948S	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	971					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.V971E(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AATCCAGCCAACACGCGGCTC	0.572000														40			31		0	0	0.0024448	0	0
ZAN	7455	broad.mit.edu	37	7	100333359	100333359	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:100333359G>A	uc003uwj.3	+	2	235	c.70G>A	c.(70-72)Gac>Aac	p.D24N	ZAN_uc003uwk.3_Missense_Mutation_p.D24N|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	24					binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GAAGCCTCCGGACCAGAAGCT	0.478000														12			10		0	0	0.000978159	0	0
UBE2MP1	606551	broad.mit.edu	37	16	34404367	34404367	+	RNA	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:34404367C>T	uc002edv.1	-	0		c.396G>A								Homo sapiens ubiquitin-conjugating enzyme E2M pseudogene 1 (UBE2MP1), non-coding RNA.																		TAACCCTGGCCCACCTTAAAA	0.507000														46			26		0	0	0.00127121	0	0
RIN3	79890	broad.mit.edu	37	14	93125560	93125560	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:93125560C>T	uc001yap.3	+	6	2233	c.2081C>T	c.(2080-2082)gCc>gTc	p.A694V	RIN3_uc010auk.3_Missense_Mutation_p.A356V|RIN3_uc001yaq.3_Missense_Mutation_p.A619V|RIN3_uc001yar.1_Missense_Mutation_p.A356V|RIN3_uc001yas.1_Missense_Mutation_p.A356V	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	694	Interaction with RAB5B.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CTGAAGGAAGCCATCAACTCA	0.522000														202			74		0	0	0.00361006	0	0
POLL	27343	broad.mit.edu	37	10	103339389	103339389	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:103339389G>A	uc001ktg.1	-	7	2315	c.1549C>T	c.(1549-1551)Cga>Tga	p.R517*	DPCD_uc010qpz.2_Intron|POLL_uc001ktd.1_Nonsense_Mutation_p.R190*|POLL_uc001kte.1_Nonsense_Mutation_p.R209*|POLL_uc001kth.1_Nonsense_Mutation_p.R242*|POLL_uc001ktj.2_Nonsense_Mutation_p.R517*|POLL_uc010qqb.2_Non-coding_Transcript|POLL_uc001ktf.3_Nonsense_Mutation_p.R425*|POLL_uc001kti.2_Nonsense_Mutation_p.R517*|POLL_uc001ktl.3_Nonsense_Mutation_p.R429*|POLL_uc001ktm.3_Nonsense_Mutation_p.R517*|POLL_uc010qqc.2_Nonsense_Mutation_p.R209*|POLL_uc010qqa.2_Nonsense_Mutation_p.R256*	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN	Homo sapiens polymerase (DNA directed), lambda (POLL), transcript variant 2, mRNA.	517					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GCCAGGGCTCGCATGGAGCGG	0.627000								DNA polymerases (catalytic subunits)						68			22		0	0	0.00395357	0	0
SERPINB2	5055	broad.mit.edu	37	18	61565055	61565055	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr18:61565055C>T	uc010xeu.2	+	5	845	c.512C>T	c.(511-513)tCc>tTc	p.S171F	SERPINB2_uc002ljo.3_Missense_Mutation_p.S171F|SERPINB2_uc002ljp.1_5'UTR|SERPINB2_uc002ljq.1_5'UTR	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	171					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.S171F(2)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	AAGATTAATTCCTGGGTCAAG	0.343000														7			19		0	0	0.00188189	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524132	24524132	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:24524132C>T	uc002wtw.1	+	1	1032	c.399C>T	c.(397-399)ttC>ttT	p.F133F		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	133					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						ATGGGAAGTTCATTGACCTCT	0.587000														91			48		0	0	0.00361006	0	0
FAM131B	9715	broad.mit.edu	37	7	143053712	143053712	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:143053712C>T	uc010lpa.3	-	6	1158	c.1014G>A	c.(1012-1014)cgG>cgA	p.R338R	FAM131B_uc010loz.3_Silent_p.R278R|FAM131B_uc003wct.3_Silent_p.R310R|FAM131B_uc003wcu.4_Silent_p.R310R	NM_001031690	NP_055505	Q86XD5	F131B_HUMAN	Homo sapiens family with sequence similarity 131, member B (FAM131B), transcript variant a, mRNA.	310										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					CAGACACCTTCCGGCTGAGAG	0.587000														114			54		0	0	0.00361006	0	0
CSMD2	114784	broad.mit.edu	37	1	34080165	34080165	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:34080165G>A	uc001bxm.1	-	39	6249	c.6072C>T	c.(6070-6072)ttC>ttT	p.F2024F	CSMD2_uc001bxn.1_Silent_p.F1984F|CSMD2_uc001bxo.1_Silent_p.F897F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1984	CUB 12.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGTTGCCTGGGAAGCCGGGGC	0.577000														23			10		0	0	0.000978159	0	0
ADCY8	114	broad.mit.edu	37	8	131792904	131792904	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:131792904C>T	uc003ytd.4	-	17	3744	c.3488G>A	c.(3487-3489)gGa>gAa	p.G1163E	ADCY8_uc010mds.3_Missense_Mutation_p.G1032E	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	1163					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.G1163*(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTTGATTTTTCCTTCCTGTTC	0.512000										HNSCC(32;0.087)				56			30		0	0	0.00283554	0	0
SNX10	29887	broad.mit.edu	37	7	26404214	26404214	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:26404214C>T	uc011jzg.2	+	4	507	c.240C>T	c.(238-240)ttC>ttT	p.F80F	SNX10_uc003sxx.3_Silent_p.F57F|SNX10_uc010kuu.3_Silent_p.F57F|SNX10_uc010kuv.3_Silent_p.F54F|SNX10_uc010kuw.3_Intron	NM_001199838	NP_001186767	Q9Y5X0	SNX10_HUMAN	Homo sapiens sorting nexin 10 (SNX10), transcript variant 4, mRNA.	57	PX.				cell communication|endosome organization|protein transport	extrinsic to endosome membrane	1-phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						ATAGAGAATTCGTGTGGCTGA	0.358000														29			22		0	0	0.000720815	0	0
PDE2A	5138	broad.mit.edu	37	11	72288586	72288586	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:72288586A>G	uc010rrc.2	-	30	2914	c.2668T>C	c.(2668-2670)Tcc>Ccc	p.S890P	PDE2A_uc001oso.3_Missense_Mutation_p.S869P|PDE2A_uc010rra.2_Missense_Mutation_p.S883P|PDE2A_uc001osn.3_Missense_Mutation_p.S634P|PDE2A_uc010rrb.2_Missense_Mutation_p.S881P|PDE2A_uc010rrd.2_Missense_Mutation_p.S775P	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	890	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	TCACGGTTGGAGGCCACGCGC	0.617000														295			66		0	0	0.00361006	0	0
ERBB4	2066	broad.mit.edu	37	2	212251679	212251679	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:212251679C>T	uc002veg.1	-	26	3478	c.3380G>A	c.(3379-3381)aGg>aAg	p.R1127K	ERBB4_uc002veh.1_Missense_Mutation_p.R1111K|ERBB4_uc010zji.1_Missense_Mutation_p.R1117K|ERBB4_uc010zjj.1_Missense_Mutation_p.R1101K	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	1127					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.Q1126*(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		AGCACTGTACCTCTGGGTGCT	0.552000										TSP Lung(8;0.080)				37			14		0	0	0.000566183	0	0
CCR1	1230	broad.mit.edu	37	3	46245260	46245260	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:46245260G>A	uc003cph.1	-	1	616	c.545C>T	c.(544-546)aCc>aTc	p.T182I	CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Missense_Mutation_p.T182I	NM_001295	NP_001286	P32246	CCR1_HUMAN	Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.	182					G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AAGGCTGCAGGTGTGGTGAGT	0.498000														70			27		0	0	0.00127121	0	0
C10orf71	118461	broad.mit.edu	37	10	50531678	50531678	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:50531678G>A	uc021pqb.1	+	0	1088	c.1088G>A	c.(1087-1089)gGa>gAa	p.G363E	C10orf71_uc021pqa.1_Missense_Mutation_p.G362E|C10orf71_uc021pqc.1_Missense_Mutation_p.G363E	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	363										endometrium(1)	1						GCTGTGGAAGGAAAAGCTCCC	0.532000														35			23		0	0	0.00332997	0	0
GPR98	84059	broad.mit.edu	37	5	90106233	90106233	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:90106233G>A	uc003kju.3	+	73	15252	c.15156G>A	c.(15154-15156)ctG>ctA	p.L5052L	GPR98_uc003kjt.3_Silent_p.L2758L|GPR98_uc003kjw.3_Silent_p.L713L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5052					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCAAGCCACTGGAAGATTTTG	0.373000														24			14		0	0	0.00244969	0	0
NEB	4703	broad.mit.edu	37	2	152527573	152527573	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:152527573C>T	uc021vrb.1	-	35	4499	c.4470G>A	c.(4468-4470)atG>atA	p.M1490I	NEB_uc002txu.3_Missense_Mutation_p.M1490I|NEB_uc021vrc.1_Missense_Mutation_p.M1490I|NEB_uc010fnx.3_Missense_Mutation_p.M1490I|NEB_uc021vrd.1_Missense_Mutation_p.M1490I	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1490					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GAGCCAACACCATGCCCATGG	0.478000														39			7		0	0	0.000978159	0	0
SLC17A6	57084	broad.mit.edu	37	11	22399212	22399212	+	Missense_Mutation	SNP	G	A	A	rs138159912		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:22399212G>A	uc001mqk.3	+	11	2088	c.1675G>A	c.(1675-1677)Gaa>Aaa	p.E559K		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	559					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TAGTGGTTGGGAAAAGAAAGA	0.368000														13			7		0	0	0.00307968	0	0
JAK3	3718	broad.mit.edu	37	19	17937601	17937601	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:17937601G>A	uc002nhn.4	-	23	3426	c.3326C>T	c.(3325-3327)gCc>gTc	p.A1109V	JAK3_uc010ebh.3_Intron	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	1109	Protein kinase 2.				B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|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	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.A1109A(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						AGCAGTGAAGGCATGAGTCTC	0.622000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""									51			32		0	0	0.00283554	0	0
MUC16	94025	broad.mit.edu	37	19	8997151	8997151	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:8997151G>A	uc002mkp.3	-	59	41249	c.41045C>T	c.(41044-41046)cCt>cTt	p.P13682L	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.P499L|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13684	SEA 11.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGTACAGAGGGCCAACACT	0.552000														45			16		0	0	0.00152264	0	0
TGFBI	7045	broad.mit.edu	37	5	135390545	135390545	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:135390545C>T	uc003lbf.4	+	9	1566	c.1405C>T	c.(1405-1407)Cgt>Tgt	p.R469C	TGFBI_uc003lbg.4_Missense_Mutation_p.R202C|TGFBI_uc003lbh.4_Missense_Mutation_p.R295C|TGFBI_uc011cyb.2_Missense_Mutation_p.R295C	NM_000358	NP_000349	Q15582	BGH3_HUMAN	Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA.	469	FAS1 3.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTTTGTTTATCGTAATGTAAG	0.423000														111			74		0	0	0.00361006	0	0
SRMS	6725	broad.mit.edu	37	20	62173646	62173646	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:62173646C>T	uc002yfi.1	-	4	857	c.816G>A	c.(814-816)aaG>aaA	p.K272K		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Homo sapiens src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (SRMS), mRNA.	272	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity	p.A271A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			TCTGGATCTCCTTGGCGAGGT	0.642000														33			22		0	0	0.000720815	0	0
MXD1	4084	broad.mit.edu	37	2	70143266	70143267	+	Missense_Mutation	DNP	TT	AC	AC			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:70143266_70143267TT>AC	uc002sfy.3	+	1	377_378	c.87_88TT>AC	c.(85-90)ggttat>ggACat	p.Y30H	MXD1_uc010yqp.2_Missense_Mutation_p.Y30H|MXD1_uc010yqs.2_Missense_Mutation_p.Y30H|MXD1_uc010yqq.2_5'UTR|MXD1_uc010yqr.2_Non-coding_Transcript	NM_002357	NP_002348	Q05195	MAD1_HUMAN	Homo sapiens MAX dimerization protein 1 (MXD1), transcript variant 1, mRNA.	30					cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						CTGAACATGGTTATGCCTCCAT	0.371000														16			9		0	0	6.4e-05	0	0
ZNF235	9310	broad.mit.edu	37	19	44791542	44791542	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:44791542G>A	uc002oza.4	-	4	2149	c.2046C>T	c.(2044-2046)ccC>ccT	p.P682P	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF235_uc002ozb.4_Silent_p.P678P	NM_004234	NP_004225	Q14590	ZN235_HUMAN	Homo sapiens zinc finger protein 235 (ZNF235), mRNA.	682					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				GACACGTATAGGGTTTCTCTC	0.493000														27			13		0	0	0.00185496	0	0
ZNF800	168850	broad.mit.edu	37	7	127013565	127013565	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:127013565C>T	uc010lla.2	-	4	2537	c.1825G>A	c.(1825-1827)Gta>Ata	p.V609I	ZNF800_uc003vlw.1_Missense_Mutation_p.V512I|ZNF800_uc003vlx.1_Missense_Mutation_p.V609I|ZNF800_uc003vly.1_Missense_Mutation_p.V609I	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	Homo sapiens zinc finger protein 800 (ZNF800), mRNA.	609					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						GTGACTTTTACTTCAATACCG	0.373000														49			29		0	0	0.001512	0	0
SLC16A7	9194	broad.mit.edu	37	12	60168834	60168834	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:60168834G>A	uc001sqs.3	+	4	1057	c.758G>A	c.(757-759)gGa>gAa	p.G253E	SLC16A7_uc001sqt.3_Missense_Mutation_p.G253E|SLC16A7_uc001squ.3_Missense_Mutation_p.G253E|SLC16A7_uc009zqi.3_Missense_Mutation_p.G154E|SLC16A7_uc010ssi.2_Missense_Mutation_p.G154E	NM_004731	NP_004722	O60669	MOT2_HUMAN	Homo sapiens solute carrier family 16, member 7 (monocarboxylic acid transporter 2) (SLC16A7), mRNA.	253						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	TATCTGTCTGGAAATGTCATT	0.348000														21			10		0	0	0.000673444	0	0
TRPV4	59341	broad.mit.edu	37	12	110231822	110231822	+	Silent	SNP	C	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:110231822C>G	uc001tpj.2	-	7	1592	c.1497G>C	c.(1495-1497)ccG>ccC	p.P499P	TRPV4_uc001tpg.2_Silent_p.P465P|TRPV4_uc021rdp.1_Silent_p.P439P|TRPV4_uc001tph.2_Silent_p.P452P|TRPV4_uc001tpi.2_Silent_p.P392P|TRPV4_uc001tpk.2_Silent_p.P499P	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	499					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding	p.P499S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GGTAAGGGTACGGCGGCTGGG	0.627000														17			4		0	0	0.00116845	0	0
FKRP	79147	broad.mit.edu	37	19	47259941	47259941	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:47259941C>T	uc002pfn.2	+	3	1531	c.1234C>T	c.(1234-1236)Cac>Tac	p.H412Y	FKRP_uc002pfp.2_Missense_Mutation_p.H412Y|FKRP_uc021uwj.1_Missense_Mutation_p.H412Y	NM_024301	NP_077277	Q9H9S5	FKRP_HUMAN	Homo sapiens fukutin related protein (FKRP), transcript variant 1, mRNA.	412						Golgi apparatus|extracellular space|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		CGAAAGCAACCACTTGCACGT	0.637000														22			4		0	0	0.00116845	0	0
ITGAX	3687	broad.mit.edu	37	16	31374393	31374393	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:31374393G>A	uc002ebt.3	+	12	1564	c.1497G>A	c.(1495-1497)agG>agA	p.R499R	ITGAX_uc002ebu.1_Silent_p.R499R|ITGAX_uc010vfk.1_Silent_p.R149R	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	499					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCTTGCCCAGGGGGGTGAGTG	0.657000														28			22		0	0	0.000878237	0	0
LILRA4	23547	broad.mit.edu	37	19	54849831	54849831	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:54849831C>T	uc002qfj.3	-	2	248	c.191G>A	c.(190-192)gGa>gAa	p.G64E	LILRA4_uc002qfi.3_5'UTR	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	64	Ig-like C2-type 1.					integral to membrane	receptor activity	p.G64E(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CATTGAGTTTCCCTCTTTATC	0.542000														81			27		0	0	0.00209593	0	0
KIF6	221458	broad.mit.edu	37	6	39513388	39513388	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:39513388T>C	uc003oot.2	-	10	1353	c.1258A>G	c.(1258-1260)Aaa>Gaa	p.K420E	KIF6_uc010jxa.1_Missense_Mutation_p.K211E|KIF6_uc011dua.1_Missense_Mutation_p.K420E|KIF6_uc010jxb.1_Missense_Mutation_p.K420E	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	420					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGATGAACTTTACGCATATCC	0.348000														30			29		0	0	0.00375469	0	0
TPP1	1200	broad.mit.edu	37	11	6636489	6636489	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:6636489G>A	uc001mel.1	-	10	1399	c.1338C>T	c.(1336-1338)ggC>ggT	p.G446G	TPP1_uc001mek.1_Silent_p.G203G	NM_000391	NP_000382	O14773	TPP1_HUMAN	Homo sapiens tripeptidyl peptidase I (TPP1), mRNA.	446					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		GGTAGGCACGGCCACTGGCAT	0.547000														67			19		0	0	0.00152264	0	0
TNFSF8	944	broad.mit.edu	37	9	117666403	117666403	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:117666403C>T	uc004bji.2	-	3	805	c.513G>A	c.(511-513)caG>caA	p.Q171Q	TNFSF8_uc022bmi.1_Intron	NM_001244	NP_001235	P32971	TNFL8_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 8 (TNFSF8), transcript variant 1, mRNA.	171					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						TCACCAGGGCCTGTTTTTTGA	0.423000														34			32		0	0	0.00209593	0	0
LILRB5	10990	broad.mit.edu	37	19	54759988	54759988	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:54759988C>T	uc010yer.1	-	3	657	c.546G>A	c.(544-546)tgG>tgA	p.W182*	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Nonsense_Mutation_p.W191*|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Nonsense_Mutation_p.W191*|LILRB5_uc002qfa.1_Intron|LILRB5_uc010yes.1_Intron			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	191	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATCTGAACCTCCACCTGCAGC	0.567000														51			14		0	0	0.00400662	0	0
PIWIL1	9271	broad.mit.edu	37	12	130827153	130827153	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:130827153G>A	uc001uik.3	+	1	288	c.17G>A	c.(16-18)cGa>cAa	p.R6Q	PIWIL1_uc001uij.2_Missense_Mutation_p.R6Q	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	6					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GGGAGAGCCCGAGCCAGAGCC	0.488000														15			22		0	0	0.00332997	0	0
FAF1	11124	broad.mit.edu	37	1	51048346	51048346	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:51048346A>T	uc001cse.1	-	11	1510	c.1057T>A	c.(1057-1059)Ttt>Att	p.F353I	FAF1_uc009vyw.1_Non-coding_Transcript|FAF1_uc010onc.1_Missense_Mutation_p.F111I	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	Homo sapiens Fas (TNFRSF6) associated factor 1 (FAF1), mRNA.	353					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	NF-kappaB binding|heat shock protein binding|protein kinase binding|protein kinase regulator activity	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		GAGCCAATAAAAAATACAGGA	0.343000														85			55		0	0	0.00361006	0	0
AKAP8	10270	broad.mit.edu	37	19	15483046	15483046	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:15483046C>A	uc002nav.3	-	5	1044	c.974G>T	c.(973-975)gGa>gTa	p.G325V	AKAP8_uc010dzy.3_5'UTR|AKAP8_uc010dzz.1_Non-coding_Transcript|AKAP8_uc010xog.2_Missense_Mutation_p.G139V	NM_005858	NP_005849	O43823	AKAP8_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8 (AKAP8), mRNA.	325					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						GGAGAAATCTCCTTCACTGTC	0.592000														57			13		9.31168e-06	2.10887e-05	0.00185496	1	0
FUT3	2525	broad.mit.edu	37	19	5844661	5844661	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:5844661G>A	uc002mdk.2	-	1	287	c.190C>T	c.(190-192)Ctg>Ttg	p.L64L	FUT3_uc002mdm.2_Silent_p.L64L|FUT3_uc002mdj.2_Silent_p.L64L|FUT3_uc002mdl.2_Silent_p.L64L|FUT3_uc021unn.1_Silent_p.L64L|BC033124_uc002mdn.3_5'Flank	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA.	64					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						AGCAGGATCAGGAGGGTGGGG	0.647000														31			20		0	0	0.00188189	0	0
TADA2A	6871	broad.mit.edu	37	17	35797851	35797851	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:35797851C>T	uc002hnv.3	+	4	574	c.205C>T	c.(205-207)Cct>Tct	p.P69S	TADA2A_uc002hnt.3_Missense_Mutation_p.P69S|TADA2A_uc002hnu.1_Missense_Mutation_p.P69S|TADA2A_uc002hnw.3_5'UTR	NM_001488	NP_001479	O75478	TAD2A_HUMAN	Homo sapiens transcriptional adaptor 2A (TADA2A), transcript variant 1, mRNA.	69					histone H3 acetylation|transcription from RNA polymerase II promoter	PCAF complex|chromosome	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						TTCAGATTTTCCTGTCCTTGA	0.463000														45			51		0	0	0.00361006	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762117	92762117	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:92762117G>A	uc003umh.1	-	4	4384	c.3168C>T	c.(3166-3168)tcC>tcT	p.S1056S	SAMD9L_uc003umj.1_Silent_p.S1056S|SAMD9L_uc003umi.1_Silent_p.S1056S|SAMD9L_uc010lfb.1_Silent_p.S1056S|SAMD9L_uc003umk.1_Silent_p.S1056S|SAMD9L_uc010lfc.1_Silent_p.S1056S|SAMD9L_uc010lfd.1_Silent_p.S1056S|SAMD9L_uc022ahh.1_Silent_p.S1056S	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1056										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CCATTAATGGGGAAAACAGAG	0.388000														37			14		0	0	0.000566183	0	0
MLL2	8085	broad.mit.edu	37	19	36217254	36217254	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:36217254G>A	uc021usv.1	+	14	4003	c.4003_splice	c.e14+1	p.G1335_splice	MLL2_uc021usu.1_Splice_Site_p.G149_splice	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	1506					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						ATATGAGAAAGGTGGGGACCG	0.582000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				29			14		0	0	0.00400662	0	0
CUZD1	50624	broad.mit.edu	37	10	124597015	124597015	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:124597015G>A	uc001lgs.3	-	5	1455	c.504C>T	c.(502-504)ccC>ccT	p.P168P	CUZD1_uc001lgp.3_5'UTR|CUZD1_uc009yad.3_5'UTR|CUZD1_uc009yaf.3_Intron|CUZD1_uc001lgr.3_5'UTR|CUZD1_uc010qty.2_5'UTR|CUZD1_uc009yae.3_5'UTR|CUZD1_uc010qtz.2_Silent_p.P168P	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	168	CUB 2.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TTGGGTAATTGGGGCTGGTGA	0.423000														31			9		0	0	0.000673444	0	0
GLI3	2737	broad.mit.edu	37	7	42005140	42005140	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:42005140G>A	uc011kbh.2	-	14	3622	c.3531C>T	c.(3529-3531)ctC>ctT	p.L1177L	GLI3_uc011kbg.2_Silent_p.L1118L	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	1177					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GCCCACACTTGAGCTTGGAGG	0.667000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					98			58		0	0	0.00361006	0	0
METTL9	51108	broad.mit.edu	37	16	21666636	21666636	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:21666636C>T	uc002dje.3	+	4	1039	c.840C>T	c.(838-840)ttC>ttT	p.F280F	LOC23117_uc021tel.1_Intron|METTL9_uc002djf.3_Silent_p.F279F|IGSF6_uc002djg.2_5'Flank|IGSF6_uc010vbi.2_5'Flank	NM_016025	NP_057109	Q9H1A3	METL9_HUMAN	Homo sapiens methyltransferase like 9 (METTL9), transcript variant 1, mRNA.	280										endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		CTGAAGTTTTCAGAAAAGCTG	0.408000														39			16		0	0	0.00400662	0	0
VWF	7450	broad.mit.edu	37	12	6127662	6127662	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:6127662C>T	uc001qnn.1	-	27	5172	c.4922G>A	c.(4921-4923)aGg>aAg	p.R1641K	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1641	VWFA 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCAGCCAATCCTCTCCAGCTC	0.612000														24			27		0	0	0.00178596	0	0
GPR112	139378	broad.mit.edu	37	X	135430934	135430934	+	Missense_Mutation	SNP	C	T	T	rs141778568	byFrequency	TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:135430934C>T	uc004ezu.1	+	5	5360	c.5069C>T	c.(5068-5070)tCc>tTc	p.S1690F	GPR112_uc010nsb.1_Missense_Mutation_p.S1485F|GPR112_uc010nsc.1_Missense_Mutation_p.S1457F	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1690					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S1690F(2)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GCTATTTCCTCCATTCCAAAG	0.448000														10			14		0	0	0.00244969	0	0
OR51E2	81285	broad.mit.edu	37	11	4703715	4703715	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:4703715G>A	uc001lzk.2	-	1	471	c.227C>T	c.(226-228)aCc>aTc	p.T76I	OR51E2_uc021qcr.1_Missense_Mutation_p.T76I	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S75S(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		CTTAGGCATGGTGGATGTGGA	0.502000														34			28		0	0	0.00209593	0	0
PDE7B	27115	broad.mit.edu	37	6	136512877	136512877	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:136512877C>T	uc003qgp.3	+	12	1555	c.1252C>T	c.(1252-1254)Ccc>Tcc	p.P418S	AJ606316_uc003qgq.1_Intron|PDE7B_uc003qgr.3_Missense_Mutation_p.P470S	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	Homo sapiens phosphodiesterase 7B (PDE7B), mRNA.	418					signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	GAGCCTGTTGCCCAGGCAGCA	0.642000														9			3		0	0	6.4e-05	0	0
CTNNA3	29119	broad.mit.edu	37	10	68381523	68381523	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:68381523G>A	uc009xpn.1	-	9	1424	c.1301C>T	c.(1300-1302)tCc>tTc	p.S434F	CTNNA3_uc001jmw.2_Missense_Mutation_p.S434F|CTNNA3_uc001jmx.4_Missense_Mutation_p.S434F	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	434					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TGTTGACATGGAACAAGCAAG	0.328000														21			6		0	0	0.000274275	0	0
C3orf20	84077	broad.mit.edu	37	3	14801436	14801436	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:14801436G>A	uc003byy.3	+	13	2735	c.2283G>A	c.(2281-2283)ctG>ctA	p.L761L	C3orf20_uc003byz.3_Silent_p.L639L|C3orf20_uc003bza.3_Silent_p.L639L|C3orf20_uc003bzb.1_Silent_p.L262L|C3orf20_uc011avj.2_Silent_p.L88L	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	761						cytoplasm|integral to membrane		p.L761L(2)|p.D762Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						AGTATGACCTGGACAGCCCCC	0.562000														62			13		0	0	0.00244969	0	0
KLK8	11202	broad.mit.edu	37	19	51503258	51503258	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:51503258G>A	uc002puq.1	-	3	808	c.622C>T	c.(622-624)Ccc>Tcc	p.P208S	KLK8_uc002pur.1_Missense_Mutation_p.P163S|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Missense_Mutation_p.P163S|KLK8_uc002puv.1_Intron	NM_144505	NP_653088	O60259	KLK8_HUMAN	Homo sapiens kallikrein-related peptidase 8 (KLK8), transcript variant 2, mRNA.	163	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		CTACCTCGGGGACTGGTGACA	0.612000														23			7		0	0	0.000442599	0	0
EGFLAM	133584	broad.mit.edu	37	5	38427205	38427205	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:38427205G>A	uc003jlc.2	+	13	2251	c.1905G>A	c.(1903-1905)atG>atA	p.M635I	EGFLAM_uc003jlb.2_Missense_Mutation_p.M635I|EGFLAM_uc003jle.2_Missense_Mutation_p.M401I|EGFLAM_uc003jlf.2_Missense_Mutation_p.M1I	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	635	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TTTCCTTCATGGAATTTGAGA	0.507000														90			22		0	0	0.00229938	0	0
DCTN1	1639	broad.mit.edu	37	2	74598765	74598765	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:74598765C>T	uc002skx.3	-	7	862	c.544G>A	c.(544-546)Gag>Aag	p.E182K	DCTN1_uc002skv.3_Missense_Mutation_p.E48K|DCTN1_uc002sku.3_Missense_Mutation_p.E48K|DCTN1_uc002skw.2_Missense_Mutation_p.E175K|DCTN1_uc010ffd.3_Missense_Mutation_p.E162K|DCTN1_uc002sky.3_Missense_Mutation_p.E145K	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	182	Ser-rich.				G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GTGCTGGGCTCACTGCTGCTC	0.672000														6			8		0	0	0.000274275	0	0
ZNF608	57507	broad.mit.edu	37	5	123980094	123980094	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:123980094C>G	uc003ktq.1	-	4	4149	c.3966G>C	c.(3964-3966)tgG>tgC	p.W1322C	ZNF608_uc003ktr.1_Non-coding_Transcript|ZNF608_uc003ktp.1_Missense_Mutation_p.W17C	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	1322						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GAGAGTCCTTCCAGTTCACAG	0.473000														117			23		0	0	0.00278032	0	0
TNR	7143	broad.mit.edu	37	1	175362950	175362950	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:175362950G>A	uc001gkp.1	-	3	1403	c.1322C>T	c.(1321-1323)tCc>tTc	p.S441F	TNR_uc009wwu.1_Missense_Mutation_p.S441F|TNR_uc010pmz.1_3'UTR	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	441	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCCATCGAAGGAAAATGAGAA	0.458000														181			51		0	0	0.00361006	0	0
LIPE	3991	broad.mit.edu	37	19	42931147	42931147	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:42931147G>A	uc002otr.3	-	0	432	c.155C>T	c.(154-156)gCt>gTt	p.A52V	AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|LIPE_uc002ots.1_5'Flank	NM_005357	NP_005348	Q05469	LIPS_HUMAN	Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.	52					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TTGGTTTGAAGCAGGCTTCTG	0.532000														89			27		0	0	0.000878237	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42162677	42162677	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:42162677G>A	uc002xkn.1	+	6	681	c.550G>A	c.(550-552)Gag>Aag	p.E184K	L3MBTL1_uc010zwh.2_Missense_Mutation_p.E493K|L3MBTL1_uc002xkm.3_Missense_Mutation_p.E425K|L3MBTL1_uc010ggl.3_Missense_Mutation_p.E425K|L3MBTL1_uc002xkl.3_Missense_Mutation_p.E425K|L3MBTL1_uc002xko.3_Missense_Mutation_p.E77K	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	Homo sapiens l(3)mbt-like 1 (Drosophila) (L3MBTL1), transcript variant I, mRNA.	425					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	SAM domain binding|identical protein binding|methylated histone residue binding|nucleosomal histone binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CTTCTGTTGGGAGAAATATCT	0.567000														76			35		0	0	0.00128727	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8222664	8222664	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:8222664A>G	uc002glc.3	+	13	2376	c.2221A>G	c.(2221-2223)Acc>Gcc	p.T741A	ARHGEF15_uc002gld.3_Missense_Mutation_p.T741A|ARHGEF15_uc010vuw.2_Missense_Mutation_p.T630A	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	741					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						AGCCTTCCCAACCCCAGGCCC	0.577000														32			57		0	0	0.00361006	0	0
FOXN1	8456	broad.mit.edu	37	17	26851738	26851738	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:26851738G>A	uc010crm.3	+	2	539	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	FOXN1_uc002hbj.3_Missense_Mutation_p.R114Q	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	114					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					AGCCCTGGGCGATTCCTCAAG	0.657000														5			8		0	0	0.000274275	0	0
FER1L6	654463	broad.mit.edu	37	8	124968246	124968246	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:124968246G>A	uc003yqw.3	+	1	214	c.8G>A	c.(7-9)gGg>gAg	p.G3E		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	3						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GGGATGTTTGGGCTGAAGGTG	0.443000														22			9		0	0	0.000442599	0	0
CDHR2	54825	broad.mit.edu	37	5	175995791	175995791	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:175995791G>A	uc021yie.1	+	3	511	c.237G>A	c.(235-237)gtG>gtA	p.V79V	CDHR2_uc003mem.2_Silent_p.V79V|CDHR2_uc003men.1_Silent_p.V79V	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	79	Cadherin 1.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTGGGGAAGTGAAGCTGGCCA	0.627000														40			25		0	0	0.001512	0	0
MYO3A	53904	broad.mit.edu	37	10	26434394	26434394	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:26434394G>A	uc001isn.2	+	21	2796	c.2436G>A	c.(2434-2436)ctG>ctA	p.L812L	MYO3A_uc009xko.1_Silent_p.L812L|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	812	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAGGTAACCTGAAATCACAAT	0.313000														22			11		0	0	0.000978159	0	0
MXRA5	25878	broad.mit.edu	37	X	3242170	3242170	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:3242170G>A	uc004crg.4	-	4	1713	c.1556C>T	c.(1555-1557)tCc>tTc	p.S519F		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	519	Ig-like C2-type 1.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTTCAGGATGGAGCCATCTGG	0.537000														15			14		0	0	0.00316338	0	0
BBS7	55212	broad.mit.edu	37	4	122774202	122774202	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:122774202C>T	uc003ied.3	-	7	942	c.758G>A	c.(757-759)gGg>gAg	p.G253E	BBS7_uc003iee.2_Missense_Mutation_p.G253E	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Homo sapiens Bardet-Biedl syndrome 7 (BBS7), transcript variant 1, mRNA.	253					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ATCTTTAACCCCATCACCCAC	0.343000									Bardet-Biedl syndrome					18			18		0	0	0.000566183	0	0
ACTL6B	51412	broad.mit.edu	37	7	100245114	100245114	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:100245114C>T	uc003uvy.3	-	7	819	c.712G>A	c.(712-714)Gag>Aag	p.E238K	ACTL6B_uc003uvz.3_Non-coding_Transcript	NM_016188	NP_057272	O94805	ACL6B_HUMAN	Homo sapiens actin-like 6B (ACTL6B), mRNA.	238					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	SWI/SNF complex|nBAF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGTAGCTTCTCCTTCTTCTTC	0.612000														63			32		0	0	0.00128727	0	0
SHOC2	8036	broad.mit.edu	37	10	112764468	112764468	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:112764468C>T	uc001kzl.4	+	4	1426	c.1077C>T	c.(1075-1077)tcC>tcT	p.S359S	SHOC2_uc009xxx.3_Silent_p.S359S|SHOC2_uc010qrg.2_5'UTR|SHOC2_uc001kzn.3_Silent_p.S313S	NM_007373	NP_031399	Q9UQ13	SHOC2_HUMAN	Homo sapiens soc-2 suppressor of clear homolog (C. elegans) (SHOC2), mRNA.	359					Ras protein signal transduction|fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		CCATCTATTCCCTCAACATGG	0.353000														43			8		0	0	0.000978159	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64601088	64601088	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:64601088T>C	uc003dmg.3	-	20	3130	c.3098A>G	c.(3097-3099)gAt>gGt	p.D1033G	ADAMTS9_uc011bfo.2_Missense_Mutation_p.D1005G|ADAMTS9_uc003dmh.1_Missense_Mutation_p.D862G|ADAMTS9_uc003dmk.1_Missense_Mutation_p.D1033G|ADAMTS9_uc011bfp.1_5'UTR	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1033	TSP type-1 4.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTTGCTGTCATCCAGTACATC	0.438000														361			160		0	0	0.00361006	0	0
LILRB3	11025	broad.mit.edu	37	19	54803096	54803096	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:54803096G>A	uc002qfd.3	-	3	673	c.581C>T	c.(580-582)tCg>tTg	p.S194L	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Intron	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	193	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCACCTGTACGACCACCTGCG	0.587000														57			21		0	0	0.00152264	0	0
OR2V2	285659	broad.mit.edu	37	5	180582567	180582567	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:180582567C>T	uc011dhj.2	+	0	625	c.625C>T	c.(625-627)Ctc>Ttc	p.L209F		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily V, member 2 (OR2V2), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L209L(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTCATGCTTCTCTTCCCATT	0.498000														145			23		0	0	0.00395357	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256408	15256408	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:15256408C>T	uc001iob.3	-	7	1186	c.1179G>A	c.(1177-1179)ctG>ctA	p.L393L		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	393						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CTCCACTCATCAGTTCCTTCG	0.602000														33			12		0	0	0.00185496	0	0
LRP12	29967	broad.mit.edu	37	8	105503244	105503244	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:105503244C>T	uc003yma.3	-	6	2364	c.2237G>A	c.(2236-2238)cGa>cAa	p.R746Q	LRP12_uc003ymb.3_Missense_Mutation_p.R727Q|LRP12_uc003ylz.3_Missense_Mutation_p.R152Q	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA.	746					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GGAACTTGATCGTCCTAATGT	0.458000														48			17		0	0	0.00188189	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155935516	155935516	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:155935516G>A	uc001fmu.2	-	8	766	c.511C>T	c.(511-513)Ccc>Tcc	p.P171S	ARHGEF2_uc001fmr.2_Missense_Mutation_p.P99S|ARHGEF2_uc001fms.2_Missense_Mutation_p.P126S|ARHGEF2_uc001fmt.2_Missense_Mutation_p.P126S|ARHGEF2_uc010pgt.1_Missense_Mutation_p.P99S|ARHGEF2_uc010pgu.1_Missense_Mutation_p.P171S	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.	126					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTGTCGGAGGGGTAGATGGCC	0.622000														33			23		0	0	0.00332997	0	0
CUX1	1523	broad.mit.edu	37	7	101840438	101840438	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:101840438C>T	uc003uys.4	+	14	1907	c.1780C>T	c.(1780-1782)Caa>Taa	p.Q594*	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Nonsense_Mutation_p.Q583*	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	583					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GGGACTGTCTCAAGGGTCCGT	0.507000														92			36		0	0	0.000953801	0	0
KLHDC10	23008	broad.mit.edu	37	7	129710498	129710498	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:129710498G>A	uc003vpj.2	+	0	150	c.15G>A	c.(13-15)caG>caA	p.Q5Q	KLHDC10_uc003vpk.2_Silent_p.Q5Q|KLHDC10_uc010lmb.2_Silent_p.Q5Q	NM_014997	NP_055812	Q6PID8	KLD10_HUMAN	Homo sapiens kelch domain containing 10 (KLHDC10), mRNA.	5										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						CGGCCGCCCAgggctgggaca	0.761000														9			4		0	0	0.00116845	0	0
KDM4D	55693	broad.mit.edu	37	11	94731314	94731314	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:94731314C>T	uc021qow.1	+	0	778	c.778C>T	c.(778-780)Ccc>Tcc	p.P260S	KDM4D_uc001pfe.3_Missense_Mutation_p.P260S	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	Homo sapiens lysine (K)-specific demethylase 4D (KDM4D), mRNA.	260	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.P260H(1)		endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AAATGGGATTCCCTTCAATCG	0.567000														64			25		0	0	0.000720815	0	0
DEFA5	1670	broad.mit.edu	37	8	6914111	6914111	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:6914111C>T	uc003wra.1	-	0	149	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K		NM_021010	NP_066290	Q01523	DEF5_HUMAN	Homo sapiens defensin, alpha 5, Paneth cell-specific (DEFA5), mRNA.	37					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		p.G36E(1)		NS(1)|lung(4)|skin(1)|stomach(1)	7				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TGGTTGTCTTCCCCAGACTGC	0.527000														56			18		0	0	0.00121646	0	0
OIT3	170392	broad.mit.edu	37	10	74690355	74690355	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:74690355T>A	uc001jte.1	+	7	1645	c.1427T>A	c.(1426-1428)tTc>tAc	p.F476Y	OIT3_uc009xqs.1_Non-coding_Transcript	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	Homo sapiens oncoprotein induced transcript 3 (OIT3), mRNA.	476	ZP.					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GCAAAGCACTTCCAGGTCCCT	0.418000														109			37		0	0	0.00128727	0	0
SLC17A6	57084	broad.mit.edu	37	11	22399224	22399224	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:22399224G>A	uc001mqk.3	+	11	2100	c.1687G>A	c.(1687-1689)Gaa>Aaa	p.E563K		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	563					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.E562*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						AAAGAAAGAGGAATTTGTACA	0.363000														17			6		0	0	0.00198382	0	0
C7orf33	202865	broad.mit.edu	37	7	148288132	148288132	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:148288132C>T	uc003wew.3	+	0	476	c.115C>T	c.(115-117)Cgc>Tgc	p.R39C		NM_145304	NP_660347	Q8WU49	CG033_HUMAN	Homo sapiens chromosome 7 open reading frame 33 (C7orf33), mRNA.	39								p.L38F(1)		central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GATTGACCTTCGCCTGAGTGG	0.557000														58			24		0	0	0.00278032	0	0
STAT4	6775	broad.mit.edu	37	2	191905794	191905794	+	Silent	SNP	C	T	T	rs66818798		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:191905794C>T	uc002usm.2	-	14	1647	c.1332G>A	c.(1330-1332)ttG>ttA	p.L444L	STAT4_uc002usn.2_Silent_p.L444L|STAT4_uc010zgk.1_Silent_p.L289L|STAT4_uc002uso.2_Silent_p.L444L	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	444					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.L444F(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			CACCTACCTCCAAATCTATGG	0.383000														72			37		0	0	0.00128727	0	0
ABHD6	57406	broad.mit.edu	37	3	58271172	58271172	+	Missense_Mutation	SNP	C	A	A	rs139332256		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:58271172C>A	uc003djs.4	+	7	1239	c.829C>A	c.(829-831)Caa>Aaa	p.Q277K	ABHD6_uc003djt.4_Missense_Mutation_p.Q277K	NM_020676	NP_065727	Q9BV23	ABHD6_HUMAN	Homo sapiens abhydrolase domain containing 6 (ABHD6), mRNA.	277						integral to membrane	acylglycerol lipase activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		CTGGGGGAAACAAGACCAGGT	0.488000														41			25		1.74807e-11	3.98032e-11	0.00209593	1	0
MYO7B	4648	broad.mit.edu	37	2	128324317	128324317	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:128324317G>A	uc002top.3	+	4	438	c.385G>A	c.(385-387)Gag>Aag	p.E129K		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	129	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity	p.G128G(1)|p.E129G(1)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCATATGGGCGAGCTGCCCCC	0.587000														13			14		0	0	0.00316338	0	0
SAG	6295	broad.mit.edu	37	2	234237135	234237135	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:234237135G>A	uc002vuh.2	+	7	912	c.524G>A	c.(523-525)cGa>cAa	p.R175Q	SAG_uc010zmq.1_Missense_Mutation_p.R41Q	NM_000541	NP_000532	P10523	ARRS_HUMAN	Homo sapiens S-antigen; retina and pineal gland (arrestin) (SAG), mRNA.	175					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		AGCTCCGTGCGATTACTGATC	0.592000														80			22		0	0	0.000878237	0	0
SLC1A7	6512	broad.mit.edu	37	1	53556515	53556515	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:53556515C>T	uc021onn.1	-	7	1340	c.1172G>A	c.(1171-1173)gGa>gAa	p.G391E	SLC1A7_uc021onm.1_Intron|SLC1A7_uc001cux.3_5'UTR|SLC1A7_uc001cuy.3_Intron|SLC1A7_uc021ono.1_Intron	NM_006671	NP_006662	O00341	EAA5_HUMAN	Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	374						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	CCAGCACCCTCCTCCAGGATG	0.662000														7			3		0	0	6.4e-05	0	0
DNER	92737	broad.mit.edu	37	2	230377581	230377581	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:230377581C>T	uc002vpv.3	-	5	1212	c.1065G>A	c.(1063-1065)agG>agA	p.R355R	DNER_uc010zly.1_Silent_p.R83R	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	355	EGF-like 4.				Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	p.Q354H(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GGCAAGGTTTCCTCTGGCAAG	0.438000														32			29		0	0	0.00209593	0	0
DACH1	1602	broad.mit.edu	37	13	72147000	72147000	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:72147000G>A	uc021rkj.1	-	3	1700	c.1277C>T	c.(1276-1278)cCa>cTa	p.P426L	DACH1_uc021rkk.1_Intron|DACH1_uc021rkl.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	476					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AACTCTGGATGGGGGACTCTG	0.423000														31			18		0	0	0.00188189	0	0
abParts	0	broad.mit.edu	37	14	106790928	106790928	+	RNA	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:106790928C>T	uc021ser.1	-	620		c.17464G>A								Parts of antibodies, mostly variable regions.																		CTGAGCGCCCCCTGCCGCTGA	0.577000														39			8		0	0	0.00307968	0	0
OR51M1	390059	broad.mit.edu	37	11	5410645	5410645	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:5410645C>T	uc010qzc.2	+	0	39	c.17C>T	c.(16-18)tCg>tTg	p.S6L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.	6						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCCAATATTCGCTCAGTCCT	0.403000														121			29		0	0	0.00327116	0	0
TOX2	84969	broad.mit.edu	37	20	42682973	42682973	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:42682973G>A	uc010ggo.3	+	4	726	c.686G>A	c.(685-687)gGa>gAa	p.G229E	TOX2_uc002xle.4_Missense_Mutation_p.G187E|TOX2_uc010ggp.3_Missense_Mutation_p.G187E|TOX2_uc002xlf.4_Missense_Mutation_p.G238E|TOX2_uc010zwk.2_Missense_Mutation_p.G107E	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GCCGACCCAGGAAAAAAGGCC	0.537000														14			9		0	0	0.000978159	0	0
XIST	7503	broad.mit.edu	37	X	73066284	73066284	+	RNA	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:73066284A>G	uc004ebm.1	-	0		c.6305T>C								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		AGACGATTATAATCACACACA	0.488000														8			17		0	0	0.00074312	0	0
TRPM1	4308	broad.mit.edu	37	15	31294290	31294290	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:31294290G>A	uc021sia.1	-	26	4978	c.4664C>T	c.(4663-4665)cCt>cTt	p.P1555L	TRPM1_uc010azy.3_Missense_Mutation_p.P1423L|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.P1538L|TRPM1_uc001zfm.3_Missense_Mutation_p.P1516L	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	1516					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AGGGATTCGAGGAATTGCTTC	0.453000														185			66		0	0	0.00361006	0	0
MYF6	4618	broad.mit.edu	37	12	81101868	81101868	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:81101868C>T	uc001szf.2	+	0	461	c.370C>T	c.(370-372)Ccc>Tcc	p.P124S		NM_002469	NP_002460	P23409	MYF6_HUMAN	Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.	124	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TGTGGCCAACCCCAACCAGAG	0.607000														31			17		0	0	0.00121646	0	0
OR8G1	26494	broad.mit.edu	37	11	124120608	124120608	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:124120608C>T	uc001pzx.3	+	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001002905	NP_001002905	Q15617	OR8G1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 1 (OR8G1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		TGTACTATTTCCTCAGCAGTC	0.483000														11			11		0	0	0.000673444	0	0
LRRFIP1	9208	broad.mit.edu	37	2	238671681	238671681	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:238671681C>T	uc002vxe.3	+	10	1617	c.1325C>T	c.(1324-1326)cCt>cTt	p.P442L	LRRFIP1_uc002vxc.3_Intron|LRRFIP1_uc010znm.2_Intron|LRRFIP1_uc002vxd.3_Missense_Mutation_p.P418L|LRRFIP1_uc002vxf.3_Missense_Mutation_p.P386L	NM_001137552	NP_001131024	Q32MZ4	LRRF1_HUMAN	Homo sapiens leucine rich repeat (in FLII) interacting protein 1 (LRRFIP1), transcript variant 3, mRNA.	442					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		GCCTCGTGTCCTTTAGGGCAT	0.483000														72			17		0	0	0.00152264	0	0
MAPK13	5603	broad.mit.edu	37	6	36106731	36106731	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:36106731C>T	uc003ols.3	+	10	1015	c.917C>T	c.(916-918)cCc>cTc	p.P306L	MAPK13_uc003olt.3_Non-coding_Transcript	NM_002754	NP_002745	O15264	MK13_HUMAN	Homo sapiens mitogen-activated protein kinase 13 (MAPK13), mRNA.	306	Protein kinase.				Ras protein signal transduction|cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						CTCACCCATCCCTTCTTTGAA	0.597000														31			18		0	0	0.000958276	0	0
NYAP2	57624	broad.mit.edu	37	2	226446890	226446890	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:226446890C>T	uc002voe.2	+	3	932	c.757C>T	c.(757-759)Ctc>Ttc	p.L253F	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.L23F	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	253																	GGGGAACATTCTCAGAGACTT	0.592000														99			24		0	0	0.00332997	0	0
SDK2	54549	broad.mit.edu	37	17	71354253	71354253	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:71354253G>A	uc010dfm.3	-	39	5558	c.5558C>T	c.(5557-5559)cCc>cTc	p.P1853L	SDK2_uc002jjt.4_Missense_Mutation_p.P993L|SDK2_uc010dfn.2_Missense_Mutation_p.P1532L	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1853	Fibronectin type-III 13.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCGGGTGATGGGCCCTTTGCC	0.657000														116			69		0	0	0.00361006	0	0
DNAH5	1767	broad.mit.edu	37	5	13820480	13820480	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:13820480G>A	uc003jfd.2	-	40	6858	c.6816C>T	c.(6814-6816)atC>atT	p.I2272I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2272	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCAAGGTGTGGATGCAGGTGG	0.552000									Kartagener syndrome					22			15		0	0	0.00074312	0	0
MED15	51586	broad.mit.edu	37	22	20937674	20937674	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:20937674C>T	uc002zsp.3	+	12	1810	c.1730C>T	c.(1729-1731)tCg>tTg	p.S577L	MED15_uc002zsq.3_Missense_Mutation_p.S537L|MED15_uc010gso.3_Missense_Mutation_p.S520L|MED15_uc002zsr.3_Missense_Mutation_p.S511L|MED15_uc011ahs.2_Missense_Mutation_p.S511L|MED15_uc002zss.3_Missense_Mutation_p.S456L|MED15_uc011ahu.2_Missense_Mutation_p.S287L|MED15_uc002zst.3_Missense_Mutation_p.S193L|MED15_uc002zsu.3_Missense_Mutation_p.S182L	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.	577					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			ACAGACCCCTCGAAGCGGTGA	0.537000														90			25		0	0	0.000720815	0	0
FLG	2312	broad.mit.edu	37	1	152286781	152286781	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:152286781C>T	uc001ezu.1	-	2	617	c.581G>A	c.(580-582)gGa>gAa	p.G194E	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	194					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G194A(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTATTGTCTCCTAATCTAGT	0.318000									Ichthyosis					77			36		0	0	0.00375469	0	0
RREB1	6239	broad.mit.edu	37	6	7211126	7211126	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:7211126G>A	uc003mxb.3	+	6	1007	c.515G>A	c.(514-516)aGg>aAg	p.R172K	RREB1_uc021yky.1_Missense_Mutation_p.R172K|RREB1_uc010jnw.3_Missense_Mutation_p.R172K|RREB1_uc003mxc.3_Missense_Mutation_p.R172K|RREB1_uc010jnx.3_Missense_Mutation_p.R172K|RREB1_uc003mxd.3_Missense_Mutation_p.R172K|RREB1_uc021ykz.1_Missense_Mutation_p.R172K|RREB1_uc021yla.1_Missense_Mutation_p.R172K	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	172					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TCCTCCAAGAGGAAACTGAGT	0.522000														90			19		0	0	0.00152264	0	0
XIRP2	129446	broad.mit.edu	37	2	168099701	168099701	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:168099701C>T	uc002udx.3	+	8	1888	c.1799C>T	c.(1798-1800)tCc>tTc	p.S600F	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.S425F|XIRP2_uc010fpq.3_Missense_Mutation_p.S378F|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	425					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGTGATATTTCCAGGGGCATT	0.433000														26			7		0	0	0.00307968	0	0
SCRN2	90507	broad.mit.edu	37	17	45915240	45915240	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:45915240G>A	uc002imd.3	-	7	1374	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F	SCRN2_uc002imf.3_3'UTR	NM_138355	NP_612364	Q96FV2	SCRN2_HUMAN	Homo sapiens secernin 2 (SCRN2), transcript variant 1, mRNA.	416					proteolysis		dipeptidase activity	p.A415T(1)		cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CCCTCTTCACGAAGGCCTGGA	0.662000														9			16		0	0	0.000566183	0	0
ANK1	286	broad.mit.edu	37	8	41577278	41577278	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:41577278C>T	uc003xok.3	-	9	1092	c.1008G>A	c.(1006-1008)ctG>ctA	p.L336L	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Silent_p.L336L|ANK1_uc003xoj.3_Silent_p.L336L|ANK1_uc003xol.3_Silent_p.L336L|ANK1_uc003xom.3_Silent_p.L369L	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	336	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCAGGTGGTCCAGGGTGATGT	0.602000														81			37		0	0	0.000953801	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110498933	110498933	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:110498933G>A	uc003yne.3	+	58	9867	c.9763G>A	c.(9763-9765)Ggg>Agg	p.G3255R		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3255					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGCTGATGTTGGGATACTGAG	0.453000										HNSCC(38;0.096)				14			7		0	0	0.00198382	0	0
CACNA1S	779	broad.mit.edu	37	1	201035026	201035026	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:201035026G>A	uc001gvv.3	-	21	3020	c.2793C>T	c.(2791-2793)atC>atT	p.I931I		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	931					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGACCAGCACGATGTTCCCGA	0.632000														26			18		0	0	0.00121646	0	0
CARD11	84433	broad.mit.edu	37	7	2959206	2959206	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:2959206G>A	uc003smv.3	-	17	2644	c.2310C>T	c.(2308-2310)atC>atT	p.I770I		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	770					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CCCCCGATGTGATCAGGCCGT	0.587000			Mis		DLBCL									15			4		0	0	0.000602214	0	0
POTEE	445582	broad.mit.edu	37	2	131976027	131976027	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:131976027T>G	uc002tsn.2	+	0	104	c.52T>G	c.(52-54)Ttt>Gtt	p.F18V	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	18							ATP binding	p.F18fs*107(1)									GAAGAAGCCATTTGGTCTCAG	0.557000														61			50		0	0	0.00361006	0	0
KDR	3791	broad.mit.edu	37	4	55955863	55955863	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:55955863G>A	uc003has.3	-	23	3601	c.3299C>T	c.(3298-3300)tCc>tTc	p.S1100F	KDR_uc003hat.1_Missense_Mutation_p.S1100F	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1100	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CTTACCTAAGGAAAATATTTC	0.413000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				93			40		0	0	0.00285205	0	0
FAM13C	220965	broad.mit.edu	37	10	61028373	61028373	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:61028373C>T	uc010qif.1	-	7	1014	c.948G>A	c.(946-948)caG>caA	p.Q316Q	FAM13C_uc010qid.2_Silent_p.Q211Q|FAM13C_uc001jkn.3_Silent_p.Q294Q|FAM13C_uc001jko.3_Silent_p.Q294Q|FAM13C_uc010qie.2_Silent_p.Q211Q|FAM13C_uc001jkp.3_Silent_p.Q211Q	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	294										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCTTGAGGCTCTGGATGTGCT	0.498000														13			6		0	0	0.00198382	0	0
PCDH15	65217	broad.mit.edu	37	10	55663086	55663086	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:55663086G>A	uc010qhy.1	-	26	3828	c.3433C>T	c.(3433-3435)Cat>Tat	p.H1145Y	PCDH15_uc010qhq.2_Missense_Mutation_p.H1145Y|PCDH15_uc010qhr.2_Missense_Mutation_p.H1140Y|PCDH15_uc021pqv.1_Missense_Mutation_p.H1140Y|PCDH15_uc021pqw.1_Missense_Mutation_p.H1152Y|PCDH15_uc010qht.2_Missense_Mutation_p.H1147Y|PCDH15_uc021pqx.1_Missense_Mutation_p.H1140Y|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.H1140Y|PCDH15_uc021pqz.1_Missense_Mutation_p.H1118Y|PCDH15_uc010qhv.1_Missense_Mutation_p.H1140Y|PCDH15_uc010qhw.1_Missense_Mutation_p.H1103Y|PCDH15_uc010qhx.1_Missense_Mutation_p.H1069Y|PCDH15_uc010qhz.1_Missense_Mutation_p.H1140Y|PCDH15_uc010qia.1_Missense_Mutation_p.H1118Y|PCDH15_uc001jju.1_Missense_Mutation_p.H1140Y|PCDH15_uc010qib.1_Missense_Mutation_p.H1118Y	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1140	Cadherin 11.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACTGGGGGATGATTATTTTCA	0.368000										HNSCC(58;0.16)				27			5		0	0	0.00116845	0	0
HRH4	59340	broad.mit.edu	37	18	22048792	22048792	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr18:22048792C>T	uc002kvi.3	+	1	334	c.234C>T	c.(232-234)ttC>ttT	p.F78F	HRH4_uc010xbd.2_Intron|HRH4_uc010dlx.3_Intron	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN	Homo sapiens histamine receptor H4 (HRH4), transcript variant 1, mRNA.	78						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	ACACGCTGTTCGAATGGGATT	0.398000														39			4		0	0	0.000602214	0	0
CCDC85A	114800	broad.mit.edu	37	2	56420443	56420444	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:56420443_56420444CC>TT	uc002rzn.3	+	1	1610_1611	c.1108_1109CC>TT	c.(1108-1110)cct>TTt	p.P370F	CCDC85A_uc021vhw.1_Intron	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	370	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGGAGGGAGCCCTGATCACAAA	0.639000														8			6		0	0	6.4e-05	0	0
ARMCX5	64860	broad.mit.edu	37	X	101858321	101858321	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:101858321G>A	uc022cbb.1	+	0	1252	c.1252G>A	c.(1252-1254)Ggg>Agg	p.G418R	ARMCX5_uc004ejg.3_Missense_Mutation_p.G418R|ARMCX5_uc022caw.1_Missense_Mutation_p.G418R|ARMCX5_uc022cax.1_Missense_Mutation_p.G418R|ARMCX5-GPRASP2_uc022cay.1_Intron|ARMCX5_uc022caz.1_Missense_Mutation_p.G418R|ARMCX5_uc022cba.1_Missense_Mutation_p.G418R|ARMCX5_uc004ejh.3_Missense_Mutation_p.G418R	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN	Homo sapiens armadillo repeat containing, X-linked 5 (ARMCX5), transcript variant 2, mRNA.	418							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						GAAATTACTAGGGCACTTGAG	0.388000														11			18		0	0	0.000958276	0	0
C17orf101	79701	broad.mit.edu	37	17	80369398	80369398	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:80369398G>A	uc002ket.2	-	2	465	c.313C>T	c.(313-315)Ccc>Tcc	p.P105S	C17orf101_uc010dip.2_Non-coding_Transcript|C17orf101_uc002keu.2_Missense_Mutation_p.P105S	NM_175902	NP_787098	Q6PK18	CQ101_HUMAN	Homo sapiens chromosome 17 open reading frame 101 (C17orf101), transcript variant 2, mRNA.	105						integral to membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.P105S(3)		breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14						CACTTTCGGGGAGTGCAGCCT	0.622000														32			15		0	0	0.00121646	0	0
TRANK1	9881	broad.mit.edu	37	3	36872497	36872497	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:36872497G>A	uc003cgj.3	-	20	8693	c.8445C>T	c.(8443-8445)atC>atT	p.I2815I		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2815					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CACTTTGCTCGATGTCCTGCA	0.542000														163			72		0	0	0.00361006	0	0
GPHB5	122876	broad.mit.edu	37	14	63784480	63784480	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:63784480C>T	uc021rud.1	-	1	141	c.84G>A	c.(82-84)ggG>ggA	p.G28G		NM_145171	NP_660154	Q86YW7	GPHB5_HUMAN	Homo sapiens glycoprotein hormone beta 5 (GPHB5), mRNA.	28						extracellular region	hormone activity			breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		TGCGCAGGTTCCCACTGGAGG	0.622000														41			13		0	0	0.00185496	0	0
BCL9	607	broad.mit.edu	37	1	147092780	147092780	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:147092780C>T	uc001epq.3	+	7	3559	c.2819C>T	c.(2818-2820)cCc>cTc	p.P940L	BCL9_uc010ozr.1_Missense_Mutation_p.P866L	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	940	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CCAAAACCTCCCCTTCAGAGT	0.567000			T	"""IGH@, IGL@"""	B-ALL									39			28		0	0	0.00127121	0	0
ARMC6	93436	broad.mit.edu	37	19	19165050	19165050	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:19165050G>A	uc002nld.3	+	5	1375	c.943G>A	c.(943-945)Gac>Aac	p.D315N	ARMC6_uc002nlc.3_Missense_Mutation_p.D290N|ARMC6_uc010xql.2_Missense_Mutation_p.D222N|ARMC6_uc010xqm.2_Missense_Mutation_p.D315N	NM_001199196	NP_001186125	Q6NXE6	ARMC6_HUMAN	Homo sapiens armadillo repeat containing 6 (ARMC6), transcript variant 1, mRNA.	315							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			GGAGGTCGTCGACCTCGGGGG	0.627000											OREG0025376	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		48			10		0	0	0.000442599	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46942885	46942885	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:46942885G>A	uc010acl.3	-	3	1206	c.601C>T	c.(601-603)Cct>Tct	p.P201S	KIAA0226L_uc001vbf.4_Missense_Mutation_p.P134S|KIAA0226L_uc010tfz.2_Missense_Mutation_p.P44S|KIAA0226L_uc010acn.3_5'UTR|KIAA0226L_uc010acm.3_Missense_Mutation_p.P66S|KIAA0226L_uc001vbe.4_Missense_Mutation_p.P201S|KIAA0226L_uc001vbh.4_Missense_Mutation_p.P201S|KIAA0226L_uc001vbi.4_Missense_Mutation_p.P44S|KIAA0226L_uc010aco.1_Missense_Mutation_p.P201S	NM_025113	NP_079389	Q9H714	CM018_HUMAN	Homo sapiens KIAA0226-like (KIAA0226L), mRNA.	201										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						ACATCAACAGGCAGCACAAAT	0.353000														138			24		0	0	0.00395357	0	0
PAPPA	5069	broad.mit.edu	37	9	118949766	118949766	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:118949766G>A	uc004bjn.3	+	1	1130	c.749G>A	c.(748-750)cGg>cAg	p.R250Q	PAPPA_uc011lxp.1_Missense_Mutation_p.R43Q|PAPPA_uc011lxq.2_Missense_Mutation_p.R43Q	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	250					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CACAACTACCGGGGCTACATC	0.572000														35			38		0	0	0.00148497	0	0
PARD3B	117583	broad.mit.edu	37	2	205986523	205986523	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:205986523C>T	uc002var.2	+	7	1222	c.1015C>T	c.(1015-1017)Cct>Tct	p.P339S	PARD3B_uc010fub.2_Missense_Mutation_p.P339S|PARD3B_uc002vao.2_Missense_Mutation_p.P339S|PARD3B_uc002vap.2_Missense_Mutation_p.P339S|PARD3B_uc002vaq.2_Missense_Mutation_p.P339S	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	339					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AACCGATAGTCCTGAAACAGA	0.488000														25			22		0	0	0.00332997	0	0
OR51G2	81282	broad.mit.edu	37	11	4936874	4936874	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:4936874C>T	uc001lzr.1	-	0	20	c.20G>A	c.(19-21)gGa>gAa	p.G7E		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTGCTGTTTCCCAGGGATCC	0.547000														12			8		0	0	0.000442599	0	0
LRRC17	10234	broad.mit.edu	37	7	102584731	102584731	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:102584731G>C	uc003vau.3	+	3	1392	c.1003G>C	c.(1003-1005)Gta>Cta	p.V335L	FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.3_3'UTR	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN	Homo sapiens leucine rich repeat containing 17 (LRRC17), transcript variant 1, mRNA.	335					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						TGACTATGGCGTATTAGAAGA	0.368000														101			51		0	0	0.00361006	0	0
ADAM28	10863	broad.mit.edu	37	8	24181423	24181424	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:24181423_24181424CC>TT	uc003xdy.3	+	8	880_881	c.797_798CC>TT	c.(796-798)acc>aTT	p.T266I	ADAM28_uc003xdx.3_Missense_Mutation_p.T266I|ADAM28_uc011kzz.2_Missense_Mutation_p.T33I|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_5'Flank	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	266	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATAAAGATAACCCCAAATGCAA	0.381000														6			4		0	0	6.4e-05	0	0
ADAM18	8749	broad.mit.edu	37	8	39495126	39495126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:39495126C>T	uc003xni.3	+	8	786	c.731C>T	c.(730-732)tCc>tTc	p.S244F	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.S220F	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	244	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			AACCAGATTTCCACCAGTGGG	0.363000														18			4		0	0	0.00116845	0	0
CABIN1	23523	broad.mit.edu	37	22	24563146	24563146	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:24563146C>T	uc002zzi.1	+	31	5674	c.5547C>T	c.(5545-5547)ctC>ctT	p.L1849L	CABIN1_uc021wnc.1_Silent_p.L1799L|CABIN1_uc002zzj.1_Silent_p.L1770L|CABIN1_uc002zzl.2_Silent_p.L1849L|CABIN1_uc002zzm.1_Silent_p.L274L	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	1849					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGAGGAAGCTCCTGGAGGACA	0.692000														20			12		0	0	0.00185496	0	0
ZEB1	6935	broad.mit.edu	37	10	31816025	31816025	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:31816025G>A	uc001ivs.4	+	8	3271	c.3208G>A	c.(3208-3210)Gaa>Aaa	p.E1070K	ZEB1_uc001ivr.4_Missense_Mutation_p.E852K|ZEB1_uc010qef.2_Missense_Mutation_p.E852K|ZEB1_uc001ivu.4_Missense_Mutation_p.E1071K|ZEB1_uc010qeh.2_Missense_Mutation_p.E1003K|ZEB1_uc001ivv.4_Missense_Mutation_p.E1050K|ZEB1_uc001ivt.4_Missense_Mutation_p.E852K|ZEB1_uc009xlo.2_Missense_Mutation_p.E1053K|ZEB1_uc009xlp.3_Missense_Mutation_p.E1054K	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	1070	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ggaggaggaggaagaagtgga	0.448000														3			3		0	0	6.4e-05	0	0
GRID1	2894	broad.mit.edu	37	10	87487690	87487690	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:87487690G>A	uc001kdl.1	-	9	1556	c.1455C>T	c.(1453-1455)taC>taT	p.Y485Y	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Silent_p.Y56Y	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	485						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CAGGGGCTTGGTAAATCTCAT	0.537000										Multiple Myeloma(13;0.14)				58			15		0	0	0.000566183	0	0
NPAS4	266743	broad.mit.edu	37	11	66192058	66192058	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:66192058G>A	uc001ohx.1	+	6	1873	c.1697G>A	c.(1696-1698)gGa>gAa	p.G566E	NPAS4_uc010rpc.1_Missense_Mutation_p.G356E	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	566					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GCCCAGGAGGGATGCAGTTTT	0.597000														71			52		0	0	0.00361006	0	0
PION	54103	broad.mit.edu	37	7	77010657	77010657	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:77010657G>A	uc003ugf.3	-	7	620	c.541C>T	c.(541-543)Cgt>Tgt	p.R181C	PION_uc003ugg.1_5'UTR	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	Homo sapiens pigeon homolog (Drosophila) (PION), mRNA.	181					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACATGGATACGAAATTGTTCA	0.294000														37			13		0	0	0.000566183	0	0
MDN1	23195	broad.mit.edu	37	6	90406124	90406124	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:90406124G>A	uc003pnn.1	-	59	9454	c.9338C>T	c.(9337-9339)tCg>tTg	p.S3113L		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	3113					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.S3113L(2)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCAAAGCATCGAACTGATGTC	0.512000														41			7		0	0	0.000274275	0	0
RP1	6101	broad.mit.edu	37	8	55542164	55542164	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:55542164G>A	uc003xsd.1	+	3	5870	c.5722G>A	c.(5722-5724)Gat>Aat	p.D1908N	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1908					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGACTCTTTGGATAAACTGTA	0.403000														50			30		0	0	0.00178596	0	0
HNF4G	3174	broad.mit.edu	37	8	76465357	76465357	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:76465357G>A	uc003yaq.3	+	5	699	c.429G>A	c.(427-429)atG>atA	p.M143I	HNF4G_uc003yar.3_Missense_Mutation_p.M180I	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	143					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GTGAATCTATGAAACAGCAGC	0.368000														21			5		0	0	0.000602214	0	0
MUC16	94025	broad.mit.edu	37	19	9067634	9067634	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:9067634C>T	uc002mkp.3	-	2	20016	c.19812G>A	c.(19810-19812)aaG>aaA	p.K6604K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6606	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AATAAGATTCCTTTTCAGAAG	0.423000														106			36		0	0	0.00222228	0	0
CAD	790	broad.mit.edu	37	2	27457094	27457094	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:27457094G>A	uc002rji.3	+	22	3780	c.3618_splice	c.e22+1	p.K1206_splice	CAD_uc010eyw.3_Splice_Site_p.K1143_splice	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	1206	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TCATTGCCAAGGTAATAAGGC	0.522000														48			10		0	0	0.000978159	0	0
SLC2A5	6518	broad.mit.edu	37	1	9117614	9117614	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:9117614C>T	uc001apo.3	-	2	478	c.186G>A	c.(184-186)atG>atA	p.M62I	SLC2A5_uc010nzz.2_Intron|SLC2A5_uc010oaa.2_Missense_Mutation_p.M18I|SLC2A5_uc010oac.2_Missense_Mutation_p.M62I|SLC2A5_uc001app.4_Missense_Mutation_p.M62I|SLC2A5_uc021ofv.1_Non-coding_Transcript	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	62					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GGAAGTCTTCCATGAATTCAC	0.443000														14			16		0	0	0.00074312	0	0
DNAH2	146754	broad.mit.edu	37	17	7695641	7695641	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:7695641G>A	uc002giu.1	+	44	7139	c.7125G>A	c.(7123-7125)aaG>aaA	p.K2375K		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2375					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGCTCCCTAAGAGTTGGCGCT	0.542000														27			36		0	0	0.00222228	0	0
OR7E24	26648	broad.mit.edu	37	19	9362401	9362401	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:9362401C>T	uc002mlb.1	+	0	682	c.682C>T	c.(682-684)Cct>Tct	p.P228S		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TGGCTGTCTCCCTATCTCAGG	0.438000														29			6		0	0	0.00198382	0	0
CLIC2	1193	broad.mit.edu	37	X	154508605	154508605	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:154508605G>A	uc004fnf.3	-	4	665	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L	CLIC2_uc010nvj.1_Silent_p.L157L	NM_001289	NP_001280	O15247	CLIC2_HUMAN	Homo sapiens chloride intracellular channel 2 (CLIC2), mRNA.	139	C-terminal.|GST C-terminal.				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCTTTGAGCAGAGATTTTTCA	0.373000														17			26		0	0	0.00178596	0	0
PDE3A	5139	broad.mit.edu	37	12	20807040	20807040	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:20807040G>T	uc001reh.2	+	14	3125	c.3085G>T	c.(3085-3087)Gac>Tac	p.D1029Y	PDE3A_uc021qwa.1_Missense_Mutation_p.D707Y	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	1029	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	ATGGGTGGAAGACAGCGATGA	0.478000														43			27		1.13719e-10	2.58703e-10	0.001512	1	0
GRIA1	2890	broad.mit.edu	37	5	153149814	153149814	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:153149814G>A	uc011dcy.2	+	12	2166	c.2139G>A	c.(2137-2139)ggG>ggA	p.G713G	GRIA1_uc003lva.4_Silent_p.G703G|GRIA1_uc003luy.4_Silent_p.G703G|GRIA1_uc003luz.4_Silent_p.G608G|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.G623G|GRIA1_uc011dcx.2_Silent_p.G634G|GRIA1_uc011dcz.2_Silent_p.G713G	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	703					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CAGAGGAGGGGATGATTCGAG	0.483000														26			7		0	0	0.00198382	0	0
RTN3	10313	broad.mit.edu	37	11	63517625	63517625	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:63517625C>T	uc001nxq.3	+	3	2880	c.2693C>T	c.(2692-2694)tCc>tTc	p.S898F	RTN3_uc001nxp.3_Missense_Mutation_p.S102F|RTN3_uc009yov.3_Missense_Mutation_p.S786F|RTN3_uc010rmt.2_Non-coding_Transcript|RTN3_uc010rmu.2_Missense_Mutation_p.S102F|RTN3_uc001nxm.3_Missense_Mutation_p.S121F|RTN3_uc001nxn.3_Missense_Mutation_p.S879F|RTN3_uc001nxo.3_Missense_Mutation_p.S102F	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	898	Reticulon.				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						ATCTACAAGTCCGTCATCCAA	0.448000														25			7		0	0	0.000274275	0	0
CLASP1	23332	broad.mit.edu	37	2	122285422	122285422	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:122285422G>A	uc002tnc.3	-	4	813	c.423C>T	c.(421-423)ttC>ttT	p.F141F	CLASP1_uc010yyy.2_Non-coding_Transcript|CLASP1_uc010yyz.2_Silent_p.F141F|CLASP1_uc010yza.2_Silent_p.F141F|CLASP1_uc021vnl.1_Silent_p.F141F|CLASP1_uc010yzc.2_Intron|CLASP1_uc002tng.1_Silent_p.F141F	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA.	141					G2/M transition of mitotic cell cycle|axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	Golgi apparatus|centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CTCGAGTACGGAAATTCTTGT	0.438000														46			21		0	0	0.00395357	0	0
CS	1431	broad.mit.edu	37	12	56679769	56679769	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:56679769C>T	uc001sks.1	-	2	322	c.132G>A	c.(130-132)gaG>gaA	p.E44E	CS_uc010sql.1_Silent_p.E31E|CS_uc001skr.1_5'UTR|CS_uc001skt.1_Intron|CS_uc010sqm.1_5'UTR	NM_004077	NP_004068	O75390	CISY_HUMAN	Homo sapiens citrate synthase (CS), nuclear gene encoding mitochondrial protein, mRNA.	44					cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		TTCTGGCCTGCTCCTTAGGTA	0.428000														199			47		0	0	0.00361006	0	0
PPOX	5498	broad.mit.edu	37	1	161140245	161140245	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:161140245G>A	uc001fyj.2	+	9	1324	c.1034G>A	c.(1033-1035)gGa>gAa	p.G345E	PPOX_uc001fyg.2_Missense_Mutation_p.G345E|PPOX_uc010pkg.1_Missense_Mutation_p.G183E|PPOX_uc001fyi.2_Missense_Mutation_p.G183E|PPOX_uc010pkh.1_Missense_Mutation_p.G90E	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	Homo sapiens protoporphyrinogen oxidase (PPOX), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	345					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity	p.G345R(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGAGTCCTGGGAATCGTGTAT	0.537000														121			24		0	0	0.00178596	0	0
OR5P2	120065	broad.mit.edu	37	11	7818001	7818001	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:7818001G>A	uc001mfp.1	-	0	489	c.489C>T	c.(487-489)ctC>ctT	p.L163L		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTCCACAGAAGAGTAAAAAAT	0.393000														32			16		0	0	0.000566183	0	0
CLCN7	1186	broad.mit.edu	37	16	1500599	1500599	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:1500599C>T	uc002clv.2	-	16	1626	c.1516G>A	c.(1516-1518)Ggg>Agg	p.G506R	CLCN7_uc002clu.2_5'Flank|CLCN7_uc002clw.2_Missense_Mutation_p.G482R	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	506						integral to membrane|lysosomal membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				ACCGTGAGCCCGTAGGTCCAG	0.667000														18			10		0	0	0.000673444	0	0
TTN	7273	broad.mit.edu	37	2	179480180	179480180	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:179480180C>T	uc021vsy.1	-	207	41013	c.40788G>A	c.(40786-40788)tgG>tgA	p.W13596*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.W7291*|TTN_uc021vta.1_Nonsense_Mutation_p.W7224*|TTN_uc021vtb.1_Nonsense_Mutation_p.W7099*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14523	Ig-like 92.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCGATCTCTCCATTTAACAT	0.443000														44			7		0	0	0.00307968	0	0
LPL	4023	broad.mit.edu	37	8	19805791	19805791	+	Silent	SNP	C	T	T	rs114726797	by1000genomes	TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:19805791C>T	uc003wzk.4	+	1	559	c.189C>T	c.(187-189)tcC>tcT	p.S63S		NM_000237	NP_000228	P06858	LIPL_HUMAN	Homo sapiens lipoprotein lipase (LPL), mRNA.	63					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	TAGCAGAGTCCGTGGCTACCT	0.502000														39			14		0	0	0.00244969	0	0
DCAF13	25879	broad.mit.edu	37	8	104427482	104427482	+	Silent	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:104427482A>G	uc003yln.3	+	0	541	c.264A>G	c.(262-264)gaA>gaG	p.E88E	SLC25A32_uc003yll.3_5'Flank|SLC25A32_uc011lhr.2_5'Flank|DCAF13_uc003ylm.1_5'UTR	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA.	75					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CAGCTAAAGAACCGCCCCTTG	0.652000														83			24		0	0	0.00332997	0	0
UBAP2L	9898	broad.mit.edu	37	1	154239019	154239020	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:154239019_154239020CG>AT	uc001fep.4	+	24	3112_3113	c.2945_2946CG>AT	c.(2944-2946)tcg>tAT	p.S982Y	UBAP2L_uc010pel.2_Missense_Mutation_p.S992Y|UBAP2L_uc001feq.3_Missense_Mutation_p.S178Y|UBAP2L_uc001fer.3_Missense_Mutation_p.S178Y	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	Homo sapiens ubiquitin associated protein 2-like (UBAP2L), transcript variant 1, mRNA.	982					binding of sperm to zona pellucida		protein binding	p.S982*(2)|p.S478*(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCAGATATCTCGGGTTCTGTGT	0.500000														347			7		0	0	6.4e-05	0	0
DMBX1	127343	broad.mit.edu	37	1	46976841	46976841	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:46976841G>A	uc001cpx.3	+	2	598	c.583G>A	c.(583-585)Gat>Aat	p.D195N	DMBX1_uc001cpw.3_Missense_Mutation_p.D190N	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	195					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGCCCCCGAGGATCAGCCGGA	0.672000														28			13		0	0	0.00316338	0	0
WDR48	57599	broad.mit.edu	37	3	39133152	39133152	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:39133152C>T	uc003cit.3	+	16	1715	c.1705C>T	c.(1705-1707)Ctc>Ttc	p.L569F	WDR48_uc011ayt.1_Missense_Mutation_p.L560F|WDR48_uc011ayu.1_Missense_Mutation_p.L487F|WDR48_uc011ayv.1_Missense_Mutation_p.L294F|WDR48_uc003ciu.3_Non-coding_Transcript	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN	Homo sapiens WD repeat domain 48 (WDR48), mRNA.	569					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TCCTTTCTACCTCCAACCTCA	0.279000														42			9		0	0	0.000442599	0	0
ANK2	287	broad.mit.edu	37	4	114276594	114276594	+	Missense_Mutation	SNP	C	T	T	rs140258681		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:114276594C>T	uc003ibe.4	+	37	6920	c.6820C>T	c.(6820-6822)Cgt>Tgt	p.R2274C	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.R2289C	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2241					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CACAGAAATTCGTTCAGAAAA	0.478000														16			16		0	0	0.00316338	0	0
IFNAR2	3455	broad.mit.edu	37	21	34635543	34635543	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:34635543C>T	uc002yrd.3	+	8	1614	c.1286C>T	c.(1285-1287)tCt>tTt	p.S429F	IFNAR2_uc002yre.3_Missense_Mutation_p.S429F|IFNAR2_uc002yrf.3_3'UTR|IFNAR2_uc002yri.1_Intron|IFNAR2_uc002yrh.1_Intron	NM_207585	NP_997468	P48551	INAR2_HUMAN	Homo sapiens interferon (alpha, beta and omega) receptor 2 (IFNAR2), transcript variant 1, mRNA.	429					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	GACTTAAACTCTGTGTTTTTG	0.507000														153			56		0	0	0.00361006	0	0
TNPO3	23534	broad.mit.edu	37	7	128630095	128630095	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:128630095A>G	uc010lly.2	-	10	1923	c.1520T>C	c.(1519-1521)gTa>gCa	p.V507A	TNPO3_uc003vol.2_Missense_Mutation_p.V473A|TNPO3_uc010llz.2_Missense_Mutation_p.V473A|TNPO3_uc003vom.2_Missense_Mutation_p.V407A	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	Homo sapiens transportin 3 (TNPO3), transcript variant 1, mRNA.	473					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						AGCCGTATGTACGGTCTCCGG	0.473000														52			34		0	0	0.00375469	0	0
EIF4G3	8672	broad.mit.edu	37	1	21186888	21186888	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:21186888C>T	uc001bec.3	-	18	3322	c.3066G>A	c.(3064-3066)aaG>aaA	p.K1022K	EIF4G3_uc010odi.2_Silent_p.K626K|EIF4G3_uc010odj.2_Silent_p.K1021K|EIF4G3_uc009vpz.3_Silent_p.K742K|EIF4G3_uc001bef.3_Silent_p.K1058K|EIF4G3_uc001bee.3_Silent_p.K1028K	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	1022					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CTGGTCTTCTCTTCTCTTTGG	0.398000														65			69		0	0	0.00361006	0	0
ANAPC1	64682	broad.mit.edu	37	2	112614391	112614391	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:112614391C>T	uc002thi.3	-	11	1678	c.1431G>A	c.(1429-1431)aaG>aaA	p.K477K		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	477					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GTGCTGCATCCTTTGCTGGTA	0.353000														62			7		0	0	0.000442599	0	0
MX1	4599	broad.mit.edu	37	21	42824749	42824749	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:42824749G>A	uc010goq.3	+	13	2057	c.1711G>A	c.(1711-1713)Gac>Aac	p.D571N	MX1_uc002yzh.3_Missense_Mutation_p.D571N|MX1_uc002yzi.3_Missense_Mutation_p.D571N	NM_001178046	NP_002453	P20591	MX1_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) (MX1), transcript variant 3, mRNA.	571					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CTCGGCAACAGACTCTTCCAT	0.498000														182			10		0	0	0.000978159	0	0
USP31	57478	broad.mit.edu	37	16	23080546	23080546	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:23080546G>A	uc002dll.3	-	15	2880	c.2880C>T	c.(2878-2880)tcC>tcT	p.S960S	USP31_uc002dlk.3_Silent_p.S232S|USP31_uc010vca.2_Silent_p.S263S|USP31_uc010bxm.3_Silent_p.S248S	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	960	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CTACGACACTGGAGTTCAATC	0.542000														83			31		0	0	0.0024448	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474589	140474589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140474589G>A	uc003lil.3	+	0	353	c.215G>A	c.(214-216)gGa>gAa	p.G72E	PCDHB2_uc003lim.1_Intron	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	72	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTTCCAAAGGAAAAAAAATG	0.522000														69			11		0	0	0.00244969	0	0
KIAA1804	84451	broad.mit.edu	37	1	233515271	233515271	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:233515271C>T	uc001hvt.4	+	8	2780	c.2519C>T	c.(2518-2520)cCc>cTc	p.P840L	KIAA1804_uc001hvu.4_Missense_Mutation_p.P286L	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	840					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				GATTTTTGTCCCACTGCCCCA	0.517000														71			19		0	0	0.00332997	0	0
OR56B4	196335	broad.mit.edu	37	11	6129497	6129497	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:6129497C>T	uc010qzx.2	+	0	489	c.489C>T	c.(487-489)atC>atT	p.I163I		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 4 (OR56B4), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTTGACCATCCCAGTGCCTA	0.512000														46			26		0	0	0.00106085	0	0
SLC6A11	6538	broad.mit.edu	37	3	10970918	10970918	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:10970918G>A	uc003bvz.3	+	9	1298	c.1264G>A	c.(1264-1266)Gtg>Atg	p.V422M		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	422					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GGTGACCGCCGTGGTGGACAT	0.557000														136			71		0	0	0.00361006	0	0
SLC38A1	81539	broad.mit.edu	37	12	46633496	46633496	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:46633496C>T	uc009zkj.1	-	2	773	c.88G>A	c.(88-90)Gat>Aat	p.D30N	SLC38A1_uc001rpb.3_Missense_Mutation_p.D30N|SLC38A1_uc001rpc.3_Missense_Mutation_p.D30N|SLC38A1_uc001rpd.3_Missense_Mutation_p.D30N|SLC38A1_uc001rpe.3_Missense_Mutation_p.D30N|SLC38A1_uc010slh.2_Intron|SLC38A1_uc001rpa.3_Missense_Mutation_p.D30N	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	30					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TCGGTGAAATCATTGGAGTCA	0.383000														69			16		0	0	0.000958276	0	0
PMS2	5395	broad.mit.edu	37	7	6042170	6042170	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:6042170G>A	uc003spl.3	-	4	538	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C	PMS2_uc003spj.3_Missense_Mutation_p.R45C|PMS2_uc003spk.3_Missense_Mutation_p.R16C|PMS2_uc011jwl.2_Missense_Mutation_p.R16C|PMS2_uc010ktg.3_5'UTR|PMS2_uc010kte.3_Missense_Mutation_p.R151C|PMS2_uc010ktf.2_Missense_Mutation_p.R151C	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	151					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CCTCTGGGGCGGGGGTAGGGG	0.473000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					112			52		0	0	0.00361006	0	0
TTN	7273	broad.mit.edu	37	2	179640917	179640917	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:179640917C>T	uc021vsy.1	-	27	5899	c.5674G>A	c.(5674-5676)Gat>Aat	p.D1892N	TTN_uc021vsz.1_Missense_Mutation_p.D1846N|TTN_uc021vta.1_Missense_Mutation_p.D1846N|TTN_uc021vtb.1_Missense_Mutation_p.D1846N|TTN_uc002unb.2_Missense_Mutation_p.D1892N|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1892	Ig-like 9.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V1892V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGATACCATCATAGCGAACT	0.483000														57			34		0	0	0.000953801	0	0
ZNF559	84527	broad.mit.edu	37	19	9453434	9453434	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:9453434C>T	uc002mle.4	+	5	1906	c.1499C>T	c.(1498-1500)cCt>cTt	p.P500L	ZNF559_uc002mld.3_3'UTR|ZNF559_uc021uoj.1_Missense_Mutation_p.P394L|ZNF559_uc010xkn.2_Missense_Mutation_p.P428L|ZNF559_uc021uok.1_Missense_Mutation_p.P436L|ZNF559_uc021uol.1_3'UTR|ZNF559_uc010dwk.2_3'UTR|ZNF559_uc002mlf.3_3'UTR|ZNF559_uc010dwl.2_3'UTR|ZNF559_uc021uom.1_3'UTR|ZNF177_uc002mli.3_Intron|ZNF177_uc002mlj.3_Intron	NM_001202406	NP_001189335	Q9BR84	ZN559_HUMAN	Homo sapiens zinc finger protein 559 (ZNF559), transcript variant 1, mRNA.	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						GCAGAAAGGCCTTTTGAATGT	0.418000														35			18		0	0	0.000958276	0	0
FAT3	120114	broad.mit.edu	37	11	92616278	92616278	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:92616278G>A	uc001pdj.4	+	22	12673	c.12656G>A	c.(12655-12657)cGc>cAc	p.R4219H	FAT3_uc001pdi.4_Missense_Mutation_p.R659H	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4219					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.R4219H(2)|p.R794H(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGGGACGGCCGCAACGTCTAC	0.652000										TCGA Ovarian(4;0.039)				137			104		0	0	0.00361006	0	0
ANKRD1	27063	broad.mit.edu	37	10	92677521	92677521	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:92677521C>T	uc001khe.1	-	4	768	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K		NM_014391	NP_055206	Q15327	ANKR1_HUMAN	Homo sapiens ankyrin repeat domain 1 (cardiac muscle) (ANKRD1), mRNA.	174					cellular lipid metabolic process|defense response|signal transduction		DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				GCTCCAGCTTCCATTAACTTC	0.403000														33			12		0	0	0.00244969	0	0
FAM83C	128876	broad.mit.edu	37	20	33879631	33879631	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:33879631C>T	uc021wck.1	-	0	595	c.477G>A	c.(475-477)aaG>aaA	p.K159K	FAM83C_uc002xcb.1_5'UTR	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	159										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCAGCAGGTCCTTGATGTTCT	0.607000														87			47		0	0	0.00361006	0	0
ABCA8	10351	broad.mit.edu	37	17	66871424	66871424	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:66871424G>A	uc002jhq.3	-	36	4948	c.4608C>T	c.(4606-4608)ttC>ttT	p.F1536F	ABCA8_uc002jhp.3_Silent_p.F1496F|ABCA8_uc010wqq.2_Silent_p.F1531F	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	1496						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.D1536A(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CAGCCTGGGGGAAAAGCCTCA	0.463000														53			32		0	0	0.00327116	0	0
DHTKD1	55526	broad.mit.edu	37	10	12129723	12129723	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:12129723C>T	uc001ild.4	+	3	811	c.712C>T	c.(712-714)Cca>Tca	p.P238S		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.	238					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GCAGTTCCCTCCAGAGGTAAG	0.448000														152			71		0	0	0.00361006	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140214287	140214287	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140214287G>A	uc003lhq.2	+	0	319	c.319G>A	c.(319-321)Gag>Aag	p.E107K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.E107K	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	122	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCACCTGGAGGTGATCGT	0.552000														228			14		0	0	0.00152264	0	0
SALL1	6299	broad.mit.edu	37	16	51175780	51175780	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:51175780C>T	uc021tif.1	-	1	384	c.62G>A	c.(61-63)gGa>gAa	p.G21E	SALL1_uc021tid.1_Missense_Mutation_p.G21E|SALL1_uc021tie.1_Missense_Mutation_p.G118E|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	118					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			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)			CCTGTCAAGTCCGTTGTGTTC	0.552000														81			47		0	0	0.00361006	0	0
SLC16A9	220963	broad.mit.edu	37	10	61414278	61414278	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:61414278C>T	uc010qig.1	-	4	955	c.506G>A	c.(505-507)gGa>gAa	p.G169E		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	169					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CAGCAAGCATCCATCCAGTCC	0.438000														71			27		0	0	0.001512	0	0
ZNF880	400713	broad.mit.edu	37	19	52887591	52887591	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:52887591C>T	uc002pzc.3	+	3	807	c.758C>T	c.(757-759)tCa>tTa	p.S253L	ZNF880_uc021uyu.1_Missense_Mutation_p.S253L|ZNF880_uc021uyv.1_5'Flank	NM_001145434	NP_001138906	Q6PDB4	ZN880_HUMAN	Homo sapiens zinc finger protein 880 (ZNF880), mRNA.	253					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						AATCGAATTTCACTCCTTGCA	0.393000														12			4		0	0	0.00116845	0	0
SPSB4	92369	broad.mit.edu	37	3	140785431	140785431	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:140785431C>T	uc003ett.3	+	1	730	c.485C>T	c.(484-486)cCg>cTg	p.P162L	SPSB4_uc010hum.3_Missense_Mutation_p.P162L	NM_080862	NP_543138	Q96A44	SPSB4_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 4 (SPSB4), mRNA.	162	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GTGGCCTACCCGGCCTTTCTG	0.682000														4			4		0	0	0.00024832	0	0
SERPINA5	5104	broad.mit.edu	37	14	95056491	95056491	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:95056491C>G	uc001ydm.2	+	3	943	c.733C>G	c.(733-735)Ctc>Gtc	p.L245V	SERPINA5_uc010ave.2_Missense_Mutation_p.L245V|SERPINA3_uc001ydo.4_5'Flank	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	245					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GTATCACTACCTCCTGGACCG	0.572000														31			8		0	0	0.00307968	0	0
KDM5B	10765	broad.mit.edu	37	1	202719899	202719899	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:202719899C>T	uc009xag.3	-	13	1933	c.1817G>A	c.(1816-1818)cGa>cAa	p.R606Q	KDM5B_uc001gyf.3_Missense_Mutation_p.R570Q|KDM5B_uc001gyg.1_Missense_Mutation_p.R412Q	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	570	JmjC.				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CTGATTAGTTCGGTAAACCTA	0.363000														72			57		0	0	0.00361006	0	0
CCDC108	255101	broad.mit.edu	37	2	219888010	219888010	+	Silent	SNP	G	A	A	rs144661790		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:219888010G>A	uc002vjl.1	-	15	2823	c.2739C>T	c.(2737-2739)ttC>ttT	p.F913F		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	913	MSP.					integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCTCCACTCGAACTGCAGGG	0.627000														21			20		0	0	0.00332997	0	0
TNR	7143	broad.mit.edu	37	1	175332919	175332919	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:175332919C>T	uc001gkp.1	-	10	2713	c.2632G>A	c.(2632-2634)Gac>Aac	p.D878N	TNR_uc009wwu.1_Missense_Mutation_p.D878N	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	878	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.K877fs*4(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ATCACTGAGTCCTTGGTCACA	0.433000														85			24		0	0	0.000878237	0	0
RBPMS	11030	broad.mit.edu	37	8	30332344	30332344	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:30332344A>G	uc003xic.1	+	1	781	c.116A>G	c.(115-117)gAg>gGg	p.E39G	RBPMS_uc003xid.1_Missense_Mutation_p.E39G|RBPMS_uc003xie.1_Missense_Mutation_p.E39G|RBPMS_uc003xif.1_5'Flank|RBPMS_uc011lba.1_Missense_Mutation_p.E39G|RBPMS_uc003xib.3_Missense_Mutation_p.E39G|RBPMS_uc010lvh.1_5'UTR	NM_006867	NP_006858	Q93062	RBPMS_HUMAN	Homo sapiens RNA binding protein with multiple splicing (RBPMS), transcript variant 4, mRNA.	39	RRM.				RNA processing|positive regulation of SMAD protein import into nucleus|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity	p.R38L(1)|p.R38R(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		AAACCTCGGGAGCTCTATCTG	0.403000														112			38		0	0	0.00361006	0	0
KRBA1	84626	broad.mit.edu	37	7	149420913	149420913	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:149420913C>T	uc003wfz.3	+	7	1260	c.861C>T	c.(859-861)ccC>ccT	p.P287P	KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_5'UTR	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA.	287										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACAGGCATCCCAGTCCCTCAG	0.612000														41			23		0	0	0.00278032	0	0
LTBR	4055	broad.mit.edu	37	12	6499402	6499403	+	Missense_Mutation	DNP	CC	AA	AA	rs34407931	byFrequency	TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:6499402_6499403CC>AA	uc001qny.1	+	8	1094_1095	c.926_927CC>AA	c.(925-927)ccc>cAA	p.P309Q	LTBR_uc010sfc.1_Missense_Mutation_p.P290Q|LTBR_uc001qnz.1_Missense_Mutation_p.P304Q	NM_002342	NP_002333	P36941	TNR3_HUMAN	Homo sapiens lymphotoxin beta receptor (TNFR superfamily, member 3) (LTBR), mRNA.	309					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						ACTGGGCTCCCCGCAGCCCCAG	0.629000														56			5		0	0	6.4e-05	0	0
DQ572100	0	broad.mit.edu	37	8	125934332	125934332	+	RNA	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:125934332C>T	uc003yrn.1	-	0		c.24G>A								Homo sapiens piRNA piR-40212, complete sequence.																		TAGGAACAACCCCATGGATAC	0.398000														6			4		0	0	0.00024832	0	0
CSMD1	64478	broad.mit.edu	37	8	3200950	3200950	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:3200950G>A	uc022aqr.1	-	22	3887	c.3497C>T	c.(3496-3498)tCc>tTc	p.S1166F	CSMD1_uc011kwj.2_Missense_Mutation_p.S559F|CSMD1_uc003wqe.3_Missense_Mutation_p.S323F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1167	CUB 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGGACGTGAGGAACTGTCTTT	0.423000														10			6		0	0	0.00307968	0	0
ZNF362	149076	broad.mit.edu	37	1	33741748	33741748	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:33741748C>T	uc001bxc.1	+	2	256	c.86C>T	c.(85-87)cCc>cTc	p.P29L		NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN	Homo sapiens zinc finger protein 362 (ZNF362), mRNA.	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCCCCTCCTCCCACCATGCCC	0.662000														62			24		0	0	0.00278032	0	0
MACF1	23499	broad.mit.edu	37	1	39913438	39913438	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:39913438C>T	uc021olw.1	+	46	15165	c.15165C>T	c.(15163-15165)ttC>ttT	p.F5055F	MACF1_uc021ols.1_Silent_p.F4550F|MACF1_uc021olt.1_Silent_p.F4553F	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	6620					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AATTAAAGTTCCTTAGCCAAA	0.423000														64			33		0	0	0.00375469	0	0
PSG9	5678	broad.mit.edu	37	19	43773533	43773533	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:43773533C>T	uc002owd.4	-	0	150	c.51G>A	c.(49-51)ggG>ggA	p.G17G	PSG9_uc002owe.4_Silent_p.G17G|PSG9_uc010xwm.2_Silent_p.G17G|PSG9_uc002owf.4_Silent_p.G17G|PSG9_uc002owg.2_Silent_p.G17G	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	17					female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TGAGCAGGAGCCCCTTCCAGG	0.602000														63			33		0	0	0.0025221	0	0
FLT3	2322	broad.mit.edu	37	13	28602361	28602361	+	Silent	SNP	T	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:28602361T>A	uc001urw.3	-	15	2089	c.2007A>T	c.(2005-2007)ggA>ggT	p.G669G	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Silent_p.G669G	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	669	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.L668L(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCTCGTGGCTTCCCAGCTGGG	0.448000			"""Mis, O"""		"""AML, ALL"""									31			16		0	0	0.000958276	0	0
SORCS3	22986	broad.mit.edu	37	10	107012637	107012637	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:107012637G>A	uc001kyi.1	+	22	3437	c.3210G>A	c.(3208-3210)agG>agA	p.R1070R	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1070						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		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)		CAGAGAGGAGGAAAGGCAATG	0.527000														27			7		0	0	0.00198382	0	0
GJA5	2702	broad.mit.edu	37	1	147230570	147230570	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:147230570C>T	uc021ovl.1	-	0	777	c.777G>A	c.(775-777)caG>caA	p.Q259Q	GJA5_uc001eps.1_Silent_p.Q259Q|GJA5_uc001ept.1_Silent_p.Q259Q	NM_181703	NP_859054	P36382	CXA5_HUMAN	Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.	259					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			GTGTGCAGCTCTGGACTATGC	0.532000														44			28		0	0	0.000878237	0	0
CEP192	55125	broad.mit.edu	37	18	13073048	13073048	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr18:13073048A>G	uc010xac.2	+	29	5560	c.5480A>G	c.(5479-5481)aAc>aGc	p.N1827S	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Missense_Mutation_p.N1352S|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_Missense_Mutation_p.N249S|CEP192_uc002krx.3_5'UTR	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	1422										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTGACCAGTAACTGTGAGATC	0.348000														75			7		0	0	0.000274275	0	0
NARFL	64428	broad.mit.edu	37	16	789655	789655	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:789655G>A	uc002cjr.3	-	1	162	c.150C>T	c.(148-150)ttC>ttT	p.F50F	NARFL_uc002cjp.3_5'Flank|NARFL_uc002cjq.3_5'UTR|NARFL_uc021tab.1_Non-coding_Transcript|NARFL_uc010brc.1_Silent_p.F50F|NARFL_uc010uur.1_Silent_p.F50F	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN	Homo sapiens nuclear prelamin A recognition factor-like (NARFL), mRNA.	50					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				GGTTAATTTGGAAGTAGCTCC	0.537000														78			52		0	0	0.00361006	0	0
STARD10	10809	broad.mit.edu	37	11	72466185	72466185	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:72466185G>A	uc001osy.3	-	6	817	c.633C>T	c.(631-633)gcC>gcT	p.A211A	ARAP1_uc001osv.3_Intron|STARD10_uc001osz.4_Silent_p.A211A|STARD10_uc001ota.3_Silent_p.A165A|STARD10_uc001otb.3_Silent_p.A211A|ARAP1_uc001osu.3_5'Flank	NM_006645	NP_006636	Q9Y365	PCTL_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 10 (STARD10), mRNA.	211	START.									endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			TCTTCTTCATGGCCTGTGGGC	0.667000														98			22		0	0	0.00332997	0	0
AFTPH	54812	broad.mit.edu	37	2	64819118	64819118	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:64819118C>T	uc002sdc.3	+	8	2795	c.2763C>T	c.(2761-2763)ttC>ttT	p.F921F	AFTPH_uc002scz.3_Silent_p.F920F|AFTPH_uc002sda.3_Silent_p.F892F|AFTPH_uc002sdb.3_Silent_p.F893F	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	Homo sapiens aftiphilin (AFTPH), transcript variant 1, mRNA.	921					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TGTTGATGTTCCCAGCCACGT	0.438000														38			27		0	0	0.000878237	0	0
DYM	54808	broad.mit.edu	37	18	46784834	46784834	+	Silent	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr18:46784834T>C	uc002ldi.1	-	11	1646	c.1281A>G	c.(1279-1281)gaA>gaG	p.E427E	DYM_uc010xdf.1_Silent_p.E237E|DYM_uc002ldj.3_Silent_p.E249E|DYM_uc010dov.1_5'UTR	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN	Homo sapiens dymeclin (DYM), mRNA.	427						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						TTAAAACTCGTTCTGAATACC	0.358000														14			16		0	0	0.000566183	0	0
DAPP1	27071	broad.mit.edu	37	4	100738097	100738097	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:100738097G>A	uc003hvf.4	+	0	117	c.27G>A	c.(25-27)ggG>ggA	p.G9G	DAPP1_uc011cek.2_Silent_p.G9G|DAPP1_uc010ilh.3_Silent_p.G9G	NM_014395	NP_055210	Q9UN19	DAPP1_HUMAN	Homo sapiens dual adaptor of phosphotyrosine and 3-phosphoinositides (DAPP1), mRNA.	9					signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		TTCTAGAAGGGAAGATGAGCA	0.557000														3			3		0	0	0.000602214	0	0
MAEA	10296	broad.mit.edu	37	4	1305797	1305797	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:1305797C>T	uc003gda.3	+	1	130	c.100C>T	c.(100-102)Cgc>Tgc	p.R34C	MAEA_uc010ibs.1_Missense_Mutation_p.R34C|MAEA_uc003gdd.3_Non-coding_Transcript|MAEA_uc003gdb.3_Missense_Mutation_p.R34C|MAEA_uc011bvb.2_Missense_Mutation_p.R34C|MAEA_uc003gdc.3_Missense_Mutation_p.R34C|MAEA_uc011bvc.2_Missense_Mutation_p.R33C|MAEA_uc011bvd.2_5'UTR	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	Homo sapiens macrophage erythroblast attacher (MAEA), transcript variant 1, mRNA.	34	Extracellular and involved in cell to cell contact.		R -> C (in dbSNP:rs34082974).		cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			CAAACGCTTTCGCGCCGCTCA	0.642000														46			23		0	0	0.00106085	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140228399	140228399	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140228399G>A	uc003lhu.2	+	0	1043	c.319G>A	c.(319-321)Gag>Aag	p.E107K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Missense_Mutation_p.E107K	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	122	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCACCTGGAGGTGATCGT	0.547000														137			18		0	0	0.000958276	0	0
MYH13	8735	broad.mit.edu	37	17	10267752	10267752	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:10267752G>A	uc002gmk.1	-	2	186	c.96C>T	c.(94-96)ttC>ttT	p.F32F		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	32	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTTGGAATCGAATGGACGAT	0.463000														16			12		0	0	0.00244969	0	0
SLC23A2	9962	broad.mit.edu	37	20	4839988	4839988	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:4839988G>T	uc002wlg.1	-	15	2042	c.1667C>A	c.(1666-1668)aCt>aAt	p.T556N	SLC23A2_uc010zqr.1_Missense_Mutation_p.T441N|SLC23A2_uc002wlh.1_Missense_Mutation_p.T556N	NM_005116	NP_976072	Q9UGH3	S23A2_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 2 (SLC23A2), transcript variant 1, mRNA.	556					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AAACATAGCAGTTGTGAGAAG	0.428000														125			83		1.14069e-49	2.62447e-49	0.00361006	1	0
LCT	3938	broad.mit.edu	37	2	136567271	136567271	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:136567271G>A	uc002tuu.1	-	7	2657	c.2646C>T	c.(2644-2646)gtC>gtT	p.V882V		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	882	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTTCCCAAACGACTTTAGCCT	0.507000														83			64		0	0	0.00361006	0	0
MON2	23041	broad.mit.edu	37	12	62965244	62965244	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:62965244C>T	uc001sre.3	+	29	4787	c.4396C>T	c.(4396-4398)Ctc>Ttc	p.L1466F	MON2_uc010ssn.2_Missense_Mutation_p.L1460F|MON2_uc009zqj.3_Missense_Mutation_p.L1466F|MON2_uc010ssl.2_Missense_Mutation_p.L1394F|MON2_uc010ssm.2_Missense_Mutation_p.L1437F|MON2_uc001srf.3_Missense_Mutation_p.L1229F|MON2_uc001srg.3_Missense_Mutation_p.L335F	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA.	1467					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		AGTATCCTCTCTCCTCAGAGT	0.423000														113			24		0	0	0.00332997	0	0
ZBTB38	253461	broad.mit.edu	37	3	141161981	141161981	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:141161981G>A	uc010hup.3	+	1	801	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	ZBTB38_uc003etw.3_Missense_Mutation_p.E251K|ZBTB38_uc010hun.3_Missense_Mutation_p.E248K|ZBTB38_uc010huo.3_Missense_Mutation_p.E251K|ZBTB38_uc003ety.3_Missense_Mutation_p.E251K|ZBTB38_uc021xes.1_Missense_Mutation_p.E251K	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.	251					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CACAGGGAAAGAAAATTGTGA	0.478000														26			13		0	0	0.00136819	0	0
TMEFF2	23671	broad.mit.edu	37	2	192821082	192821082	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:192821082T>A	uc002utc.3	-	7	1162	c.768A>T	c.(766-768)gaA>gaT	p.E256D		NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	Homo sapiens transmembrane protein with EGF-like and two follistatin-like domains 2 (TMEFF2), mRNA.	256						extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CTCTGGCACTTTCTTCTAATT	0.413000														35			10		0	0	0.000673444	0	0
ADAM21	8747	broad.mit.edu	37	14	70924751	70924751	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:70924751G>A	uc021rvq.1	+	0	535	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	ADAM21_uc001xmd.3_Missense_Mutation_p.E179K	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	179					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AACAGAGAAGGAAGTAGCACG	0.458000														28			10		0	0	0.000673444	0	0
ETHE1	23474	broad.mit.edu	37	19	44015617	44015618	+	Missense_Mutation	DNP	AC	CT	CT			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:44015617_44015618AC>CT	uc010eiu.1	-	3	543_544	c.476_477GT>AG	c.(475-477)cgt>cAG	p.R159Q	ETHE1_uc002owp.3_Missense_Mutation_p.R159Q	NM_014297	NP_055112	O95571	ETHE1_HUMAN	Homo sapiens ethylmalonic encephalopathy 1 (ETHE1), nuclear gene encoding mitochondrial protein, mRNA.	159						mitochondrial matrix|nucleus	hydrolase activity|metal ion binding			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				GCCCACACCCACGGATCAACAG	0.550000														52			7		0	0	6.4e-05	0	0
RNPEPL1	57140	broad.mit.edu	37	2	241516377	241516377	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:241516377C>T	uc002vzi.3	+	9	1854	c.1161C>T	c.(1159-1161)ctC>ctT	p.L387L	RNPEPL1_uc002vzj.3_Silent_p.L35L	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN	Homo sapiens arginyl aminopeptidase (aminopeptidase B)-like 1 (RNPEPL1), mRNA.	387					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		ATCCTGACCTCCACAGGGTGC	0.652000														61			17		0	0	0.00121646	0	0
HTT	3064	broad.mit.edu	37	4	3123107	3123107	+	Silent	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:3123107T>C	uc021xkv.1	+	8	1366	c.1221T>C	c.(1219-1221)gcT>gcC	p.A407A		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	407					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TCACCGCTGCTAAGGAGGAGT	0.542000														73			24		0	0	0.00106085	0	0
DHRS7C	201140	broad.mit.edu	37	17	9683210	9683210	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:9683210T>C	uc010vvb.2	-	2	426	c.413A>G	c.(412-414)aAg>aGg	p.K138R	DHRS7C_uc010cof.3_Missense_Mutation_p.K137R	NM_001220493	NP_001207422	A6NNS2	DRS7C_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7C (DHRS7C), transcript variant 1, mRNA.	138						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						CAGAGAAATCTTATGGGCAGG	0.483000														14			9		0	0	0.000442599	0	0
CYP2A13	1553	broad.mit.edu	37	19	41601812	41601812	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:41601812C>T	uc002opt.3	+	8	1460	c.1451C>T	c.(1450-1452)cCa>cTa	p.P484L		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	484					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	GCCACGATCCCACGAAACTAC	0.632000														66			25		0	0	0.000720815	0	0
CAGE1	285782	broad.mit.edu	37	6	7374301	7374301	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:7374301C>T	uc003mxl.2	-	4	1282	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	CAGE1_uc003mxh.3_Non-coding_Transcript|CAGE1_uc021ylc.1_Missense_Mutation_p.E115K|CAGE1_uc003mxj.3_Missense_Mutation_p.E6K|CAGE1_uc003mxk.2_Missense_Mutation_p.E251K	NM_001170692	NP_001164163	Q8TC20	CAGE1_HUMAN	Homo sapiens cancer antigen 1 (CAGE1), transcript variant 1, mRNA.	251										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					ACTTCCTTTTCATAACTGACT	0.438000														157			38		0	0	0.00170553	0	0
GABRQ	55879	broad.mit.edu	37	X	151821304	151821304	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:151821304G>A	uc004ffp.1	+	8	1479	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	487						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CAACCGTGTCGAAGCCCATGG	0.557000														23			78		0	0	0.00361006	0	0
GPT	2875	broad.mit.edu	37	8	145731980	145731981	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:145731980_145731981GG>AA	uc003zdh.4	+	8	1451_1452	c.1228_1229GG>AA	c.(1228-1230)ggc>AAc	p.G410N	MFSD3_uc003zdi.1_5'Flank	NM_005309	NP_005300	P24298	ALAT1_HUMAN	Homo sapiens glutamic-pyruvate transaminase (alanine aminotransferase) (GPT), mRNA.	410					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CCCAGTGCAGGGCGCCATGTAC	0.718000														4			4		0	0	6.4e-05	0	0
COL6A1	1291	broad.mit.edu	37	21	47423519	47423519	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:47423519C>T	uc002zhu.1	+	34	2781	c.2679C>T	c.(2677-2679)ttC>ttT	p.F893F	COL6A1_uc002zhv.1_Silent_p.F224F	NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	893	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CGCTGCAGTTCCTGCAGAACT	0.672000														19			10		0	0	0.000673444	0	0
OR8S1	341568	broad.mit.edu	37	12	48919535	48919535	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:48919535G>A	uc010slu.2	+	0	121	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E41K(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GACCATAATGGAAAACCTGAT	0.512000														92			57		0	0	0.00361006	0	0
OR51S1	119692	broad.mit.edu	37	11	4869916	4869916	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:4869916G>A	uc010qyo.2	-	0	523	c.523C>T	c.(523-525)Ccc>Tcc	p.P175S		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGCAGTAGGGCATGTAGGCC	0.542000														98			27		0	0	0.00178596	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762728	130762728	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:130762728C>T	uc003qcb.3	+	1	3539	c.1161C>T	c.(1159-1161)tcC>tcT	p.S387S	TMEM200A_uc003qca.3_Silent_p.S387S|TMEM200A_uc010kfh.3_Silent_p.S387S|TMEM200A_uc010kfi.3_Silent_p.S387S|TMEM200A_uc021zfg.1_Silent_p.S387S	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	387						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CCAATACATCCTTGCATTTGC	0.527000														23			17		0	0	0.000958276	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525628	176525628	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:176525628G>A	uc001gkz.3	+	1	1334	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	PAPPA2_uc001gky.1_Missense_Mutation_p.R57Q|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	57					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCCAAGGTTCGAAGACCCAGA	0.562000														70			108		0	0	0.00361006	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554513	140554513	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140554513C>T	uc003lit.3	+	0	2271	c.2097C>T	c.(2095-2097)ttC>ttT	p.F699F	PCDHB8_uc011dai.2_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	699					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTCGCTCTTCCTCCTCTCGG	0.706000														105			5		0	0	0.00198382	0	0
EMR1	2015	broad.mit.edu	37	19	6924760	6924760	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:6924760C>T	uc002mfw.3	+	14	1901	c.1863C>T	c.(1861-1863)atC>atT	p.I621I	EMR1_uc010dvc.3_Intron|EMR1_uc010dvb.3_Silent_p.I569I|EMR1_uc010xji.2_Silent_p.I480I|EMR1_uc010xjj.2_Silent_p.I444I	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	621					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TCTTGGCCATCGCCACCTTTC	0.522000														42			19		0	0	0.00121646	0	0
MYH8	4626	broad.mit.edu	37	17	10319000	10319000	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:10319000G>A	uc002gmm.2	-	5	632	c.537C>T	c.(535-537)atC>atT	p.I179I	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	179	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCACATACGTGATCAGGATGG	0.343000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					11			10		0	0	0.000978159	0	0
IMPG2	50939	broad.mit.edu	37	3	100964655	100964655	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:100964655C>T	uc003duq.2	-	11	1737	c.1534G>A	c.(1534-1536)Gta>Ata	p.V512I	IMPG2_uc011bhe.2_Missense_Mutation_p.V375I	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA.	512					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CCATCTTCTACCAAGTGAGAT	0.433000														96			50		0	0	0.00361006	0	0
ODF1	4956	broad.mit.edu	37	8	103573083	103573083	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:103573083C>T	uc003ykt.2	+	1	832	c.724C>T	c.(724-726)Cga>Tga	p.R242*		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	Homo sapiens outer dense fiber of sperm tails 1 (ODF1), mRNA.	242					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity	p.R242Q(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CTGTGGAAGCCGATTTTCCTG	0.537000														122			7		0	0	0.00307968	0	0
SIRPB1	10326	broad.mit.edu	37	20	1600548	1600548	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:1600548G>A	uc010gai.3	-	0	142	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L	SIRPB1_uc002wfk.4_Silent_p.L15L|SIRPB1_uc002wfl.4_Silent_p.L15L	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	15					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GTCATCAGCAGGAAAGGACTA	0.567000														49			13		0	0	0.00316338	0	0
PCDHB14	56122	broad.mit.edu	37	5	140604707	140604707	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140604707G>A	uc003ljb.3	+	0	1630	c.1630G>A	c.(1630-1632)Gag>Aag	p.E544K		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	544	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTGAGCAGCGAGGCGCTGGT	0.687000														35			7		0	0	0.00198382	0	0
ILDR1	286676	broad.mit.edu	37	3	121712217	121712217	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:121712217C>T	uc003ees.3	-	6	1582	c.1379G>A	c.(1378-1380)gGg>gAg	p.G460E	ILDR1_uc003eeq.3_Missense_Mutation_p.G428E|ILDR1_uc003eer.3_Missense_Mutation_p.G416E|ILDR1_uc010hrg.3_Missense_Mutation_p.G371E	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	460	Arg-rich.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GCGTCGTCTCCCGTGCCTCTG	0.692000														11			8		0	0	0.00307968	0	0
MUC3A	4584	broad.mit.edu	37	7	100552275	100552275	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:100552275G>A	uc003uxl.1	+	0	1526	c.726G>A	c.(724-726)atG>atA	p.M242I	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GTGTTGAAATGGATCCCAGCA	0.483000														287			80		0	0	0.00361006	0	0
OR51F1	256892	broad.mit.edu	37	11	4791114	4791114	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:4791114G>A	uc010qyl.2	-	0	34	c.34C>T	c.(34-36)Cca>Tca	p.P12S		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	12						integral to membrane	olfactory receptor activity	p.P12fs*5(2)|p.P12P(1)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AAGAAGGTTGGAAATTTAGAT	0.443000														12			4		0	0	0.00024832	0	0
ZNF578	147660	broad.mit.edu	37	19	53014273	53014273	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:53014273C>T	uc002pzp.4	+	5	883	c.639C>T	c.(637-639)ttC>ttT	p.F213F		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ATAATTTTTTCCATTCATCAT	0.358000														61			32		0	0	0.00178596	0	0
PUS7L	83448	broad.mit.edu	37	12	44148981	44148981	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:44148981A>T	uc001rns.4	-	1	148	c.68T>A	c.(67-69)tTt>tAt	p.F23Y	PUS7L_uc001rnq.4_Missense_Mutation_p.F23Y|PUS7L_uc001rnr.4_Missense_Mutation_p.F23Y|PUS7L_uc009zkb.3_Intron	NM_031292	NP_112582	Q9H0K6	PUS7L_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae)-like (PUS7L), transcript variant 3, mRNA.	23					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity	p.G22V(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		AGTGCCATGAAATCCAACGTG	0.328000														24			18		0	0	0.000566183	0	0
RIMBP3	85376	broad.mit.edu	37	22	20458068	20458068	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:20458068G>A	uc002zsd.4	-	0	3719	c.3234C>T	c.(3232-3234)ttC>ttT	p.F1078F	RN7SK_uc021wlw.1_5'Flank	NM_015672	NP_056487			Homo sapiens RIMS binding protein 3 (RIMBP3), mRNA.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			AGAGTGTGTCGAAGGTGACGG	0.662000														29			5		0	0	0.000602214	0	0
SPRY3	10251	broad.mit.edu	37	X	155003687	155003687	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:155003687G>A	uc022cio.1	+	0	154	c.154G>A	c.(154-156)Gat>Aat	p.D52N	SPRY3_uc004fnq.1_Missense_Mutation_p.D52N	NM_005840	NP_005831	O43610	SPY3_HUMAN	Homo sapiens sprouty homolog 3 (Drosophila) (SPRY3), mRNA.	52					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCACAAGTCTGATTGGTCTCT	0.562000														94			54		0	0	0.00361006	0	0
OR4K17	390436	broad.mit.edu	37	14	20585705	20585706	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:20585705_20585706GA>AT	uc001vwo.1	+	0	140_141	c.140_141GA>AT	c.(139-141)gga>gAT	p.G47D		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ATTTTGCTGGGACTGACCAGCT	0.426000														109			22		0	0	6.4e-05	0	0
TTN	7273	broad.mit.edu	37	2	179568946	179568946	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:179568946G>A	uc021vsy.1	-	102	26644	c.26419C>T	c.(26419-26421)Cga>Tga	p.R8807*	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.R5468*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9734	Ig-like 71.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTCTGCTCGAACATCTGCA	0.423000														56			13		0	0	0.00136819	0	0
CLIC2	1193	broad.mit.edu	37	X	154528438	154528438	+	Silent	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:154528438A>G	uc004fnf.3	-	1	328	c.78T>C	c.(76-78)agT>agC	p.S26S	CLIC2_uc010nvj.1_Silent_p.S44S	NM_001289	NP_001280	O15247	CLIC2_HUMAN	Homo sapiens chloride intracellular channel 2 (CLIC2), mRNA.	26	N-terminal.|Required for insertion into the membrane (By similarity).				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGTTTCCAATACTCTCTCCAT	0.373000														14			40		0	0	0.00148497	0	0
NPTX1	4884	broad.mit.edu	37	17	78444653	78444653	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:78444653G>A	uc002jyp.1	-	4	1417	c.1259C>T	c.(1258-1260)gCc>gTc	p.A420V		NM_002522	NP_002513	Q15818	NPTX1_HUMAN	Homo sapiens neuronal pentraxin I (NPTX1), mRNA.	420	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			CCACTTGGTGGCCCCTCCGTA	0.657000														33			14		0	0	0.000958276	0	0
NEB	4703	broad.mit.edu	37	2	152388399	152388399	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:152388399C>T	uc021vrb.1	-	114	16355	c.16326G>A	c.(16324-16326)agG>agA	p.R5442R	NEB_uc002txr.3_Silent_p.R1908R|NEB_uc002txu.3_Silent_p.R7143R|NEB_uc021vrc.1_Silent_p.R7143R|NEB_uc010fnx.3_Silent_p.R5430R|NEB_uc021vrd.1_Silent_p.R5442R|NEB_uc002txt.4_5'UTR	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	5442					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATAGTTTTTCCTGTATTTGA	0.373000														20			4		0	0	0.00024832	0	0
HPD	3242	broad.mit.edu	37	12	122284839	122284839	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:122284839C>T	uc001ubj.3	-	11	800	c.760_splice	c.e11-1	p.E254_splice	HPD_uc001ubk.3_Splice_Site_p.E215_splice	NM_002150	NP_001165464	P32754	HPPD_HUMAN	Homo sapiens 4-hydroxyphenylpyruvate dioxygenase (HPD), transcript variant 1, mRNA.	254					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TCCACATATTCCTGGGGGAGG	0.587000														18			15		0	0	0.00244969	0	0
NLRP3	114548	broad.mit.edu	37	1	247588508	247588508	+	Missense_Mutation	SNP	G	A	A	rs142624094		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:247588508G>A	uc001icr.3	+	4	1901	c.1763G>A	c.(1762-1764)aGg>aAg	p.R588K	NLRP3_uc001ics.3_Missense_Mutation_p.R588K|NLRP3_uc001icu.3_Missense_Mutation_p.R588K|NLRP3_uc001icw.3_Missense_Mutation_p.R588K|NLRP3_uc001icv.3_Missense_Mutation_p.R588K|NLRP3_uc010pyw.2_Missense_Mutation_p.R586K|NLRP3_uc001ict.1_Missense_Mutation_p.R586K	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	588					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AACCAGGAGAGGACCTCCTAC	0.438000														38			61		0	0	0.00361006	0	0
TJAP1	93643	broad.mit.edu	37	6	43472807	43472807	+	Silent	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:43472807T>C	uc003ovd.2	+	10	1264	c.888T>C	c.(886-888)acT>acC	p.T296T	TJAP1_uc003ovf.2_Silent_p.T286T|TJAP1_uc003ove.2_Silent_p.T286T|TJAP1_uc003ovc.2_Silent_p.T286T|TJAP1_uc010jyp.2_Silent_p.T255T|TJAP1_uc011dvh.1_Silent_p.T286T|TJAP1_uc003ovg.2_Silent_p.T162T|TJAP1_uc011dvi.1_Silent_p.T296T|TJAP1_uc011dvj.2_Silent_p.T96T|TJAP1_uc003ovi.2_Silent_p.T162T	NM_001146016	NP_001139489	Q5JTD0	TJAP1_HUMAN	Homo sapiens tight junction associated protein 1 (peripheral) (TJAP1), transcript variant 1, mRNA.	296	Pro-rich.					Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTCTGGGTACTGCCAGGGGCT	0.652000														19			18		0	0	0.000958276	0	0
DPY19L2P3	442524	broad.mit.edu	37	7	29771646	29771646	+	RNA	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:29771646G>A	uc003tai.3	+	8		c.722G>A								Homo sapiens dpy-19-like 2 pseudogene 3 (C. elegans) (DPY19L2P3), transcript variant 1, non-coding RNA.																		TCCACATTACGAAGATGCAGA	0.428000														40			11		0	0	0.00136819	0	0
CD207	50489	broad.mit.edu	37	2	71060970	71060970	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:71060970C>T	uc002shg.3	-	2	419	c.372G>A	c.(370-372)ctG>ctA	p.L124L		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	Homo sapiens CD207 molecule, langerin (CD207), mRNA.	124					defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						TTTTTAACTTCAGGAACTGAG	0.448000														22			28		0	0	0.001512	0	0
RANBP2	5903	broad.mit.edu	37	2	109382422	109382422	+	Silent	SNP	A	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:109382422A>C	uc002tem.4	+	19	5553	c.5427A>C	c.(5425-5427)ccA>ccC	p.P1809P		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	1809					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CCTCTAAACCAACTCATAAAC	0.418000														26			23		0	0	0.00229938	0	0
ZNF19	7567	broad.mit.edu	37	16	71509172	71509173	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:71509172_71509173GG>TT	uc010cgc.1	-	5	1783_1784	c.1277_1278CC>AA	c.(1276-1278)tcc>tAA	p.S426*	ZNF23_uc002fai.3_Intron|ZNF19_uc002fak.1_Nonsense_Mutation_p.S414*|ZNF19_uc002fal.1_Nonsense_Mutation_p.S414*|ZNF19_uc002fam.1_Nonsense_Mutation_p.S426*	NM_006961	NP_008892	P17023	ZNF19_HUMAN	Homo sapiens zinc finger protein 19 (ZNF19), mRNA.	426						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		GACCTAGCTGGGAAGAAGTCCC	0.450000														41			11		0	0	6.4e-05	0	0
HNRNPK	3190	broad.mit.edu	37	9	86586929	86586929	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:86586929G>A	uc004ang.4	-	10	1045	c.821C>T	c.(820-822)cCt>cTt	p.P274L	HNRNPK_uc011lsw.2_Missense_Mutation_p.P34L|HNRNPK_uc004and.4_Missense_Mutation_p.P34L|HNRNPK_uc004anf.4_Missense_Mutation_p.P274L|HNRNPK_uc004anh.4_Missense_Mutation_p.P250L|HNRNPK_uc011lsx.2_Missense_Mutation_p.P250L|HNRNPK_uc004anl.4_Missense_Mutation_p.P274L|HNRNPK_uc004anm.4_Missense_Mutation_p.P274L|MIR7-1_uc004ano.1_5'Flank	NM_031262	NP_112552	P61978	HNRPK_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein K (HNRNPK), transcript variant 3, mRNA.	274	2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity).|Necessary for interaction with DDX1.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein binding|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						TCTAGATGGAGGCATGGGACG	0.597000														32			30		0	0	0.00327116	0	0
TBCK	93627	broad.mit.edu	37	4	107016744	107016744	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:107016744G>A	uc010ilv.2	-	24	2831	c.2466C>T	c.(2464-2466)ttC>ttT	p.F822F	TBCK_uc003hyb.2_Silent_p.F565F|TBCK_uc003hye.2_Silent_p.F783F|TBCK_uc003hyc.2_Silent_p.F759F|TBCK_uc003hyd.2_Silent_p.F650F|TBCK_uc003hyf.2_Silent_p.F822F	NM_001163435	NP_001156908	Q8TEA7	TBCK_HUMAN	Homo sapiens TBC1 domain containing kinase (TBCK), transcript variant 1, mRNA.	822	Rhodanese.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CTTCTGCAGTGAAGGCAGCAC	0.463000														16			20		0	0	0.00188189	0	0
SCN11A	11280	broad.mit.edu	37	3	38946740	38946740	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:38946740G>A	uc021wvy.1	-	10	1745	c.1546C>T	c.(1546-1548)Cct>Tct	p.P516S		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	516					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CTTTGGAGAGGATCTCCATGC	0.498000														93			46		0	0	0.00285205	0	0
PSMA6	5687	broad.mit.edu	37	14	35778136	35778136	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:35778136C>T	uc001wtd.3	+	2	297	c.188C>T	c.(187-189)tCc>tTc	p.S63F	KIAA0391_uc001wta.3_Non-coding_Transcript|PSMA6_uc010tpt.2_5'UTR|PSMA6_uc010tpu.2_5'UTR	NM_002791	NP_002782	P60900	PSA6_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 6 (PSMA6), mRNA.	63					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|RNA binding|purine ribonucleoside triphosphate binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		TTATTGGATTCCAGCACAGTG	0.274000														147			102		0	0	0.00361006	0	0
OTOF	9381	broad.mit.edu	37	2	26696884	26696884	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:26696884G>A	uc002rhk.3	-	26	3510	c.3383C>T	c.(3382-3384)cCc>cTc	p.P1128L	OTOF_uc010yla.2_5'Flank|OTOF_uc002rhh.3_Missense_Mutation_p.P381L|OTOF_uc002rhi.3_Missense_Mutation_p.P438L|OTOF_uc002rhj.3_Missense_Mutation_p.P381L	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1128					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGAGCACGGGCCGGATGCC	0.642000														27			22		0	0	0.000720815	0	0
OR56B1	387748	broad.mit.edu	37	11	5758199	5758199	+	Silent	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:5758199A>G	uc001mbt.2	+	0	522	c.453A>G	c.(451-453)ttA>ttG	p.L151L	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|OR56B1_uc001mbs.1_Silent_p.L151L|OR56B1_uc009yev.1_Silent_p.L151L	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		CCTTAATCTTAAAAGCTACCC	0.438000														32			8		0	0	0.000274275	0	0
CYP2C9	1559	broad.mit.edu	37	10	96698526	96698526	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:96698526C>T	uc001kka.4	+	0	112	c.87C>T	c.(85-87)ctC>ctT	p.L29L	CYP2C9_uc009xut.3_Silent_p.L29L|CYP2C9_uc001kjz.3_Silent_p.L29L	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	29					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GAGGAAAACTCCCTCCTGGCC	0.463000														28			8		0	0	0.00307968	0	0
HEATR8	374977	broad.mit.edu	37	1	55139713	55139713	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:55139713G>A	uc010ooe.1	+	9	2149	c.1825G>A	c.(1825-1827)Ggg>Agg	p.G609R	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Missense_Mutation_p.G177R|HEATR8_uc010ood.1_Missense_Mutation_p.G127R|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.G609R|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	609						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCCGGCGCTGGGGCTTCTGCT	0.493000														111			44		0	0	0.00361006	0	0
HLCS	3141	broad.mit.edu	37	21	38132083	38132083	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:38132083G>A	uc010gnb.3	-	9	3154	c.1740C>T	c.(1738-1740)atC>atT	p.I580I	HLCS_uc021wjb.1_Silent_p.I580I|HLCS_uc002yvs.3_Silent_p.I580I	NM_001242784	NP_001229713	P50747	BPL1_HUMAN	Homo sapiens holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) (HLCS), transcript variant 3, mRNA.	580					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GAACTCCGCCGATCTTCATGA	0.373000														64			26		0	0	0.00209593	0	0
KCNK10	54207	broad.mit.edu	37	14	88729891	88729891	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:88729891G>A	uc001xwm.3	-	1	179	c.57C>T	c.(55-57)gcC>gcT	p.A19A	KCNK10_uc001xwn.3_Silent_p.A19A|KCNK10_uc001xwo.3_Silent_p.A14A	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	14					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CTGCGGGAACGGCCACTGAGG	0.557000														29			23		0	0	0.00188189	0	0
SLC27A6	28965	broad.mit.edu	37	5	128320887	128320887	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:128320887G>A	uc003kuy.3	+	2	939	c.543G>A	c.(541-543)ggG>ggA	p.G181G	SLC27A6_uc003kuz.3_Silent_p.G181G	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	181					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GTGTTTGGGGGATGAAAGATT	0.453000														17			13		0	0	0.00244969	0	0
SLC25A16	8034	broad.mit.edu	37	10	70248341	70248341	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:70248341G>A	uc001joi.3	-	6	804	c.656C>T	c.(655-657)tCc>tTc	p.S219F	SLC25A16_uc010qiy.2_Missense_Mutation_p.S121F|SLC25A16_uc001joj.3_Missense_Mutation_p.S121F	NM_152707	NP_689920	P16260	GDC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16 (SLC25A16), nuclear gene encoding mitochondrial protein, mRNA.	219					coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						AGGAGCATGGGAAAGCCCAAC	0.378000														35			14		0	0	0.00400662	0	0
OSBPL7	114881	broad.mit.edu	37	17	45888181	45888181	+	Silent	SNP	G	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:45888181G>T	uc002ilx.1	-	16	1961	c.1758C>A	c.(1756-1758)atC>atA	p.I586I	OSBPL7_uc002ilw.1_Silent_p.I148I	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	Homo sapiens oxysterol binding protein-like 7 (OSBPL7), transcript variant 1, mRNA.	586					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						GGCAGGCCGAGATAGGGGGGT	0.602000														8			5		0.00116845	0.00263681	0.00116845	1	0
PI4KA	5297	broad.mit.edu	37	22	21096518	21096518	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:21096518G>A	uc002zsz.4	-	31	3826	c.3565C>T	c.(3565-3567)Ccg>Tcg	p.P1189S		NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	1189					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GGTCCTACCGGCACTTCCACT	0.627000											OREG0026324	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		108			66		0	0	0.00361006	0	0
CEACAM3	1084	broad.mit.edu	37	19	42301775	42301775	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:42301775C>T	uc002orn.1	+	1	395	c.319C>T	c.(319-321)Ctg>Ttg	p.L107L	CEACAM3_uc010eia.1_Silent_p.L107L|CEACAM3_uc002oro.1_Non-coding_Transcript	NM_001815	NP_001806	P40198	CEAM3_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 3 (CEACAM3), mRNA.	107	Ig-like V-type.					integral to membrane		p.R98_S106delRETIYTNAS(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						CAATGCATCCCTGCTGATCCA	0.453000														149			43		0	0	0.00170553	0	0
FGF4	2249	broad.mit.edu	37	11	69588793	69588793	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:69588793G>A	uc001opg.1	-	2	763	c.444_splice	c.e2+1	p.S148_splice	FGF4_uc010rqj.1_Intron	NM_002007	NP_001998	P08620	FGF4_HUMAN	Homo sapiens fibroblast growth factor 4 (FGF4), mRNA.	148					cell-cell signaling|chondroblast differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity|heparin binding			lung(3)	3	Melanoma(5;1.89e-05)		LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		Pentosan Polysulfate(DB00686)	GGTACTCACCGAGCCATAGAG	0.652000														21			4		0	0	0.000602214	0	0
NDN	4692	broad.mit.edu	37	15	23931540	23931540	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:23931540G>A	uc001ywk.3	-	0	911	c.825C>T	c.(823-825)atC>atT	p.I275I		NM_002487	NP_002478	Q99608	NECD_HUMAN	Homo sapiens necdin homolog (mouse) (NDN), mRNA.	275	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	p.I275I(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGAACTCCATGATTTGCATCT	0.582000									Prader-Willi syndrome					44			17		0	0	0.000566183	0	0
OR1D2	4991	broad.mit.edu	37	17	2995854	2995854	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:2995854G>A	uc010vrb.2	-	0	437	c.437C>T	c.(436-438)tCc>tTc	p.S146F		NM_002548	NP_002539	P34982	OR1D2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.	146					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						CCAACACAAGGAAAGGAGTAA	0.522000														17			14		0	0	0.00244969	0	0
ZNF558	148156	broad.mit.edu	37	19	8922239	8922239	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:8922239C>T	uc002mkn.1	-	5	1157	c.927G>A	c.(925-927)caG>caA	p.Q309Q	ZNF558_uc010xkh.1_Silent_p.Q238Q|ZNF558_uc010dwg.1_Silent_p.Q309Q	NM_144693	NP_653294	Q96NG5	ZN558_HUMAN	Homo sapiens zinc finger protein 558 (ZNF558), mRNA.	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						TTCTTACGTGCTGTGTCAGAT	0.438000														50			14		0	0	0.00185496	0	0
NYNRIN	57523	broad.mit.edu	37	14	24877315	24877316	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:24877315_24877316CC>TT	uc001wpf.4	+	2	757_758	c.439_440CC>TT	c.(439-441)cct>TTt	p.P147F		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	147					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GGGCCCTGCCCCTCTGCTGACC	0.678000														18			6		0	0	6.4e-05	0	0
CHD6	84181	broad.mit.edu	37	20	40081467	40081467	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:40081467G>A	uc002xka.1	-	20	3414	c.3236C>T	c.(3235-3237)cCc>cTc	p.P1079L		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	1079					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGATCTCGTGGGCCTTTCGTC	0.547000														76			33		0	0	0.00283554	0	0
COL6A6	131873	broad.mit.edu	37	3	130311917	130311917	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:130311917G>A	uc010htl.3	+	14	4415	c.4384G>A	c.(4384-4386)Gaa>Aaa	p.E1462K	COL6A6_uc003eni.4_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1462	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AGAAGTTGGGGAAAATGGAAT	0.368000														168			80		0	0	0.00361006	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52001296	52001296	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:52001296G>A	uc002pwx.1	-	4	1437	c.1381C>T	c.(1381-1383)Ctc>Ttc	p.L461F	SIGLEC12_uc002pww.1_Missense_Mutation_p.L343F|SIGLEC12_uc010eoy.1_Missense_Mutation_p.L188F	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	461	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGCAGGGAGAGGCTCAGGGAA	0.587000														21			16		0	0	0.000958276	0	0
ROBO1	6091	broad.mit.edu	37	3	78696802	78696802	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:78696802G>A	uc003dqe.2	-	19	3024	c.2816C>T	c.(2815-2817)cCg>cTg	p.P939L	ROBO1_uc003dqc.2_Intron|ROBO1_uc003dqd.2_Intron|ROBO1_uc003dqb.2_Missense_Mutation_p.P900L|ROBO1_uc010hoh.2_Missense_Mutation_p.P131L|ROBO1_uc011bgl.1_Missense_Mutation_p.P511L	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	939					Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GGTAAAAGACGGGACTGAAAA	0.343000														99			53		0	0	0.00361006	0	0
EXPH5	23086	broad.mit.edu	37	11	108409798	108409798	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:108409798C>T	uc001pkk.3	-	2	507	c.396G>A	c.(394-396)agG>agA	p.R132R	EXPH5_uc010rvz.2_5'Flank|EXPH5_uc010rvy.2_5'Flank	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	132					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTCCAGATTTCCTGAATGAGA	0.423000														46			36		0	0	0.00148497	0	0
MYOF	26509	broad.mit.edu	37	10	95134595	95134595	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:95134595C>T	uc001kin.3	-	22	2349	c.2226G>A	c.(2224-2226)tcG>tcA	p.S742S	MYOF_uc001kio.3_Silent_p.S729S|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	742					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTGTGGCTTCCGACCTCATCC	0.483000														36			12		0	0	0.00136819	0	0
DUSP27	92235	broad.mit.edu	37	1	167064132	167064132	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:167064132G>A	uc001geb.1	+	0	62	c.46G>A	c.(46-48)Gag>Aag	p.E16K		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	16					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGTCCCAAGCGAGGAGGACGA	0.572000														18			14		0	0	0.00074312	0	0
TDRD9	122402	broad.mit.edu	37	14	104491924	104491924	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:104491924G>A	uc001yom.4	+	25	2772	c.2742G>A	c.(2740-2742)tgG>tgA	p.W914*	TDRD9_uc001yon.4_Nonsense_Mutation_p.W652*	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	914					DNA methylation involved in gamete generation|cell differentiation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				GACACTTTTGGGGATACAGGA	0.438000														62			12		0	0	0.000978159	0	0
PCDH7	5099	broad.mit.edu	37	4	30724721	30724721	+	Silent	SNP	G	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:30724721G>T	uc003gsk.1	+	0	2685	c.1677G>T	c.(1675-1677)gcG>gcT	p.A559A	PCDH7_uc011bxx.2_Silent_p.A559A|PCDH7_uc021xnd.1_Silent_p.A559A|PCDH7_uc021xnc.1_Silent_p.A559A	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	559	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CGGTGCTGGCGACAGACGCAG	0.607000														15			22		6.33239e-15	1.44708e-14	0.00152264	1	0
CD86	942	broad.mit.edu	37	3	121828124	121828124	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:121828124C>T	uc003eet.3	+	4	844	c.716C>T	c.(715-717)cCt>cTt	p.P239L	CD86_uc011bjo.2_Missense_Mutation_p.P157L|CD86_uc011bjp.2_Missense_Mutation_p.P127L|CD86_uc003eeu.3_Missense_Mutation_p.P233L|CD86_uc021xcz.1_Intron	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	239					T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	CTTGAGGACCCTCAGCCTCCC	0.418000														44			17		0	0	0.00152264	0	0
CPZ	8532	broad.mit.edu	37	4	8620164	8620164	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:8620164G>A	uc003glm.3	+	9	1686	c.1512G>A	c.(1510-1512)cgG>cgA	p.R504R	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Silent_p.R493R|CPZ_uc003gln.3_Silent_p.R367R	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	504					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGGTGCACCGGGGCATCAAAG	0.592000														51			14		0	0	0.00074312	0	0
RGMB	285704	broad.mit.edu	37	5	98115297	98115297	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:98115297G>A	uc003knc.3	+	3	675	c.273G>A	c.(271-273)caG>caA	p.Q91Q	RGMB_uc003knb.2_Silent_p.Q91Q	NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN	Homo sapiens RGM domain family, member B (RGMB), mRNA.	50					BMP signaling pathway|axon guidance|cell adhesion|positive regulation of transcription, DNA-dependent	ER-Golgi intermediate compartment|anchored to plasma membrane|membrane raft	identical protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		ACTGCCAACAGCCAGCCCAAT	0.453000														190			30		0	0	0.00428921	0	0
PAMR1	25891	broad.mit.edu	37	11	35463052	35463052	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:35463052C>T	uc001mwf.3	-	7	1104	c.1061G>A	c.(1060-1062)gGg>gAg	p.G354E	PAMR1_uc001mwg.3_Missense_Mutation_p.G337E|PAMR1_uc010rew.2_Missense_Mutation_p.G226E|PAMR1_uc010rex.2_Missense_Mutation_p.G297E	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	337					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GGGCTGTTTCCCTGACCACTC	0.408000														85			22		0	0	0.00188189	0	0
ANKS4B	257629	broad.mit.edu	37	16	21245187	21245187	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:21245187G>A	uc010bwp.1	+	0	172	c.129G>A	c.(127-129)ggG>ggA	p.G43G		NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B), mRNA.	43										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CCTACCATGGGAACTTGGAAG	0.463000														77			47		0	0	0.00361006	0	0
C1orf101	257044	broad.mit.edu	37	1	244736006	244736006	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:244736006C>T	uc001iam.3	+	10	1941	c.1882C>T	c.(1882-1884)Cca>Tca	p.P628S	C1orf101_uc001iak.1_Missense_Mutation_p.P182S|C1orf101_uc001ial.3_Missense_Mutation_p.P628S|C1orf101_uc010pym.2_Missense_Mutation_p.P477S|C1orf101_uc010pyn.2_Missense_Mutation_p.P561S	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	Homo sapiens chromosome 1 open reading frame 101 (C1orf101), transcript variant 1, mRNA.	628						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ATCTTATGGCCCAAAAATATT	0.368000														34			37		0	0	0.00148497	0	0
PPP4R4	57718	broad.mit.edu	37	14	94712813	94712813	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:94712813C>T	uc001ycs.1	+	13	1702	c.1548C>T	c.(1546-1548)gtC>gtT	p.V516V		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	516						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TGCCACATGTCATATCAAGCG	0.408000														37			40		0	0	0.00170553	0	0
HADHA	3030	broad.mit.edu	37	2	26455137	26455137	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:26455137G>A	uc002rgy.3	-	5	594	c.464C>T	c.(463-465)tCa>tTa	p.S155L	HADHA_uc010yks.2_Missense_Mutation_p.S68L|HADHA_uc010ykt.1_Missense_Mutation_p.S68L	NM_000182	NP_000173	P40939	ECHA_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit (HADHA), nuclear gene encoding mitochondrial protein, mRNA.	155					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	GTATTGGCATGAAATGGCAAC	0.378000														22			21		0	0	0.00188189	0	0
ODZ2	57451	broad.mit.edu	37	5	167643915	167643915	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:167643915G>A	uc010jjd.3	+	21	4194	c.4194G>A	c.(4192-4194)atG>atA	p.M1398I	ODZ2_uc003lzr.4_Missense_Mutation_p.M1168I|ODZ2_uc003lzt.4_Missense_Mutation_p.M771I|ODZ2_uc010jje.3_Missense_Mutation_p.M662I	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		ATTCCAGCATGGATGTAGCCC	0.532000														45			36		0	0	0.00222228	0	0
LHCGR	3973	broad.mit.edu	37	2	48936151	48936151	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:48936151C>T	uc002rwu.4	-	7	686	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	STON1-GTF2A1L_uc021vhf.1_Intron|LHCGR_uc002rwv.2_Non-coding_Transcript	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	206					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	p.E206K(2)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TGTACGTTTTCCTTTAGCTCC	0.507000														58			13		0	0	0.00244969	0	0
SERPINA5	5104	broad.mit.edu	37	14	95054004	95054004	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:95054004G>A	uc001ydm.2	+	2	515	c.305G>A	c.(304-306)aGc>aAc	p.S102N	SERPINA5_uc010ave.2_Missense_Mutation_p.S102N|SERPINA5_uc001ydn.1_Missense_Mutation_p.S102N	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	102					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CTCCAGAAAAGCTCAGAGAAG	0.592000														23			4		0	0	0.00024832	0	0
SRD5A1	6715	broad.mit.edu	37	5	6652030	6652030	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:6652030C>T	uc003jdw.3	+	1	559	c.369C>T	c.(367-369)ttC>ttT	p.F123F	SRD5A1_uc011cml.2_Non-coding_Transcript|SRD5A1_uc011cmm.2_Intron	NM_001047	NP_001038	P18405	S5A1_HUMAN	Homo sapiens steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) (SRD5A1), mRNA.	123					androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)	CGATTATGTTCTGTACCTGTA	0.448000														63			15		0	0	0.00074312	0	0
PNPLA8	50640	broad.mit.edu	37	7	108154646	108154646	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:108154646A>T	uc003vff.1	-	4	1555	c.1148T>A	c.(1147-1149)gTt>gAt	p.V383D	PNPLA8_uc003vfi.1_Missense_Mutation_p.V283D|PNPLA8_uc003vfh.1_Missense_Mutation_p.V383D|PNPLA8_uc003vfj.1_Missense_Mutation_p.V383D|PNPLA8_uc003vfk.1_Missense_Mutation_p.V283D	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN	Homo sapiens patatin-like phospholipase domain containing 8 (PNPLA8), transcript variant 1, mRNA.	383					fatty acid metabolic process|lipid catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						CAGTTCTTCAACCCTAGTAAT	0.378000														233			138		0	0	0.00361006	0	0
ABCA12	26154	broad.mit.edu	37	2	215815627	215815627	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:215815627G>C	uc002vew.3	-	44	7048	c.6828C>G	c.(6826-6828)atC>atG	p.I2276M	ABCA12_uc002vev.3_Missense_Mutation_p.I1958M|ABCA12_uc010zjn.2_Missense_Mutation_p.I1203M	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	2276	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCCCAATGCTGATGTTGTTTA	0.368000														35			21		0	0	0.00229938	0	0
PDE8B	8622	broad.mit.edu	37	5	76721606	76721606	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:76721606G>A	uc003kfa.3	+	20	2478	c.2433G>A	c.(2431-2433)aaG>aaA	p.K811K	PDE8B_uc003kfd.3_Silent_p.K764K|PDE8B_uc003kfe.3_Silent_p.K714K|PDE8B_uc003kfb.3_Silent_p.K791K|PDE8B_uc003kfc.3_Silent_p.K756K	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	811	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		ATGAAGAGAAGAGACAGGGAC	0.448000														194			16		0	0	0.00400662	0	0
IGSF10	285313	broad.mit.edu	37	3	151164367	151164367	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:151164367G>A	uc011bod.2	-	3	3402	c.3402C>T	c.(3400-3402)tcC>tcT	p.S1134S		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1134					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAGTCACTTGGGAAATTTCAG	0.413000														123			60		0	0	0.00361006	0	0
BTBD9	114781	broad.mit.edu	37	6	38565854	38565854	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:38565854G>A	uc003ooa.4	-	2	593	c.17C>T	c.(16-18)cCt>cTt	p.P6L	BTBD9_uc010jwv.3_5'Flank|BTBD9_uc003ony.4_5'Flank|BTBD9_uc010jww.3_5'Flank|BTBD9_uc010jwx.3_Missense_Mutation_p.P6L	NM_052893	NP_689946	Q96Q07	BTBD9_HUMAN	Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA.	6					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						GGGGCGAAGAGGGTGGCTGTT	0.438000														62			17		0	0	0.000958276	0	0
KAT6B	23522	broad.mit.edu	37	10	76719728	76719728	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:76719728C>T	uc001jwn.1	+	4	1115	c.622_splice	c.e4-1	p.P208_splice	KAT6B_uc001jwm.1_Splice_Site_p.P208_splice|KAT6B_uc001jwo.1_Splice_Site_p.P208_splice|KAT6B_uc001jwp.1_Splice_Site_p.P208_splice	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	208					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										TTTGTCATAGCCCCGTGCTGA	0.333000														70			21		0	0	0.00395357	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673402	141673402	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:141673402A>T	uc003vwx.1	-	0	172	c.88T>A	c.(88-90)Ttt>Att	p.F30I		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	30					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TTGGTCAGAAACCCCACTGCA	0.468000														44			20		0	0	0.00121646	0	0
HSF2	3298	broad.mit.edu	37	6	122733790	122733790	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:122733790C>T	uc003pyu.2	+	2	398	c.211C>T	c.(211-213)Cgt>Tgt	p.R71C	HSF2_uc003pyt.4_Missense_Mutation_p.R71C|HSF2_uc003pyv.2_Missense_Mutation_p.R71C	NM_004506	NP_004497	Q03933	HSF2_HUMAN	Homo sapiens heat shock transcription factor 2 (HSF2), transcript variant 1, mRNA.	71					response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		AGATGGTTTCCGTAAAGTAGT	0.343000														27			12		0	0	0.00136819	0	0
MIA2	117153	broad.mit.edu	37	14	39716536	39716537	+	Missense_Mutation	DNP	GT	AG	AG	rs144276859		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:39716536_39716537GT>AG	uc001wux.3	+	3	952_953	c.758_759GT>AG	c.(757-759)agt>aAG	p.S253K	MIA2_uc010amy.2_Missense_Mutation_p.S184K	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	253						extracellular region		p.R252W(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TCATTTCGGAGTAGAAAAATAG	0.391000														39			6		0	0	6.4e-05	0	0
TMEM205	374882	broad.mit.edu	37	19	11453514	11453514	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:11453514C>T	uc002mra.2	-	3	854	c.547G>A	c.(547-549)Gcc>Acc	p.A183T	TMEM205_uc002mrb.2_Missense_Mutation_p.A183T|TMEM205_uc002mqz.2_Missense_Mutation_p.A183T	NM_033408	NP_940938	Q6UW68	TM205_HUMAN	Homo sapiens transmembrane protein 205 (TMEM205), transcript variant 2, mRNA.	183						integral to membrane				endometrium(1)|lung(1)	2						ATTTCCAGGGCAAGGCCAGCG	0.527000														130			22		0	0	0.00395357	0	0
UNC13C	440279	broad.mit.edu	37	15	54860035	54860035	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:54860035A>G	uc021smr.1	+	27	5990	c.5990A>G	c.(5989-5991)aAt>aGt	p.N1997S	UNC13C_uc021sms.1_Missense_Mutation_p.N1999S	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1999	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGAAAAAGAATTTCTTGGAG	0.353000														6			4		0	0	0.000602214	0	0
ITIH6	347365	broad.mit.edu	37	X	54783974	54783974	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:54783974G>A	uc004dtj.2	-	7	2563	c.2533C>T	c.(2533-2535)Ctc>Ttc	p.L845F		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	845	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										TTGGACAAGAGGATTCCAGGC	0.498000														17			31		0	0	0.00209593	0	0
MAP3K11	4296	broad.mit.edu	37	11	65380868	65380868	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:65380868C>T	uc001oew.3	-	0	853	c.360G>A	c.(358-360)gaG>gaA	p.E120E	MAP3K11_uc010rol.2_5'Flank|PCNXL3_uc001oey.2_5'Flank	NM_002419	NP_002410	Q16584	M3K11_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 11 (MAP3K11), mRNA.	120	Gly-rich.|Protein kinase.				G1 phase of mitotic cell cycle|activation of JUN kinase activity|cell proliferation|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						CGATCACCTCCTCCAGCCGCA	0.667000														37			12		0	0	0.00136819	0	0
E2F7	144455	broad.mit.edu	37	12	77449688	77449688	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:77449688C>A	uc001sym.4	-	2	552	c.316G>T	c.(316-318)Gga>Tga	p.G106*		NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	Homo sapiens E2F transcription factor 7 (E2F7), mRNA.	106					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CGGAATAGTCCCTTTTTCTTC	0.448000														34			27		7.01153e-11	1.59579e-10	0.00127121	1	0
PSG9	5678	broad.mit.edu	37	19	43773535	43773535	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:43773535C>T	uc002owd.4	-	0	148	c.49G>A	c.(49-51)Ggg>Agg	p.G17R	PSG9_uc002owe.4_Missense_Mutation_p.G17R|PSG9_uc010xwm.2_Missense_Mutation_p.G17R|PSG9_uc002owf.4_Missense_Mutation_p.G17R|PSG9_uc002owg.2_Missense_Mutation_p.G17R	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	17					female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AGCAGGAGCCCCTTCCAGGTG	0.607000														64			34		0	0	0.00285205	0	0
COL6A3	1293	broad.mit.edu	37	2	238263553	238263553	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:238263553G>A	uc002vwl.2	-	23	6901	c.6616C>T	c.(6616-6618)Ccc>Tcc	p.P2206S	COL6A3_uc002vwo.2_Missense_Mutation_p.P2000S|COL6A3_uc010znj.1_Missense_Mutation_p.P1599S|COL6A3_uc002vwp.1_Missense_Mutation_p.P27S	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2206	Collagen-like 3.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.P2206P(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTAGCTCCGGGGGGTCCCCTT	0.592000														20			4		0	0	0.00116845	0	0
DNAH5	1767	broad.mit.edu	37	5	13794053	13794053	+	Missense_Mutation	SNP	C	T	T	rs147236883	byFrequency	TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:13794053C>T	uc003jfd.2	-	47	8044	c.8002G>A	c.(8002-8004)Gga>Aga	p.G2668R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2668	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACCTGATCTCCCCACTCATTG	0.308000									Kartagener syndrome					14			8		0	0	0.000274275	0	0
AMPD1	270	broad.mit.edu	37	1	115219982	115219982	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:115219982G>A	uc001efe.2	-	9	1525	c.1477C>T	c.(1477-1479)Ccc>Tcc	p.P493S	AMPD1_uc001eff.2_Missense_Mutation_p.P489S	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	460					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TAGATCCTGGGAACCTGGATC	0.522000														47			29		0	0	0.00209593	0	0
SPATC1	375686	broad.mit.edu	37	8	145095815	145095815	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:145095815C>T	uc011lkw.2	+	2	1215	c.1113C>T	c.(1111-1113)tcC>tcT	p.S371S	SPATC1_uc011lkx.2_Silent_p.S371S	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	371										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCATAATTCCCCAACCCAGA	0.642000														23			13		0	0	0.00244969	0	0
BFSP1	631	broad.mit.edu	37	20	17475601	17475601	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:17475601C>T	uc002wpo.3	-	7	1155	c.1116G>A	c.(1114-1116)agG>agA	p.R372R	BFSP1_uc002wpp.3_Silent_p.R247R|BFSP1_uc010zrn.2_Silent_p.R233R|BFSP1_uc010zro.2_Silent_p.R233R	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	Homo sapiens beaded filament structural protein 1, filensin (BFSP1), transcript variant 1, mRNA.	372	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TCTCTTTTCTCCTTGGAACAT	0.418000														131			70		0	0	0.00361006	0	0
OR51B6	390058	broad.mit.edu	37	11	5373580	5373580	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:5373580C>T	uc010qzb.2	+	0	843	c.843C>T	c.(841-843)ttC>ttT	p.F281F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F281F(2)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTTCCTTTTCCCACCTTTTA	0.383000														42			20		0	0	0.000958276	0	0
FBXO42	54455	broad.mit.edu	37	1	16632330	16632330	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:16632330G>A	uc001ayg.3	-	2	551	c.335C>T	c.(334-336)cCt>cTt	p.P112L	FBXO42_uc001ayf.3_Missense_Mutation_p.P19L|FBXO42_uc001ayh.3_Missense_Mutation_p.P112L	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN	Homo sapiens F-box protein 42 (FBXO42), mRNA.	112										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TGGGGTTCCAGGATAAGGATA	0.473000														71			5		0	0	0.00116845	0	0
TNFSF15	9966	broad.mit.edu	37	9	117553092	117553092	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:117553092C>T	uc004bjh.3	-	3	512	c.396G>A	c.(394-396)atG>atA	p.M132I	TNFSF15_uc004bjg.3_Missense_Mutation_p.M73I	NM_005118	NP_005109	O95150	TNF15_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 15 (TNFSF15), transcript variant 1, mRNA.	132					activation of NF-kappaB-inducing kinase activity|activation of caspase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						TGGTATAGTTCATTCGGTTCT	0.478000														23			21		0	0	0.00188189	0	0
CHD4	1108	broad.mit.edu	37	12	6692249	6692249	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:6692249G>A	uc001qpo.3	-	26	4255	c.4091C>T	c.(4090-4092)tCc>tTc	p.S1364F	CHD4_uc001qpn.3_Missense_Mutation_p.S1357F|CHD4_uc001qpp.3_Missense_Mutation_p.S1389F|AK096395_uc001qpq.1_3'UTR|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	1364					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TGAGTAATCGGACTGGTTGTC	0.547000														71			22		0	0	0.00229938	0	0
MKNK2	2872	broad.mit.edu	37	19	2043508	2043509	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:2043508_2043509CC>TT	uc002lus.2	-	5	657_658	c.412_413GG>AA	c.(412-414)gga>AAa	p.G138K	MKNK2_uc002luq.1_5'Flank|MKNK2_uc010xgu.1_5'UTR|MKNK2_uc010xgv.1_Missense_Mutation_p.G7K|MKNK2_uc002lur.2_Missense_Mutation_p.G138K|MKNK2_uc002lut.1_5'Flank	NM_199054	NP_951009	Q9HBH9	MKNK2_HUMAN	Homo sapiens MAP kinase interacting serine/threonine kinase 2 (MKNK2), transcript variant 2, mRNA.	138	Protein kinase.				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTACCTGTGTCCCTGGCACTGG	0.579000														23			16		0	0	6.4e-05	0	0
SCNN1G	6340	broad.mit.edu	37	16	23224185	23224185	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:23224185C>T	uc002dlm.1	+	9	1540	c.1401C>T	c.(1399-1401)agC>agT	p.S467S		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	467					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TAACCACAAGCCTGGCACAAT	0.577000														35			27		0	0	0.000720815	0	0
ZNF264	9422	broad.mit.edu	37	19	57723539	57723539	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:57723539C>T	uc002qob.3	+	3	1488	c.1074C>T	c.(1072-1074)ctC>ctT	p.L358L		NM_003417	NP_003408	O43296	ZN264_HUMAN	Homo sapiens zinc finger protein 264 (ZNF264), mRNA.	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L358L(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		GGTCATATCTCATGTGGCACC	0.517000														50			12		0	0	0.00136819	0	0
IQGAP3	128239	broad.mit.edu	37	1	156498311	156498311	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:156498311G>A	uc001fpf.3	-	35	4738	c.4663C>T	c.(4663-4665)Ccc>Tcc	p.P1555S		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	1555					small GTPase mediated signal transduction	intracellular	Ras GTPase activator activity|calmodulin binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGAGAGGCGGGAAGATCTTCA	0.542000														85			15		0	0	0.00316338	0	0
DAB1	1600	broad.mit.edu	37	1	57480751	57480751	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:57480751C>T	uc009vzx.1	-	11	1569	c.1249G>A	c.(1249-1251)Gat>Aat	p.D417N	DAB1_uc001cyt.1_Missense_Mutation_p.D415N|DAB1_uc001cyq.1_Missense_Mutation_p.D415N|DAB1_uc001cyr.1_Missense_Mutation_p.D331N|DAB1_uc009vzw.1_Missense_Mutation_p.D399N|DAB1_uc001cys.1_Missense_Mutation_p.D417N	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	450					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						ATCTGGAAATCCTTAAACGTT	0.592000														51			20		0	0	0.00121646	0	0
DOCK3	1795	broad.mit.edu	37	3	51352490	51352490	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:51352490G>A	uc011bds.2	+	31	3356	c.3333G>A	c.(3331-3333)cgG>cgA	p.R1111R		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1111						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAGAAGTACGGAATATCATGA	0.438000														28			7		0	0	0.00307968	0	0
SLC47A2	146802	broad.mit.edu	37	17	19584970	19584970	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:19584970C>T	uc002gwe.4	-	13	1461	c.1286G>A	c.(1285-1287)gGa>gAa	p.G429E	SLC47A2_uc002gwg.4_Missense_Mutation_p.G393E|SLC47A2_uc002gwf.4_Missense_Mutation_p.G407E|SLC47A2_uc002gwh.4_Non-coding_Transcript|SLC47A2_uc002gwi.3_Non-coding_Transcript|SLC47A2_uc010cqs.1_Non-coding_Transcript	NM_152908	NP_690872	Q86VL8	S47A2_HUMAN	Homo sapiens solute carrier family 47, member 2 (SLC47A2), transcript variant 1, mRNA.	429			G -> R (in dbSNP:rs34399035).			integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					TCTCAGAACTCCGCCATAGAC	0.527000														12			17		0	0	0.00152264	0	0
MEGF10	84466	broad.mit.edu	37	5	126790295	126790295	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:126790295C>T	uc003kuh.4	+	23	3380	c.3018C>T	c.(3016-3018)tcC>tcT	p.S1006S	MEGF10_uc003kui.4_Silent_p.S1006S	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	1006	Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGGGAAAATCCTTAAAAGGTA	0.323000														18			21		0	0	0.00395357	0	0
PPEF2	5470	broad.mit.edu	37	4	76797736	76797736	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:76797736C>T	uc003hix.3	-	10	1381	c.1024G>A	c.(1024-1026)Gga>Aga	p.G342R	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.G342R	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	342	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGGATGGGTCCCTGTGCAGAG	0.542000														19			18		0	0	0.000958276	0	0
GALNT13	114805	broad.mit.edu	37	2	154996921	154996921	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:154996921G>A	uc002tyt.4	+	1	318	c.214G>A	c.(214-216)Gag>Aag	p.E72K	GALNT13_uc002tyr.4_Missense_Mutation_p.E72K|GALNT13_uc010foc.1_5'UTR	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	72						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AGATGACCAGGAGAAAATGAA	0.383000														35			12		0	0	0.000978159	0	0
NDFIP1	80762	broad.mit.edu	37	5	141520143	141520143	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:141520143C>T	uc003lmi.4	+	5	727	c.511C>T	c.(511-513)Cct>Tct	p.P171S	NDFIP1_uc003lmj.1_Intron	NM_030571	NP_085048	Q9BT67	NFIP1_HUMAN	Homo sapiens Nedd4 family interacting protein 1 (NDFIP1), mRNA.	171					cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	Golgi membrane|endosome membrane|extracellular region|integral to membrane|perinuclear region of cytoplasm	signal transducer activity			large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCTATTTCCCTGGATATTT	0.323000														72			53		0	0	0.00361006	0	0
OLFM2	93145	broad.mit.edu	37	19	9967558	9967558	+	Silent	SNP	G	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:9967558G>C	uc002mmp.3	-	4	640	c.612C>G	c.(610-612)ccC>ccG	p.P204P		NM_058164	NP_477512	O95897	NOE2_HUMAN	Homo sapiens olfactomedin 2 (OLFM2), mRNA.	204	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GAACGGTGATGGGGTTACTGA	0.637000														9			4		0	0	0.00116845	0	0
CHD3	1107	broad.mit.edu	37	17	7808467	7808467	+	Silent	SNP	C	T	T	rs146189491		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:7808467C>T	uc002gjd.2	+	25	4301	c.4299C>T	c.(4297-4299)ttC>ttT	p.F1433F	CHD3_uc002gje.2_Silent_p.F1374F|CHD3_uc002gjf.2_Silent_p.F1374F|CHD3_uc002gjh.2_5'UTR|SCARNA21_uc002gji.1_5'Flank	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	1374					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ATGAAGACTTCGATGAACGTC	0.512000														26			32		0	0	0.00283554	0	0
C1orf110	339512	broad.mit.edu	37	1	162824779	162824779	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:162824779T>C	uc001gck.2	-	3	860	c.685A>G	c.(685-687)Aaa>Gaa	p.K229E	C1orf110_uc009wuw.1_Intron|C1orf110_uc009wux.1_Missense_Mutation_p.K228E	NM_178550	NP_848645	Q86UF4	CA110_HUMAN	Homo sapiens chromosome 1 open reading frame 110 (C1orf110), mRNA.	229										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						TCCATGTGTTTTGGGGGAATT	0.473000														30			45		0	0	0.00222228	0	0
PTPN14	5784	broad.mit.edu	37	1	214576224	214576224	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:214576224A>G	uc001hkk.2	-	6	1234	c.581_splice	c.e6+1	p.S194_splice	PTPN14_uc021piy.1_Splice_Site|PTPN14_uc010pty.2_Splice_Site_p.S95_splice	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	194	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGCCTGCCTTACCTGTGGGCT	0.537000														88			97		0	0	0.00361006	0	0
MDN1	23195	broad.mit.edu	37	6	90402813	90402813	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:90402813C>T	uc003pnn.1	-	62	10052	c.9936G>A	c.(9934-9936)aaG>aaA	p.K3312K		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	3312					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGGCCTGTTTCTTCAACAGGT	0.512000														45			12		0	0	0.00244969	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92981677	92981677	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:92981677C>T	uc002bra.3	+	3	540	c.385C>T	c.(385-387)Cga>Tga	p.R129*	ST8SIA2_uc002brb.3_Nonsense_Mutation_p.R108*	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (ST8SIA2), mRNA.	129					N-glycan processing|axon guidance|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.D128N(1)		endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CATCTTCGATCGAGACAGCAC	0.468000														117			69		0	0	0.00361006	0	0
TBX15	6913	broad.mit.edu	37	1	119428085	119428085	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:119428085G>A	uc001ehl.1	-	7	1076	c.761C>T	c.(760-762)tCg>tTg	p.S254L	TBX15_uc009whj.1_Missense_Mutation_p.S78L	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	360						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		AGAAGAAGCCGAAGGGGATGG	0.478000														11			4		0	0	0.00024832	0	0
TRPC6	7225	broad.mit.edu	37	11	101374855	101374855	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:101374855C>A	uc001pgk.4	-	1	1270	c.845G>T	c.(844-846)aGt>aTt	p.S282I	TRPC6_uc009ywy.3_Missense_Mutation_p.S282I|TRPC6_uc009ywz.1_Missense_Mutation_p.S282I	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	282					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GTAAGCCGGACTTGCCAGGCC	0.438000														51			36		1.07121e-22	2.45902e-22	0.00148497	1	0
SLC1A7	6512	broad.mit.edu	37	1	53558404	53558404	+	Missense_Mutation	SNP	C	T	T	rs139648137		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:53558404C>T	uc021onn.1	-	6	1021	c.853G>A	c.(853-855)Gac>Aac	p.D285N	SLC1A7_uc021onm.1_Missense_Mutation_p.D213N|SLC1A7_uc001cux.3_5'Flank|SLC1A7_uc001cuy.3_Missense_Mutation_p.D285N|SLC1A7_uc021ono.1_Non-coding_Transcript	NM_006671	NP_006662	O00341	EAA5_HUMAN	Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	285						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	GCCCTGGGGTCGTCCATCTCC	0.622000														66			35		0	0	0.00148497	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516606	140516606	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140516606G>A	uc003liq.3	+	0	1807	c.1590G>A	c.(1588-1590)gtG>gtA	p.V530V		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	530	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.R529R(2)|p.R529H(1)|p.R529C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTTCCGCGTGGGAGCCACAG	0.687000														25			22		0	0	0.00229938	0	0
DENND2C	163259	broad.mit.edu	37	1	115142866	115142866	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:115142866G>A	uc001efd.1	-	14	2766	c.2064C>T	c.(2062-2064)ctC>ctT	p.L688L	DENND2C_uc001eez.3_Intron|DENND2C_uc001efc.1_Silent_p.L631L	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	688	DENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTCCAAAAGGAGAGAGGCAC	0.403000														30			18		0	0	0.000566183	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762386	130762386	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:130762386G>A	uc003qcb.3	+	1	3197	c.819G>A	c.(817-819)aaG>aaA	p.K273K	TMEM200A_uc003qca.3_Silent_p.K273K|TMEM200A_uc010kfh.3_Silent_p.K273K|TMEM200A_uc010kfi.3_Silent_p.K273K|TMEM200A_uc021zfg.1_Silent_p.K273K	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	273						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GCGGCTCTAAGAAATGTGAAA	0.438000														69			38		0	0	0.00195071	0	0
MIOX	55586	broad.mit.edu	37	22	50927489	50927489	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:50927489C>T	uc003bll.1	+	5	543	c.429C>T	c.(427-429)acC>acT	p.T143T	MIOX_uc003blm.1_Silent_p.T143T|MIOX_uc003bln.1_Missense_Mutation_p.P154L	NM_017584	NP_060054	Q9UGB7	MIOX_HUMAN	Homo sapiens myo-inositol oxygenase (MIOX), mRNA.	143					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|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)		TCGGCGACACCTTCCCCGTCG	0.657000														11			10		0	0	0.00136819	0	0
BCAS1	8537	broad.mit.edu	37	20	52611550	52611550	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:52611550C>T	uc002xws.2	-	6	1265	c.927_splice	c.e6+1	p.T309_splice	BCAS1_uc010zza.1_Splice_Site_p.T22_splice|BCAS1_uc010zzb.1_Splice_Site_p.T212_splice|BCAS1_uc010gim.2_Splice_Site_p.T212_splice|BCAS1_uc002xwt.2_Splice_Site_p.T309_splice|BCAS1_uc010gil.1_Splice_Site_p.T309_splice	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	309						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CAACTACCTACCGTGTCTTCT	0.348000														202			7		0	0	0.000442599	0	0
PUS7L	83448	broad.mit.edu	37	12	44148979	44148979	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:44148979G>A	uc001rns.4	-	1	150	c.70C>T	c.(70-72)Cat>Tat	p.H24Y	PUS7L_uc001rnq.4_Missense_Mutation_p.H24Y|PUS7L_uc001rnr.4_Missense_Mutation_p.H24Y|PUS7L_uc009zkb.3_Intron	NM_031292	NP_112582	Q9H0K6	PUS7L_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae)-like (PUS7L), transcript variant 3, mRNA.	24					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		ATAGTGCCATGAAATCCAACG	0.328000														24			19		0	0	0.00074312	0	0
CDC45	8318	broad.mit.edu	37	22	19504097	19504097	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:19504097C>T	uc011aha.2	+	16	1662	c.1584C>T	c.(1582-1584)ccC>ccT	p.P528P	CDC45_uc002zpr.3_Silent_p.P496P|CDC45_uc002zpt.3_Silent_p.P450P	NM_001178010	NP_001171481	O75419	CDC45_HUMAN	Homo sapiens cell division cycle 45 homolog (S. cerevisiae) (CDC45), transcript variant 1, mRNA.	496					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						TGGCTGCCCCCCTGAGCATGG	0.627000														25			27		0	0	0.00127121	0	0
CASKIN2	57513	broad.mit.edu	37	17	73500746	73500746	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:73500746C>T	uc002joc.3	-	11	1771	c.1221G>A	c.(1219-1221)gaG>gaA	p.E407E	CASKIN2_uc010wsc.2_Silent_p.E325E	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.	407						cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCACGCTGCCCTCACTGCCCA	0.637000														3			6		0	0	0.00116845	0	0
ACSS3	79611	broad.mit.edu	37	12	81627128	81627128	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:81627128G>A	uc001szl.1	+	13	1688	c.1597_splice	c.e13-1	p.G533_splice	ACSS3_uc001szm.1_Splice_Site_p.G532_splice|ACSS3_uc001szn.1_Splice_Site_p.G215_splice	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	533						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TTGTTTTCAGGGATATTATGA	0.313000														7			3		0	0	6.4e-05	0	0
ANLN	54443	broad.mit.edu	37	7	36478869	36478869	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:36478869G>A	uc003tff.3	+	20	3144	c.2940G>A	c.(2938-2940)gtG>gtA	p.V980V	ANLN_uc011kaz.2_Silent_p.V892V|ANLN_uc003tfg.3_Silent_p.V943V|ANLN_uc010kxe.3_Silent_p.V942V	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	980	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						aatGTCAAGTGAATTCCAGTG	0.313000														30			16		0	0	0.00316338	0	0
GZMA	3001	broad.mit.edu	37	5	54403633	54403633	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:54403633C>T	uc003jpm.3	+	2	264	c.227C>T	c.(226-228)tCc>tTc	p.S76F		NM_006144	NP_006135	P12544	GRAA_HUMAN	Homo sapiens granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) (GZMA), mRNA.	76	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				AACAAAAGGTCCCAGGTCATT	0.403000														23			13		0	0	0.00316338	0	0
AGXT2	64902	broad.mit.edu	37	5	34998865	34998865	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:34998865G>A	uc003jjf.3	-	13	1747	c.1504C>T	c.(1504-1506)Cgt>Tgt	p.R502C	AGXT2_uc003jje.1_Missense_Mutation_p.R155C|AGXT2_uc011com.2_Missense_Mutation_p.R427C	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA.	502					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	p.R502H(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	AAGGCAGAACGAAATACTTCT	0.378000														41			7		0	0	0.00198382	0	0
GNAZ	2781	broad.mit.edu	37	22	23438263	23438263	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:23438263C>T	uc002zwu.1	+	1	918	c.381C>T	c.(379-381)gtC>gtT	p.V127V	RTDR1_uc002zwt.3_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha z polypeptide (GNAZ), mRNA.	127						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TGCTGGGTGTCATGCGACGGC	0.667000														43			26		0	0	0.000720815	0	0
SYNE2	23224	broad.mit.edu	37	14	64628973	64628973	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:64628973C>T	uc001xgl.3	+	87	16508	c.16278C>T	c.(16276-16278)ccC>ccT	p.P5426P	SYNE2_uc001xgm.3_Silent_p.P5426P|SYNE2_uc010apy.3_Silent_p.P1811P|SYNE2_uc001xgn.3_Silent_p.P388P|SYNE2_uc021rui.1_Silent_p.P388P|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc001xgp.3_Silent_p.P155P|SYNE2_uc010aqa.3_5'UTR	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	5426					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGATCCTGCCCCCAGCCCTGC	0.547000														40			33		0	0	0.00128727	0	0
ATP2A1	487	broad.mit.edu	37	16	28898961	28898962	+	Missense_Mutation	DNP	CG	AA	AA	rs147215405	by1000genomes	TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:28898961_28898962CG>AA	uc002dro.1	+	7	1030_1031	c.846_847CG>AA	c.(844-849)cccgtc>ccAAtc	p.V283I	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.V283I|ATP2A1_uc002drp.1_Missense_Mutation_p.V158I|ATP2A1_uc010bym.1_5'Flank	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	283					ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TCAACGACCCCGTCCATGGGGG	0.554000														110			6		0	0	6.4e-05	0	0
NCAN	1463	broad.mit.edu	37	19	19334892	19334892	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:19334892G>A	uc002nlz.3	+	3	637	c.538G>A	c.(538-540)Gag>Aag	p.E180K	NCAN_uc010ecc.1_5'Flank	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	180	Link 1.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			TGAGGCCCAGGAGGCCTGCCG	0.592000														55			16		0	0	0.000566183	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629301	9629301	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:9629301G>A	uc003jem.1	-	0	1163	c.844C>T	c.(844-846)Cct>Tct	p.P282S		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA.	282					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						TTCAATTTAGGATTTCCTAAA	0.363000														41			24		0	0	0.00395357	0	0
LCE3C	353144	broad.mit.edu	37	1	152573212	152573212	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:152573212C>T	uc001fac.2	+	0	75	c.5C>T	c.(4-6)tCc>tTc	p.S2F		NM_178434	NP_848521	Q5T5A8	LCE3C_HUMAN	Homo sapiens late cornified envelope 3C (LCE3C), mRNA.	2					keratinization					lung(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		GCAAAGATGTCCTGCCAGCAA	0.502000														142			8		0	0	0.00307968	0	0
OR4N4	283694	broad.mit.edu	37	15	22382955	22382955	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:22382955C>T	uc001yuc.1	+	6	1464	c.483C>T	c.(481-483)gtC>gtT	p.V161V	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Silent_p.V161V	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCCAGGTGGTCCTCATCCTCC	0.527000														37			19		0	0	0.00229938	0	0
PARD3	56288	broad.mit.edu	37	10	34606153	34606153	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:34606153C>T	uc010qej.2	-	19	3286	c.2956G>A	c.(2956-2958)Gat>Aat	p.D986N	PARD3_uc010qep.2_Missense_Mutation_p.D896N|PARD3_uc010qeq.2_Missense_Mutation_p.D911N|PARD3_uc010qek.2_Missense_Mutation_p.D983N|PARD3_uc010qel.2_Missense_Mutation_p.D986N|PARD3_uc010qem.2_Missense_Mutation_p.D970N|PARD3_uc010qen.2_Missense_Mutation_p.D940N|PARD3_uc010qeo.2_Missense_Mutation_p.D940N|PARD3_uc001ixo.2_Missense_Mutation_p.D699N|PARD3_uc001ixr.2_Missense_Mutation_p.D983N|PARD3_uc001ixq.2_Missense_Mutation_p.D940N|PARD3_uc001ixp.2_Missense_Mutation_p.D952N|PARD3_uc001ixt.1_Missense_Mutation_p.D804N|PARD3_uc001ixu.2_Missense_Mutation_p.D928N|PARD3_uc001ixs.1_Missense_Mutation_p.D609N	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	986	Lys-rich.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				tcagtcttatcacctttctct	0.403000														44			13		0	0	0.00185496	0	0
GRM6	2916	broad.mit.edu	37	5	178413358	178413358	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:178413358G>A	uc003mjr.3	-	7	2076	c.1897C>T	c.(1897-1899)Ctc>Ttc	p.L633F	GRM6_uc003mjq.3_5'Flank|GRM6_uc010jla.1_Missense_Mutation_p.L216F|GRM6_uc003mjs.1_Missense_Mutation_p.L253F	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	633					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GCGTAGATGAGGAAGATGCCG	0.662000														24			15		0	0	0.00316338	0	0
CACNA1I	8911	broad.mit.edu	37	22	39966960	39966960	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:39966960C>T	uc003ayc.3	+	0	203	c.203C>T	c.(202-204)cCc>cTc	p.P68L	CACNA1I_uc003ayd.3_Missense_Mutation_p.P68L	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	68					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	ACCACCAGCCCCCGGAACTGG	0.642000														62			36		0	0	0.00128727	0	0
CPN2	1370	broad.mit.edu	37	3	194062171	194062171	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:194062171G>A	uc003fts.3	-	1	1351	c.1261C>T	c.(1261-1263)Cag>Tag	p.Q421*	CPN2_uc021xix.1_Nonsense_Mutation_p.Q421*	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	421	LRRCT.				protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CAGTAGGTCTGGATGTTCAGG	0.622000														22			18		0	0	0.00074312	0	0
SSH2	85464	broad.mit.edu	37	17	28120914	28120914	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:28120914C>T	uc002heo.1	-	1	105	c.105G>A	c.(103-105)agG>agA	p.R35R	SSH2_uc010wbh.1_Silent_p.R62R|SSH2_uc002hep.1_Silent_p.R35R|SSH2_uc002her.3_Silent_p.R35R|SSH2_uc010csc.1_Silent_p.R35R	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA.	35					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAACATACCTCCTGGGCTGTG	0.338000														24			32		0	0	0.00111076	0	0
SLC26A7	115111	broad.mit.edu	37	8	92301414	92301414	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:92301414G>A	uc003yez.3	+	2	483	c.244G>A	c.(244-246)Ggg>Agg	p.G82R	SLC26A7_uc003yex.3_Missense_Mutation_p.G82R|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Missense_Mutation_p.G82R	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	82						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TGGTTTATATGGGTCTCTGTT	0.403000														96			54		0	0	0.00361006	0	0
TLR5	7100	broad.mit.edu	37	1	223285675	223285675	+	Silent	SNP	A	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:223285675A>C	uc021pjl.1	-	0	699	c.699T>G	c.(697-699)gtT>gtG	p.V233V	TLR5_uc001hnv.2_Silent_p.V233V|TLR5_uc001hnw.2_Silent_p.V233V	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	233					MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CATTTCCAGAAACATCTAGTA	0.458000														57			64		0	0	0.00361006	0	0
MAP3K6	9064	broad.mit.edu	37	1	27684357	27684357	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:27684357C>T	uc001bny.1	-	21	3175	c.2926G>A	c.(2926-2928)Gag>Aag	p.E976K	MAP3K6_uc009vsw.1_Missense_Mutation_p.E968K	NM_004672	NP_004663	O95382	M3K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 6 (MAP3K6), mRNA.	976					activation of JUN kinase activity		ATP binding|MAP kinase kinase kinase activity|magnesium ion binding			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GCCGCAGGCTCCTCGGGCACC	0.652000											OREG0013282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		7			4		0	0	0.000602214	0	0
ZNF300	91975	broad.mit.edu	37	5	150277702	150277702	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:150277702C>T	uc021yfx.1	-	5	663	c.235G>A	c.(235-237)Gga>Aga	p.G79R	ZNF300_uc021yfy.1_Missense_Mutation_p.G63R|ZNF300_uc021yfz.1_Missense_Mutation_p.G27R	NM_001172831	NP_001166303	Q96RE9	ZN300_HUMAN	Homo sapiens zinc finger protein 300 (ZNF300), transcript variant 1, mRNA.	63	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCTCTTCTCCTTGTTCCAAC	0.388000														9			3		0	0	6.4e-05	0	0
CRYGB	1419	broad.mit.edu	37	2	209010568	209010568	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:209010568C>T	uc002vcp.4	-	1	215	c.182G>A	c.(181-183)gGg>gAg	p.G61E	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Intron	NM_005210	NP_005201	P07316	CRGB_HUMAN	Homo sapiens crystallin, gamma B (CRYGB), mRNA.	61	Beta/gamma crystallin 'Greek key' 2.				visual perception		structural constituent of eye lens	p.R60C(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		AGGGTACTCCCCACGCCGCAG	0.612000														37			16		0	0	0.00316338	0	0
SPINK5	11005	broad.mit.edu	37	5	147449948	147449948	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:147449948G>A	uc003lox.2	+	2	217	c.144G>A	c.(142-144)aaG>aaA	p.K48K	SPINK5_uc010jgq.1_Non-coding_Transcript|SPINK5_uc010jgs.1_Silent_p.K20K|SPINK5_uc010jgr.2_Silent_p.K29K|SPINK5_uc003low.2_Silent_p.K48K|SPINK5_uc003loy.2_Silent_p.K48K	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	48	Kazal-like 1; atypical.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAGGATAAGAAATTTTTTC	0.323000														7			6		0	0	0.00198382	0	0
RAET1K	646024	broad.mit.edu	37	6	150322188	150322188	+	RNA	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:150322188G>A	uc003qnq.3	-	1		c.689C>T								Homo sapiens retinoic acid early transcript 1K pseudogene (RAET1K), non-coding RNA.																		GTCCATTGAAGAGGAACTGCC	0.502000														19			17		0	0	0.00074312	0	0
ZNF808	388558	broad.mit.edu	37	19	53057062	53057062	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:53057062A>C	uc010epq.1	+	4	1070	c.893A>C	c.(892-894)tAc>tCc	p.Y298S	ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808 (ZNF808), mRNA.	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TCCTTCAGTTACAAGTCATCC	0.418000														89			31		0	0	0.0024448	0	0
SULF1	23213	broad.mit.edu	37	8	70570767	70570767	+	Silent	SNP	T	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:70570767T>G	uc003xyg.2	+	21	3174	c.2613T>G	c.(2611-2613)ggT>ggG	p.G871G	SULF1_uc010lza.1_Silent_p.G871G|SULF1_uc003xyd.2_Silent_p.G871G|SULF1_uc003xye.2_Silent_p.G871G|SULF1_uc003xyf.2_Silent_p.G871G|SULF1_uc003xyh.1_Non-coding_Transcript|SULF1_uc003xyi.1_Missense_Mutation_p.V18G|SULF1_uc003xyj.1_Missense_Mutation_p.V18G	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	871					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GATGGGAAGGTTAATCAGCCC	0.438000														41			21		0	0	0.00395357	0	0
IGSF9	57549	broad.mit.edu	37	1	159897575	159897575	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:159897575G>A	uc001fur.2	-	19	3531	c.3333C>T	c.(3331-3333)ctC>ctT	p.L1111L	IGSF9_uc001fuq.2_Silent_p.L1095L|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Silent_p.L257L	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	1111						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTCAGGTCTGAGCCGGGAGC	0.592000														81			29		0	0	0.00106085	0	0
ROS1	6098	broad.mit.edu	37	6	117709098	117709098	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:117709098G>A	uc003pxp.1	-	12	2058	c.1859C>T	c.(1858-1860)cCt>cTt	p.P620L	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	620	Fibronectin type-III 3.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGTGACTTCAGGAGGGTCTTG	0.433000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									131			5		0	0	0.00116845	0	0
SENP1	29843	broad.mit.edu	37	12	48477454	48477454	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:48477454G>A	uc001rqx.3	-	5	918	c.472C>T	c.(472-474)Cca>Tca	p.P158S	SENP1_uc001rqw.3_Missense_Mutation_p.P158S|SENP1_uc001rqy.3_5'UTR|SENP1_uc001rqz.3_5'UTR|SENP1_uc009zkx.3_Missense_Mutation_p.P158S	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 1 (SENP1), mRNA.	158	Ser-rich.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	SUMO-specific protease activity|endopeptidase activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				CTCCAAGATGGACTTGGAACA	0.403000														43			37		0	0	0.000953801	0	0
GHDC	84514	broad.mit.edu	37	17	40344262	40344262	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:40344262C>T	uc002hzd.3	-	3	1370	c.886G>A	c.(886-888)Gga>Aga	p.G296R	GHDC_uc002hzg.2_Missense_Mutation_p.G296R|GHDC_uc010wgg.2_Missense_Mutation_p.G257R|GHDC_uc002hze.4_Missense_Mutation_p.G296R|GHDC_uc002hzf.4_Missense_Mutation_p.G296R|GHDC_uc010cxz.2_Non-coding_Transcript	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN	Homo sapiens GH3 domain containing (GHDC), transcript variant 1, mRNA.	296						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CACTGACCTCCCGAGGCAGCA	0.587000														119			12		0	0	0.00185496	0	0
TBX5	6910	broad.mit.edu	37	12	114832685	114832685	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:114832685G>A	uc001tvo.3	-	5	1019	c.524C>T	c.(523-525)tCc>tTc	p.S175F	TBX5_uc001tvp.3_Missense_Mutation_p.S175F|TBX5_uc001tvq.3_Missense_Mutation_p.S125F|TBX5_uc010syv.2_Missense_Mutation_p.S175F	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	175					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TTTGTGCATGGAATTTAGAAT	0.373000														145			113		0	0	0.00361006	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643778	37643778	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:37643778G>A	uc002ofo.1	-	4	1254	c.1023C>T	c.(1021-1023)ctC>ctT	p.L341L	ZNF585A_uc002ofm.1_Silent_p.L286L|ZNF585A_uc002ofn.1_Silent_p.L286L	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATGTGTAACGAGGTTGGAAT	0.398000														72			45		0	0	0.00285205	0	0
TSPAN8	7103	broad.mit.edu	37	12	71533496	71533496	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:71533496G>A	uc009zrt.1	-	2	418	c.256C>T	c.(256-258)Ctg>Ttg	p.L86L	TSPAN8_uc001swk.1_Silent_p.L86L|TSPAN8_uc001swj.1_Silent_p.L86L	NM_004616	NP_004607	P19075	TSN8_HUMAN	Homo sapiens tetraspanin 8 (TSPAN8), mRNA.	86					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			CTCACCAACAGAAGCATGCAG	0.468000														253			9		0	0	0.000274275	0	0
ANKRD11	29123	broad.mit.edu	37	16	89350734	89350734	+	Missense_Mutation	SNP	G	A	A	rs146294483		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:89350734G>A	uc002fmx.1	-	8	2677	c.2216C>T	c.(2215-2217)tCg>tTg	p.S739L	ANKRD11_uc002fmy.1_Missense_Mutation_p.S739L|ANKRD11_uc002fnc.1_Missense_Mutation_p.S739L|ANKRD11_uc002fnb.1_Missense_Mutation_p.S696L	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	739	Lys-rich.					nucleus		p.R738C(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGCTTTATTCGAACGGTCTTT	0.388000														67			35		0	0	0.00375469	0	0
MGRN1	23295	broad.mit.edu	37	16	4723511	4723511	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:4723511G>A	uc002cxa.3	+	9	945	c.808G>A	c.(808-810)Gag>Aag	p.E270K	MGRN1_uc002cwz.3_Missense_Mutation_p.E270K|MGRN1_uc010uxo.2_Missense_Mutation_p.E270K|MGRN1_uc010uxp.2_Missense_Mutation_p.E270K|MGRN1_uc010btw.3_Missense_Mutation_p.E271K|MGRN1_uc010uxq.2_Non-coding_Transcript	NM_015246	NP_056061	O60291	MGRN1_HUMAN	Homo sapiens mahogunin, ring finger 1 (MGRN1), transcript variant 1, mRNA.	270					endosome to lysosome transport|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of cAMP-mediated signaling|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CTCGGACGACGAGAACAGCGA	0.657000														172			64		0	0	0.00361006	0	0
CLEC5A	23601	broad.mit.edu	37	7	141631588	141631588	+	Silent	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:141631588A>G	uc003vwv.1	-	5	581	c.384T>C	c.(382-384)ttT>ttC	p.F128F	CLEC5A_uc011krm.1_Silent_p.F105F|CLEC5A_uc003vww.1_Silent_p.F127F|CLEC5A_uc010lnq.1_Silent_p.F105F|CLEC5A_uc010lnr.1_Non-coding_Transcript	NM_013252	NP_037384	Q9NY25	CLC5A_HUMAN	Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA.	128	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					TTAAGCCAATAAAATACTTCT	0.388000														79			25		0	0	0.000878237	0	0
LPIN3	64900	broad.mit.edu	37	20	39986637	39986637	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:39986637C>A	uc010ggh.3	+	16	2249	c.2158C>A	c.(2158-2160)Ctt>Att	p.L720I	LPIN3_uc002xjx.3_Missense_Mutation_p.L719I|LPIN3_uc010zwf.2_Intron	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	Homo sapiens lipin 3 (LPIN3), mRNA.	719	C-LIP.				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				GGGCCCCATCCTTCTGTCTCC	0.662000														36			16		1.45105e-14	3.31445e-14	0.00074312	1	0
OR10T2	128360	broad.mit.edu	37	1	158368941	158368941	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:158368941G>A	uc010pih.2	-	0	316	c.316C>T	c.(316-318)Ctt>Ttt	p.L106F		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA.	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GCAAAGCCAAGGAAAAAGAAC	0.493000														21			30		0	0	0.00127121	0	0
ATM	472	broad.mit.edu	37	11	108124634	108124634	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:108124634C>T	uc001pkb.1	+	12	2377	c.1992C>T	c.(1990-1992)acC>acT	p.T664T	ATM_uc009yxr.1_Silent_p.T664T	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	664					DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ACTTTTTAACCATTGTGAGAG	0.388000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				33			12		0	0	0.00185496	0	0
TMPPE	643853	broad.mit.edu	37	3	33134522	33134522	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:33134522G>A	uc003cfk.2	-	1	1378	c.1166C>T	c.(1165-1167)tCt>tTt	p.S389F	GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Missense_Mutation_p.S252F|TMPPE_uc021wux.1_Missense_Mutation_p.S389F	NM_001039770	NP_001129710	Q6ZT21	TMPPE_HUMAN	Homo sapiens transmembrane protein with metallophosphoesterase domain (TMPPE), transcript variant 1, mRNA.	389						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						TGTGTGCCCAGAAAGGATCAG	0.562000														99			5		0	0	0.00116845	0	0
OR13A1	79290	broad.mit.edu	37	10	45798957	45798957	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:45798957G>A	uc001jcc.1	-	3	1223	c.914C>T	c.(913-915)cCc>cTc	p.P305L	OR13A1_uc001jcd.1_Missense_Mutation_p.P301L|OR13A1_uc021ppq.1_Missense_Mutation_p.P305L	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily A, member 1 (OR13A1), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						ATAGATGAGGGGGTTGAGGGT	0.493000														33			11		0	0	0.000978159	0	0
GRIA2	2891	broad.mit.edu	37	4	158257615	158257615	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:158257615G>A	uc003ipm.4	+	10	2019	c.1560G>A	c.(1558-1560)ggG>ggA	p.G520G	GRIA2_uc011cit.2_Silent_p.G473G|GRIA2_uc003ipl.4_Silent_p.G520G|GRIA2_uc003ipk.4_Silent_p.G473G|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	520					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.G520W(2)|p.L519L(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TGAGCCTCGGGATATCTATCA	0.413000														7			5		0	0	0.00116845	0	0
SOGA2	23255	broad.mit.edu	37	18	8825784	8825784	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr18:8825784C>T	uc002knr.2	+	14	4418	c.4276C>T	c.(4276-4278)Cgc>Tgc	p.R1426C	SOGA2_uc002knq.2_Missense_Mutation_p.R1385C|SOGA2_uc002kns.2_Missense_Mutation_p.R766C	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	1736																	AGCCTGGGCCCGCTCCACCAC	0.607000														20			14		0	0	0.00400662	0	0
ACACB	32	broad.mit.edu	37	12	109692060	109692060	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:109692060C>T	uc001tob.3	+	43	6206	c.6087C>T	c.(6085-6087)ccC>ccT	p.P2029P	ACACB_uc001toc.3_Silent_p.P2029P|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Silent_p.P695P	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	2029	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CCACTGACCCCATTGACAGAG	0.473000														90			42		0	0	0.00222228	0	0
RGS3	5998	broad.mit.edu	37	9	116246496	116246496	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:116246496C>T	uc004bhq.3	+	6	813	c.604C>T	c.(604-606)Cac>Tac	p.H202Y	RGS3_uc004bhr.3_Missense_Mutation_p.H90Y|RGS3_uc004bhs.3_Missense_Mutation_p.H92Y	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	202	C2.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CCCGGCTTTCCACGAGCACTT	0.483000														36			42		0	0	0.00361006	0	0
PKD1L2	114780	broad.mit.edu	37	16	81181949	81181949	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:81181949G>A	uc002fgh.1	-	28	4767	c.4767C>T	c.(4765-4767)ttC>ttT	p.F1589F	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1589					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCTGCCAGGTGAATTCAATTT	0.572000														50			17		0	0	0.000958276	0	0
VSNL1	7447	broad.mit.edu	37	2	17773477	17773477	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:17773477G>A	uc002rcm.3	+	1	520	c.136G>A	c.(136-138)Gag>Aag	p.E46K		NM_003385	NP_003376	P62760	VISL1_HUMAN	Homo sapiens visinin-like 1 (VSNL1), mRNA.	46	EF-hand 1.						calcium ion binding	p.E46Q(2)		NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCTAAATCTCGAGGAATTTCA	0.428000														26			17		0	0	0.00152264	0	0
MUC16	94025	broad.mit.edu	37	19	9088751	9088751	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:9088751G>A	uc002mkp.3	-	0	3268	c.3064C>T	c.(3064-3066)Ctc>Ttc	p.L1022F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1022	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTGTTGTGAGGATGGTTGTT	0.468000														156			33		0	0	0.00283554	0	0
FGFR2	2263	broad.mit.edu	37	10	123325068	123325068	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:123325068A>G	uc021pzz.1	-	2	907	c.260T>C	c.(259-261)cTt>cCt	p.L87P	FGFR2_uc021pzv.1_Missense_Mutation_p.L87P|FGFR2_uc021pzw.1_Intron|FGFR2_uc021pzx.1_Intron|FGFR2_uc021pzy.1_Missense_Mutation_p.L87P|FGFR2_uc010qtl.2_Missense_Mutation_p.L87P|FGFR2_uc010qtm.2_Intron|FGFR2_uc021qaa.1_Missense_Mutation_p.L87P|FGFR2_uc021qab.1_Intron|FGFR2_uc021qac.1_Intron|FGFR2_uc001lfn.4_Intron|FGFR2_uc010qtn.2_Missense_Mutation_p.L106P|FGFR2_uc010qto.2_Intron|FGFR2_uc001lfo.1_Missense_Mutation_p.L106P|FGFR2_uc010qtp.2_Missense_Mutation_p.L106P|FGFR2_uc010qtq.2_Missense_Mutation_p.L106P	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	87	Ig-like C2-type 1.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CTCCCCAATAAGCACTGTCCT	0.547000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					71			13		0	0	0.00316338	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576825	158576825	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:158576825C>T	uc010pio.2	+	0	597	c.597C>T	c.(595-597)atC>atT	p.I199I		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					AGCTGAGGATCTTTATCCTCA	0.512000														24			31		0	0	0.00178596	0	0
ZNF366	167465	broad.mit.edu	37	5	71752399	71752399	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:71752399C>T	uc003kce.1	-	2	1542	c.1356G>A	c.(1354-1356)ggG>ggA	p.G452G		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GCCCACAAATCCCACACTTAT	0.517000														79			12		0	0	0.000978159	0	0
FOXG1	2290	broad.mit.edu	37	14	29237749	29237749	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:29237749C>T	uc001wqe.3	+	0	1463	c.1264C>T	c.(1264-1266)Ccg>Tcg	p.P422S		NM_005249	NP_005240	P55316	FOXG1_HUMAN	Homo sapiens forkhead box G1 (FOXG1), mRNA.	422					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.V421I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CCCCCACGTCCCGCACCCGTC	0.682000														23			12		0	0	0.00136819	0	0
SFTPA2	729238	broad.mit.edu	37	10	81319087	81319087	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:81319087T>A	uc001kal.4	-	2	250	c.153A>T	c.(151-153)aaA>aaT	p.K51N	SFTPA2_uc001kan.4_Missense_Mutation_p.K51N|SFTPA2_uc001kam.2_Non-coding_Transcript	NM_001098668	NP_001092138	Q8IWL1	SFPA2_HUMAN	Homo sapiens surfactant protein A2 (SFTPA2), mRNA.	51	Collagen-like.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CAGGGTCTCCTTTGACACCAT	0.632000									Pulmonary Fibrosis, Idiopathic					83			9		0	0	0.000442599	0	0
NRXN2	9379	broad.mit.edu	37	11	64421195	64421195	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:64421195C>T	uc021qkw.1	-	12	2852	c.2390_splice	c.e12-1	p.D797_splice	NRXN2_uc021qkx.1_Intron|NRXN2_uc001oas.3_Intron|NRXN2_uc001oaq.3_Splice_Site_p.D464_splice	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	797	Laminin G-like 4.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CGCAGGCAGTCTGGGGGGGCC	0.582000														15			4		0	0	0.000602214	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809590	18809590	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:18809590C>T	uc001bax.3	+	0	2167	c.2115C>T	c.(2113-2115)tgC>tgT	p.C705C	KLHDC7A_uc009vpg.3_Silent_p.C487C	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	705						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGTACGAGTGCGCCACGTACC	0.652000														18			19		0	0	0.000958276	0	0
LSR	51599	broad.mit.edu	37	19	35757850	35757850	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:35757850C>T	uc002nyl.3	+	7	1491	c.1268C>T	c.(1267-1269)cCc>cTc	p.P423L	LSR_uc010xsr.2_Missense_Mutation_p.P315L|LSR_uc002nym.3_Missense_Mutation_p.P404L|LSR_uc002nyn.3_Missense_Mutation_p.P355L|LSR_uc002nyo.3_Missense_Mutation_p.P403L|LSR_uc002nyp.3_Missense_Mutation_p.P365L|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nyt.1_5'Flank|USF2_uc002nyv.1_5'Flank	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA.	423					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCTGGCCCCCCCAGTGGCCGT	0.622000														25			10		0	0	0.000978159	0	0
CTAGE15P	441294	broad.mit.edu	37	7	143270136	143270136	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:143270136G>A	uc011kth.2	+	0	1247	c.1226G>A	c.(1225-1227)cGa>cAa	p.R409Q		NM_001008747	NP_001008747	A4D2H0	A4D2H0_HUMAN	Homo sapiens CTAGE family, member 15, pseudogene (CTAGE15P), mRNA.	409																	GAAAATTACCGAATAGAGGAA	0.378000														74			19		0	0	0.00152264	0	0
PCBP3	54039	broad.mit.edu	37	21	47359986	47359986	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:47359986G>A	uc002zhq.2	+	12	1077	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	PCBP3_uc002zhp.2_Missense_Mutation_p.E298K|PCBP3_uc002zhs.2_Missense_Mutation_p.E292K|PCBP3_uc002zht.2_Missense_Mutation_p.E308K	NM_020528	NP_065389	P57721	PCBP3_HUMAN	Homo sapiens poly(rC) binding protein 3 (PCBP3), transcript variant 1, mRNA.	318	KH 3.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CAAAATCAATGAAATTCGACA	0.527000														42			11		0	0	0.00136819	0	0
TLR4	7099	broad.mit.edu	37	9	120476461	120476461	+	Silent	SNP	G	A	A	rs141222130		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:120476461G>A	uc004bjz.3	+	2	2346	c.2055G>A	c.(2053-2055)gaG>gaA	p.E685E	TLR4_uc004bkb.3_Silent_p.E485E|TLR4_uc004bka.3_Silent_p.E645E	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	685	TIR.				I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GCCAGGATGAGGACTGGGTAA	0.433000														9			14		0	0	0.00244969	0	0
TTC7B	145567	broad.mit.edu	37	14	91007921	91007921	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:91007921G>A	uc001xyp.3	-	19	2445	c.2323C>T	c.(2323-2325)Cac>Tac	p.H775Y	TTC7B_uc001xyo.3_Missense_Mutation_p.H219Y|TTC7B_uc010ats.3_Non-coding_Transcript	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	Homo sapiens tetratricopeptide repeat domain 7B (TTC7B), mRNA.	775							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CCTAGCTGGTGAAGGATCAGG	0.602000														20			6		0	0	0.00116845	0	0
PRRG3	79057	broad.mit.edu	37	X	150868980	150868980	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:150868980G>A	uc022cgt.1	+	3	220	c.171G>A	c.(169-171)atG>atA	p.M57I	PRRG3_uc004few.2_Missense_Mutation_p.M57I	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA.	57	Gla.					extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTGCAGATGGAGTTCTGGA	0.532000														89			11		0	0	0.000978159	0	0
NHS	4810	broad.mit.edu	37	X	17710468	17710468	+	Silent	SNP	G	A	A	rs139131486		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:17710468G>A	uc011mix.2	+	2	1070	c.732G>A	c.(730-732)cgG>cgA	p.R244R	NHS_uc004cxx.3_Silent_p.R244R|NHS_uc004cxy.3_Silent_p.R67R|NHS_uc004cxz.3_Silent_p.R67R|NHS_uc004cya.3_5'UTR	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	244						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					ACCGGAGCCGGAGCGATCGCC	0.522000														17			52		0	0	0.00361006	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460171	107460171	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:107460171G>A	uc002tdq.3	-	1	382	c.263C>T	c.(262-264)tCc>tTc	p.S88F	ST6GAL2_uc002tdr.3_Missense_Mutation_p.S88F|ST6GAL2_uc002tds.3_Missense_Mutation_p.S88F	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	88					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.G87S(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CGCATGAAAGGAACCGGCTGG	0.632000														20			13		0	0	0.00185496	0	0
KCNH5	27133	broad.mit.edu	37	14	63175101	63175101	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:63175101G>A	uc001xfx.3	-	10	2143	c.2092C>T	c.(2092-2094)Ctc>Ttc	p.L698F	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	698					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GGAATGCTGAGGGTCACCTCA	0.542000														96			55		0	0	0.00361006	0	0
OR51D1	390038	broad.mit.edu	37	11	4661929	4661929	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:4661929C>T	uc010qyk.2	+	0	985	c.909C>T	c.(907-909)gtC>gtT	p.V303V		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCCCCTTGTCTATGGAGCCA	0.517000														88			27		0	0	0.00127121	0	0
MID2	11043	broad.mit.edu	37	X	107084038	107084038	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:107084038G>A	uc004enl.3	+	1	716	c.143G>A	c.(142-144)aGc>aAc	p.S48N	MID2_uc004enk.3_Missense_Mutation_p.S48N	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.	48						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGTGCTCACAGCCTCTGCTTC	0.483000														106			8		0	0	0.000274275	0	0
SPATA5	166378	broad.mit.edu	37	4	124235190	124235190	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:124235190C>T	uc003iez.4	+	15	2726	c.2653C>T	c.(2653-2655)Caa>Taa	p.Q885*		NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	Homo sapiens spermatogenesis associated 5 (SPATA5), mRNA.	885					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TGAAGATTATCAAGAGAAGAG	0.348000														30			24		0	0	0.000720815	0	0
NLRP7	199713	broad.mit.edu	37	19	55451188	55451188	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:55451188G>A	uc002qih.4	-	3	1075	c.999C>T	c.(997-999)ttC>ttT	p.F333F	NLRP7_uc010esk.3_Silent_p.F333F|NLRP7_uc002qig.4_Silent_p.F333F|NLRP7_uc002qii.4_Silent_p.F333F|NLRP7_uc010esl.3_Silent_p.F361F	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	333	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGTGTCTCAGGAAATAGGCCC	0.647000														21			12		0	0	0.00316338	0	0
ABI3	51225	broad.mit.edu	37	17	47300000	47300000	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:47300000T>A	uc002iop.1	+	7	1522	c.1024T>A	c.(1024-1026)Tcc>Acc	p.S342T	ABI3_uc002ioq.1_Missense_Mutation_p.S336T	NM_016428	NP_057512	Q9P2A4	ABI3_HUMAN	Homo sapiens ABI family, member 3 (ABI3), transcript variant 1, mRNA.	342	SH3.				cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			TCGCCGCTACTCCGATGGCTG	0.602000										HNSCC(55;0.14)				8			8		0	0	0.00307968	0	0
ZNF335	63925	broad.mit.edu	37	20	44589505	44589505	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:44589505G>A	uc002xqw.3	-	10	1786	c.1663C>T	c.(1663-1665)Ccg>Tcg	p.P555S	ZNF335_uc010zxk.2_Missense_Mutation_p.P400S	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				AGACTCACCGGATCTGGCCTC	0.587000														18			8		0	0	0.000442599	0	0
LEKR1	389170	broad.mit.edu	37	3	156710999	156710999	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:156710999G>A	uc021xgh.1	+	8	1156	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K	LEKR1_uc003fba.1_Non-coding_Transcript	NM_001004316	NP_001004316	D3DNK7	D3DNK7_HUMAN	Homo sapiens leucine, glutamate and lysine rich 1 (LEKR1), transcript variant 1, mRNA.	57										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TGCAGAAAATGAACTGGAGAT	0.328000														80			37		0	0	0.00148497	0	0
AKAP9	10142	broad.mit.edu	37	7	91712761	91712761	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:91712761C>T	uc003ulg.3	+	32	8663	c.8438C>T	c.(8437-8439)tCc>tTc	p.S2813F	AKAP9_uc003ulf.3_Missense_Mutation_p.S2805F|AKAP9_uc003uli.3_Missense_Mutation_p.S2436F|AKAP9_uc003ulj.3_Missense_Mutation_p.S583F|AKAP9_uc003ulk.3_Missense_Mutation_p.S88F	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	2825					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGTGAATGTTCCTCAGAAGAA	0.363000			T	BRAF	papillary thyroid									25			10		0	0	0.000442599	0	0
MYBPC3	4607	broad.mit.edu	37	11	47356646	47356646	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:47356646C>T	uc021qis.1	-	26	2907	c.2852G>A	c.(2851-2853)gGg>gAg	p.G951E	MYBPC3_uc021qir.1_Missense_Mutation_p.G603E	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	950	Fibronectin type-III 2.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GGCTCCAGGCCCTGCCATATT	0.637000														10			13		0	0	0.00185496	0	0
DHX34	9704	broad.mit.edu	37	19	47882968	47882968	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:47882968C>T	uc010xyn.2	+	14	3056	c.2707_splice	c.e14-1	p.S903_splice	DHX34_uc010xyo.1_Splice_Site_p.S32_splice	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	903						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		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)		CTCTTTCAGTCCCTCCTGCTT	0.642000														81			13		0	0	0.00244969	0	0
CEP55	55165	broad.mit.edu	37	10	95262876	95262876	+	Nonsense_Mutation	SNP	C	T	T	rs146596670		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:95262876C>T	uc001kiq.4	+	2	494	c.190C>T	c.(190-192)Cga>Tga	p.R64*	CEP55_uc009xug.3_Nonsense_Mutation_p.R64*	NM_018131	NP_060601	Q53EZ4	CEP55_HUMAN	Homo sapiens centrosomal protein 55kDa (CEP55), transcript variant 1, mRNA.	64					cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				CTAGAAAATTCGAGTCCTTGA	0.368000														28			8		0	0	0.000274275	0	0
CEP250	11190	broad.mit.edu	37	20	34067172	34067172	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:34067172G>A	uc021wco.1	+	17	2858	c.2211G>A	c.(2209-2211)gaG>gaA	p.E737E	CEP250_uc010zve.2_Silent_p.E105E	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	737	Gln/Glu-rich.				G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TAGTACGAGAGAAAGCGGCTC	0.617000														94			50		0	0	0.00361006	0	0
OR13G1	441933	broad.mit.edu	37	1	247835467	247835467	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:247835467C>T	uc001idi.1	-	0	877	c.877G>A	c.(877-879)Gag>Aag	p.E293K		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GCCTGCATCTCCCTATTCTGG	0.433000														25			25		0	0	0.00395357	0	0
PCSK4	54760	broad.mit.edu	37	19	1487857	1487857	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:1487857G>A	uc002ltb.1	-	4	582	c.520C>T	c.(520-522)Ccc>Tcc	p.P174S	PCSK4_uc002lta.2_Silent_p.T15T	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 4 (PCSK4), mRNA.	174	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGCCAGGGGGTCCTGGGGG	0.701000														8			6		0	0	0.00116845	0	0
GPR32	2854	broad.mit.edu	37	19	51274318	51274318	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:51274318C>T	uc010ycf.2	+	0	461	c.461C>T	c.(460-462)aCt>aTt	p.T154I		NM_001506	NP_001497	O75388	GPR32_HUMAN	Homo sapiens G protein-coupled receptor 32 (GPR32), mRNA.	154						integral to plasma membrane	N-formyl peptide receptor activity	p.R153R(1)		breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AACCACCGCACTGTGCAGCGG	0.597000														54			39		0	0	0.00111076	0	0
EHD1	10938	broad.mit.edu	37	11	64621904	64621904	+	Silent	SNP	C	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:64621904C>A	uc010rnq.1	-	5	1595	c.1548G>T	c.(1546-1548)gcG>gcT	p.A516A	EHD1_uc021qkz.1_Silent_p.A185A|EHD1_uc001obu.1_Silent_p.A502A|EHD1_uc001obv.1_Silent_p.A502A	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	Homo sapiens EH-domain containing 1 (EHD1), mRNA.	502	EH.				blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						GGTTGGCCAGCGCGAACTCCT	0.637000														25			9		2.74318e-10	6.23775e-10	0.000442599	1	0
ECHDC2	55268	broad.mit.edu	37	1	53364886	53364886	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:53364886G>A	uc001cup.4	-	7	959	c.713C>T	c.(712-714)gCc>gTc	p.A238V	ECHDC2_uc001cun.3_Missense_Mutation_p.A161V|ECHDC2_uc001cuo.4_Missense_Mutation_p.A207V|ECHDC2_uc021onl.1_Intron|ECHDC2_uc010onk.2_Missense_Mutation_p.A192V	NM_001198961	NP_001185890	Q86YB7	ECHD2_HUMAN	Homo sapiens enoyl CoA hydratase domain containing 2 (ECHDC2), transcript variant 1, mRNA.	238					fatty acid metabolic process	mitochondrion	lyase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						CAGCCGCACGGCAATGGGGGC	0.547000														52			17		0	0	0.00074312	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77509952	77509952	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:77509952C>T	uc001dhi.3	+	2	500	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	ST6GALNAC5_uc010ori.2_Intron|ST6GALNAC5_uc009wbw.3_Non-coding_Transcript	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 (ST6GALNAC5), mRNA.	109					protein glycosylation	integral to Golgi membrane	sialyltransferase activity	p.R109Q(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						GCTGCACAGTCGGCAAGGCTC	0.617000														37			18		0	0	0.000958276	0	0
MS4A4E	643680	broad.mit.edu	37	11	59997406	59997406	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:59997406C>T	uc001noy.2	-	0	139	c.123G>A	c.(121-123)aaG>aaA	p.K41K	MS4A4E_uc001nov.2_Non-coding_Transcript|MS4A4E_uc001now.2_Non-coding_Transcript|MS4A4E_uc001nox.2_Silent_p.K41K|MS4A4E_uc009ymw.2_Silent_p.K41K					RecName: Full=Putative membrane-spanning 4-domains subfamily A member 4E;											ovary(1)	1						TGGGTTTCCTCTTGAAGAACT	0.448000														5			5		0	0	0.000602214	0	0
OR56B1	387748	broad.mit.edu	37	11	5757959	5757959	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:5757959C>T	uc001mbt.2	+	0	282	c.213C>T	c.(211-213)ttC>ttT	p.F71F	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|OR56B1_uc001mbs.1_Silent_p.F71F|OR56B1_uc009yev.1_Silent_p.F71F	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		TGTATATTTTCCTTGGCATCC	0.493000														22			5		0	0	0.000602214	0	0
SPIB	6689	broad.mit.edu	37	19	50926083	50926083	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:50926083C>T	uc002psd.3	+	3	153	c.128C>T	c.(127-129)tCc>tTc	p.S43F	SPIB_uc021uyc.1_Missense_Mutation_p.P24S|SPIB_uc002pse.3_Missense_Mutation_p.S43F|SPIB_uc010ycc.2_Intron	NM_003121	NP_003112	Q01892	SPIB_HUMAN	Homo sapiens Spi-B transcription factor (Spi-1/PU.1 related) (SPIB), transcript variant 1, mRNA.	43	TAD2.				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CCCCCAGACTCCCTGTGGGAC	0.647000														44			12		0	0	0.00244969	0	0
CAT	847	broad.mit.edu	37	11	34473725	34473725	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:34473725C>T	uc001mvm.3	+	3	540	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	CAT_uc009ykc.1_Non-coding_Transcript	NM_001752	NP_001743	P04040	CATA_HUMAN	Homo sapiens catalase (CAT), mRNA.	151					UV protection|hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process	peroxisomal matrix|peroxisomal membrane	NADP binding|catalase activity|heme binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	AAATAACACCCCCATTTTCTT	0.408000														33			19		0	0	0.00074312	0	0
TUBA1B	10376	broad.mit.edu	37	12	49521749	49521749	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:49521749C>T	uc001rtm.3	-	3	1569	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K	TUBA1B_uc021qxn.1_Missense_Mutation_p.E248K|TUBA1B_uc001rtl.3_Missense_Mutation_p.E415K|TUBA1A_uc010smg.1_5'UTR	NM_006082	NP_006073	P68363	TBA1B_HUMAN	Homo sapiens tubulin, alpha 1b (TUBA1B), mRNA.	450					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding	p.E449Q(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						AATTAGTATTCCTCTCCTTCT	0.463000														54			54		0	0	0.00361006	0	0
HADHB	3032	broad.mit.edu	37	2	26501657	26501657	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:26501657C>T	uc002rgz.3	+	7	869	c.618C>T	c.(616-618)ttC>ttT	p.F206F	HADHB_uc010ykv.2_Silent_p.F184F|HADHB_uc010ykw.2_Silent_p.F191F|HADHB_uc010ykx.2_Silent_p.F132F	NM_000183	NP_000174	P55084	ECHB_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit (HADHB), nuclear gene encoding mitochondrial protein, mRNA.	206					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATTTAATTTCCTAGCACCTG	0.428000														26			32		0	0	0.00327116	0	0
EIF2B2	8892	broad.mit.edu	37	14	75469738	75469738	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:75469738C>T	uc001xrc.2	+	0	127	c.45C>T	c.(43-45)atC>atT	p.I15I		NM_014239	NP_055054	P49770	EI2BB_HUMAN	Homo sapiens eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa (EIF2B2), mRNA.	15					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			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		CAGAGAGGATCGAGAGCTTCG	0.627000														54			11		0	0	0.00244969	0	0
PSD	5662	broad.mit.edu	37	10	104176757	104176757	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:104176757G>A	uc001kvg.1	-	1	566	c.39C>T	c.(37-39)gaC>gaT	p.D13D	PSD_uc001kvh.1_Intron|PSD_uc009xxd.1_Silent_p.D13D|PSD_uc001kvi.1_Silent_p.D13D|FBXL15_uc001kvj.1_5'Flank|FBXL15_uc001kvk.2_5'Flank	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	13					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AGATGGCACAGTCGCCTTCCG	0.721000														6			4		0	0	0.00024832	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146513	70146513	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:70146513G>A	uc003hej.3	+	0	297	c.295G>A	c.(295-297)Gac>Aac	p.D99N	UGT2B28_uc010ihr.3_Missense_Mutation_p.D99N	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	99					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.S98L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GAGATGGTCAGACATTCAAAA	0.323000														17			9		0	0	0.000274275	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20874906	20874906	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:20874906C>T	uc010sii.2	+	8	1299	c.944C>T	c.(943-945)tCc>tTc	p.S315F	SLCO1C1_uc010sij.2_Missense_Mutation_p.S266F|SLCO1C1_uc009zip.3_Missense_Mutation_p.S149F|SLCO1C1_uc001rei.3_Missense_Mutation_p.S315F|SLCO1C1_uc010sik.2_Missense_Mutation_p.S197F	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	315					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TCTGAGAAATCCAAGTTTATT	0.373000														18			12		0	0	0.00136819	0	0
SYT10	341359	broad.mit.edu	37	12	33532801	33532801	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:33532801C>T	uc001rll.1	-	5	1763	c.1466G>A	c.(1465-1467)cGa>cAa	p.R489Q	SYT10_uc009zju.1_Missense_Mutation_p.R299Q	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	489						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.R489Q(2)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TATTGGTTTTCGATGATAGGC	0.453000														49			18		0	0	0.00121646	0	0
MRPL37	51253	broad.mit.edu	37	1	54666161	54666161	+	Missense_Mutation	SNP	A	G	G	rs142946413	byFrequency	TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:54666161A>G	uc001cxa.4	+	0	322	c.245A>G	c.(244-246)tAc>tGc	p.Y82C	CYB5RL_uc001cwy.4_5'Flank|CYB5RL_uc009vzo.3_5'Flank|CYB5RL_uc001cwx.4_5'Flank|MRPL37_uc009vzp.3_Missense_Mutation_p.T52A	NM_016491	NP_057575	Q9BZE1	RM37_HUMAN	Homo sapiens mitochondrial ribosomal protein L37 (MRPL37), nuclear gene encoding mitochondrial protein, mRNA.	82					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						GACCGCGGCTACAAGGACCCA	0.617000														44			12		0	0	0.00136819	0	0
DSCAM	1826	broad.mit.edu	37	21	41414351	41414351	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:41414351G>A	uc002yyq.1	-	31	6085	c.5633C>T	c.(5632-5634)cCt>cTt	p.P1878L	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1878					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCCATCCTGAGGTTTGGGGGG	0.572000														30			20		0	0	0.00152264	0	0
SSX7	280658	broad.mit.edu	37	X	52681933	52681933	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:52681933G>A	uc004dqx.1	-	2	330	c.171C>T	c.(169-171)gcC>gcT	p.A57A		NM_173358	NP_775494	Q7RTT5	SSX7_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 7 (SSX7), mRNA.	57	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					GTTTAGTCATGGCCTCATACT	0.408000														22			39		0	0	0.000953801	0	0
ACTR1A	10121	broad.mit.edu	37	10	104241783	104241783	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:104241783G>A	uc001kvv.3	-	7	1008	c.900C>T	c.(898-900)ctC>ctT	p.L300L	ACTR1A_uc010qqn.2_Silent_p.L226L|ACTR1A_uc010qqo.2_Silent_p.L253L	NM_005736	NP_005727	P61163	ACTZ_HUMAN	Homo sapiens ARP1 actin-related protein 1 homolog A, centractin alpha (yeast) (ACTR1A), mRNA.	300					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		AGCCTCCTGAGAGGACAATGT	0.542000														41			11		0	0	0.000673444	0	0
BEST3	144453	broad.mit.edu	37	12	70070981	70070981	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:70070981C>T	uc001svg.3	-	5	920	c.693G>A	c.(691-693)ggG>ggA	p.G231G	BEST3_uc001svd.2_Silent_p.G231G|BEST3_uc001svf.3_Silent_p.G69G|BEST3_uc010stm.2_Silent_p.G125G	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	231						chloride channel complex|plasma membrane	chloride channel activity	p.P230L(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CCAGCGGAATCCCAACCCAGT	0.463000														12			9		0	0	0.000673444	0	0
KEL	3792	broad.mit.edu	37	7	142651377	142651377	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:142651377G>A	uc003wcb.3	-	7	1028	c.818C>T	c.(817-819)tCc>tTc	p.S273F		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	273					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GATTGACAAGGAAGAGTGTTC	0.542000														48			24		0	0	0.00278032	0	0
ELMO1	9844	broad.mit.edu	37	7	37382274	37382274	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:37382274G>A	uc022abv.1	-	1	731	c.21C>T	c.(19-21)atC>atT	p.I7I	ELMO1_uc003tfk.2_Silent_p.I7I|ELMO1_uc010kxg.2_Silent_p.I7I	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	7					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CCACCTTGACGATGTCCGCGG	0.498000														130			58		0	0	0.00361006	0	0
ANLN	54443	broad.mit.edu	37	7	36458935	36458936	+	Silent	DNP	CC	TT	TT			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:36458935_36458936CC>TT	uc003tff.3	+	9	1920_1921	c.1716_1717CC>TT	c.(1714-1719)gtccta>gtTTta	p.572_573VL>VL	ANLN_uc011kaz.2_Silent_p.484_485VL>VL|ANLN_uc003tfg.3_Silent_p.535_536VL>VL|ANLN_uc010kxe.3_Silent_p.534_535VL>VL	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	572	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TCAGTGATGTCCTAGAGGAAGG	0.386000														47			20		0	0	6.4e-05	0	0
PHF12	57649	broad.mit.edu	37	17	27240100	27240100	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:27240100G>A	uc002hdg.1	-	8	2019	c.1489C>T	c.(1489-1491)Ccc>Tcc	p.P497S	PHF12_uc010wbb.1_Missense_Mutation_p.P479S|PHF12_uc002hdi.1_Missense_Mutation_p.P493S|PHF12_uc002hdj.1_Missense_Mutation_p.P497S|PHF12_uc010crw.1_Missense_Mutation_p.P200S|PHF12_uc002hdh.1_Missense_Mutation_p.P280S	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.	497	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			ATCCCTGAGGGGCAGGACAAG	0.547000														41			32		0	0	0.00327116	0	0
SPATC1	375686	broad.mit.edu	37	8	145095479	145095479	+	Silent	SNP	C	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:145095479C>A	uc011lkw.2	+	2	879	c.777C>A	c.(775-777)tcC>tcA	p.S259S	SPATC1_uc011lkx.2_Silent_p.S259S	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	259										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCCACTCTCCACTGAGCCCC	0.622000														46			15		1.00905e-13	2.30379e-13	0.00121646	1	0
OR4C15	81309	broad.mit.edu	37	11	55321881	55321881	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:55321881C>T	uc010rig.2	+	0	99	c.99C>T	c.(97-99)ttC>ttT	p.F33F		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						AGCAAATTTTCCTTTGTCCTA	0.368000										HNSCC(20;0.049)				34			14		0	0	0.00244969	0	0
DSCAM	1826	broad.mit.edu	37	21	41711083	41711083	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:41711083C>T	uc002yyq.1	-	6	1922	c.1470G>A	c.(1468-1470)gcG>gcA	p.A490A	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	490	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGACGACTCCCGCCGAGTTGT	0.517000														35			12		0	0	0.000566183	0	0
STK19	8859	broad.mit.edu	37	6	31940120	31940120	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:31940120G>A	uc003nyv.3	+	1	390	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	DOM3Z_uc003nyp.1_5'Flank|DOM3Z_uc003nyq.1_5'Flank|DOM3Z_uc010jtl.1_5'Flank|STK19_uc003nyt.3_Missense_Mutation_p.E45K|DOM3Z_uc003nyu.1_5'Flank|STK19_uc011dow.2_Missense_Mutation_p.E88K|STK19_uc011dox.1_Missense_Mutation_p.E45K|STK19_uc003nyw.3_Missense_Mutation_p.E88K|STK19_uc010jtn.1_Non-coding_Transcript	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	88						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.E88K(2)		skin(5)|upper_aerodigestive_tract(2)	7						CTCTGCGCCGGAAGACCCTAT	0.582000														64			16		0	0	0.00074312	0	0
SYNE1	23345	broad.mit.edu	37	6	152646290	152646290	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:152646290G>A	uc021zhb.1	-	78	15809	c.15586C>T	c.(15586-15588)Cga>Tga	p.R5196*	SYNE1_uc003qot.4_Nonsense_Mutation_p.R5125*|SYNE1_uc003qou.4_Nonsense_Mutation_p.R5196*|SYNE1_uc010kiz.3_Nonsense_Mutation_p.R951*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5196					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCCACAGCTCGAAGGCGTGTC	0.542000										HNSCC(10;0.0054)				147			10		0	0	0.00185496	0	0
GJA1	2697	broad.mit.edu	37	6	121768239	121768239	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:121768239C>T	uc003pyr.3	+	1	496	c.246C>T	c.(244-246)atC>atT	p.I82I	GJA1_uc011ebo.1_5'UTR|GJA1_uc011ebp.1_5'UTR|GJA1_uc021zel.1_Silent_p.I82I	NM_000165	NP_000156	P17302	CXA1_HUMAN	Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA.	82					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|connexon complex|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TCCTGCAGATCATATTTGTGT	0.448000														25			8		0	0	0.000274275	0	0
ALOX12B	242	broad.mit.edu	37	17	7990686	7990686	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:7990686G>A	uc002gjy.1	-	0	336	c.75C>T	c.(73-75)acC>acT	p.T25T	MIR4314_uc021tpn.1_5'Flank	NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	25	PLAT.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						TCCCCACAATGGTCAGTGAGA	0.567000										Multiple Myeloma(8;0.094)				40			55		0	0	0.00361006	0	0
ATP6V1A	523	broad.mit.edu	37	3	113513742	113513742	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:113513742C>T	uc003eao.3	+	8	1120	c.1012C>T	c.(1012-1014)Cgt>Tgt	p.R338C	ATP6V1A_uc011bik.2_Missense_Mutation_p.R305C	NM_001690	NP_001681	P38606	VATA_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A (ATP6V1A), mRNA.	338					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGAGTACTTCCGTGACATGGG	0.408000														110			54		0	0	0.00361006	0	0
FAM5B	57795	broad.mit.edu	37	1	177250269	177250269	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:177250269C>T	uc001glf.3	+	7	2269	c.1957C>T	c.(1957-1959)Ctg>Ttg	p.L653L	FAM5B_uc001glg.3_Silent_p.L548L	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	653						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						AATCAAGTCCCTGGATGACAG	0.463000														83			25		0	0	0.00395357	0	0
RGPD4	285190	broad.mit.edu	37	2	108488425	108488425	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:108488425C>T	uc010ywk.2	+	19	4047	c.3965C>T	c.(3964-3966)tCt>tTt	p.S1322F	RGPD4_uc002tdu.3_Missense_Mutation_p.S509F|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1322					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GATGAAGAATCTGATGTTACT	0.398000														79			25		0	0	0.000953801	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7660993	7660993	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:7660993C>T	uc001mfj.4	+	14	1655	c.1267C>T	c.(1267-1269)Ccc>Tcc	p.P423S	PPFIBP2_uc010rbb.1_Missense_Mutation_p.P346S|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.2_Missense_Mutation_p.P346S|PPFIBP2_uc010rbd.1_Missense_Mutation_p.P265S|PPFIBP2_uc010rbe.2_Missense_Mutation_p.P311S|PPFIBP2_uc001mfl.4_Missense_Mutation_p.P280S|PPFIBP2_uc009yfj.1_Missense_Mutation_p.P67S	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 2 (liprin beta 2) (PPFIBP2), mRNA.	423					DNA integration|cell communication	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GCACAAATATCCCACTTTACC	0.537000														114			79		0	0	0.00361006	0	0
LRP2	4036	broad.mit.edu	37	2	170131732	170131732	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:170131732C>T	uc002ues.3	-	13	2002	c.1789G>A	c.(1789-1791)Gga>Aga	p.G597R	LRP2_uc010zdf.1_Missense_Mutation_p.G528R	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	597					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGGGAGCCTCCATGAACTACA	0.358000														8			4		0	0	0.00024832	0	0
RELN	5649	broad.mit.edu	37	7	103301924	103301924	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:103301924G>A	uc022ajr.1	-	11	1500	c.1340C>T	c.(1339-1341)tCa>tTa	p.S447L	RELN_uc022ajq.1_Missense_Mutation_p.S447L|RELN_uc010liz.3_Missense_Mutation_p.S447L	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	447					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGATAAGCCTGATTCTATCGT	0.408000														31			13		0	0	0.00185496	0	0
TPSG1	25823	broad.mit.edu	37	16	1272781	1272781	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:1272781G>T	uc002ckw.2	-	3	384	c.382C>A	c.(382-384)Ctg>Atg	p.L128M		NM_012467	NP_036599	Q9NRR2	TRYG1_HUMAN	Homo sapiens tryptase gamma 1 (TPSG1), mRNA.	128	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			liver(1)|lung(2)|skin(1)	4		Hepatocellular(780;0.00369)				AGCTCCACCAGGGCGATGTCC	0.657000														17			7		5.4927e-09	1.24619e-08	0.000274275	1	0
PTX4	390667	broad.mit.edu	37	16	1535943	1535943	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:1535943G>A	uc010uvf.2	-	2	1419	c.1419C>T	c.(1417-1419)ccC>ccT	p.P473P		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	478						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CTCGGCCTCAGGGACAGCGTT	0.657000														11			4		0	0	0.000602214	0	0
HTR3C	170572	broad.mit.edu	37	3	183777792	183777792	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:183777792G>A	uc003fmk.3	+	7	1136	c.1102G>A	c.(1102-1104)Gga>Aga	p.G368R		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.	368						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	p.G368K(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GCCCCAGAAGGGAAATAAGGG	0.642000														15			4		0	0	0.00024832	0	0
SEMA4C	54910	broad.mit.edu	37	2	97530576	97530576	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:97530576G>A	uc002sxg.4	-	6	1218	c.987C>T	c.(985-987)acC>acT	p.T329T	SEMA4C_uc002sxf.4_5'Flank|SEMA4C_uc002sxe.3_5'Flank|SEMA4C_uc002sxh.4_Silent_p.T276T	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA.	276	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						TCAGGAACGTGGTCCACTTCC	0.677000														26			19		0	0	0.00229938	0	0
C11orf9	745	broad.mit.edu	37	11	61539312	61539312	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:61539312G>A	uc001nsc.1	+	6	1099	c.1003G>A	c.(1003-1005)Gac>Aac	p.D335N	C11orf9_uc001nse.1_Missense_Mutation_p.D326N	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	335					central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						CCTCCTGCAGGACAGTGACAG	0.617000														50			16		0	0	0.00316338	0	0
LPAR3	23566	broad.mit.edu	37	1	85331159	85331159	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:85331159C>T	uc001dkl.2	-	0	684	c.645G>A	c.(643-645)agG>agA	p.R215R	LPAR3_uc009wcj.1_Silent_p.R215R	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	215					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CGTTGGTTTTCCTCTTGACGT	0.502000														42			18		0	0	0.00188189	0	0
EPB41L2	2037	broad.mit.edu	37	6	131190962	131190962	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:131190962G>A	uc003qch.2	-	14	2530	c.2348C>T	c.(2347-2349)cCg>cTg	p.P783L	EPB41L2_uc003qce.1_Missense_Mutation_p.P161L|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc010kfl.2_Missense_Mutation_p.P713L|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc003qci.3_Missense_Mutation_p.P713L|EPB41L2_uc011eby.2_Intron|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc003qcd.1_5'Flank|EPB41L2_uc003qcj.1_Missense_Mutation_p.P180L	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	783					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTTGGCTGCCGGGCGGGGTTC	0.582000														68			51		0	0	0.00361006	0	0
ZNF518B	85460	broad.mit.edu	37	4	10445436	10445436	+	Silent	SNP	G	A	A	rs138229174		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:10445436G>A	uc003gmn.3	-	2	3004	c.2517C>T	c.(2515-2517)atC>atT	p.I839I	ZNF518B_uc021xme.1_Silent_p.I839I	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	839					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GAGGTGTCTCGATATTTGGGG	0.458000														108			36		0	0	0.00375469	0	0
OR52N5	390075	broad.mit.edu	37	11	5799834	5799834	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:5799834G>A	uc010qzn.2	-	0	64	c.31C>T	c.(31-33)Cca>Tca	p.P11S	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 5 (OR52N5), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TGAATTGTTGGAAACCAGCAT	0.358000														34			8		0	0	0.000274275	0	0
SOS1	6654	broad.mit.edu	37	2	39224440	39224440	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:39224440T>A	uc002rrk.4	-	17	2959	c.2918A>T	c.(2917-2919)cAg>cTg	p.Q973L	SOS1_uc002rrj.4_Missense_Mutation_p.Q587L	NM_005633	NP_005624	Q07889	SOS1_HUMAN	Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA.	973	Ras-GEF.				Ras protein signal transduction|apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	cytosol	DNA binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ATTTTGGTACTGCTGGATCTC	0.343000									Noonan syndrome					108			28		0	0	0.00127121	0	0
SLC5A12	159963	broad.mit.edu	37	11	26708086	26708086	+	Silent	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:26708086A>G	uc001mra.2	-	9	1472	c.1159T>C	c.(1159-1161)Tta>Cta	p.L387L	SLC5A12_uc001mrb.2_Non-coding_Transcript	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	387					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						ACGCCAAATAAGAGACCTGAA	0.453000														16			8		0	0	0.00307968	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21054322	21054322	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:21054322G>A	uc010sil.2	+	12	1851	c.1786G>A	c.(1786-1788)Gat>Aat	p.D596N	SLCO1B3_uc001rek.3_Missense_Mutation_p.D596N|SLCO1B3_uc001rel.3_Missense_Mutation_p.D596N|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	596					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.D596N(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GGCTCTGATTGATAAAACATG	0.378000														57			40		0	0	0.00321405	0	0
ADAM33	80332	broad.mit.edu	37	20	3655221	3655221	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:3655221C>T	uc002wit.3	-	5	617	c.530G>A	c.(529-531)gGa>gAa	p.G177E	ADAM33_uc002wir.1_Missense_Mutation_p.G177E|ADAM33_uc002wis.3_5'Flank|ADAM33_uc002wiu.3_Missense_Mutation_p.G177E|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_Missense_Mutation_p.G189E|ADAM33_uc010zqh.1_Missense_Mutation_p.G177E	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.	177					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GCCACAGGTTCCTTTCCAGGT	0.607000														85			45		0	0	0.00361006	0	0
HSPG2	3339	broad.mit.edu	37	1	22173852	22173852	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:22173852G>A	uc009vqd.3	-	61	8202	c.8162C>T	c.(8161-8163)cCc>cTc	p.P2721L	HSPG2_uc001bfj.3_Missense_Mutation_p.P2720L	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	2720	Ig-like C2-type 12.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CTCACCGGAGGGGCTGCCGGC	0.607000														19			23		0	0	0.00127121	0	0
MXRA5	25878	broad.mit.edu	37	X	3248158	3248158	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:3248158G>A	uc004crg.4	-	3	767	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	204						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGCATGTTCCGAAGCATGCTG	0.463000														6			12		0	0	0.00136819	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815708	23815708	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:23815708G>A	uc003gqs.3	-	7	1518	c.1398C>T	c.(1396-1398)ttC>ttT	p.F466F	PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	466					RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGGGATGACCGAAGTGCTTGT	0.488000														59			18		0	0	0.00074312	0	0
DSEL	92126	broad.mit.edu	37	18	65180090	65180090	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr18:65180090G>A	uc002lke.1	-	1	3010	c.1786C>T	c.(1786-1788)Cat>Tat	p.H596Y	DSEL_uc021ulg.1_Missense_Mutation_p.H596Y	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	586						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CTCTCAATATGATCAACAACT	0.358000														31			17		0	0	0.000566183	0	0
ZNF165	7718	broad.mit.edu	37	6	28056771	28056771	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:28056771G>A	uc021yro.1	+	3	1808	c.981G>A	c.(979-981)aaG>aaA	p.K327K	ZNF165_uc003nkh.3_Silent_p.K327K|ZNF165_uc003nki.4_Silent_p.K327K|ZSCAN12P1_uc003nkj.4_5'Flank	NM_003447	NP_003438	P49910	ZN165_HUMAN	Homo sapiens zinc finger protein 165 (ZNF165), mRNA.	327					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AATCTTTCAAGAGCCCAAAAC	0.368000														31			15		0	0	0.00244969	0	0
RASGRP3	25780	broad.mit.edu	37	2	33759402	33759402	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:33759402C>T	uc002rox.3	+	11	1723	c.1096C>T	c.(1096-1098)Ctc>Ttc	p.L366F	RASGRP3_uc010ync.2_Missense_Mutation_p.L366F|RASGRP3_uc002roy.3_Missense_Mutation_p.L366F	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	Homo sapiens RAS guanyl releasing protein 3 (calcium and DAG-regulated) (RASGRP3), transcript variant 2, mRNA.	366	Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TTCCCTGGACCTCTATCACAC	0.333000														21			4		0	0	0.00024832	0	0
MLL2	8085	broad.mit.edu	37	12	49434611	49434611	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:49434611G>A	uc001rta.4	-	30	6942	c.6942C>T	c.(6940-6942)acC>acT	p.T2314T		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2314	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CACCCAGGTGGGTGCCTGAGG	0.612000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				26			9		0	0	0.000442599	0	0
MYOT	9499	broad.mit.edu	37	5	137219247	137219247	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:137219247G>A	uc011cye.2	+	6	1008	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	MYOT_uc003lbv.3_Missense_Mutation_p.E331K|MYOT_uc011cyg.2_Missense_Mutation_p.E147K|MYOT_uc011cyh.2_Missense_Mutation_p.E216K	NM_001135940	NP_001129412	Q9UBF9	MYOTI_HUMAN	Homo sapiens myotilin (MYOT), transcript variant 2, mRNA.	331	Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle	p.G330R(1)		cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TAGAGCAGGAGAAGCCACCTT	0.423000														46			5		0	0	0.000602214	0	0
NEO1	4756	broad.mit.edu	37	15	73562426	73562426	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:73562426C>T	uc002avm.4	+	16	2762	c.2570C>T	c.(2569-2571)cCa>cTa	p.P857L	NEO1_uc010ukx.2_Missense_Mutation_p.P857L|NEO1_uc010uky.2_Missense_Mutation_p.P857L|NEO1_uc002avn.4_Missense_Mutation_p.P861L|NEO1_uc010ukz.2_Missense_Mutation_p.P281L	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	857	Fibronectin type-III 5.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						ATGATGCCACCAGTGGGAGTT	0.458000														163			73		0	0	0.00361006	0	0
POPDC2	64091	broad.mit.edu	37	3	119379156	119379156	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:119379156G>A	uc003ecx.1	-	0	249	c.115C>T	c.(115-117)Ctg>Ttg	p.L39L	POPDC2_uc010hqw.1_Silent_p.L39L|POPDC2_uc003ecy.1_Intron	NM_022135	NP_071418	Q9HBU9	POPD2_HUMAN	Homo sapiens popeye domain containing 2 (POPDC2), mRNA.	39						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		ATGAAGCCCAGGAGTAAGAGG	0.572000														31			9		0	0	0.000673444	0	0
HHIPL2	79802	broad.mit.edu	37	1	222712020	222712020	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:222712020C>T	uc001hnh.1	-	4	1605	c.1547G>A	c.(1546-1548)gGc>gAc	p.G516D		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	516					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.G516D(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GATATACAGGCCATTGAGATT	0.408000														369			87		0	0	0.00361006	0	0
TTC3	7267	broad.mit.edu	37	21	38525433	38525433	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:38525433C>T	uc002yvz.3	+	26	2701	c.2596C>T	c.(2596-2598)Cta>Tta	p.L866L	TTC3_uc011aee.1_Silent_p.L556L|TTC3_uc002ywa.3_Silent_p.L866L|TTC3_uc002ywb.3_Silent_p.L866L|TTC3_uc010gnf.3_Silent_p.L631L|TTC3_uc002ywc.3_Silent_p.L556L|TTC3_uc011aed.1_Silent_p.L556L	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	866					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CAGAAATTTTCTAAATGAAGC	0.353000														99			38		0	0	0.00111076	0	0
LRIF1	55791	broad.mit.edu	37	1	111493978	111493978	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:111493978T>C	uc001eaa.3	-	1	1784	c.1528A>G	c.(1528-1530)Ata>Gta	p.I510V	LRIF1_uc001dzz.3_Intron|LRIF1_uc001eab.3_Intron	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	Homo sapiens ligand dependent nuclear receptor interacting factor 1 (LRIF1), transcript variant 1, mRNA.	510					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						GAGGAACTTATTTTCTCTATG	0.403000														104			43		0	0	0.00361006	0	0
ESPNP	284729	broad.mit.edu	37	1	17029371	17029371	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:17029371G>A	uc001azn.1	-	5	995	c.881C>T	c.(880-882)cCc>cTc	p.P294L						Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		gggtggtgggggtatgggCTT	0.657000														2			6		0	0	0.00116845	0	0
TANC2	26115	broad.mit.edu	37	17	61432354	61432354	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:61432354C>T	uc002jal.4	+	11	1986	c.1963C>T	c.(1963-1965)Cta>Tta	p.L655L	TANC2_uc010wpe.2_Silent_p.L565L|TANC2_uc002jam.1_Silent_p.L22L	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	655							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AGGGTCCTATCTATATCTGAA	0.383000														76			41		0	0	0.0025221	0	0
WNT3A	89780	broad.mit.edu	37	1	228238512	228238512	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:228238512G>A	uc001hrp.2	+	2	576	c.469G>A	c.(469-471)Gag>Aag	p.E157K	WNT3A_uc001hrq.2_Missense_Mutation_p.E157K	NM_033131	NP_149122	P56704	WNT3A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3A (WNT3A), mRNA.	157					Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway|axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				TGGCTGTAGCGAGGACATCGA	0.652000														29			44		0	0	0.00361006	0	0
DEFB129	140881	broad.mit.edu	37	20	209998	209998	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:209998G>A	uc002wda.3	+	1	169	c.138G>A	c.(136-138)caG>caA	p.Q46Q		NM_080831	NP_543021	Q9H1M3	DB129_HUMAN	Homo sapiens defensin, beta 129 (DEFB129), mRNA.	46					defense response to bacterium	extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			AAGAGATACAGAAATGCAAGA	0.363000														33			21		0	0	0.00278032	0	0
PPP2R5E	5529	broad.mit.edu	37	14	63888727	63888727	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:63888727G>A	uc001xgd.1	-	3	1030	c.440C>T	c.(439-441)tCg>tTg	p.S147L	PPP2R5E_uc010tsf.1_Missense_Mutation_p.S71L|PPP2R5E_uc010tsg.1_Missense_Mutation_p.S71L|PPP2R5E_uc010tsh.1_Missense_Mutation_p.S147L|PPP2R5E_uc001xge.2_Missense_Mutation_p.S147L|PPP2R5E_uc001xgf.1_Non-coding_Transcript	NM_006246	NP_006237	Q16537	2A5E_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', epsilon isoform (PPP2R5E), mRNA.	147					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		GTGTGGCCACGATGCCTCAAG	0.373000														53			10		0	0	0.000673444	0	0
PPP1R10	5514	broad.mit.edu	37	6	30571928	30571928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:30571928C>T	uc003nqn.1	-	13	1917	c.1365G>A	c.(1363-1365)atG>atA	p.M455I	PPP1R10_uc010jsc.1_Missense_Mutation_p.M109I	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.	455	Interaction with WDR82 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|RNA binding|protein phosphatase inhibitor activity|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CCTTCTCCTCCATGTTATCAT	0.557000														94			57		0	0	0.00361006	0	0
DOCK1	1793	broad.mit.edu	37	10	129202694	129202694	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:129202694G>A	uc010qun.2	+	40	4186	c.4122_splice	c.e40+1	p.R1374_splice	DOCK1_uc001ljt.3_Splice_Site_p.R1353_splice|DOCK1_uc009yaq.3_Splice_Site_p.R348_splice	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	1353	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ATTCCTGCGGGTAAAGTTTGG	0.507000														12			4		0	0	0.000602214	0	0
FASN	2194	broad.mit.edu	37	17	80039891	80039892	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:80039891_80039892GG>AA	uc002kdu.3	-	35	6273_6274	c.6156_6157CC>TT	c.(6154-6159)ggcctc>ggTTtc	p.L2053F	FASN_uc002kdv.1_Non-coding_Transcript	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	2053	Beta-ketoacyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CCACCTGGGAGGCCTTCGTGCC	0.678000														21			10		0	0	6.4e-05	0	0
TRIP11	9321	broad.mit.edu	37	14	92466440	92466440	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:92466440C>T	uc001xzy.3	-	11	4944	c.4570G>A	c.(4570-4572)Gag>Aag	p.E1524K	TRIP11_uc010auf.2_Missense_Mutation_p.E1260K	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA.	1524					transcription from RNA polymerase II promoter	Golgi apparatus|cytoskeleton|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TGATTTAACTCTCCAGTCTTG	0.333000			T	PDGFRB	AML									39			6		0	0	0.00198382	0	0
TMEM127	55654	broad.mit.edu	37	2	96919815	96919815	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:96919815C>T	uc002svq.3	-	3	724	c.448G>A	c.(448-450)Gct>Act	p.A150T	TMEM127_uc002svr.3_Missense_Mutation_p.A150T	NM_017849	NP_060319	O75204	TM127_HUMAN	Homo sapiens transmembrane protein 127 (TMEM127), transcript variant 1, mRNA.	150					negative regulation of TOR signaling cascade|negative regulation of cell proliferation	cytoplasm|integral to membrane|plasma membrane				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						AGTTCAGAAGCCCAATAAGAA	0.527000														91			6		0	0	0.00116845	0	0
SALL1	6299	broad.mit.edu	37	16	51175015	51175015	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:51175015G>A	uc021tif.1	-	1	1149	c.827C>T	c.(826-828)tCg>tTg	p.S276L	SALL1_uc021tid.1_Missense_Mutation_p.S276L|SALL1_uc021tie.1_Missense_Mutation_p.S373L|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	373					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.R276Q(1)|p.R276*(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)			TGGTGAGGACGATGATGAGAC	0.512000														58			29		0	0	0.00106085	0	0
COL5A3	50509	broad.mit.edu	37	19	10099813	10099813	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:10099813G>A	uc002mmq.1	-	26	2218	c.2132C>T	c.(2131-2133)cCt>cTt	p.P711L		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	711	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CACTCCCCGAGGTCCAGGATA	0.542000														37			36		0	0	0.00285205	0	0
CLEC4C	170482	broad.mit.edu	37	12	7882210	7882210	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:7882210C>T	uc001qtg.1	-	5	798	c.624G>A	c.(622-624)atG>atA	p.M208I	CLEC4C_uc001qth.1_Missense_Mutation_p.M208I|CLEC4C_uc001qti.1_Missense_Mutation_p.M177I	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN	Homo sapiens C-type lectin domain family 4, member C (CLEC4C), transcript variant 1, mRNA.	208					innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		AGATCTTCTTCATCTTGCAAA	0.363000														37			26		0	0	0.000720815	0	0
DLGAP2	9228	broad.mit.edu	37	8	1626440	1626440	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:1626440G>A	uc003wpl.3	+	8	2206	c.2109G>A	c.(2107-2109)ctG>ctA	p.L703L	DLGAP2_uc003wpm.3_Silent_p.L689L	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	782					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ACCTGGAGCTGGAGGGGTTCC	0.602000														33			17		0	0	0.000566183	0	0
CAPN9	10753	broad.mit.edu	37	1	230898473	230898473	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:230898473C>T	uc001htz.1	+	3	590	c.477C>T	c.(475-477)ttC>ttT	p.F159F	CAPN9_uc009xfg.1_Silent_p.F96F|CAPN9_uc001hua.1_Silent_p.F159F	NM_006615	NP_006606	O14815	CAN9_HUMAN	Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA.	159	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GCTTGGTTTTCCTCCACTCTG	0.582000														34			37		0	0	0.000953801	0	0
EFCAB6	64800	broad.mit.edu	37	22	43972186	43972186	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:43972186G>A	uc003bdy.2	-	25	3725	c.3411C>T	c.(3409-3411)ttC>ttT	p.F1137F	EFCAB6_uc003bdz.2_Silent_p.F985F|EFCAB6_uc010gzi.2_Silent_p.F985F|EFCAB6_uc010gzj.1_Silent_p.F363F	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CCTCCTCAAGGAAACAGCTAA	0.313000														51			27		0	0	0.001512	0	0
CLCA4	22802	broad.mit.edu	37	1	87025615	87025615	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:87025615G>A	uc009wcs.3	+	2	204	c.160_splice	c.e2-1	p.D54_splice	CLCA4_uc009wct.3_Splice_Site|CLCA4_uc009wcu.3_Splice_Site	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	54						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TTAATGACAGGATATGGTGAC	0.348000														111			61		0	0	0.00361006	0	0
SNAP91	9892	broad.mit.edu	37	6	84284828	84284828	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:84284828C>T	uc021zcf.1	-	24	2373	c.2343G>A	c.(2341-2343)caG>caA	p.Q781Q	SNAP91_uc011dzd.2_Silent_p.Q279Q|SNAP91_uc003pka.3_Silent_p.Q779Q|SNAP91_uc011dze.2_Silent_p.Q779Q|SNAP91_uc003pkc.3_Silent_p.Q751Q|SNAP91_uc003pkd.3_Silent_p.Q474Q|SNAP91_uc003pkb.3_Silent_p.Q690Q	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	781					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CAGCATTCCACTGAAGATCTC	0.428000														9			4		0	0	0.00024832	0	0
CRP	1401	broad.mit.edu	37	1	159683763	159683763	+	Missense_Mutation	SNP	C	T	T	rs151273324		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:159683763C>T	uc001ftw.3	-	1	331	c.227G>A	c.(226-228)aGa>aAa	p.R76K	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_5'Flank	NM_000567	NP_000558	P02741	CRP_HUMAN	Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA.	76	Pentaxin.			YSIFSYATKRQDNEIL -> TVFSRMPPRDKTMRFF (in Ref. 4; CAA39671).	acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	ATTGTCTTGTCTCTTGGTGGC	0.448000														65			72		0	0	0.00361006	0	0
POP1	10940	broad.mit.edu	37	8	99170302	99170302	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:99170302T>A	uc003yij.4	+	15	2978	c.2878T>A	c.(2878-2880)Tcc>Acc	p.S960T	POP1_uc011lgv.2_Missense_Mutation_p.S960T|POP1_uc003yik.3_Missense_Mutation_p.S960T	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	960					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GTTGCACTGCTCCAGAACTCT	0.587000														96			43		0	0	0.00361006	0	0
FCGBP	8857	broad.mit.edu	37	19	40368805	40368805	+	Silent	SNP	C	T	T	rs140207614		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:40368805C>T	uc002omp.4	-	27	12551	c.12543G>A	c.(12541-12543)tcG>tcA	p.S4181S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4181	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCAGTGCCTTCGATGCACCCT	0.622000														185			50		0	0	0.00361006	0	0
TTBK1	84630	broad.mit.edu	37	6	43225648	43225648	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:43225648C>T	uc003ouq.1	+	9	1239	c.960C>T	c.(958-960)tcC>tcT	p.S320S		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	320						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCCTCCTGTCCACGAGCACCT	0.602000														51			16		0	0	0.000566183	0	0
DGKQ	1609	broad.mit.edu	37	4	955780	955780	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:955780A>G	uc003gbw.3	-	18	2379	c.2305T>C	c.(2305-2307)Ttc>Ctc	p.F769L	DGKQ_uc010ibn.3_Missense_Mutation_p.F756L	NM_001347	NP_001338	P52824	DGKQ_HUMAN	Homo sapiens diacylglycerol kinase, theta 110kDa (DGKQ), mRNA.	769					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	ATP binding|activating transcription factor binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTGCTTGTGAACTTGCCAGGC	0.632000														134			35		0	0	0.00148497	0	0
KIAA1429	25962	broad.mit.edu	37	8	95518884	95518884	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:95518884G>A	uc003ygo.2	-	15	4012	c.3941C>T	c.(3940-3942)tCc>tTc	p.S1314F	KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	1314					RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TAGAGAATTGGAGAGCTGCTC	0.398000														56			37		0	0	0.00148497	0	0
BPIFA2	140683	broad.mit.edu	37	20	31760863	31760863	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:31760863A>G	uc002wyo.1	+	2	354	c.283A>G	c.(283-285)Act>Gct	p.T95A		NM_080574	NP_542141	Q96DR5	SPLC2_HUMAN	Homo sapiens BPI fold containing family A, member 2 (BPIFA2), mRNA.	95						extracellular region	lipid binding										GCTGCTTCCAACTAACACGGA	0.448000														96			4		0	0	0.00024832	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110408291	110408291	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:110408291C>T	uc003yne.3	+	10	951	c.847C>T	c.(847-849)Cga>Tga	p.R283*		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	283	IPT/TIG 3.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGGAAGCATTCGAGGTGGCAC	0.388000										HNSCC(38;0.096)				7			3		0	0	0.000602214	0	0
YAP1	10413	broad.mit.edu	37	11	102033193	102033193	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:102033193C>T	uc001pgt.3	+	2	967	c.579C>T	c.(577-579)atC>atT	p.I193I	YAP1_uc001pgu.3_Silent_p.I193I|YAP1_uc001pgv.3_Silent_p.I193I|YAP1_uc021qpf.1_Silent_p.I193I|YAP1_uc010ruo.2_Silent_p.I15I|YAP1_uc001pgw.2_Silent_p.I15I	NM_001130145	NP_001181974	P46937	YAP1_HUMAN	Homo sapiens Yes-associated protein 1 (YAP1), transcript variant 1, mRNA.	193	WW 1.				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		TTAGTCACATCGATCAGACAA	0.473000														166			6		0	0	0.00116845	0	0
SAMD9	54809	broad.mit.edu	37	7	92731710	92731710	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:92731710C>T	uc003umf.3	-	2	3971	c.3701G>A	c.(3700-3702)gGa>gAa	p.G1234E	SAMD9_uc003umg.3_Missense_Mutation_p.G1234E|SAMD9_uc022ahg.1_Missense_Mutation_p.G1234E	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1234						cytoplasm		p.G1234V(2)|p.G1234*(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATCACTACTTCCTGATACAAA	0.294000														100			42		0	0	0.00285205	0	0
OR52L1	338751	broad.mit.edu	37	11	6007616	6007616	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:6007616C>T	uc001mcd.2	-	0	600	c.545G>A	c.(544-546)gGa>gAa	p.G182E		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATAAGTTTTCCCAACAAAAT	0.493000														38			22		0	0	0.00188189	0	0
ROR2	4920	broad.mit.edu	37	9	94487000	94487000	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:94487000G>A	uc004arj.2	-	8	1975	c.1776C>T	c.(1774-1776)ttC>ttT	p.F592F	ROR2_uc004ari.1_Silent_p.F452F	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	592	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity	p.F592F(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CAAGGTGCACGAAGTCGGGGG	0.637000														8			22		0	0	0.00152264	0	0
ETS2	2114	broad.mit.edu	37	21	40191655	40191655	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:40191655C>T	uc002yxf.3	+	8	1500	c.1460C>T	c.(1459-1461)cCa>cTa	p.P487L	ETS2_uc002yxg.3_Missense_Mutation_p.P347L	NM_005239	NP_005230	P15036	ETS2_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 2 (avian) (ETS2), transcript variant 1, mRNA.	347					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				CAAGGCAAACCAGTTATACCT	0.552000														12			6		0	0	0.00116845	0	0
POU2F2	5452	broad.mit.edu	37	19	42596305	42596305	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:42596305G>A	uc002osp.3	-	12	1378	c.1316C>T	c.(1315-1317)cCc>cTc	p.P439L	POU2F2_uc002osn.3_Missense_Mutation_p.P423L|POU2F2_uc002osq.3_Intron|POU2F2_uc002osr.2_Missense_Mutation_p.P439L	NM_001207025	NP_001193954	P09086	PO2F2_HUMAN	Homo sapiens POU class 2 homeobox 2 (POU2F2), transcript variant 1, mRNA.	439					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				GGTGGCCGGGGGTGGGGGAGT	0.701000														13			11		0	0	0.00136819	0	0
AMPD1	270	broad.mit.edu	37	1	115218600	115218600	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:115218600G>A	uc001efe.2	-	10	1560	c.1512C>T	c.(1510-1512)ttC>ttT	p.F504F	AMPD1_uc001eff.2_Silent_p.F500F	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	471					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AATGTGGAAGGAAATTCTTGG	0.438000														98			40		0	0	0.00361006	0	0
HIVEP1	3096	broad.mit.edu	37	6	12123120	12123120	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:12123120G>A	uc003nac.3	+	3	3271	c.3092G>A	c.(3091-3093)aGg>aAg	p.R1031K	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	1031					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ATAAGAAAAAGGAGGAAAATG	0.498000														78			44		0	0	0.00321405	0	0
TTN	7273	broad.mit.edu	37	2	179602934	179602934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:179602934C>T	uc021vsy.1	-	45	10739	c.10514G>A	c.(10513-10515)cGa>cAa	p.R3505Q	TTN_uc021vsz.1_Missense_Mutation_p.R4578Q|TTN_uc021vta.1_Missense_Mutation_p.R4511Q|TTN_uc021vtb.1_Missense_Mutation_p.R4386Q|TTN_uc002umz.1_Missense_Mutation_p.R166Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4432	Ig-like 21.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R4386Q(1)|p.R3505Q(1)|p.R4511Q(1)|p.R4578Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTGAAGATCGAATAGAACA	0.463000														13			7		0	0	0.00307968	0	0
NID1	4811	broad.mit.edu	37	1	236192896	236192896	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:236192896G>A	uc001hxo.3	-	6	1794	c.1692C>T	c.(1690-1692)tcC>tcT	p.S564S	NID1_uc009xgd.3_Silent_p.S564S	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	564	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CAATGTGCACGGAGGAGCCGA	0.642000														14			6		0	0	0.00116845	0	0
FBLN2	2199	broad.mit.edu	37	3	13659748	13659748	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:13659748C>T	uc011avc.2	+	5	2284	c.1902C>T	c.(1900-1902)ggC>ggT	p.G634G	FBLN2_uc011auz.2_Silent_p.G660G|FBLN2_uc011avb.2_Silent_p.G634G|FBLN2_uc011ava.2_Silent_p.G634G	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	634	EGF-like 1; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GCTTTCCTGGCTTCTCACTGC	0.622000														50			21		0	0	0.00188189	0	0
LOC284009	284009	broad.mit.edu	37	17	2317704	2317704	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:2317704G>A	uc002fus.3	-	1	311	c.232C>T	c.(232-234)Cca>Tca	p.P78S						Homo sapiens uncharacterized LOC284009 (LOC284009), non-coding RNA.																		gcaaggaatggaactggacgg	0.517000														33			25		0	0	0.00106085	0	0
CUL5	8065	broad.mit.edu	37	11	107920788	107920788	+	Nonsense_Mutation	SNP	C	T	T	rs138143013		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:107920788C>T	uc001pjv.3	+	3	1073	c.406C>T	c.(406-408)Cga>Tga	p.R136*	CUL5_uc001pju.3_Non-coding_Transcript	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Homo sapiens cullin 5 (CUL5), mRNA.	136					G1/S transition of mitotic cell cycle|cell cycle arrest|cell proliferation|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		CAGTATTGTTCGAAAGGTAAG	0.308000														34			23		0	0	0.00332997	0	0
TTN	7273	broad.mit.edu	37	2	179468902	179468902	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:179468902C>T	uc021vsy.1	-	230	47033	c.46808G>A	c.(46807-46809)gGa>gAa	p.G15603E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G9298E|TTN_uc021vta.1_Missense_Mutation_p.G9231E|TTN_uc021vtb.1_Missense_Mutation_p.G9106E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16530							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTGGTTTTCCTGGAGGTCC	0.468000														16			10		0	0	0.000442599	0	0
SGSH	6448	broad.mit.edu	37	17	78184718	78184718	+	Missense_Mutation	SNP	G	A	A	rs146494740		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:78184718G>A	uc002jxz.4	-	7	1129	c.1042C>T	c.(1042-1044)Ctc>Ttc	p.L348F	SGSH_uc002jya.4_Missense_Mutation_p.L145F|SGSH_uc002jxy.2_3'UTR	NM_000199	NP_000190	P51688	SPHM_HUMAN	Homo sapiens N-sulfoglucosamine sulfohydrolase (SGSH), mRNA.	348					proteoglycan metabolic process	lysosome	N-sulfoglucosamine sulfohydrolase activity|metal ion binding|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCCGGCAGGAGGGACCGGCCA	0.647000														48			30		0	0	0.00178596	0	0
TTN	7273	broad.mit.edu	37	2	179579257	179579257	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:179579257G>A	uc021vsy.1	-	87	22737	c.22512C>T	c.(22510-22512)gtC>gtT	p.V7504V	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.V4165V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8431	Ig-like 57.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V7504V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTACCAACGACAGTAGATA	0.423000														10			4		0	0	0.00024832	0	0
MUC16	94025	broad.mit.edu	37	19	9046526	9046526	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:9046526G>A	uc002mkp.3	-	4	35309	c.35105C>T	c.(35104-35106)tCc>tTc	p.S11702F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11704	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTTGTTCTGGAAACAGGTGT	0.507000														67			18		0	0	0.00121646	0	0
PRKCA	5578	broad.mit.edu	37	17	64734896	64734896	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:64734896C>T	uc002jfo.1	+	11	1350	c.858C>T	c.(856-858)ttC>ttT	p.F286F	PRKCA_uc002jfp.1_Silent_p.F415F			P17252	KPCA_HUMAN	Homo sapiens protein kinase C, alpha (PRKCA), mRNA.	415					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	GGCTGTACTTCGTCATGGAAT	0.463000														56			39		0	0	0.00361006	0	0
VIPR2	7434	broad.mit.edu	37	7	158896490	158896490	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:158896490G>A	uc003woh.3	-	3	501	c.315C>T	c.(313-315)ttC>ttT	p.F105F	VIPR2_uc010lqx.3_Non-coding_Transcript|VIPR2_uc010lqy.3_Non-coding_Transcript	NM_003382	NP_003373	P41587	VIPR2_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 2 (VIPR2), mRNA.	105					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		AGGCATCGACGAAATCTGGGA	0.498000														48			25		0	0	0.000878237	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52002945	52002945	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:52002945G>A	uc002pwx.1	-	2	890	c.834C>T	c.(832-834)tcC>tcT	p.S278S	SIGLEC12_uc002pww.1_Silent_p.S160S|SIGLEC12_uc010eoy.1_Silent_p.S5S	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	278	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TCCCCGGGATGGAGAAGGTGG	0.632000														38			30		0	0	0.00428921	0	0
HEPACAM	220296	broad.mit.edu	37	11	124793282	124793282	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:124793282G>A	uc001qbk.3	-	3	1163	c.757C>T	c.(757-759)Ctt>Ttt	p.L253F	HEPACAM_uc009zbj.3_5'UTR|HEPACAM_uc001qbl.1_Missense_Mutation_p.L253F	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN	Homo sapiens hepatic and glial cell adhesion molecule (HEPACAM), mRNA.	253					cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		AAGGTCACAAGGAGGAAGATG	0.517000														45			31		0	0	0.00283554	0	0
DONSON	29980	broad.mit.edu	37	21	35275880	35275880	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:35275880C>A	uc002ytl.3	-	6	683	c.592G>T	c.(592-594)Gtc>Ttc	p.V198F	DONSON_uc002ysn.1_Intron	NM_001697	NP_001688	Q9NYP3	DONS_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit (ATP5O), nuclear gene encoding mitochondrial protein, mRNA.	0					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						TTGGTCTTGACAGACATGTCA	0.433000														35			13		9.16793e-09	2.0791e-08	0.000566183	1	0
FCGBP	8857	broad.mit.edu	37	19	40364281	40364281	+	Silent	SNP	T	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:40364281T>A	uc002omp.4	-	30	14369	c.14361A>T	c.(14359-14361)gtA>gtT	p.V4787V		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4787	TIL 11.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGCCCACGGGTACGCAGGTGT	0.657000														34			17		0	0	0.00188189	0	0
FREM1	158326	broad.mit.edu	37	9	14859208	14859208	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:14859208G>A	uc003zlm.3	-	4	1420	c.604C>T	c.(604-606)Cag>Tag	p.Q202*	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	202					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.Q202*(2)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTGTGTGGCTGATCTCCACGA	0.517000														21			16		0	0	0.00074312	0	0
RANBP2	5903	broad.mit.edu	37	2	109382703	109382703	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:109382703C>T	uc002tem.4	+	19	5834	c.5708C>T	c.(5707-5709)tCg>tTg	p.S1903L		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	1903					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTTGGCATTTCGGAACCAGGA	0.408000														81			76		0	0	0.00361006	0	0
LOC646214	646214	broad.mit.edu	37	15	21936663	21936663	+	RNA	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:21936663G>A	uc010tzj.1	-	0		c.4077C>T								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		TAATTCTTTGGCTGAACCCCT	0.398000														117			14		0	0	0.00244969	0	0
PREX2	80243	broad.mit.edu	37	8	69020509	69020509	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:69020509C>T	uc003xxv.1	+	23	2908	c.2881C>T	c.(2881-2883)Cag>Tag	p.Q961*	PREX2_uc011lez.1_Nonsense_Mutation_p.Q896*	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	961					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATTTGGTGTTCAGTTGGATAG	0.393000														14			8		0	0	0.000274275	0	0
TSIX	9383	broad.mit.edu	37	X	73045103	73045103	+	RNA	SNP	C	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:73045103C>A	uc004ebn.2	+	0		c.33064C>A			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		GCAGCAAACACAAATTGGCCT	0.299000														13			22		5.26018e-13	1.19935e-12	0.00188189	1	0
SERPINA11	256394	broad.mit.edu	37	14	94914675	94914675	+	Missense_Mutation	SNP	C	T	T	rs113919455	byFrequency	TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:94914675C>T	uc001ydd.1	-	1	497	c.437G>A	c.(436-438)cGa>cAa	p.R146Q		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	146					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		AGGCTTTAGTCGCTTGTCTAG	0.527000														158			45		0	0	0.0025221	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033001	82033001	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:82033001G>A	uc002fgu.3	-	2	1025	c.897C>T	c.(895-897)ttC>ttT	p.F299F		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	299					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GACCCAAAATGAAGTGAACCA	0.483000														51			23		0	0	0.00188189	0	0
C14orf105	55195	broad.mit.edu	37	14	57960304	57960304	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:57960304A>G	uc010trl.1	-	0	273	c.130T>C	c.(130-132)Tca>Cca	p.S44P	C14orf105_uc001xcy.2_Missense_Mutation_p.S44P|C14orf105_uc010trm.1_5'UTR|C14orf105_uc010trn.1_5'UTR|C14orf105_uc001xcz.2_Missense_Mutation_p.S44P|C14orf105_uc010aox.1_Non-coding_Transcript|C14orf105_uc010aoy.2_5'UTR	NM_018168	NP_060638	Q9NVL8	CN105_HUMAN	Homo sapiens chromosome 14 open reading frame 105 (C14orf105), mRNA.	44										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						AGTGAATATGAAGTCTTTTCT	0.443000														21			4		0	0	0.000602214	0	0
PKD1L1	168507	broad.mit.edu	37	7	47866967	47866967	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:47866967G>A	uc003tny.2	-	44	6869	c.6835C>T	c.(6835-6837)Cgc>Tgc	p.R2279C	C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_Missense_Mutation_p.R6C	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2279					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCCCGTGTGCGACTCTCTCTC	0.667000														32			17		0	0	0.00152264	0	0
HDGFRP3	50810	broad.mit.edu	37	15	83820057	83820057	+	Silent	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:83820057T>C	uc002bjs.1	-	4	671	c.516A>G	c.(514-516)aaA>aaG	p.K172K		NM_016073	NP_057157	Q9Y3E1	HDGR3_HUMAN	Homo sapiens hepatoma-derived growth factor, related protein 3 (HDGFRP3), mRNA.	172					cell proliferation	nucleus	growth factor activity			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						TTTCCTCTTCTTTGCAGTCTT	0.408000														59			27		0	0	0.00106085	0	0
FBLIM1	54751	broad.mit.edu	37	1	16101277	16101277	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:16101277G>A	uc001axd.1	+	7	1319	c.876G>A	c.(874-876)ctG>ctA	p.L292L	FBLIM1_uc001axe.1_Silent_p.L292L|FBLIM1_uc001axg.1_Silent_p.L292L|FBLIM1_uc001axh.1_Silent_p.L195L|FBLIM1_uc001axi.1_Silent_p.L195L	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript variant 1, mRNA.	292	LIM zinc-binding 2.|PLEKHC1-binding.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		TGTACTGCCTGGACGACTTCT	0.622000														49			50		0	0	0.00361006	0	0
NAA16	79612	broad.mit.edu	37	13	41933026	41933026	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:41933026C>T	uc001uyf.2	+	11	1662	c.1338C>T	c.(1336-1338)tcC>tcT	p.S446S	NAA16_uc010tfg.1_Non-coding_Transcript	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	Homo sapiens N(alpha)-acetyltransferase 16, NatA auxiliary subunit (NAA16), transcript variant 1, mRNA.	446					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TCATCAATTCCAAATGTGCAA	0.373000														52			51		0	0	0.00361006	0	0
UGT2B7	7364	broad.mit.edu	37	4	69972921	69972921	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:69972921C>T	uc003heg.4	+	3	1077	c.1031C>T	c.(1030-1032)cCa>cTa	p.P344L	UGT2B7_uc010ihq.3_Missense_Mutation_p.P344L	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	344					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGAATAAACCAGATACCTTA	0.348000														20			23		0	0	0.00332997	0	0
SLC39A11	201266	broad.mit.edu	37	17	71080986	71080986	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:71080986C>T	uc002jjb.3	-	3	224	c.109_splice	c.e3-1	p.R37_splice	SLC39A11_uc002jja.3_Splice_Site_p.R37_splice	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN	Homo sapiens solute carrier family 39 (metal ion transporter), member 11 (SLC39A11), transcript variant 1, mRNA.	37					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						AGATCCGCCTCTGAAAATCAA	0.418000														43			18		0	0	0.00121646	0	0
RNF17	56163	broad.mit.edu	37	13	25353861	25353861	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:25353861C>T	uc001upr.3	+	4	527	c.486C>T	c.(484-486)ttC>ttT	p.F162F	RNF17_uc010tdd.1_Silent_p.F21F|RNF17_uc010tde.2_Silent_p.F162F|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Silent_p.F101F|RNF17_uc001upq.1_Silent_p.F162F	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	162					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ACCATAGTTTCGAACAGTTAA	0.348000														30			18		0	0	0.00074312	0	0
MLXIP	22877	broad.mit.edu	37	12	122611827	122611827	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:122611827G>A	uc001ubq.3	+	1	546	c.438G>A	c.(436-438)tgG>tgA	p.W146*	MLXIP_uc001ubr.3_5'Flank	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	Homo sapiens MLX interacting protein (MLXIP), mRNA.	146	Required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CTCCAAAGTGGAAGAATTTCA	0.512000											OREG0022217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		12			7		0	0	0.000673444	0	0
SLC26A2	1836	broad.mit.edu	37	5	149360048	149360048	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:149360048C>T	uc003lrh.3	+	2	1160	c.892C>T	c.(892-894)Cat>Tat	p.H298Y		NM_000112	NP_000103	P50443	S26A2_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 2 (SLC26A2), mRNA.	298						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CAGAAACATCCATAAGACCAA	0.438000														43			24		0	0	0.00395357	0	0
SEPP1	6414	broad.mit.edu	37	5	42804856	42804856	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:42804856G>A	uc011cps.2	-	4	624	c.526C>T	c.(526-528)Cat>Tat	p.H176Y	SEPP1_uc011cpt.2_Missense_Mutation_p.H146Y|SEPP1_uc011cpu.2_Missense_Mutation_p.H146Y|SEPP1_uc003jna.3_Non-coding_Transcript	NM_001093726		P49908	SEPP1_HUMAN	Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA.	146					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						AAACCAAGATGATATACAAGA	0.368000														19			19		0	0	0.00121646	0	0
VCP	7415	broad.mit.edu	37	9	35065361	35065361	+	Missense_Mutation	SNP	G	A	A	rs121909330		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:35065361G>A	uc003zvy.2	-	4	852	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C	VCP_uc010mkh.1_5'UTR|VCP_uc010mki.1_Missense_Mutation_p.R110C	NM_007126	NP_009057	P55072	TERA_HUMAN	Homo sapiens valosin containing protein (VCP), mRNA.	155			R -> C (in IBMPFD; also in one patient without evidence of Paget disease of the bone).|R -> H (in IBMPFD; strongly reduced affinity for ADP and increased affinity for ATP).|R -> P (in IBMPFD).		ER-associated protein catabolic process|activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ATCCCACCACGGACAAGAAAA	0.493000														31			12		0	0	0.00185496	0	0
TPCN2	219931	broad.mit.edu	37	11	68825141	68825141	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:68825141C>T	uc001oos.2	+	4	641	c.525C>T	c.(523-525)tcC>tcT	p.S175S	TPCN2_uc009ysk.1_Non-coding_Transcript|TPCN2_uc001oor.2_Silent_p.S90S|TPCN2_uc010rqg.1_Silent_p.S175S|TPCN2_uc021qmo.1_Non-coding_Transcript	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	Homo sapiens two pore segment channel 2 (TPCN2), mRNA.	175					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGACCGTGTCCCTGAGTCTCG	0.607000														39			9		0	0	0.000673444	0	0
INTS8	55656	broad.mit.edu	37	8	95850803	95850803	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:95850803C>T	uc003yhb.3	+	7	1100	c.974C>T	c.(973-975)cCa>cTa	p.P325L	INTS8_uc003yha.1_Missense_Mutation_p.P325L|INTS8_uc011lgq.2_Non-coding_Transcript|INTS8_uc011lgr.2_Non-coding_Transcript|INTS8_uc010mba.3_Missense_Mutation_p.P152L	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	Homo sapiens integrator complex subunit 8 (INTS8), mRNA.	325					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					CAGTTGACTCCATATAGTCAA	0.408000														431			197		0	0	0.00361006	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153276335	153276335	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:153276335T>C	uc001fbn.1	-	3	580	c.527A>G	c.(526-528)aAg>aGg	p.K176R		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA.	176					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGTCTTACCCTTCCTGGGCAT	0.532000														80			32		0	0	0.00128727	0	0
MST1P2	11209	broad.mit.edu	37	1	16975987	16975987	+	RNA	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:16975987C>T	uc010och.2	+	10		c.2009C>T			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		TGTGGGCCCTCAGGCTCTCAG	0.612000														42			14		0	0	0.00244969	0	0
DHTKD1	55526	broad.mit.edu	37	10	12129721	12129721	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:12129721C>T	uc001ild.4	+	3	809	c.710C>T	c.(709-711)cCt>cTt	p.P237L		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.	237					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CTGCAGTTCCCTCCAGAGGTA	0.448000														161			77		0	0	0.00361006	0	0
STK33	65975	broad.mit.edu	37	11	8478967	8478967	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:8478967C>T	uc001mgi.1	-	4	1537	c.618G>A	c.(616-618)agG>agA	p.R206R	STK33_uc001mgj.1_Silent_p.R206R|STK33_uc001mgk.1_Silent_p.R206R|STK33_uc010rbn.1_Silent_p.R165R|STK33_uc001mgl.3_Silent_p.R19R|STK33_uc009yfp.3_Intron	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	Homo sapiens serine/threonine kinase 33 (STK33), mRNA.	206	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		AATGCCCTTTCCTATCCAGAA	0.373000														41			12		0	0	0.00400662	0	0
LRIT2	340745	broad.mit.edu	37	10	85984123	85984123	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:85984123C>T	uc010qmc.2	-	1	866	c.858G>A	c.(856-858)tgG>tgA	p.W286*	LRIT2_uc001kcy.3_Nonsense_Mutation_p.W286*	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	286	Ig-like.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GGGGATAAGTCCATGCAATGG	0.537000														27			9		0	0	0.000442599	0	0
AMBRA1	55626	broad.mit.edu	37	11	46564472	46564472	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:46564472C>T	uc001ncv.2	-	7	1139	c.825G>A	c.(823-825)ctG>ctA	p.L275L	AMBRA1_uc010rgt.1_5'UTR|AMBRA1_uc009ylc.1_Silent_p.L365L|AMBRA1_uc001ncu.1_Silent_p.L275L|AMBRA1_uc010rgu.1_Silent_p.L365L|AMBRA1_uc001ncw.2_Silent_p.L275L|AMBRA1_uc001ncx.2_Silent_p.L365L	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	365	Poly-Pro.				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		p.L274F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		ACGGCCGGTTCAGGAGGCCCT	0.627000														109			36		0	0	0.00285205	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144060386	144060387	+	Missense_Mutation	DNP	AG	TA	TA			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:144060386_144060387AG>TA	uc003wel.3	+	1	742_743	c.624_625AG>TA	c.(622-627)gaagag>gaTAag	p.208_209EE>DK	ARHGEF5_uc003wek.3_Missense_Mutation_p.208_209EE>DK	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	208					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding	p.E208K(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GGCAGGGGGAAGAGCTGCCACC	0.550000														362			60		0	0	6.4e-05	0	0
ESF1	51575	broad.mit.edu	37	20	13756650	13756650	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:13756650G>A	uc002woj.3	-	2	1012	c.904C>T	c.(904-906)Ctt>Ttt	p.L302F	ESF1_uc002wok.1_Missense_Mutation_p.L302F	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	Homo sapiens ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) (ESF1), mRNA.	302	Asp-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						CCCCTTGCAAGATCAGGGCCA	0.418000														95			54		0	0	0.00361006	0	0
PDE1C	5137	broad.mit.edu	37	7	31864483	31864483	+	Silent	SNP	C	T	T	rs140362011		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:31864483C>T	uc003tcm.2	-	12	1865	c.1404G>A	c.(1402-1404)tcG>tcA	p.S468S	PDE1C_uc003tcn.1_Silent_p.S468S|PDE1C_uc003tco.2_Silent_p.S528S|PDE1C_uc003tcr.3_Silent_p.S468S|PDE1C_uc003tcs.3_Silent_p.S468S	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	468	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.S468S(5)|p.S468*(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CCACTGACCTCGAACGCCTCT	0.507000														21			15		0	0	0.00244969	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20868116	20868116	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:20868116C>T	uc010sii.2	+	6	928	c.573C>T	c.(571-573)ttC>ttT	p.F191F	SLCO1C1_uc010sij.2_Intron|SLCO1C1_uc009zip.3_Silent_p.F25F|SLCO1C1_uc001rei.3_Silent_p.F191F|SLCO1C1_uc010sik.2_Silent_p.F73F	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	191					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TTTATGTTTTCCTGGGCAATC	0.398000														89			60		0	0	0.00361006	0	0
EDEM3	80267	broad.mit.edu	37	1	184663275	184663275	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:184663275G>A	uc010pom.2	-	20	3030	c.2769C>T	c.(2767-2769)gtC>gtT	p.V923V	EDEM3_uc010pok.2_Silent_p.V907V|EDEM3_uc010pol.2_Non-coding_Transcript	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 3 (EDEM3), mRNA.	907					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTATAGGCTGGACCTTTTTAC	0.373000														14			17		0	0	0.00400662	0	0
NR1I3	9970	broad.mit.edu	37	1	161203020	161203020	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:161203020G>T	uc001fzx.3	-	3	550	c.347C>A	c.(346-348)aCa>aAa	p.T116K	TOMM40L_uc009wuf.2_Intron|NR1I3_uc021pbw.1_Missense_Mutation_p.T116K|NR1I3_uc001fzm.3_Missense_Mutation_p.T41K|NR1I3_uc001fzn.3_Intron|NR1I3_uc001fzf.3_Missense_Mutation_p.T116K|NR1I3_uc009wug.3_Intron|NR1I3_uc001fzo.3_Intron|NR1I3_uc001fzt.3_Intron|NR1I3_uc001fzs.3_Intron|NR1I3_uc001fzr.3_Intron|NR1I3_uc001fzq.3_Intron|NR1I3_uc001fzv.3_Intron|NR1I3_uc001fzu.3_Intron|NR1I3_uc001fzy.3_Missense_Mutation_p.T116K|NR1I3_uc001fzw.3_Missense_Mutation_p.T116K|NR1I3_uc001fzz.3_Missense_Mutation_p.T116K|NR1I3_uc001fzh.3_Missense_Mutation_p.T87K|NR1I3_uc001gab.3_Missense_Mutation_p.T116K|NR1I3_uc001gac.3_Missense_Mutation_p.T87K|NR1I3_uc001fzp.3_Missense_Mutation_p.T116K|NR1I3_uc001fzg.3_Missense_Mutation_p.T87K|NR1I3_uc001gaa.3_Missense_Mutation_p.T116K|NR1I3_uc001fzj.3_Missense_Mutation_p.T87K|NR1I3_uc001fzi.3_Missense_Mutation_p.T87K|NR1I3_uc001fzl.3_Missense_Mutation_p.T87K|NR1I3_uc001fzk.3_Missense_Mutation_p.T87K|NR1I3_uc010pkm.2_Missense_Mutation_p.T87K|NR1I3_uc010pkn.1_Missense_Mutation_p.T116K	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	Homo sapiens nuclear receptor subfamily 1, group I, member 3 (NR1I3), transcript variant 2, mRNA.	116					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCCCAGGAGTGTCCGGATCAG	0.567000														157			30		1.75199e-13	3.99822e-13	0.00127121	1	0
DSP	1832	broad.mit.edu	37	6	7580111	7580111	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:7580111G>A	uc003mxp.1	+	22	3967	c.3688G>A	c.(3688-3690)Gat>Aat	p.D1230N	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Missense_Mutation_p.D1230N	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1230	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.D1230N(2)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCAAAAAGAGGATGATTCCAA	0.378000														44			15		0	0	0.000566183	0	0
CORIN	10699	broad.mit.edu	37	4	47605664	47605664	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:47605664C>T	uc003gxm.3	-	19	2655	c.2562G>A	c.(2560-2562)tgG>tgA	p.W854*	CORIN_uc011bzf.2_Nonsense_Mutation_p.W715*|CORIN_uc011bzg.2_Nonsense_Mutation_p.W787*	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	854	Peptidase S1.			W -> R (in Ref. 4; AAF21966).	peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GCACCACTTTCCAAACTGCAG	0.398000														22			18		0	0	0.00121646	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141460944	141460944	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:141460944G>A	uc003yvh.2	-	1	838	c.823C>T	c.(823-825)Ctt>Ttt	p.L275F	TRAPPC9_uc003yvj.2_Missense_Mutation_p.L177F|TRAPPC9_uc003yvi.1_Missense_Mutation_p.L177F	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	177					cell differentiation	Golgi apparatus|endoplasmic reticulum				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						ACACAGAGAAGGGGGATCTTA	0.532000														23			7		0	0	0.00198382	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459540	107459540	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:107459540G>A	uc002tdq.3	-	1	1013	c.894C>T	c.(892-894)gtC>gtT	p.V298V	ST6GAL2_uc002tdr.3_Silent_p.V298V|ST6GAL2_uc002tds.3_Silent_p.V298V	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	298					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CAGACATGACGACAGCGCAGC	0.687000														14			9		0	0	0.00136819	0	0
GIT2	9815	broad.mit.edu	37	12	110390905	110390905	+	Missense_Mutation	SNP	G	A	A	rs143551429	byFrequency	TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:110390905G>A	uc001tps.2	-	12	1399	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W	TCHP_uc001tpo.1_Intron|GIT2_uc001tpq.2_Missense_Mutation_p.R412W|GIT2_uc001tpv.2_Missense_Mutation_p.R414W|GIT2_uc001tpu.2_Missense_Mutation_p.R412W|GIT2_uc001tpt.2_Missense_Mutation_p.R412W|GIT2_uc010sxu.1_Missense_Mutation_p.R350W|GIT2_uc001tpw.3_Missense_Mutation_p.R412W|GIT2_uc010sxv.1_Missense_Mutation_p.R412W	NM_057169	NP_476510	Q14161	GIT2_HUMAN	Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 2 (GIT2), transcript variant 1, mRNA.	412					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						ACCTTCTGCCGGTTTGTTTTG	0.547000														51			9		0	0	0.000442599	0	0
CARD11	84433	broad.mit.edu	37	7	2959017	2959017	+	Silent	SNP	G	A	A	rs150171618		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:2959017G>A	uc003smv.3	-	17	2833	c.2499C>T	c.(2497-2499)ccC>ccT	p.P833P		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	833					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GGCTGTAGCTGGGTATGGTGC	0.612000			Mis		DLBCL									41			26		0	0	0.00127121	0	0
FAT3	120114	broad.mit.edu	37	11	92577195	92577195	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:92577195G>A	uc001pdj.4	+	17	10679	c.10662G>A	c.(10660-10662)ctG>ctA	p.L3554L	FAT3_uc001pdi.4_5'UTR	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3554	Cadherin 33.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCATTCCCCTGGAAATTTTCA	0.488000										TCGA Ovarian(4;0.039)				285			254		0	0	0.00361006	0	0
ZNF98	148198	broad.mit.edu	37	19	22574947	22574947	+	Missense_Mutation	SNP	G	A	A	rs74170714		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:22574947G>A	uc002nqt.2	-	3	1212	c.1090C>T	c.(1090-1092)Cac>Tac	p.H364Y		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GTAGTAAGGTGGGATAACCGG	0.383000														13			11		0	0	0.00136819	0	0
ACO2	50	broad.mit.edu	37	22	41913586	41913586	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:41913586C>T	uc003bac.3	+	6	913	c.891C>T	c.(889-891)ttC>ttT	p.F297F		NM_001098	NP_001089	Q99798	ACON_HUMAN	Homo sapiens aconitase 2, mitochondrial (ACO2), nuclear gene encoding mitochondrial protein, mRNA.	297					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CTTCCGTGTTCCCTTACAACC	0.622000											OREG0026588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		21			10		0	0	0.00244969	0	0
C3	718	broad.mit.edu	37	19	6679196	6679196	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:6679196C>T	uc002mfm.3	-	37	4632	c.4570G>A	c.(4570-4572)Gat>Aat	p.D1524N		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1524	NTR.				G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ACCTTGTCATCCGACTTTTGT	0.572000														36			4		0	0	0.00024832	0	0
ZPLD1	131368	broad.mit.edu	37	3	102189276	102189276	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:102189276G>A	uc003dvt.1	+	8	1120	c.1020G>A	c.(1018-1020)agG>agA	p.R340R	ZPLD1_uc003dvs.1_Silent_p.R324R|ZPLD1_uc011bhg.1_Silent_p.R324R	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	324						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CTGGGAGGAGGACGACTTGGA	0.507000														50			16		0	0	0.00074312	0	0
HCN1	348980	broad.mit.edu	37	5	45353282	45353282	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:45353282C>T	uc003jok.3	-	4	1322	c.1297G>A	c.(1297-1299)Gat>Aat	p.D433N		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	433						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCATAGTAATCATGTATCTTC	0.338000														16			14		0	0	0.00244969	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55329935	55329935	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:55329935G>A	uc002qhl.4	+	2	299	c.236G>A	c.(235-237)aGc>aAc	p.S79N	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Missense_Mutation_p.S79N|KIR3DL2_uc010esf.3_Intron|KIR3DL2_uc021vbo.1_Missense_Mutation_p.S79N|KIR3DL2_uc002qhk.4_Missense_Mutation_p.S79N			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	79	Ig-like C2-type 1.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		TTCCAGGAGAGCTTCAACATG	0.507000														48			14		0	0	0.00185496	0	0
ITGBL1	9358	broad.mit.edu	37	13	102359248	102359248	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:102359248G>A	uc001vpb.3	+	8	1494	c.1275G>A	c.(1273-1275)ggG>ggA	p.G425G	ITGBL1_uc010agb.3_Silent_p.G376G|ITGBL1_uc001vpc.4_Silent_p.G284G	NM_004791	NP_004782	O95965	ITGBL_HUMAN	Homo sapiens integrin, beta-like 1 (with EGF-like repeat domains) (ITGBL1), mRNA.	425	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTGCTCGGGGAAGGGTGAGT	0.478000														85			8		0	0	0.000442599	0	0
OR5L1	219437	broad.mit.edu	37	11	55578985	55578985	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:55578985C>T	uc001nhw.1	+	0	43	c.43C>T	c.(43-45)Ctt>Ttt	p.L15F		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L15L(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GTTCATTCTCCTTGGACTATC	0.428000														93			19		0	0	0.00152264	0	0
ITGA7	3679	broad.mit.edu	37	12	56087064	56087064	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:56087064G>A	uc001shh.3	-	19	2805	c.2585C>T	c.(2584-2586)tCt>tTt	p.S862F	ITGA7_uc001shg.3_Missense_Mutation_p.S858F|ITGA7_uc010sps.2_Missense_Mutation_p.S765F|ITGA7_uc009znw.3_Missense_Mutation_p.S105F|ITGA7_uc009znx.3_Missense_Mutation_p.S739F	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	902					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GAGGAAGGCAGAGCCCAGGGT	0.507000														51			17		0	0	0.00074312	0	0
SPTLC3	55304	broad.mit.edu	37	20	13053030	13053030	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:13053030G>A	uc002wod.1	+	2	719	c.430G>A	c.(430-432)Gta>Ata	p.V144I		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	144					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GATGGAGAGGGTATCAGACGA	0.443000														248			86		0	0	0.00361006	0	0
GYS1	2997	broad.mit.edu	37	19	49473946	49473946	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:49473946G>C	uc002plp.3	-	13	1907	c.1666C>G	c.(1666-1668)Cgg>Ggg	p.R556G	GYS1_uc010emm.3_Missense_Mutation_p.R492G|GYS1_uc010xzz.2_Missense_Mutation_p.R476G	NM_002103	NP_002094	P13807	GYS1_HUMAN	Homo sapiens glycogen synthase 1 (muscle) (GYS1), transcript variant 1, mRNA.	556					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	p.R555Q(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CTGCGGAACCGCCGGTCAAGA	0.587000											OREG0025611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		30			11		0	0	0.00185496	0	0
PYGM	5837	broad.mit.edu	37	11	64522293	64522293	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:64522293C>T	uc001oax.4	-	7	1688	c.871G>A	c.(871-873)Gag>Aag	p.E291K	PYGM_uc001oay.4_Missense_Mutation_p.E203K	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	291					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	AGCCGCAGCTCCTTCCCTTCG	0.627000														15			5		0	0	0.00116845	0	0
HIF3A	64344	broad.mit.edu	37	19	46825223	46825223	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:46825223G>A	uc002peh.3	+	10	1366	c.1335_splice	c.e10+1	p.S445_splice	HIF3A_uc002peg.4_Splice_Site_p.S445_splice|HIF3A_uc010xxx.2_Splice_Site|HIF3A_uc021uwf.1_Splice_Site_p.S389_splice|HIF3A_uc002pej.2_Splice_Site_p.S376_splice|HIF3A_uc010xxy.2_Splice_Site_p.S376_splice|HIF3A_uc002pel.3_Splice_Site_p.S443_splice|HIF3A_uc010xxz.2_Splice_Site_p.S394_splice	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GTCCTCTTTCGGTAAGCCATC	0.622000														18			8		0	0	0.000442599	0	0
SLC6A2	6530	broad.mit.edu	37	16	55725938	55725938	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:55725938G>A	uc021tio.1	+	4	943	c.892G>A	c.(892-894)Gac>Aac	p.D298N	SLC6A2_uc002eif.3_Missense_Mutation_p.D298N|SLC6A2_uc002eig.3_Missense_Mutation_p.D298N|SLC6A2_uc002eii.3_Missense_Mutation_p.D193N|SLC6A2_uc002eij.3_Intron	NM_001172504	NP_001165975	P23975	SC6A2_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA.	298					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CCTGCACATCGACTTCTACCG	0.572000														54			27		0	0	0.001512	0	0
OR2L13	284521	broad.mit.edu	37	1	248263568	248263568	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:248263568G>A	uc001ids.3	+	2	1228	c.891G>A	c.(889-891)ctG>ctA	p.L297L	OR2L13_uc021pmc.1_Silent_p.L297L	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.L297P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			AGGAAGTCCTGGGGGCTATGA	0.473000														16			25		0	0	0.00127121	0	0
MEFV	4210	broad.mit.edu	37	16	3304748	3304748	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:3304748G>T	uc002cun.1	-	1	360	c.320C>A	c.(319-321)tCc>tAc	p.S107Y	MEFV_uc021tbw.1_Intron|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_Intron	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	107					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CAGGGAGCTGGACGCTGCGGA	0.592000														102			6		1.12685e-05	2.5509e-05	0.000274275	1	0
XIRP1	165904	broad.mit.edu	37	3	39227129	39227129	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:39227129G>A	uc003cjk.2	-	1	4037	c.3808C>T	c.(3808-3810)Cca>Tca	p.P1270S	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_5'UTR|XIRP1_uc021wvz.1_Missense_Mutation_p.P1270S	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1270	Pro-rich.						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GCTCCAGCTGGAAAGTCAGGT	0.632000														45			36		0	0	0.00327116	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139727	142139727	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:142139727C>T	uc003vyt.3	-	0	89	c.44G>A	c.(43-45)gGg>gAg	p.G15E	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV7-6_uc011krv.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CTCACCTGTCCCTAGGAAACC	0.532000														67			28		0	0	0.00283554	0	0
NLRP11	204801	broad.mit.edu	37	19	56321174	56321174	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:56321174C>T	uc010ygf.2	-	4	1513	c.802G>A	c.(802-804)Gct>Act	p.A268T	NLRP11_uc002qlz.3_Missense_Mutation_p.A169T|NLRP11_uc002qmb.3_Missense_Mutation_p.A169T|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	268	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CAGCCTGGAGCCATTTTTCTC	0.458000														37			36		0	0	0.00111076	0	0
ADD2	119	broad.mit.edu	37	2	70906010	70906010	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:70906010C>T	uc021vjc.1	-	10	1474	c.1209G>A	c.(1207-1209)acG>acA	p.T403T	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Silent_p.T403T|ADD2_uc002sgz.3_Silent_p.T403T|ADD2_uc010fdt.2_Silent_p.T403T|ADD2_uc002shc.2_Silent_p.T403T|ADD2_uc010fdu.2_Silent_p.T419T	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	403					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	p.T403T(3)|p.T419T(1)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						AGGCTGTGACCGTGGCTGGAA	0.542000														77			26		0	0	0.00178596	0	0
H3F3C	440093	broad.mit.edu	37	12	31944860	31944860	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:31944860C>T	uc001rkr.3	-	0	316	c.241G>A	c.(241-243)Gac>Aac	p.D81N		NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN	Homo sapiens H3 histone, family 3C (H3F3C), mRNA.	81					nucleosome assembly	nucleosome|nucleus	DNA binding	p.T80T(1)|p.T80I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						AACCTCAGGTCAGTGTTGAAA	0.577000										HNSCC(67;0.2)				53			20		0	0	0.00229938	0	0
LRRC49	54839	broad.mit.edu	37	15	71196915	71196915	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:71196915C>T	uc010ukf.2	+	4	642	c.336C>T	c.(334-336)atC>atT	p.I112I	LRRC49_uc002asu.3_Silent_p.I97I|LRRC49_uc002asx.3_Silent_p.I63I|LRRC49_uc002asw.3_Silent_p.I107I|LRRC49_uc002asy.3_5'UTR|LRRC49_uc002asz.3_Silent_p.I79I	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	107						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TATGTCCTATCATCAATGGGG	0.308000														41			22		0	0	0.00278032	0	0
TTBK1	84630	broad.mit.edu	37	6	43214429	43214429	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:43214429G>A	uc003ouq.1	+	1	310	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	11						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCTTAAGGACGAAACCAACAT	0.667000														18			21		0	0	0.00278032	0	0
APOB	338	broad.mit.edu	37	2	21236095	21236095	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:21236095G>A	uc002red.3	-	24	4281	c.4153C>T	c.(4153-4155)Ctt>Ttt	p.L1385F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1385					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.S1384N(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CGAGCCCGAAGGCTGAAATGG	0.532000														275			52		0	0	0.00361006	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17697618	17697618	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:17697618G>A	uc002rcl.1	-	0	2089	c.2065C>T	c.(2065-2067)Ccc>Tcc	p.P689S	RAD51AP2_uc010exn.1_Missense_Mutation_p.P680S	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	689										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATTAAAAGGGGAATTTTTTCA	0.294000														42			29		0	0	0.001512	0	0
PLCB2	5330	broad.mit.edu	37	15	40591081	40591081	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:40591081G>A	uc001zld.3	-	8	1069	c.768C>T	c.(766-768)tcC>tcT	p.S256S	PLCB2_uc010bbo.3_Silent_p.S256S|PLCB2_uc010ucm.2_Silent_p.S256S	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	256					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGAACAGCAGGGAGTTAAGCC	0.567000														56			53		0	0	0.00361006	0	0
TNR	7143	broad.mit.edu	37	1	175323626	175323626	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:175323626G>A	uc001gkp.1	-	15	3364	c.3283C>T	c.(3283-3285)Cga>Tga	p.R1095*	TNR_uc009wwu.1_Nonsense_Mutation_p.R1095*	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	1095	Fibronectin type-III 9.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.I1094I(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCCTCCAGTCGAATCCAGGTG	0.552000														48			50		0	0	0.00361006	0	0
SPDYE4	388333	broad.mit.edu	37	17	8660636	8660636	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:8660636C>T	uc010cnz.1	-	1	461	c.284G>A	c.(283-285)cGa>cAa	p.R95Q		NM_001128076	NP_001121548	A6NLX3	SPDE4_HUMAN	Homo sapiens speedy homolog E4 (Xenopus laevis) (SPDYE4), mRNA.	95										breast(1)|endometrium(2)|kidney(1)	4						TGCTCGCTTTCGCTTCAGCTT	0.597000														6			4		0	0	0.000602214	0	0
MRPS14	63931	broad.mit.edu	37	1	174983953	174983953	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:174983953C>T	uc001gkk.3	-	2	286	c.239G>A	c.(238-240)cGg>cAg	p.R80Q	MRPS14_uc009wwr.3_Missense_Mutation_p.R65Q	NM_022100	NP_071383	O60783	RT14_HUMAN	Homo sapiens mitochondrial ribosomal protein S14 (MRPS14), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	80					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			large_intestine(2)|lung(5)|pancreas(1)|prostate(2)	10						ACAGCTATCCCGGGGGAGGGC	0.483000														161			32		0	0	0.00375469	0	0
CEBPE	1053	broad.mit.edu	37	14	23587028	23587028	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:23587028G>A	uc001wiv.2	-	1	1034	c.514C>T	c.(514-516)Cct>Tct	p.P172S		NM_001805	NP_001796	Q15744	CEBPE_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), epsilon (CEBPE), mRNA.	172						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		GTGGCCAAAGGGGCCTGGAGG	0.672000														22			12		0	0	0.00136819	0	0
CDH6	1004	broad.mit.edu	37	5	31313499	31313499	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:31313499C>T	uc003jhe.2	+	7	1688	c.1328C>T	c.(1327-1329)tCg>tTg	p.S443L	CDH6_uc003jhd.2_Missense_Mutation_p.S443L	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	443	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.S443S(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATTTTTACATCGAAACTTCTT	0.393000														53			36		0	0	0.00375469	0	0
MTMR7	9108	broad.mit.edu	37	8	17188682	17188682	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:17188682T>C	uc003wxm.3	-	6	1081	c.842A>G	c.(841-843)aAc>aGc	p.N281S	MTMR7_uc003wxn.3_Missense_Mutation_p.N60S	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	Homo sapiens myotubularin related protein 7 (MTMR7), mRNA.	281	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CTGCAGACTGTTCCTCATGAC	0.378000														45			20		0	0	0.00278032	0	0
MARS	4141	broad.mit.edu	37	12	57894287	57894287	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:57894287C>T	uc001sog.3	+	9	1429	c.1275C>T	c.(1273-1275)atC>atT	p.I425I	MARS_uc001sof.1_Non-coding_Transcript|MARS_uc010srp.1_Silent_p.I298I|MARS_uc010srq.1_Silent_p.I191I	NM_004990	NP_004981	P56192	SYMC_HUMAN	Homo sapiens methionyl-tRNA synthetase (MARS), mRNA.	425					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GCAAGCTCATCAATGCTGTCG	0.562000														33			8		0	0	0.000274275	0	0
KIAA0754	643314	broad.mit.edu	37	1	39880101	39880101	+	Silent	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:39880101A>G	uc009vvt.1	+	0	4926	c.4164A>G	c.(4162-4164)ctA>ctG	p.L1388L	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	Homo sapiens KIAA0754 (KIAA0754), mRNA.	1252										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCACAGTGCTACATGGGAAAG	0.458000														39			18		0	0	0.000958276	0	0
CCDC144A	9720	broad.mit.edu	37	17	16593786	16593786	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:16593786G>A	uc002gqk.1	+	0	148	c.72G>A	c.(70-72)agG>agA	p.R24R		NM_014695	NP_055510	A2RUR9	C144A_HUMAN	Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA.	24																	ACGCCACGAGGAAGACCCCTA	0.657000														12			13		0	0	0.00185496	0	0
UBE2G1	7326	broad.mit.edu	37	17	4192609	4192609	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:4192609G>A	uc002fxs.3	-	3	700	c.342C>T	c.(340-342)atC>atT	p.I114I		NM_003342	NP_003333	P62253	UB2G1_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2G 1 (UBE2G1), mRNA.	114					protein K48-linked ubiquitination|protein K63-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity			large_intestine(2)|lung(4)|skin(1)	7						CCACAGTGTGGATAGGGAGCC	0.453000														80			5		0	0	0.000602214	0	0
CA2	760	broad.mit.edu	37	8	86385958	86385958	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:86385958T>C	uc003ydk.2	+	2	449	c.269T>C	c.(268-270)tTg>tCg	p.L90S		NM_000067	NP_000058	P00918	CAH2_HUMAN	Homo sapiens carbonic anhydrase II (CA2), mRNA.	90					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	ACTTACAGATTGATTCAGTTT	0.338000														34			17		0	0	0.00121646	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72190579	72190579	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:72190579C>T	uc001xms.3	+	15	4848	c.4487C>T	c.(4486-4488)tCc>tTc	p.S1496F	SIPA1L1_uc001xmt.3_Missense_Mutation_p.S1475F|SIPA1L1_uc001xmu.3_Missense_Mutation_p.S1475F|SIPA1L1_uc001xmv.3_Missense_Mutation_p.S1496F|SIPA1L1_uc010ttm.2_Missense_Mutation_p.S950F	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1496					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	p.S1496F(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACCATAAACTCCGTGGGATTT	0.478000														75			20		0	0	0.00121646	0	0
MGAM	8972	broad.mit.edu	37	7	141803166	141803166	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:141803166C>T	uc003vwy.3	+	46	5477	c.5423C>T	c.(5422-5424)cCc>cTc	p.P1808L		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1808	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGCAGTGTCCCCGTTACCAGT	0.458000														20			11		0	0	0.00136819	0	0
NSUN4	387338	broad.mit.edu	37	1	46810494	46810494	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:46810494C>T	uc001cpr.1	+	1	224	c.115C>T	c.(115-117)Cct>Tct	p.P39S	NSUN4_uc010omc.1_5'UTR|NSUN4_uc009vyf.1_5'UTR|NSUN4_uc009vyg.1_5'UTR|NSUN4_uc001cpt.1_Non-coding_Transcript|NSUN4_uc001cps.1_Non-coding_Transcript	NM_199044	NP_950245	Q96CB9	NSUN4_HUMAN	Homo sapiens NOP2/Sun domain family, member 4 (NSUN4), transcript variant 1, mRNA.	39							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					GCCCAAATTCCCTGCTGTTCG	0.502000														177			7		0	0	0.00307968	0	0
ZNF382	84911	broad.mit.edu	37	19	37118051	37118051	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:37118051A>C	uc002oek.3	+	4	1365	c.1252A>C	c.(1252-1254)Atc>Ctc	p.I418L	ZNF382_uc010efa.3_Missense_Mutation_p.I369L|ZNF382_uc010efb.3_Missense_Mutation_p.I417L|ZNF382_uc002oel.3_Missense_Mutation_p.I417L	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	Homo sapiens zinc finger protein 382 (ZNF382), mRNA.	418	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GAAGGCATTTATCCAGAAGAC	0.448000														37			22		0	0	0.000720815	0	0
DNAH5	1767	broad.mit.edu	37	5	13735333	13735333	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:13735333C>T	uc003jfd.2	-	67	11710	c.11668G>A	c.(11668-11670)Gag>Aag	p.E3890K	DNAH5_uc003jfc.2_Missense_Mutation_p.E58K	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3890					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AATTTGTGCTCCTCGTACAGC	0.448000									Kartagener syndrome					22			8		0	0	0.00307968	0	0
PFKFB4	5210	broad.mit.edu	37	3	48573728	48573728	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:48573728C>T	uc003ctv.3	-	7	818	c.801G>A	c.(799-801)cgG>cgA	p.R267R	PFKFB4_uc003ctx.3_Silent_p.R224R|PFKFB4_uc010hkb.3_Silent_p.R267R|PFKFB4_uc003ctw.3_Silent_p.R76R|PFKFB4_uc010hkc.3_Silent_p.R267R|PFKFB4_uc011bbm.2_Silent_p.R256R|PFKFB4_uc011bbn.1_Non-coding_Transcript	NM_004567	NP_004558	Q16877	F264_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 (PFKFB4), mRNA.	267	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CCCCGCCAATCCGGCCCTTGA	0.642000														60			30		0	0	0.00209593	0	0
CSMD2	114784	broad.mit.edu	37	1	34123639	34123639	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:34123639C>T	uc001bxm.1	-	26	4531	c.4354G>A	c.(4354-4356)Gac>Aac	p.D1452N	CSMD2_uc001bxn.1_Missense_Mutation_p.D1412N|CSMD2_uc001bxo.1_Missense_Mutation_p.D325N	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1412	CUB 9.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TAGCCAGGGTCACACTGGAAC	0.582000														70			32		0	0	0.00209593	0	0
GDF3	9573	broad.mit.edu	37	12	7848100	7848100	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:7848100C>T	uc001qte.3	-	0	261	c.225G>A	c.(223-225)gaG>gaA	p.E75E		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	Homo sapiens growth differentiation factor 3 (GDF3), mRNA.	75					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGACGCCCAGCTCCTTTACGT	0.493000														46			38		0	0	0.000953801	0	0
DNM3	26052	broad.mit.edu	37	1	171956893	171956893	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:171956893G>A	uc001gie.3	+	2	509	c.333G>A	c.(331-333)atG>atA	p.M111I	DNM3_uc001gid.4_Missense_Mutation_p.M111I|DNM3_uc009wwb.2_Missense_Mutation_p.M111I|DNM3_uc001gif.3_Missense_Mutation_p.M111I	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	111					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TGACTGGAATGAATAAAGGCA	0.353000														80			94		0	0	0.00361006	0	0
THBS4	7060	broad.mit.edu	37	5	79363932	79363932	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:79363932G>A	uc021yaw.1	+	9	1522	c.1331G>A	c.(1330-1332)gGg>gAg	p.G444E	BC047373_uc003kgi.4_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	444	EGF-like 4.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GAGAGGCAGGGGGATGTGACA	0.458000														45			39		0	0	0.0025221	0	0
CDC37	11140	broad.mit.edu	37	19	10502334	10502334	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:10502334G>A	uc002mof.1	-	7	1146	c.1030C>T	c.(1030-1032)Ccc>Tcc	p.P344S		NM_007065	NP_008996	Q16543	CDC37_HUMAN	Homo sapiens cell division cycle 37 homolog (S. cerevisiae) (CDC37), mRNA.	344					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		TTAGAGTTGGGGACCCAGAGG	0.627000											OREG0025234	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		47			12		0	0	0.00244969	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485076	97485076	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:97485076A>G	uc001vmw.3	+	1	1064	c.1040A>G	c.(1039-1041)aAc>aGc	p.N347S		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA.	347						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					AACCTGAAGAACATGGCCTTC	0.473000														61			6		0	0	0.00116845	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140175015	140175015	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140175015G>A	uc003lhd.2	+	0	572	c.466G>A	c.(466-468)Gga>Aga	p.G156R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.G156R|PCDHAC2_uc011czy.2_Missense_Mutation_p.G156R	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	171	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.G156*(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTCTAGAGGGAGCATCTGA	0.438000														58			37		0	0	0.00327116	0	0
ABCA12	26154	broad.mit.edu	37	2	215865485	215865485	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:215865485G>A	uc002vew.3	-	21	3343	c.3123C>T	c.(3121-3123)tcC>tcT	p.S1041S	ABCA12_uc002vev.3_Silent_p.S723S|ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1041					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTATTTCCTGGGAGTTCCTTC	0.388000														74			5		0	0	0.000602214	0	0
FAM179B	23116	broad.mit.edu	37	14	45537756	45537756	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:45537756C>T	uc001wvw.3	+	17	5088	c.4879C>T	c.(4879-4881)Cca>Tca	p.P1627S	FAM179B_uc001wvv.3_Missense_Mutation_p.P1574S|FAM179B_uc010anc.3_Non-coding_Transcript	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.	1574							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CATGCTAATTCCAGCAATAGT	0.388000														37			9		0	0	0.000673444	0	0
KRT72	140807	broad.mit.edu	37	12	52992684	52992684	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:52992684C>T	uc001sar.2	-	1	725	c.639G>A	c.(637-639)aaG>aaA	p.K213K	KRT72_uc001saq.2_Silent_p.K213K|KRT72_uc010sns.1_Silent_p.K213K|KRT72_uc010snt.1_Silent_p.K25K	NM_001146225	NP_542785	Q14CN4	K2C72_HUMAN	Homo sapiens keratin 72 (KRT72), transcript variant 2, mRNA.	213	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TCACTCACCTCTTCTTGTAGT	0.512000														69			22		0	0	0.00278032	0	0
ADAM22	53616	broad.mit.edu	37	7	87810903	87810903	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:87810903G>A	uc003ujn.3	+	27	2707	c.2492G>A	c.(2491-2493)cGa>cAa	p.R831Q	ADAM22_uc003ujk.2_Missense_Mutation_p.R831Q|ADAM22_uc003ujl.2_Missense_Mutation_p.R795Q|ADAM22_uc003ujm.3_Missense_Mutation_p.R795Q|ADAM22_uc003ujo.3_Missense_Mutation_p.R795Q|ADAM22_uc003ujp.1_Missense_Mutation_p.R883Q	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	831					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GGGCGACCTCGAAGTAACTCT	0.403000														18			17		0	0	0.00074312	0	0
abParts	0	broad.mit.edu	37	14	106714464	106714464	+	RNA	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:106714464C>T	uc021ser.1	-	1008		c.23360G>A								Parts of antibodies, mostly variable regions.																		ATCTGCCTTTCACAGACGTGG	0.493000														13			20		0	0	0.00229938	0	0
ODZ2	57451	broad.mit.edu	37	5	167626007	167626007	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:167626007C>T	uc010jjd.3	+	15	3023	c.3023C>T	c.(3022-3024)cCc>cTc	p.P1008L	ODZ2_uc003lzr.4_Missense_Mutation_p.P785L|ODZ2_uc003lzt.4_Missense_Mutation_p.P381L|ODZ2_uc010jje.3_Missense_Mutation_p.P279L	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		AACTCCATCCCCAGCTGTGAC	0.587000														12			14		0	0	0.00185496	0	0
SLC1A6	6511	broad.mit.edu	37	19	15083648	15083648	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:15083648C>T	uc002naa.1	-	0	82	c.75G>A	c.(73-75)cgG>cgA	p.R25R	SLC1A6_uc010dzu.1_Silent_p.R25R|SLC1A6_uc010xod.1_Missense_Mutation_p.A30T|SLC1A6_uc002nab.3_Silent_p.R25R|SLC1A6_uc002nac.3_Silent_p.R25R|SLC1A6_uc002nad.1_Silent_p.R25R	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	25					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TTTCCTGCAGCCGCTGCAGCC	0.667000														8			4		0	0	0.00024832	0	0
SSTR4	6754	broad.mit.edu	37	20	23016549	23016549	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:23016549C>T	uc002wsr.2	+	0	493	c.429C>T	c.(427-429)gaC>gaT	p.D143D		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	143					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCAGCGTGGACCGCTACGTGG	0.687000														37			20		0	0	0.00152264	0	0
FAM75C2	645961	broad.mit.edu	37	9	90746939	90746939	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:90746939G>A	uc011lti.2	-	3	1042	c.1013C>T	c.(1012-1014)tCa>tTa	p.S338L		NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	338																	GGGTGTGGATGAAATAAAGGG	0.552000														75			104		0	0	0.00361006	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215950	20215950	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:20215950G>A	uc010tkt.2	+	0	364	c.364G>A	c.(364-366)Gac>Aac	p.D122N		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATGGCCTATGACAGGTATGT	0.502000														9			6		0	0	0.00198382	0	0
NLRP4	147945	broad.mit.edu	37	19	56369416	56369416	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:56369416C>T	uc002qmd.4	+	2	1079	c.657C>T	c.(655-657)atC>atT	p.I219I	NLRP4_uc002qmf.3_Silent_p.I144I|NLRP4_uc010etf.3_Silent_p.I50I	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	219	NACHT.						ATP binding	p.I219I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TAACAGAGATCGTGTCTCAAC	0.537000														60			40		0	0	0.00148497	0	0
CCDC28A	25901	broad.mit.edu	37	6	139109522	139109522	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:139109522C>T	uc003qie.3	+	4	922	c.767C>T	c.(766-768)tCc>tTc	p.S256F		NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN	Homo sapiens coiled-coil domain containing 28A (CCDC28A), mRNA.	256										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TTGAATTCTTCCATGTATCCT	0.229000														41			12		0	0	0.00244969	0	0
CAMK2G	818	broad.mit.edu	37	10	75607824	75607824	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:75607824G>A	uc001jvv.2	-	8	724	c.594C>T	c.(592-594)atC>atT	p.I198I	CAMK2G_uc001jvs.2_Silent_p.I206I|CAMK2G_uc001jvm.2_Silent_p.I206I|CAMK2G_uc001jvo.2_Silent_p.I206I|CAMK2G_uc001jvp.2_Silent_p.I206I|CAMK2G_uc001jvq.2_Silent_p.I206I|CAMK2G_uc001jvr.2_Silent_p.I206I|CAMK2G_uc001jvt.2_Non-coding_Transcript|CAMK2G_uc010qkv.2_Intron	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II gamma (CAMK2G), transcript variant 1, mRNA.	206	Protein kinase.				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					CCACCAGGAGGATATACAGGA	0.547000														84			24		0	0	0.00332997	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981641	61981641	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:61981641G>A	uc002yes.2	-	4	1300	c.1122C>T	c.(1120-1122)tcC>tcT	p.S374S	CHRNA4_uc002yet.1_Silent_p.S198S|CHRNA4_uc010gke.1_Silent_p.S303S|CHRNA4_uc002yev.1_Silent_p.S198S|CHRNA4_uc010gkf.1_Silent_p.S198S	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	374					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	TCTTATGCATGGACTCGATGA	0.672000														11			11		0	0	0.00136819	0	0
SAGE1	55511	broad.mit.edu	37	X	134994548	134994548	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:134994548G>A	uc004ezh.3	+	18	2757	c.2590G>A	c.(2590-2592)Gaa>Aaa	p.E864K	SAGE1_uc010nry.1_3'UTR|SAGE1_uc011mvv.2_Missense_Mutation_p.E488K	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	864										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					ACAATTTGTTGAATTTACCAT	0.348000														23			70		0	0	0.00361006	0	0
VAT1L	57687	broad.mit.edu	37	16	77910297	77910297	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:77910297G>A	uc002ffg.1	+	4	850	c.753G>A	c.(751-753)ttG>ttA	p.L251L		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	251							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						ACATCGTTTTGGATTGCCTCT	0.473000														87			40		0	0	0.00321405	0	0
CHD5	26038	broad.mit.edu	37	1	6202331	6202331	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:6202331C>T	uc001amb.2	-	14	2404	c.2293G>A	c.(2293-2295)Gaa>Aaa	p.E765K	CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	765	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AACTCGCGTTCCCAGTTGATG	0.612000														21			21		0	0	0.00278032	0	0
IFT27	11020	broad.mit.edu	37	22	37159018	37159018	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:37159018C>T	uc003apv.2	-	5	813	c.392G>A	c.(391-393)cGa>cAa	p.R131Q	IFT27_uc021won.1_Missense_Mutation_p.R90Q|IFT27_uc003apu.2_Missense_Mutation_p.R130Q|IFT27_uc021woo.1_5'Flank|IFT27_uc003apw.2_3'UTR	NM_001177701	NP_001171173	Q9BW83	IFT27_HUMAN	Homo sapiens intraflagellar transport 27 homolog (Chlamydomonas) (IFT27), transcript variant 1, mRNA.	131					small GTPase mediated signal transduction	intraflagellar transport particle B|microtubule-based flagellum	GTP binding			endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GTCCACTGCTCGTCTGCCGGC	0.552000														35			18		0	0	0.00074312	0	0
CHRND	1144	broad.mit.edu	37	2	233394806	233394806	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:233394806C>T	uc002vsw.3	+	6	781	c.777C>T	c.(775-777)ctC>ctT	p.L259L	CHRND_uc021vyi.1_Non-coding_Transcript|CHRND_uc010zmg.2_Silent_p.L244L|CHRND_uc010zmh.2_Intron	NM_000751	NP_000742	Q07001	ACHD_HUMAN	Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA.	259					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		CCTGCGTGCTCATCTCCTTCA	0.627000														44			11		0	0	0.00316338	0	0
DENND3	22898	broad.mit.edu	37	8	142154307	142154307	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:142154307C>T	uc003yvy.3	+	4	722	c.444C>T	c.(442-444)ttC>ttT	p.F148F	DENND3_uc010mep.3_Silent_p.F161F	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	148	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TAAAAGATTTCGCTGCGAAGC	0.368000														37			25		0	0	0.00106085	0	0
RASA2	5922	broad.mit.edu	37	3	141289762	141289762	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:141289762T>C	uc010huq.1	+	9	872	c.872T>C	c.(871-873)cTa>cCa	p.L291P	RASA2_uc003etz.1_Missense_Mutation_p.L291P|RASA2_uc003eua.1_Missense_Mutation_p.L291P|RASA2_uc011bnc.1_5'UTR	NM_006506	NP_006497	Q15283	RASA2_HUMAN	Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA.	291					intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	Ras GTPase activator activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AGGTACTTGCTACAGCCAAGA	0.358000														24			11		0	0	0.00136819	0	0
U2SURP	23350	broad.mit.edu	37	3	142720497	142720497	+	Silent	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:142720497T>C	uc003evh.1	+	0	126	c.27T>C	c.(25-27)tcT>tcC	p.S9S	U2SURP_uc003evi.1_5'UTR|U2SURP_uc011bnj.1_Silent_p.S9S|U2SURP_uc003evj.1_Non-coding_Transcript|U2SURP_uc003evk.1_Silent_p.S9S|LOC100289361_uc021xew.1_5'Flank	NM_001080415	NP_001073884	O15042	SR140_HUMAN	Homo sapiens U2 snRNP-associated SURP domain containing (U2SURP), mRNA.	9					RNA processing	nucleus	RNA binding|nucleotide binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						CAGGCGGATCTCAGAAGGCCA	0.572000														31			13		0	0	0.000566183	0	0
ZNF281	23528	broad.mit.edu	37	1	200377283	200377283	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:200377283G>A	uc001gve.3	-	1	1658	c.1551C>T	c.(1549-1551)ctC>ctT	p.L517L	ZNF281_uc001gvf.1_Silent_p.L517L|ZNF281_uc001gvg.1_Silent_p.L481L|ZNF281_uc021phb.1_Silent_p.L517L	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	Homo sapiens zinc finger protein 281 (ZNF281), mRNA.	517					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						TTGTACTTTGGAGAAGACCAA	0.398000														140			33		0	0	0.00148497	0	0
COL5A3	50509	broad.mit.edu	37	19	10100192	10100192	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:10100192G>A	uc002mmq.1	-	24	2085	c.1999C>T	c.(1999-2001)Cct>Tct	p.P667S		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	667	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGGTTTCCAGGGGGACCCTGA	0.572000														27			7		0	0	0.00307968	0	0
CLEC10A	10462	broad.mit.edu	37	17	6981423	6981423	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:6981423G>A	uc002gek.3	-	2	380	c.77C>T	c.(76-78)cCt>cTt	p.P26L	CLEC10A_uc002gej.3_Missense_Mutation_p.P26L|CLEC10A_uc010clv.2_Missense_Mutation_p.P26L	NM_182906	NP_878910	Q8IUN9	CLC10_HUMAN	Homo sapiens C-type lectin domain family 10, member A (CLEC10A), transcript variant 1, mRNA.	26					endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GGACTGGAGAGGAAGTGGCCC	0.637000														19			17		0	0	0.00074312	0	0
OR6C4	341418	broad.mit.edu	37	12	55945033	55945033	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:55945033G>A	uc010spp.2	+	0	23	c.23G>A	c.(22-24)gGt>gAt	p.G8D		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						ACCATGTTTGGTGAGTTTATT	0.373000														24			16		0	0	0.000566183	0	0
ATP2B2	491	broad.mit.edu	37	3	10430058	10430058	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:10430058C>T	uc003bvt.3	-	5	1249	c.810G>A	c.(808-810)cgG>cgA	p.R270R	ATP2B2_uc003bvv.3_Silent_p.R270R|ATP2B2_uc003bvw.3_Silent_p.R270R|ATP2B2_uc010hdp.2_Silent_p.R270R|ATP2B2_uc010hdo.3_Silent_p.R6R	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	270					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TCACCAACATCCGTCCTGAGC	0.507000														89			38		0	0	0.00195071	0	0
NCAN	1463	broad.mit.edu	37	19	19349202	19349202	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:19349202G>A	uc002nlz.3	+	10	3490	c.3391G>A	c.(3391-3393)Gaa>Aaa	p.E1131K	NCAN_uc010ecc.1_Missense_Mutation_p.E695K|NCAN_uc002nma.3_5'Flank	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	1131	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CTCACCGGAGGAACACAGCTT	0.637000														67			40		0	0	0.00321405	0	0
POTEG	404785	broad.mit.edu	37	14	19553564	19553564	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:19553564G>A	uc001vuz.1	+	0	200	c.148G>A	c.(148-150)Gac>Aac	p.D50N	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	50										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGGAGACCACGACGATTCTGC	0.607000														472			38		0	0	0.00361006	0	0
PCDHB1	29930	broad.mit.edu	37	5	140433294	140433295	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140433294_140433295GG>AA	uc003lik.1	+	0	2316_2317	c.2239_2240GG>AA	c.(2239-2241)gga>AAa	p.G747K		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	747					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAAGGCAATGGATCCTTATCT	0.391000														79			9		0	0	6.4e-05	0	0
PKP2	5318	broad.mit.edu	37	12	32996185	32996185	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:32996185G>A	uc001rlj.4	-	5	1556	c.1441C>T	c.(1441-1443)Ccc>Tcc	p.P481S	PKP2_uc001rlk.4_Intron|PKP2_uc010skj.2_Intron	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	481					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					aaagtgctgggattacaggcg	0.537000														28			7		0	0	0.00198382	0	0
OR1K1	392392	broad.mit.edu	37	9	125562894	125562894	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:125562894G>A	uc011lze.2	+	0	493	c.493G>A	c.(493-495)Gct>Act	p.A165T		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily K, member 1 (OR1K1), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						CCTGCTCATGGCTCGCTTGTC	0.602000														24			26		0	0	0.00178596	0	0
RNF38	152006	broad.mit.edu	37	9	36390535	36390535	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:36390535G>A	uc003zzh.3	-	1	282	c.91C>T	c.(91-93)Ctg>Ttg	p.L31L	RNF38_uc003zzi.3_Intron|RNF38_uc003zzj.3_5'UTR|RNF38_uc003zzk.3_Intron|RNF38_uc003zzl.3_Intron|RNF38_uc003zzm.3_5'UTR	NM_022781	NP_919313	Q9H0F5	RNF38_HUMAN	Homo sapiens ring finger protein 38 (RNF38), transcript variant 1, mRNA.	31							zinc ion binding			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			AGAGGGAACAGGCTCTGAAGT	0.458000														91			52		0	0	0.00361006	0	0
CACNA1C	775	broad.mit.edu	37	12	2224708	2224708	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:2224708G>A	uc009zdu.1	+	1	681	c.368G>A	c.(367-369)tGg>tAg	p.W123*	CACNA1C_uc001qkc.2_Nonsense_Mutation_p.W123*|CACNA1C_uc001qjz.2_Nonsense_Mutation_p.W123*|CACNA1C_uc001qkd.2_Nonsense_Mutation_p.W123*|CACNA1C_uc001qke.2_Nonsense_Mutation_p.W123*|CACNA1C_uc001qkf.2_Nonsense_Mutation_p.W123*|CACNA1C_uc009zdw.1_Nonsense_Mutation_p.W123*|CACNA1C_uc001qkg.2_Nonsense_Mutation_p.W123*|CACNA1C_uc001qkh.2_Nonsense_Mutation_p.W123*|CACNA1C_uc001qkl.2_Nonsense_Mutation_p.W123*|CACNA1C_uc001qkj.2_Nonsense_Mutation_p.W123*|CACNA1C_uc001qkk.2_Nonsense_Mutation_p.W123*|CACNA1C_uc001qkn.2_Nonsense_Mutation_p.W123*|CACNA1C_uc001qkm.2_Nonsense_Mutation_p.W123*|CACNA1C_uc001qko.2_Nonsense_Mutation_p.W123*|CACNA1C_uc001qkp.2_Nonsense_Mutation_p.W123*|CACNA1C_uc001qkq.2_Nonsense_Mutation_p.W123*|CACNA1C_uc001qku.2_Nonsense_Mutation_p.W123*|CACNA1C_uc001qkr.2_Nonsense_Mutation_p.W123*|CACNA1C_uc001qks.2_Nonsense_Mutation_p.W123*|CACNA1C_uc001qkt.2_Nonsense_Mutation_p.W123*|CACNA1C_uc009zdv.1_Nonsense_Mutation_p.W123*|CACNA1C_uc001qkb.2_Nonsense_Mutation_p.W123*	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	123					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ATTGTCGAATGGAAATATCCT	0.647000														41			10		0	0	0.000673444	0	0
CDH20	28316	broad.mit.edu	37	18	59221748	59221748	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr18:59221748C>T	uc010dps.1	+	10	2378	c.2226C>T	c.(2224-2226)ttC>ttT	p.F742F	CDH20_uc002lif.2_Silent_p.F736F	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	742					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CACCGCCCTTCGACTCCCTCC	0.642000														6			7		0	0	0.00307968	0	0
ZNF471	57573	broad.mit.edu	37	19	57035811	57035811	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:57035811G>A	uc002qnh.3	+	4	508	c.375G>A	c.(373-375)tgG>tgA	p.W125*		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	Homo sapiens zinc finger protein 471 (ZNF471), mRNA.	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		AAGAAAATTGGAAATGGGAAG	0.378000														48			11		0	0	0.000673444	0	0
SMG7	9887	broad.mit.edu	37	1	183506317	183506317	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:183506317C>T	uc001gqg.3	+	10	1451	c.1201C>T	c.(1201-1203)Cat>Tat	p.H401Y	SMG7_uc010pob.2_Missense_Mutation_p.H430Y|SMG7_uc021pga.1_Missense_Mutation_p.H359Y|SMG7_uc001gqf.3_Missense_Mutation_p.H401Y|SMG7_uc001gqh.3_Missense_Mutation_p.H401Y|SMG7_uc010poc.2_Missense_Mutation_p.H359Y	NM_173156	NP_775179	Q92540	SMG7_HUMAN	Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA.	401					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GAATAGTTTCCATCCCCATGA	0.388000														100			23		0	0	0.001512	0	0
NEFL	4747	broad.mit.edu	37	8	24813304	24813304	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:24813304C>T	uc003xee.3	-	0	828	c.726G>A	c.(724-726)caG>caA	p.Q242Q		NM_006158	NP_006149	P07196	NFL_HUMAN	Homo sapiens neurofilament, light polypeptide (NEFL), mRNA.	242	Linker 12.|Rod.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton	p.Q242H(2)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CCACGGAGATCTGCGCGTACT	0.577000														24			11		0	0	0.00136819	0	0
ZNF454	285676	broad.mit.edu	37	5	178392033	178392033	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:178392033C>T	uc003mjo.2	+	4	929	c.628C>T	c.(628-630)Cat>Tat	p.H210Y	ZNF454_uc010jkz.2_Missense_Mutation_p.H210Y|ZNF454_uc021yjc.1_Missense_Mutation_p.H210Y	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Homo sapiens zinc finger protein 454 (ZNF454), transcript variant 2, mRNA.	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TCAGAAAATTCATATTAAGGA	0.358000														30			22		0	0	0.00188189	0	0
PTPRT	11122	broad.mit.edu	37	20	40730817	40730817	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:40730817G>A	uc002xkg.3	-	25	3845	c.3661C>T	c.(3661-3663)Ctt>Ttt	p.L1221F	PTPRT_uc010ggj.3_Missense_Mutation_p.L1240F|PTPRT_uc010ggi.3_Missense_Mutation_p.L424F	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1221	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACTGAGATAAGGAAGGGCAGG	0.577000														48			26		0	0	0.00209593	0	0
MSR1	4481	broad.mit.edu	37	8	16026222	16026222	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:16026222G>A	uc010lsu.3	-	3	493	c.429C>T	c.(427-429)atC>atT	p.I143I	MSR1_uc003wwz.3_Silent_p.I125I|MSR1_uc003wxa.3_Silent_p.I125I|MSR1_uc003wxb.3_Silent_p.I125I|MSR1_uc011kxz.2_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	125					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		AAATATGCTGGATTCTCTTCT	0.388000														98			39		0	0	0.00170553	0	0
ACVRL1	94	broad.mit.edu	37	12	52309221	52309221	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:52309221C>T	uc001rzj.3	+	6	1268	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C	ACVRL1_uc001rzk.3_Missense_Mutation_p.R329C|ACVRL1_uc010snm.2_Missense_Mutation_p.R155C	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	329	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of DNA replication|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	ATP binding|SMAD binding|activin binding|activin receptor activity, type I|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CATTGCCCACCGCGACTTCAA	0.657000														22			16		0	0	0.00400662	0	0
SLC8A2	6543	broad.mit.edu	37	19	47935358	47935358	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:47935358G>A	uc010ele.3	-	7	2471	c.2455C>T	c.(2455-2457)Cct>Tct	p.P819S	SLC8A2_uc002pgx.3_Intron|SLC8A2_uc010xyq.2_Intron|SLC8A2_uc010xyr.2_Intron			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	0					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		ATTTTGGCAGGATCCTGTGTT	0.582000														18			5		0	0	0.000602214	0	0
TMC4	147798	broad.mit.edu	37	19	54676769	54676769	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:54676769G>A	uc010erf.3	-	0	176	c.44C>T	c.(43-45)tCt>tTt	p.S15F	TMC4_uc002qdo.3_Missense_Mutation_p.S15F	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	Homo sapiens transmembrane channel-like 4 (TMC4), transcript variant 1, mRNA.	15						integral to membrane		p.S14F(1)		breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCACCCCCTAGAGGAGCCCCA	0.632000														138			32		0	0	0.00375469	0	0
PTPRT	11122	broad.mit.edu	37	20	41076894	41076894	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:41076894G>A	uc002xkg.3	-	8	1710	c.1526C>T	c.(1525-1527)cCc>cTc	p.P509L	PTPRT_uc010ggj.3_Missense_Mutation_p.P509L	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	509	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGTCTCATTGGGAGGTTTCCA	0.483000														69			24		0	0	0.000878237	0	0
ZCWPW1	55063	broad.mit.edu	37	7	99998722	99998722	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:99998722A>G	uc003uut.3	-	17	2110	c.1862T>C	c.(1861-1863)gTt>gCt	p.V621A	ZCWPW1_uc011kjq.2_Missense_Mutation_p.V501A|ZCWPW1_uc003uur.3_3'UTR|ZCWPW1_uc003uus.3_Missense_Mutation_p.V450A|ZCWPW1_uc011kjr.2_3'UTR|ZCWPW1_uc011kjp.2_Non-coding_Transcript	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	621							zinc ion binding	p.D620N(1)		breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCTCTCCCAACATCTTCCAT	0.627000														30			14		0	0	0.00316338	0	0
MYH8	4626	broad.mit.edu	37	17	10296203	10296203	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:10296203G>A	uc002gmm.2	-	36	5503	c.5408C>T	c.(5407-5409)gCc>gTc	p.A1803V	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1803					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.E1802D(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CAGCTGCTCGGCCTCATCTAG	0.572000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					40			70		0	0	0.00361006	0	0
PSG2	5670	broad.mit.edu	37	19	43579633	43579633	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:43579633C>T	uc002ovr.3	-	2	754	c.582G>A	c.(580-582)caG>caA	p.Q194Q	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	194	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TTTCGGACAGCTGAAACCTAT	0.493000														157			91		0	0	0.00361006	0	0
SIN3A	25942	broad.mit.edu	37	15	75664325	75664325	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:75664325G>T	uc002bai.3	-	20	4076	c.3817C>A	c.(3817-3819)Cct>Act	p.P1273T	SIN3A_uc002baj.3_Missense_Mutation_p.P1273T|SIN3A_uc010uml.2_Missense_Mutation_p.P1273T	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	1273					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TGCAGTTAAGGGGCTTTGAAT	0.498000														35			21		1.10513e-12	2.51863e-12	0.00229938	1	0
SNRNP40	9410	broad.mit.edu	37	1	31742085	31742085	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:31742085G>A	uc010oge.2	-	6	824	c.778C>T	c.(778-780)Cgt>Tgt	p.R260C	SNRNP40_uc009vtt.3_5'UTR|SNRNP40_uc001bso.3_Missense_Mutation_p.R260C	NM_004814	NP_004805	Q96DI7	SNR40_HUMAN	Homo sapiens small nuclear ribonucleoprotein 40kDa (U5) (SNRNP40), mRNA.	260						U5 snRNP|catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						TCCCAGACACGAACTGCAAAA	0.448000														82			40		0	0	0.00222228	0	0
GAS8	2622	broad.mit.edu	37	16	90097793	90097793	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:90097793C>T	uc002fqi.1	+	2	299	c.177C>T	c.(175-177)atC>atT	p.I59I	GAS8_uc010vps.1_Silent_p.I34I|GAS8_uc002fqh.2_5'UTR|GAS8_uc010vpt.1_Silent_p.I59I|GAS8_uc010vpu.1_5'UTR|GAS8_uc010vpv.1_Silent_p.I30I|GAS8_uc010cjc.1_5'UTR|GAS8_uc010vpw.1_5'UTR|GAS8_uc002fqj.1_5'UTR|C16orf3_uc002fqk.1_5'Flank	NM_001481	NP_001472	O95995	GAS8_HUMAN	Homo sapiens growth arrest-specific 8 (GAS8), transcript variant 1, mRNA.	59	Regulates microtubule-binding (By similarity).				negative regulation of cell proliferation|sperm motility	Golgi apparatus|cilium|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		GGGACAAGATCCACACCTTCT	0.622000														28			21		0	0	0.00278032	0	0
CACNA1B	774	broad.mit.edu	37	9	140967990	140967990	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:140967990G>A	uc004cog.3	+	31	4864	c.4719G>A	c.(4717-4719)ctG>ctA	p.L1573L	CACNA1B_uc022bqn.1_Silent_p.L1573L|CACNA1B_uc004coi.3_Silent_p.L787L|CACNA1B_uc004cok.1_5'Flank|CACNA1B_uc010ncp.1_5'Flank	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1575					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTGCGCGGCTGATCAAGCTGC	0.577000														75			7		0	0	0.000442599	0	0
SH2D4B	387694	broad.mit.edu	37	10	82369275	82369275	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:82369275G>A	uc001kck.1	+	5	1383	c.953G>A	c.(952-954)aGg>aAg	p.R318K	SH2D4B_uc001kcl.1_Missense_Mutation_p.R270K|SH2D4B_uc001kcm.1_Missense_Mutation_p.R65K	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	Homo sapiens SH2 domain containing 4B (SH2D4B), transcript variant 1, mRNA.	317										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			GGCTTCGAGAGGAACACCAAG	0.592000														51			15		0	0	0.00074312	0	0
KIFC1	3833	broad.mit.edu	37	6	33365810	33365810	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:33365810C>T	uc003oef.4	+	1	467	c.17C>T	c.(16-18)tCc>tTc	p.S6F	KIFC1_uc011drf.2_Missense_Mutation_p.S6F|BC146941_uc011drg.2_5'Flank	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	Homo sapiens kinesin family member C1 (KIFC1), mRNA.	6					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CAACAGAGGTCCCCCCTATTG	0.522000														57			36		0	0	0.00148497	0	0
SENP5	205564	broad.mit.edu	37	3	196613461	196613461	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:196613461C>T	uc003fwz.4	+	1	1658	c.1409C>T	c.(1408-1410)cCc>cTc	p.P470L	SENP5_uc011bty.2_Missense_Mutation_p.P470L	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 5 (SENP5), mRNA.	470					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		CTGGAGGCTCCCTTGGTGTGC	0.478000														35			31		0	0	0.00178596	0	0
NAP1L3	4675	broad.mit.edu	37	X	92927395	92927395	+	Silent	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:92927395A>G	uc004efq.3	-	0	1288	c.909T>C	c.(907-909)ccT>ccC	p.P303P	FAM133A_uc022bzw.1_5'Flank|FAM133A_uc022bzu.1_5'Flank|FAM133A_uc004efr.2_5'Flank|FAM133A_uc022bzv.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	Homo sapiens nucleosome assembly protein 1-like 3 (NAP1L3), mRNA.	303					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						CTTCTCTTTTAGGCTTTCCCT	0.438000														20			28		0	0	0.00106085	0	0
KCNK1	3775	broad.mit.edu	37	1	233802528	233802528	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:233802528C>T	uc010pxo.1	+	1	711	c.543C>T	c.(541-543)atC>atT	p.I181I		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	181						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TGGTGGCCATCGTCCATGCCG	0.602000														35			50		0	0	0.00361006	0	0
ATP8B1	5205	broad.mit.edu	37	18	55361813	55361813	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr18:55361813C>T	uc002lgw.3	-	11	1149	c.1029_splice	c.e11+1	p.T343_splice	LOC100505549_uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA.	343					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				AAAATAAATACCGTGTAAACC	0.308000														4			7		0	0	0.00307968	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110456087	110456087	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:110456087A>G	uc003yne.3	+	36	4851	c.4747A>G	c.(4747-4749)Aca>Gca	p.T1583A		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1583	IPT/TIG 8.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGAACTAATAACAATTATTGG	0.313000										HNSCC(38;0.096)				47			19		0	0	0.00188189	0	0
PIN1	5300	broad.mit.edu	37	19	9949200	9949200	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:9949200G>A	uc002mml.2	+	1	285	c.147G>A	c.(145-147)caG>caA	p.Q49Q	PIN1_uc002mmk.2_Silent_p.Q49Q|PIN1_uc021uor.1_Non-coding_Transcript|PIN1_uc002mmn.2_Non-coding_Transcript	NM_006221	NP_006212	Q13526	PIN1_HUMAN	Homo sapiens peptidylprolyl cis/trans isomerase, NIMA-interacting 1 (PIN1), transcript variant 1, mRNA.	49					cell cycle|negative regulation of ERK1 and ERK2 cascade|negative regulation of cell motility|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of type I interferon production|positive regulation of Rho GTPase activity|positive regulation of ubiquitin-protein ligase activity|protein folding|regulation of mitosis|regulation of pathway-restricted SMAD protein phosphorylation	nucleoplasm	GTPase activating protein binding|mitogen-activated protein kinase kinase binding|peptidyl-prolyl cis-trans isomerase activity|phosphoserine binding|phosphothreonine binding			skin(3)	3						AAAACGGGCAGGGGGAGCCTG	0.662000														11			7		0	0	0.00198382	0	0
SAMD3	154075	broad.mit.edu	37	6	130465718	130465718	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:130465718G>A	uc003qbw.3	-	11	1838	c.1510C>T	c.(1510-1512)Cct>Tct	p.P504S	SAMD3_uc003qbx.3_Missense_Mutation_p.P504S	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA.	504										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TTCAAAGAAGGAAAATAAGGA	0.388000														49			28		0	0	0.00127121	0	0
ZPLD1	131368	broad.mit.edu	37	3	102183090	102183090	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:102183090C>T	uc003dvt.1	+	6	904	c.804C>T	c.(802-804)ttC>ttT	p.F268F	ZPLD1_uc003dvs.1_Silent_p.F252F|ZPLD1_uc011bhg.1_Silent_p.F252F	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	252	ZP.					integral to membrane		p.F268Y(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ATGATCTTTTCCTTAGGTAAG	0.313000														93			43		0	0	0.00222228	0	0
OR14C36	127066	broad.mit.edu	37	1	248512232	248512232	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:248512232C>T	uc010pzl.2	+	0	156	c.156C>T	c.(154-156)agC>agT	p.S52S		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA.	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GTGACAGCAGCCTTCACATGC	0.443000														80			21		0	0	0.00188189	0	0
MUC17	140453	broad.mit.edu	37	7	100683297	100683297	+	Missense_Mutation	SNP	G	A	A	rs141281393	byFrequency	TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:100683297G>A	uc003uxp.1	+	2	8653	c.8600G>A	c.(8599-8601)gGa>gAa	p.G2867E	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2867	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCTAGTGAAGGAAGTACTCTA	0.493000														226			106		0	0	0.00361006	0	0
TEX11	56159	broad.mit.edu	37	X	69849514	69849514	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:69849514C>T	uc004dyl.3	-	18	1762	c.1600G>A	c.(1600-1602)Gag>Aag	p.E534K	TEX11_uc004dyk.3_Missense_Mutation_p.E209K|TEX11_uc004dym.3_Missense_Mutation_p.E519K	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.	534							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					GAACCTCTCTCTGCAACTAGA	0.328000														27			49		0	0	0.00361006	0	0
OR10G7	390265	broad.mit.edu	37	11	123909373	123909373	+	Silent	SNP	G	A	A	rs141545635	byFrequency	TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:123909373G>A	uc001pzq.1	-	0	336	c.336C>T	c.(334-336)ttC>ttT	p.F112F		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTGTGTAGAGGAAACACTCGG	0.567000														42			20		0	0	0.000720815	0	0
SERPINF2	5345	broad.mit.edu	37	17	1650749	1650749	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:1650749C>T	uc002ftk.1	+	6	735	c.658C>T	c.(658-660)Ctc>Ttc	p.L220F	SERPINF2_uc010vqr.1_Missense_Mutation_p.L156F|SERPINF2_uc021tnm.1_Missense_Mutation_p.L220F	NM_000934	NP_001159392	P08697	A2AP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 (SERPINF2), transcript variant 1, mRNA.	220					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	TCAGGAATTCCTCTCTGGGCT	0.592000														21			17		0	0	0.00152264	0	0
SLC28A1	9154	broad.mit.edu	37	15	85476404	85476404	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:85476404C>T	uc002blg.3	+	12	1314	c.1112C>T	c.(1111-1113)tCt>tTt	p.S371F	SLC28A1_uc010bnb.3_Missense_Mutation_p.S371F|SLC28A1_uc010upe.2_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.S371F|SLC28A1_uc010upg.1_Missense_Mutation_p.S371F	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	371					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ATTGCAGCCTCTGTGATGGCT	0.567000														108			62		0	0	0.00361006	0	0
FAM193A	8603	broad.mit.edu	37	4	2659588	2659588	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:2659588G>A	uc010ick.3	+	6	1098	c.1097G>A	c.(1096-1098)aGa>aAa	p.R366K	FAM193A_uc003gfd.3_Missense_Mutation_p.R166K|FAM193A_uc011bvm.2_Missense_Mutation_p.R190K|FAM193A_uc011bvn.2_Missense_Mutation_p.R166K|FAM193A_uc010icl.3_Missense_Mutation_p.R166K|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Missense_Mutation_p.R20K	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	166										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TTTAAACAAAGAAGATTCATT	0.358000														296			105		0	0	0.00361006	0	0
PRRC2B	84726	broad.mit.edu	37	9	134321958	134321958	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:134321958C>G	uc004can.4	+	5	839	c.784C>G	c.(784-786)Cga>Gga	p.R262G	PRRC2B_uc010mzj.1_5'Flank|PRRC2B_uc004cam.1_Missense_Mutation_p.R262G	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	262							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TCAGCCTGTCCGAAAAGGGGC	0.537000														12			10		0	0	0.000673444	0	0
SVEP1	79987	broad.mit.edu	37	9	113173840	113173840	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:113173840A>C	uc010mtz.3	-	36	6488	c.6151T>G	c.(6151-6153)Tac>Gac	p.Y2051D	SVEP1_uc010mty.3_5'UTR	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2051	Sushi 11.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCTAGGCTGTAACCATCAGAG	0.537000														13			10		0	0	0.000442599	0	0
THRAP3	9967	broad.mit.edu	37	1	36752234	36752235	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:36752234_36752235CC>TT	uc001cae.4	+	3	627_628	c.403_404CC>TT	c.(403-405)cct>TTt	p.P135F	THRAP3_uc001caf.4_Missense_Mutation_p.P135F|THRAP3_uc001cag.1_Missense_Mutation_p.P135F	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	135	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAGAAGGTCCCCTTCACCAAGG	0.540000			T	USP6	aneurysmal bone cysts									178			93		0	0	6.4e-05	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52991715	52991715	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:52991715G>T	uc001cty.2	-	1	491	c.238C>A	c.(238-240)Ctt>Att	p.L80I	ZCCHC11_uc001ctx.2_Missense_Mutation_p.L80I|ZCCHC11_uc009vze.1_Missense_Mutation_p.L80I|ZCCHC11_uc009vzf.1_Intron|ZCCHC11_uc001cub.3_Missense_Mutation_p.L80I|ZCCHC11_uc001cuc.2_Non-coding_Transcript|ZCCHC11_uc001cud.3_Missense_Mutation_p.L80I	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA.	80					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance	cytoplasm|nucleolus	RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GGACCTGGAAGGTTGGCAGCA	0.348000														145			70		2.67039e-37	6.13839e-37	0.00361006	1	0
NCOA1	8648	broad.mit.edu	37	2	24929502	24929502	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:24929502C>T	uc002rfk.3	+	10	1422	c.1163C>T	c.(1162-1164)cCc>cTc	p.P388L	NCOA1_uc010eye.3_Missense_Mutation_p.P388L|NCOA1_uc002rfi.3_Missense_Mutation_p.P237L|NCOA1_uc002rfj.3_Missense_Mutation_p.P388L|NCOA1_uc002rfl.3_Missense_Mutation_p.P388L	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	388	Interaction with STAT3.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGAGTAAATCCCTCGGTCAAT	0.463000			T	PAX3	alveolar rhadomyosarcoma									41			12		0	0	0.00316338	0	0
RASSF4	83937	broad.mit.edu	37	10	45487389	45487389	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:45487389G>A	uc001jbp.3	+	8	2486	c.937G>A	c.(937-939)Gac>Aac	p.D313N	RASSF4_uc001jbo.3_Missense_Mutation_p.D282N|RASSF4_uc009xmn.3_Missense_Mutation_p.D212N|RASSF4_uc001jbq.3_Missense_Mutation_p.D179N|RASSF4_uc001jbt.3_Missense_Mutation_p.D239N			Q9H2L5	RASF4_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 4 (RASSF4), mRNA.	282	SARAH.				cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GCCGGTGCTGGACAGTTTTGT	0.358000														74			22		0	0	0.000878237	0	0
TDRD1	56165	broad.mit.edu	37	10	115962926	115962926	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:115962926G>A	uc001lbg.1	+	6	945	c.792G>A	c.(790-792)atG>atA	p.M264I	TDRD1_uc001lbf.3_Missense_Mutation_p.M255I|TDRD1_uc001lbh.1_Missense_Mutation_p.M255I|TDRD1_uc001lbi.1_Missense_Mutation_p.M255I|TDRD1_uc010qsc.2_5'Flank|TDRD1_uc001lbj.3_5'Flank	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	264					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AGAAAACCATGGAAATAAAGG	0.368000														18			5		0	0	0.000602214	0	0
KRT78	196374	broad.mit.edu	37	12	53242363	53242363	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:53242363G>A	uc001sbc.1	-	0	416	c.352C>T	c.(352-354)Ctc>Ttc	p.L118F		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	118	Coil 1A.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						TGGTTGTTGAGGGTTCTGATC	0.542000														24			14		0	0	0.00244969	0	0
GMDS	2762	broad.mit.edu	37	6	1742793	1742793	+	Missense_Mutation	SNP	C	T	T	rs146652291	byFrequency	TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:1742793C>T	uc003mtq.3	-	7	1011	c.799G>A	c.(799-801)Gag>Aag	p.E267K	GMDS_uc021ykn.1_Missense_Mutation_p.E237K	NM_001500	NP_001491	O60547	GMDS_HUMAN	Homo sapiens GDP-mannose 4,6-dehydratase (GMDS), transcript variant 1, mRNA.	267					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		GDP-mannose 4,6-dehydratase activity|coenzyme binding	p.E267E(1)	GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TCCTCCGGCTCATCATTCTGC	0.443000														59			9		0	0	0.000978159	0	0
KCNIP4	80333	broad.mit.edu	37	4	20884291	20884291	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:20884291C>T	uc021xmt.1	-	1	223	c.103G>A	c.(103-105)Gag>Aag	p.E35K	KCNIP4_uc003gqe.2_Intron|KCNIP4_uc003gqf.1_Intron|KCNIP4_uc003gqg.1_Intron|KCNIP4_uc003gqh.1_Intron|KCNIP4_uc003gqi.1_Intron|KCNIP4_uc021xmu.1_Intron|KCNIP4_uc021xms.1_5'UTR	NM_025221	NP_671711	Q6PIL6	KCIP4_HUMAN	Homo sapiens Kv channel interacting protein 4 (KCNIP4), transcript variant 1, mRNA.	35	KIS (By similarity).					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				ATGAGCCGCTCTTTAATGCTG	0.458000														39			22		0	0	0.00127121	0	0
ZNF236	7776	broad.mit.edu	37	18	74607011	74607011	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr18:74607011C>T	uc002lmi.3	+	9	1652	c.1454C>T	c.(1453-1455)cCc>cTc	p.P485L	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	485					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CATGTGTGTCCCTACTGCGCC	0.667000														30			21		0	0	0.00395357	0	0
PATZ1	23598	broad.mit.edu	37	22	31740408	31740408	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:31740408C>T	uc003akq.3	-	0	1842	c.1181G>A	c.(1180-1182)aGa>aAa	p.R394K	PATZ1_uc003akp.3_Missense_Mutation_p.R394K|PATZ1_uc003akr.3_Missense_Mutation_p.R394K|PATZ1_uc003aks.3_Missense_Mutation_p.R394K|Em:AC005003.4_uc003akt.3_5'Flank	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	Homo sapiens POZ (BTB) and AT hook containing zinc finger 1 (PATZ1), transcript variant 1, mRNA.	394				R -> K (in Ref. 1; AAF32518).	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						GCGGTCTTTTCTCTTGAACCG	0.557000														59			33		0	0	0.00283554	0	0
FAM200A	221786	broad.mit.edu	37	7	99145993	99145994	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:99145993_99145994GG>AA	uc003ura.3	-	1	417_418	c.37_38CC>TT	c.(37-39)cca>TTa	p.P13L	FAM200A_uc003urb.3_Missense_Mutation_p.P13L|FAM200A_uc022aia.1_Missense_Mutation_p.P13L	NM_145111	NP_659802	Q8TCP9	F200A_HUMAN	Homo sapiens family with sequence similarity 200, member A (FAM200A), mRNA.	13						integral to membrane	nucleic acid binding			endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						GGTACCCCCTGGAGACAAATCT	0.455000														70			36		0	0	6.4e-05	0	0
BTBD7	55727	broad.mit.edu	37	14	93708971	93708971	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:93708971T>C	uc001ybo.3	-	10	3373	c.3047A>G	c.(3046-3048)cAt>cGt	p.H1016R	BTBD7_uc010aur.3_Missense_Mutation_p.H541R|BTBD7_uc010two.2_Missense_Mutation_p.H836R|BTBD7_uc001ybp.3_Missense_Mutation_p.H665R	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	1016										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TCTGTGTAGATGCCCGTCAGG	0.502000														113			34		0	0	0.00111076	0	0
BPTF	2186	broad.mit.edu	37	17	65850238	65850238	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:65850238C>T	uc002jgf.3	+	1	857	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C	BPTF_uc002jge.3_Missense_Mutation_p.R266C|BPTF_uc010wqm.1_Missense_Mutation_p.R266C	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	266	DDT.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATCTCCTTTTCGCTTTGAGGA	0.443000														79			30		0	0	0.00127121	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459956	107459956	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:107459956C>T	uc002tdq.3	-	1	597	c.478G>A	c.(478-480)Gag>Aag	p.E160K	ST6GAL2_uc002tdr.3_Missense_Mutation_p.E160K|ST6GAL2_uc002tds.3_Missense_Mutation_p.E160K	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	160					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						AAAGCCCCCTCCCGTGGGCCT	0.647000														93			27		0	0	0.000878237	0	0
ATXN2	6311	broad.mit.edu	37	12	111895157	111895157	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:111895157G>C	uc001tsj.3	-	21	3539	c.3377C>G	c.(3376-3378)aCg>aGg	p.T1126R	ATXN2_uc001tsh.3_Missense_Mutation_p.T861R|ATXN2_uc001tsi.3_Missense_Mutation_p.T819R|ATXN2_uc001tsk.3_Non-coding_Transcript|ATXN2_uc001tsl.1_Missense_Mutation_p.T127R	NM_002973	NP_002964	Q99700	ATX2_HUMAN	Homo sapiens ataxin 2 (ATXN2), mRNA.	1126					RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	RNA binding|protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						AAGGGAGCCCGTGGAAACTAA	0.512000														43			12		0	0	0.00244969	0	0
USP17L2	377630	broad.mit.edu	37	8	11994778	11994778	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:11994778C>T	uc003wvc.1	-	0	1492	c.1492G>A	c.(1492-1494)Gag>Aag	p.E498K	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	498					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TTCACGGACTCCTGATCTGTC	0.512000														103			6		0	0	0.00116845	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204218005	204218005	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:204218005C>T	uc001hau.3	-	11	2085	c.1768G>A	c.(1768-1770)Gat>Aat	p.D590N		NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	590										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TGCAGTGAATCCTTTTTGTGT	0.582000														49			12		0	0	0.00316338	0	0
SYCE2	256126	broad.mit.edu	37	19	13011463	13011463	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:13011463C>T	uc002mvr.2	-	4	322	c.307_splice	c.e4-1	p.V103_splice		NM_001105578	NP_001099048	Q6PIF2	SYCE2_HUMAN	Homo sapiens synaptonemal complex central element protein 2 (SYCE2), mRNA.	103					cell division	central element				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						GATCCGAAACCTGTTAAACAA	0.363000														62			12		0	0	0.00136819	0	0
SNRK	54861	broad.mit.edu	37	3	43381846	43381846	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:43381846C>T	uc003cms.4	+	4	1131	c.799C>T	c.(799-801)Cct>Tct	p.P267S	SNRK_uc003cmt.4_Missense_Mutation_p.P267S|SNRK_uc010hik.3_Missense_Mutation_p.P267S|SNRK_uc011azr.2_Missense_Mutation_p.P61S	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	Homo sapiens SNF related kinase (SNRK), transcript variant 1, mRNA.	267	Protein kinase.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		TGAAAATCATCCTTGGCTTCA	0.438000														131			73		0	0	0.00361006	0	0
MTUS2	23281	broad.mit.edu	37	13	29600048	29600048	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:29600048G>A	uc001usl.4	+	0	1301	c.1243G>A	c.(1243-1245)Ggg>Agg	p.G415R		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	405						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TTCCTTAGGAGGGGCTGATAA	0.542000														4			15		0	0	0.00316338	0	0
CBY1	25776	broad.mit.edu	37	22	39064087	39064088	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:39064087_39064088CC>TT	uc003awb.3	+	2	304_305	c.28_29CC>TT	c.(28-30)ccg>TTg	p.P10L	CBY1_uc011any.1_Missense_Mutation_p.P10L|CBY1_uc003awc.3_Missense_Mutation_p.P10L	NM_001002880	NP_056188	Q9Y3M2	CBY1_HUMAN	Homo sapiens chibby homolog 1 (Drosophila) (CBY1), transcript variant 2, mRNA.	10					cardiac muscle cell differentiation|fat cell differentiation|negative regulation of transcription, DNA-dependent|protein localization	nuclear speck|trans-Golgi network	beta-catenin binding|identical protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	Melanoma(58;0.04)					TACGTTCAGTCCGAAGAAGACA	0.540000														35			12		0	0	6.4e-05	0	0
SPOCD1	90853	broad.mit.edu	37	1	32280743	32280743	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:32280743G>A	uc001bts.1	-	1	250	c.192C>T	c.(190-192)gcC>gcT	p.A64A	SPOCD1_uc001btu.3_Silent_p.A64A|SPOCD1_uc001btv.3_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	64					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CACCTCGAAGGGCCTCCTTCC	0.677000														26			8		0	0	0.00307968	0	0
CES3	23491	broad.mit.edu	37	16	67006379	67006379	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:67006379C>T	uc002eqt.3	+	10	1491	c.1412C>T	c.(1411-1413)cCc>cTc	p.P471L	CES3_uc010cdz.3_Missense_Mutation_p.P471L|CES3_uc010viw.2_Missense_Mutation_p.P110L	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA.	471						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.P471F(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		TTCGGAGGTCCCTTCCTCATG	0.582000														91			39		0	0	0.00170553	0	0
SERPINB13	5275	broad.mit.edu	37	18	61256969	61256969	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr18:61256969G>A	uc010xep.2	+	2	413	c.245G>A	c.(244-246)gGa>gAa	p.G82E	SERPINB13_uc002ljc.3_Intron|SERPINB13_uc002ljd.3_Intron|SERPINB13_uc010xeq.2_Intron|SERPINB13_uc010xer.2_5'UTR	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.	75					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	p.V82I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						AAGGCTGAAGGAAAAGAGGTG	0.398000														13			14		0	0	0.00074312	0	0
IL1R1	3554	broad.mit.edu	37	2	102791180	102791180	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:102791180C>T	uc002tbq.3	+	9	1443	c.1125C>T	c.(1123-1125)ctC>ctT	p.L375L	IL1R1_uc010fix.3_Silent_p.L375L|IL1R1_uc002tbr.3_Silent_p.L375L	NM_000877	NP_000868	P14778	IL1R1_HUMAN	Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	375					innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	ATGATTTTCTCCCAATAAAAG	0.348000														45			22		0	0	0.00332997	0	0
OR10R2	343406	broad.mit.edu	37	1	158449871	158449871	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:158449871C>T	uc010pik.2	+	0	204	c.204C>T	c.(202-204)gtC>gtT	p.V68V	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TTATCAGTGTCATCCACCTGG	0.428000														49			46		0	0	0.00285205	0	0
CSHL1	1444	broad.mit.edu	37	17	61987797	61987797	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:61987797C>T	uc002jda.1	-	2	351	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	CSHL1_uc002jcz.1_Missense_Mutation_p.E74K|CSHL1_uc002jdb.1_Missense_Mutation_p.E3K|CSHL1_uc002jdc.1_Missense_Mutation_p.E14K|CSHL1_uc002jdd.1_Missense_Mutation_p.E35K|CSHL1_uc021ubn.1_Silent_p.R127R	NM_022579	NP_001309	Q14406	CSHL_HUMAN	Homo sapiens chorionic somatomammotropin hormone-like 1 (CSHL1), transcript variant 1, mRNA.	97						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						TGCTGCGTTTCCTCCATGTTG	0.557000														76			57		0	0	0.00361006	0	0
BVES	11149	broad.mit.edu	37	6	105564670	105564670	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:105564670G>A	uc003pqw.3	-	5	879	c.722C>T	c.(721-723)tCa>tTa	p.S241L	BVES_uc003pqx.3_Missense_Mutation_p.S241L|BVES_uc003pqy.3_Missense_Mutation_p.S241L	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	Homo sapiens blood vessel epicardial substance (BVES), transcript variant B, mRNA.	241					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of Rac GTPase activity|regulation of cell shape|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				GAAAGGTTCTGATTCCAGAAA	0.338000														42			13		0	0	0.00185496	0	0
CHM	1121	broad.mit.edu	37	X	85212875	85212875	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:85212875G>A	uc004eet.3	-	6	955	c.925C>T	c.(925-927)Cct>Tct	p.P309S	CHM_uc011mqz.2_Missense_Mutation_p.P161S	NM_000390	NP_000381	P24386	RAE1_HUMAN	Homo sapiens choroideremia (Rab escort protein 1) (CHM), transcript variant 1, mRNA.	309					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TATTCATCAGGATATTTCTCA	0.303000														10			19		0	0	0.00278032	0	0
MYO15A	51168	broad.mit.edu	37	17	18023559	18023559	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:18023559G>A	uc021trm.1	+	0	1664	c.1445G>A	c.(1444-1446)cGa>cAa	p.R482Q	MYO15A_uc021trl.1_Missense_Mutation_p.R482Q	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	482	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity	p.R482*(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTCTTCCCGCGACCCCAGGTG	0.632000														7			15		0	0	0.00074312	0	0
EPHA3	2042	broad.mit.edu	37	3	89521633	89521633	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:89521633G>A	uc003dqy.3	+	15	2935	c.2710G>A	c.(2710-2712)Gac>Aac	p.D904N	EPHA3_uc021xbf.1_Missense_Mutation_p.D904N	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	904						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CCTTCTTCTGGACCAAAGCAA	0.468000										TSP Lung(6;0.00050)				135			51		0	0	0.00361006	0	0
MYO18B	84700	broad.mit.edu	37	22	26264314	26264314	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:26264314G>A	uc003abz.1	+	21	4163	c.3913G>A	c.(3913-3915)Gat>Aat	p.D1305N	MYO18B_uc003aca.1_Missense_Mutation_p.D1186N|MYO18B_uc010guy.1_Missense_Mutation_p.D1187N|MYO18B_uc010guz.1_Missense_Mutation_p.D1186N|MYO18B_uc011aka.1_Missense_Mutation_p.D459N|MYO18B_uc011akb.1_Missense_Mutation_p.D818N	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1305	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGAGACCCTGGATCTGGAAAA	0.527000														11			6		0	0	0.000274275	0	0
MACC1	346389	broad.mit.edu	37	7	20199187	20199187	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:20199187G>A	uc003sus.4	-	4	1106	c.797C>T	c.(796-798)tCg>tTg	p.S266L	MACC1_uc010kug.3_Missense_Mutation_p.S266L	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	266					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	p.L265R(1)		endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CACAGTGCACGAAAGATCATG	0.473000														37			21		0	0	0.00278032	0	0
INSR	3643	broad.mit.edu	37	19	7163163	7163164	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:7163163_7163164GG>TT	uc002mgd.1	-	8	2017_2018	c.1908_1909CC>AA	c.(1906-1911)tcccag>tcAAag	p.Q637K	INSR_uc002mge.1_Missense_Mutation_p.Q637K|INSR_uc002mgf.3_Missense_Mutation_p.Q637K	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	637	Fibronectin type-III 1.				G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGAATAATCTGGGATGATGAGT	0.515000														463			13		0	0	6.4e-05	0	0
C6orf165	154313	broad.mit.edu	37	6	88173910	88173910	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:88173910A>G	uc003plv.3	+	12	1934	c.1811A>G	c.(1810-1812)aAg>aGg	p.K604R	SLC35A1_uc003plx.3_Non-coding_Transcript|C6orf165_uc003plw.3_Missense_Mutation_p.K416R|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	604										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		CGTGGAGGAAAGAGCGAAATC	0.463000														28			6		0	0	0.00198382	0	0
KCNQ1	3784	broad.mit.edu	37	11	2869092	2869092	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:2869092C>T	uc001lwn.3	+	15	1998	c.1890C>T	c.(1888-1890)ccC>ccT	p.P630P	KCNQ1_uc001lwo.3_Silent_p.P503P	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	630				LHGGSTPGSGGPPREGGAHITQPCGS -> MQQGGPTCNSR SQVVASNE (in Ref. 4; AAM94040).	blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	GCGGCGGCCCCCCCAGAGAGG	0.701000														59			11		0	0	0.00244969	0	0
CHPF2	54480	broad.mit.edu	37	7	150932643	150932643	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:150932643G>A	uc003wjr.1	+	1	2286	c.773G>A	c.(772-774)tGg>tAg	p.W258*	CHPF2_uc003wjq.1_Nonsense_Mutation_p.W250*|CHPF2_uc022aqb.1_5'Flank	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	Homo sapiens chondroitin polymerizing factor 2 (CHPF2), mRNA.	258						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CCTGACGAGTGGCTTGGACGC	0.592000														60			34		0	0	0.00283554	0	0
SFMBT2	57713	broad.mit.edu	37	10	7290601	7290601	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:7290601T>G	uc009xio.2	-	7	972	c.881A>C	c.(880-882)gAt>gCt	p.D294A	SFMBT2_uc001ijn.2_Missense_Mutation_p.D294A|SFMBT2_uc010qay.2_Missense_Mutation_p.D294A	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	294					regulation of transcription, DNA-dependent	nucleus		p.A293S(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GCTTCGCAAATCTGCGTGATC	0.473000														28			5		0	0	0.000602214	0	0
SEC16A	9919	broad.mit.edu	37	9	139371701	139371701	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:139371701G>A	uc004chx.3	-	2	676	c.367C>T	c.(367-369)Ccg>Tcg	p.P123S	SEC16A_uc004chv.4_5'Flank|SEC16A_uc004chw.3_Missense_Mutation_p.P123S|SEC16A_uc010nbn.3_Missense_Mutation_p.P123S|SEC16A_uc010nbo.1_Missense_Mutation_p.P123S	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	2093					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCAGAAAACGGACTGGCATGT	0.582000														40			41		0	0	0.00148497	0	0
C12orf12	196477	broad.mit.edu	37	12	91347709	91347709	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:91347709G>A	uc001tbj.3	-	0	1245	c.811C>T	c.(811-813)Ctt>Ttt	p.L271F		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	271	Glu-rich.									NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						AGCGGGGCAAGAGACTGGTTT	0.537000														282			81		0	0	0.00361006	0	0
DHX29	54505	broad.mit.edu	37	5	54557275	54557275	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:54557275G>A	uc003jpx.3	-	24	4001	c.3881C>T	c.(3880-3882)cCa>cTa	p.P1294L	DHX29_uc010ivw.3_Non-coding_Transcript	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 29 (DHX29), mRNA.	1294							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				AAGTAAAACTGGAAAAGGGGT	0.353000														78			19		0	0	0.00229938	0	0
PLXNB2	23654	broad.mit.edu	37	22	50724285	50724285	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:50724285G>A	uc003bkv.4	-	10	2125	c.2032C>T	c.(2032-2034)Ccc>Tcc	p.P678S		NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	678					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		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)		TGGTTCATGGGGATCACCAGG	0.647000														33			29		0	0	0.00178596	0	0
C1orf127	148345	broad.mit.edu	37	1	11017675	11017675	+	Missense_Mutation	SNP	C	T	T	rs12567143		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:11017675C>T	uc010oao.2	-	6	691	c.691G>A	c.(691-693)Gag>Aag	p.E231K	C1orf127_uc001ars.2_Missense_Mutation_p.E92K|C1orf127_uc001arr.2_Missense_Mutation_p.E92K	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	82										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CCACTGACCTCCCACCTCTGA	0.587000														16			17		0	0	0.000958276	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21549984	21549984	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:21549984C>T	uc001vzp.3	+	13	2986	c.2957C>T	c.(2956-2958)tCg>tTg	p.S986L	ARHGEF40_uc001vzo.1_Missense_Mutation_p.S65L|ARHGEF40_uc010aij.3_Non-coding_Transcript|ARHGEF40_uc010tln.2_Missense_Mutation_p.S272L	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 40 (ARHGEF40), mRNA.	986					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CGCAGCCCCTCGCCCAGCCTC	0.711000														6			6		0	0	0.00307968	0	0
RFX6	222546	broad.mit.edu	37	6	117201716	117201716	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:117201716G>A	uc003pxm.3	+	2	453	c.390G>A	c.(388-390)gaG>gaA	p.E130E		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	130					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GGCTTGAAGAGAATTACATTG	0.353000														33			4		0	0	0.00024832	0	0
TTN	7273	broad.mit.edu	37	2	179444698	179444698	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:179444698G>A	uc021vsy.1	-	266	59837	c.59612C>T	c.(59611-59613)cCc>cTc	p.P19871L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P13566L|TTN_uc021vta.1_Missense_Mutation_p.P13499L|TTN_uc021vtb.1_Missense_Mutation_p.P13374L|AX746670_uc002umv.1_3'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20798	Ig-like 110.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTTCACCGGGATCACCAAT	0.428000														31			11		0	0	0.000978159	0	0
URB2	9816	broad.mit.edu	37	1	229772297	229772297	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:229772297C>T	uc001hts.1	+	3	2073	c.1937C>T	c.(1936-1938)tCg>tTg	p.S646L	URB2_uc009xfd.1_Missense_Mutation_p.S646L	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	646						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						AACCTCCCTTCGTTGCTCCCA	0.478000														287			82		0	0	0.00361006	0	0
SPTA1	6708	broad.mit.edu	37	1	158631086	158631086	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:158631086C>T	uc001fst.1	-	17	2777	c.2578G>A	c.(2578-2580)Gta>Ata	p.V860I		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	860					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTTCCTCTACCATTTTGTTT	0.428000														44			35		0	0	0.00428921	0	0
KIAA0754	643314	broad.mit.edu	37	1	39880123	39880123	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:39880123G>T	uc009vvt.1	+	0	4948	c.4186G>T	c.(4186-4188)Gca>Tca	p.A1396S	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	Homo sapiens KIAA0754 (KIAA0754), mRNA.	1260										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCCTCTGGCTGCAACCGCTGG	0.468000														44			22		9.95505e-16	2.27698e-15	0.00229938	1	0
ARID1B	57492	broad.mit.edu	37	6	157522414	157522414	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:157522414C>T	uc003qqp.3	+	16	4647	c.4647C>T	c.(4645-4647)tcC>tcT	p.S1549S	ARID1B_uc003qqo.3_Silent_p.S1562S|ARID1B_uc003qqn.3_Silent_p.S1602S	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1549	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.R1548C(1)|p.R1548H(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCCAGCGCTCCCTGGAGAACC	0.622000														86			23		0	0	0.00229938	0	0
CCDC73	493860	broad.mit.edu	37	11	32720870	32720870	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:32720870C>T	uc001mtv.3	-	6	360	c.316_splice	c.e6-1	p.G106_splice	CCDC73_uc001mtw.1_Splice_Site_p.G106_splice|CCDC73_uc009yjt.3_Splice_Site_p.G106_splice	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	106										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTGATATTTTCCCTTTAAGTA	0.259000														23			5		0	0	0.000602214	0	0
UBAP2L	9898	broad.mit.edu	37	1	154209586	154209586	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:154209586G>A	uc001fep.4	+	7	844	c.677G>A	c.(676-678)gGc>gAc	p.G226D	UBAP2L_uc009wot.3_Missense_Mutation_p.G226D|UBAP2L_uc010pek.2_Missense_Mutation_p.G218D|UBAP2L_uc010pel.2_Missense_Mutation_p.G236D|UBAP2L_uc010pen.2_Missense_Mutation_p.G140D	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	Homo sapiens ubiquitin associated protein 2-like (UBAP2L), transcript variant 1, mRNA.	226					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AACAACACTGGCCACTTTGAA	0.393000														82			21		0	0	0.00152264	0	0
ASAP1	50807	broad.mit.edu	37	8	131104224	131104224	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:131104224G>A	uc003yta.2	-	24	2795	c.2567C>T	c.(2566-2568)cCt>cTt	p.P856L	ASAP1_uc003ysz.2_Missense_Mutation_p.P667L|ASAP1_uc011liw.2_Missense_Mutation_p.P849L	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	856	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CTTACCCCAAGGAACTGCGCC	0.597000														104			38		0	0	0.00170553	0	0
CTNND1	1500	broad.mit.edu	37	11	57574431	57574431	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:57574431C>T	uc001nmc.4	+	11	2510	c.1939C>T	c.(1939-1941)Cct>Tct	p.P647S	CTNND1_uc001nlf.2_Missense_Mutation_p.P647S|CTNND1_uc021qjk.1_Missense_Mutation_p.P641S|CTNND1_uc001nlh.1_Missense_Mutation_p.P647S|CTNND1_uc001nlj.4_Missense_Mutation_p.P587S|CTNND1_uc001nlq.4_Missense_Mutation_p.P546S|CTNND1_uc001nlr.4_Missense_Mutation_p.P587S|CTNND1_uc001nln.4_Missense_Mutation_p.P641S|CTNND1_uc001nli.4_Missense_Mutation_p.P641S|CTNND1_uc001nlo.4_Missense_Mutation_p.P540S|CTNND1_uc001nlp.4_Missense_Mutation_p.P587S|CTNND1_uc001nlu.4_Missense_Mutation_p.P540S|CTNND1_uc001nlt.4_Missense_Mutation_p.P540S|CTNND1_uc001nlv.4_Missense_Mutation_p.P540S|CTNND1_uc001nls.4_Missense_Mutation_p.P540S|CTNND1_uc001nlw.4_Missense_Mutation_p.P540S|CTNND1_uc001nmf.4_Missense_Mutation_p.P647S|CTNND1_uc001nlx.4_Missense_Mutation_p.P324S|CTNND1_uc001nlz.4_Missense_Mutation_p.P324S|CTNND1_uc009ymn.3_Missense_Mutation_p.P318S|CTNND1_uc001nly.4_Missense_Mutation_p.P318S|CTNND1_uc001nmb.4_Missense_Mutation_p.P318S|CTNND1_uc001nma.4_Missense_Mutation_p.P318S|CTNND1_uc001nmd.4_Missense_Mutation_p.P593S|CTNND1_uc001nlk.4_Missense_Mutation_p.P593S|CTNND1_uc001nme.4_Missense_Mutation_p.P641S|CTNND1_uc001nll.4_Missense_Mutation_p.P587S|CTNND1_uc001nlm.4_Missense_Mutation_p.P641S|CTNND1_uc001nmi.4_Missense_Mutation_p.P546S|CTNND1_uc001nmg.4_Missense_Mutation_p.P587S|CTNND1_uc001nmh.4_Missense_Mutation_p.P641S	NM_001085458	NP_001078932	O60716	CTND1_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA.	647					Wnt receptor signaling pathway|adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AGTGGATTTCCCTAAAAGAAC	0.378000														7			5		0	0	0.000602214	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389905	150389905	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:150389905G>A	uc003who.3	+	2	619	c.531G>A	c.(529-531)ggG>ggA	p.G177G		NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA.	177						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATGTGGTGGGCGAATCTGTG	0.473000														40			27		0	0	0.00106085	0	0
BPIFB6	128859	broad.mit.edu	37	20	31622587	31622587	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:31622587G>A	uc010zuc.2	+	3	321	c.321G>A	c.(319-321)atG>atA	p.M107I	BPIFB6_uc010zud.2_Missense_Mutation_p.M46I	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	Homo sapiens BPI fold containing family B, member 6 (BPIFB6), mRNA.	107						extracellular region	lipid binding										GAGGGAACATGGAGATCATCG	0.587000														105			8		0	0	0.000274275	0	0
SMAP2	64744	broad.mit.edu	37	1	40881040	40881040	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:40881040C>T	uc001cfj.3	+	6	1083	c.668C>T	c.(667-669)tCc>tTc	p.S223F	SMAP2_uc010ojh.2_Missense_Mutation_p.S223F|SMAP2_uc001cfk.3_Missense_Mutation_p.S193F|SMAP2_uc021oma.1_Missense_Mutation_p.S218F|SMAP2_uc010oji.2_Missense_Mutation_p.S143F|SMAP2_uc010ojj.2_Missense_Mutation_p.S39F	NM_022733	NP_001185909	Q8WU79	SMAP2_HUMAN	Homo sapiens small ArfGAP2 (SMAP2), transcript variant 1, mRNA.	223	Interaction with clathrin heavy chains (By similarity).				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			CCTTCTTCTTCCGGTTCCAGA	0.453000														199			75		0	0	0.00361006	0	0
SMARCC1	6599	broad.mit.edu	37	3	47727614	47727614	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:47727614A>C	uc003crq.2	-	13	1428	c.1310T>G	c.(1309-1311)cTt>cGt	p.L437R	SMARCC1_uc011bbd.1_Missense_Mutation_p.L328R	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA.	437					chromatin remodeling|nervous system development|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		ATCTTCCCCAAGGTCAACTGA	0.388000														48			19		0	0	0.00121646	0	0
GLYATL2	219970	broad.mit.edu	37	11	58602012	58602012	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:58602012G>A	uc001nnd.4	-	5	906	c.775C>T	c.(775-777)Cat>Tat	p.H259Y	GLYATL2_uc009ymq.3_Missense_Mutation_p.H259Y	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	259						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TCTGCCACATGGAAATAAAAT	0.403000														55			16		0	0	0.00400662	0	0
WDR48	57599	broad.mit.edu	37	3	39133154	39133154	+	Silent	SNP	C	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:39133154C>A	uc003cit.3	+	16	1717	c.1707C>A	c.(1705-1707)ctC>ctA	p.L569L	WDR48_uc011ayt.1_Silent_p.L560L|WDR48_uc011ayu.1_Silent_p.L487L|WDR48_uc011ayv.1_Silent_p.L294L|WDR48_uc003ciu.3_Non-coding_Transcript	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN	Homo sapiens WD repeat domain 48 (WDR48), mRNA.	569					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTTTCTACCTCCAACCTCATG	0.284000														46			9		7.48243e-07	1.69611e-06	0.000442599	1	0
ALLC	55821	broad.mit.edu	37	2	3726125	3726125	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:3726125C>T	uc010ewt.3	+	3	313	c.152C>T	c.(151-153)aCc>aTc	p.T51I		NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA.	70							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GGCTGGGAGACCAGGAGGAAA	0.483000										HNSCC(21;0.051)				20			14		0	0	0.00244969	0	0
TMEM163	81615	broad.mit.edu	37	2	135470807	135470807	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:135470807G>A	uc002ttx.3	-	1	351	c.285C>T	c.(283-285)tcC>tcT	p.S95S	TMEM163_uc002tty.3_Non-coding_Transcript	NM_030923	NP_112185	Q8TC26	TM163_HUMAN	Homo sapiens transmembrane protein 163 (TMEM163), mRNA.	95						integral to membrane				endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		TGACAATGATGGAGAACCAGG	0.517000														51			28		0	0	0.00178596	0	0
ZNF536	9745	broad.mit.edu	37	19	31040061	31040061	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:31040061G>A	uc002nsu.1	+	3	3673	c.3535G>A	c.(3535-3537)Gat>Aat	p.D1179N	ZNF536_uc010edd.1_Missense_Mutation_p.D1179N	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.D1179N(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGAGAACAACGATGAAGAGGA	0.557000														52			20		0	0	0.00229938	0	0
CSDA	8531	broad.mit.edu	37	12	10856689	10856689	+	Missense_Mutation	SNP	G	A	A	rs141479423	byFrequency	TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:10856689G>A	uc001qyt.3	-	6	1082	c.839C>T	c.(838-840)cCg>cTg	p.P280L	CSDA_uc001qyu.3_Missense_Mutation_p.P211L	NM_003651	NP_003642	P16989	DBPA_HUMAN	Homo sapiens cold shock domain protein A (CSDA), transcript variant 1, mRNA.	280					negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	19	Glioma(1;0.155)					TCGATGAACCGGTCCCTGAAG	0.507000														80			42		0	0	0.00361006	0	0
CELF1	10658	broad.mit.edu	37	11	47497004	47497004	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:47497004G>A	uc001nfp.3	-	12	1559	c.1157C>T	c.(1156-1158)gCc>gTc	p.A386V	CELF1_uc001nfl.3_Missense_Mutation_p.A358V|CELF1_uc010rhm.2_Missense_Mutation_p.A357V|CELF1_uc001nfm.3_Missense_Mutation_p.A355V|CELF1_uc001nfk.2_Missense_Mutation_p.A384V|CELF1_uc001nfn.3_Missense_Mutation_p.A354V|CELF1_uc001nfr.1_Missense_Mutation_p.A358V	NM_001025596	NP_001020767	Q92879	CELF1_HUMAN	Homo sapiens CUGBP, Elav-like family member 1 (CELF1), transcript variant 3, mRNA.	358					RNA interference|embryo development|mRNA splice site selection|regulation of RNA splicing	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						CTGAGTGAGGGCCTCCATGGT	0.537000														72			17		0	0	0.00121646	0	0
COL28A1	340267	broad.mit.edu	37	7	7530255	7530255	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:7530255G>A	uc003src.1	-	11	1166	c.1049C>T	c.(1048-1050)cCt>cTt	p.P350L	COL28A1_uc011jxe.1_Missense_Mutation_p.L36F|COL28A1_uc003srd.3_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	350	Collagen-like 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		AGAACCATAAGGACCAGGAGG	0.433000														20			6		0	0	0.00307968	0	0
FANCI	55215	broad.mit.edu	37	15	89849247	89849247	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:89849247C>T	uc010bnp.1	+	31	3449	c.3359C>T	c.(3358-3360)tCt>tTt	p.S1120F	FANCI_uc002bnm.1_Missense_Mutation_p.S1060F|FANCI_uc002bnn.1_Intron|FANCI_uc002bnp.1_Missense_Mutation_p.S880F|FANCI_uc002bnq.1_Missense_Mutation_p.S533F	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Homo sapiens Fanconi anemia, complementation group I (FANCI), transcript variant 1, mRNA.	1120					DNA repair|cell cycle	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GAAGAGGCCTCTTCTCAGGCA	0.403000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					64			41		0	0	0.00361006	0	0
P4HA3	283208	broad.mit.edu	37	11	73984630	73984630	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:73984630C>T	uc010rrj.2	-	9	1401	c.1358G>A	c.(1357-1359)aGa>aAa	p.R453K	P4HA3_uc001ouy.4_Non-coding_Transcript|P4HA3_uc001ouz.3_Missense_Mutation_p.R453K			Q7Z4N8	P4HA3_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide III (P4HA3), mRNA.	453	Fe2OG dioxygenase.					endoplasmic reticulum lumen	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					TGACTTCATTCTGTAGAGGGG	0.388000														24			17		0	0	0.00152264	0	0
CHD4	1108	broad.mit.edu	37	12	6700880	6700880	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:6700880G>A	uc001qpo.3	-	20	3366	c.3202C>T	c.(3202-3204)Cgt>Tgt	p.R1068C	CHD4_uc001qpn.3_Missense_Mutation_p.R1061C|CHD4_uc001qpp.3_Missense_Mutation_p.R1065C	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	1068	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ATGAGTACACGATGCCCACCC	0.468000														84			35		0	0	0.00111076	0	0
ADAM7	8756	broad.mit.edu	37	8	24350607	24350607	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:24350607C>T	uc003xeb.3	+	15	1820	c.1707C>T	c.(1705-1707)ctC>ctT	p.L569L	ADAM7_uc003xec.3_Silent_p.L341L	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	569	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTTCCTCTCTCCTTGGAGAAG	0.398000														35			21		0	0	0.000878237	0	0
UMPS	7372	broad.mit.edu	37	3	124456749	124456749	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:124456749C>T	uc003ehl.4	+	2	751	c.645C>T	c.(643-645)ccC>ccT	p.P215P	UMPS_uc011bkb.2_Silent_p.P123P|UMPS_uc003ehn.4_Silent_p.P37P|UMPS_uc003ehm.4_Non-coding_Transcript|UMPS_uc011bka.2_Intron|UMPS_uc011bkc.2_Silent_p.P37P|UMPS_uc011bkd.2_Silent_p.P37P	NM_000373	NP_000364	P11172	UMPS_HUMAN	Homo sapiens uridine monophosphate synthetase (UMPS), transcript variant 1, mRNA.	215	Domain linker.				'de novo' UMP biosynthetic process|'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		ATGGTTCTCCCCTTTCTATAA	0.478000														35			15		0	0	0.00400662	0	0
ABCA10	10349	broad.mit.edu	37	17	67152008	67152008	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:67152008C>T	uc010dfa.1	-	29	4393	c.3514G>A	c.(3514-3516)Gaa>Aaa	p.E1172K	ABCA10_uc010wqs.1_Missense_Mutation_p.E164K|ABCA10_uc010wqt.1_Non-coding_Transcript	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	1172					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TGAACATCTTCATCTTCTTCT	0.428000														75			60		0	0	0.00361006	0	0
USP46	64854	broad.mit.edu	37	4	53468187	53468187	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:53468187G>A	uc003gzn.3	-	6	941	c.756C>T	c.(754-756)gcC>gcT	p.A252A	USP46_uc003gzm.4_Silent_p.A245A|USP46_uc011bzr.2_Silent_p.A229A|USP46_uc011bzs.2_Silent_p.A136A	NM_022832	NP_073743	P62068	UBP46_HUMAN	Homo sapiens ubiquitin specific peptidase 46 (USP46), transcript variant 1, mRNA.	252					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			TTAGGTGCAGGGCCAAGATCA	0.473000														71			38		0	0	0.00170553	0	0
SPG7	6687	broad.mit.edu	37	16	89590484	89590484	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:89590484G>A	uc002fnj.3	+	3	468	c.447G>A	c.(445-447)gcG>gcA	p.A149A	SPG7_uc002fni.3_Silent_p.A149A	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	Homo sapiens spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	149					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		TGGTCATCGCGGTTGTCATGA	0.612000														52			17		0	0	0.000566183	0	0
EVPL	2125	broad.mit.edu	37	17	74006039	74006039	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:74006039C>T	uc010wss.1	-	21	3541	c.3313G>A	c.(3313-3315)Gag>Aag	p.E1105K	EVPL_uc002jqi.2_Missense_Mutation_p.E1083K|EVPL_uc010wst.1_Missense_Mutation_p.E553K	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1083	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGATTCTTCTCCACCTTGACT	0.602000														171			7		0	0	0.00198382	0	0
RAI1	10743	broad.mit.edu	37	17	17701531	17701531	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:17701531C>T	uc002grm.3	+	2	5738	c.5269C>T	c.(5269-5271)Cct>Tct	p.P1757S	RAI1_uc002grn.1_Missense_Mutation_p.P1757S	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	1757						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCCCCCCAGGCCTGACGGCCC	0.701000														7			7		0	0	0.000274275	0	0
SYNE1	23345	broad.mit.edu	37	6	152841605	152841605	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:152841605C>T	uc021zhb.1	-	3	521	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	SYNE1_uc003qot.4_Missense_Mutation_p.E100K|SYNE1_uc003qou.4_Missense_Mutation_p.E100K|SYNE1_uc010kjb.1_Missense_Mutation_p.E100K|SYNE1_uc003qpa.1_Missense_Mutation_p.E100K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	100	Actin-binding.|CH 1.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.E100K(3)|p.L99L(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTCTTCCTTCGAGGAACTTG	0.443000										HNSCC(10;0.0054)				50			25		0	0	0.00106085	0	0
TGM6	343641	broad.mit.edu	37	20	2384303	2384303	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:2384303C>T	uc002wfy.1	+	8	1231	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	TGM6_uc010gal.1_Silent_p.F390F	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	390					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.F390L(2)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ATGGCCCCTTCGTGTTTGCGG	0.617000														52			27		0	0	0.00395357	0	0
DNAH9	1770	broad.mit.edu	37	17	11725779	11725779	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:11725779G>A	uc002gne.3	+	46	8943	c.8875G>A	c.(8875-8877)Gga>Aga	p.G2959R	DNAH9_uc010coo.3_Missense_Mutation_p.G2253R	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2959	AAA 4 (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			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		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)		CTCCCCTGTGGGAAACAAGCT	0.542000														44			26		0	0	0.00106085	0	0
USP32	84669	broad.mit.edu	37	17	58300780	58300780	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:58300780G>A	uc002iyo.1	-	13	1886	c.1600C>T	c.(1600-1602)Cca>Tca	p.P534S	USP32_uc002iyn.1_Missense_Mutation_p.P204S	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	534	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ACCTTTACTGGTTCTTGAGTT	0.343000														64			28		0	0	0.00127121	0	0
KLK12	43849	broad.mit.edu	37	19	51534143	51534143	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:51534143G>A	uc002pvh.1	-	4	609	c.492C>T	c.(490-492)ctC>ctT	p.L164L	KLK11_uc002pvb.2_5'Flank|KLK11_uc002pvf.1_5'Flank|KLK12_uc002pvg.1_Silent_p.L164L|KLK12_uc010ycp.1_Non-coding_Transcript|KLK12_uc010ycq.1_Silent_p.L54L|KLK12_uc010ycr.1_Silent_p.L54L|KLK12_uc010ycs.1_Missense_Mutation_p.L78F|KLK12_uc002pvi.1_Silent_p.L164L|KLK12_uc002pvj.1_Missense_Mutation_p.L78F	NM_019598	NP_062544	Q9UKR0	KLK12_HUMAN	Homo sapiens kallikrein-related peptidase 12 (KLK12), transcript variant 1, mRNA.	164	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		AGACGATGGAGAGGTTGAGGC	0.612000														104			22		0	0	0.000878237	0	0
ABRA	137735	broad.mit.edu	37	8	107782250	107782250	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:107782250G>A	uc003ymm.4	-	0	223	c.169C>T	c.(169-171)Cag>Tag	p.Q57*		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	Homo sapiens actin-binding Rho activating protein (ABRA), mRNA.	57					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GGTGAGTCCTGGGTCCCTCCC	0.617000														64			21		0	0	0.00395357	0	0
LGALS4	3960	broad.mit.edu	37	19	39294190	39294190	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:39294190G>A	uc002ojg.3	-	7	755	c.541_splice	c.e7-1	p.T181_splice	LGALS4_uc010xuj.2_3'UTR	NM_006149	NP_006140	P56470	LEG4_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 4 (LGALS4), mRNA.	181					cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TCCTTCCATGGTCTGTGAAGT	0.522000														45			16		0	0	0.00074312	0	0
TRA@	6955	broad.mit.edu	37	14	22111199	22111199	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:22111199G>A	uc001wbk.3	+	0	91	c.58G>A	c.(58-60)Gga>Aga	p.G20R						Homo sapiens mRNA for T cell receptor alpha variable 1, partial cds, clone: SEB 114.																		GCAGATGTGGGGAGTTTTCCT	0.463000			T	"""ATL,OLIG2, MYC, TCL1A, TCL6, MTCP1, TCL6"""	T-ALL									34			7		0	0	0.000274275	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84900627	84900627	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:84900627C>T	uc010voh.1	+	6	1061	c.834C>T	c.(832-834)acC>acT	p.T278T	CRISPLD2_uc010vog.1_Intron|CRISPLD2_uc002fim.2_Silent_p.T278T|CRISPLD2_uc002fin.4_Silent_p.T278T	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN	Homo sapiens cysteine-rich secretory protein LCCL domain containing 2 (CRISPLD2), mRNA.	278						extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						CCAAGAAAACCTCTGCGGTCA	0.587000														28			12		0	0	0.000978159	0	0
HGF	3082	broad.mit.edu	37	7	81334775	81334775	+	Silent	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:81334775T>C	uc003uhl.3	-	16	2106	c.1941A>G	c.(1939-1941)cgA>cgG	p.R647R	HGF_uc003uhm.3_Silent_p.R642R	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	647	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TCACCTTCCCTCGATGATGCT	0.403000														11			9		0	0	0.000274275	0	0
HTR1E	3354	broad.mit.edu	37	6	87725313	87725313	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:87725313C>T	uc003pli.3	+	1	964	c.261C>T	c.(259-261)cgC>cgT	p.R87R	HTR1E_uc021zcg.1_Silent_p.R87R	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	87					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.R87H(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TCATGGATCGCTGGAAGCTTG	0.567000														55			59		0	0	0.00361006	0	0
SEMA4C	54910	broad.mit.edu	37	2	97526999	97526999	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:97526999G>A	uc002sxg.4	-	12	2256	c.2025C>T	c.(2023-2025)gcC>gcT	p.A675A	SEMA4C_uc002sxf.4_Silent_p.A122A|SEMA4C_uc002sxe.3_Silent_p.A163A|SEMA4C_uc002sxh.4_Silent_p.A622A	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA.	622					muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GGTAGGCCCCGGCATGGCGGG	0.697000														12			15		0	0	0.00121646	0	0
CSMD2	114784	broad.mit.edu	37	1	33999476	33999476	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:33999476T>A	uc001bxm.1	-	62	10088	c.9911A>T	c.(9910-9912)aAa>aTa	p.K3304I	CSMD2_uc001bxn.1_Missense_Mutation_p.K3160I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3160						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGGTAGCCTTTTTGACAACG	0.572000														43			19		0	0	0.00121646	0	0
DBX1	120237	broad.mit.edu	37	11	20178180	20178180	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:20178180G>A	uc021qez.1	-	3	729	c.726C>T	c.(724-726)tcC>tcT	p.S242S	DBX1_uc021qey.1_Intron	NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN	Homo sapiens developing brain homeobox 1 (DBX1), mRNA.	223					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GGGCTCCGGGGGACGCACGGG	0.627000														36			34		0	0	0.00128727	0	0
BDKRB1	623	broad.mit.edu	37	14	96731048	96731048	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:96731048G>A	uc021sbj.1	+	0	1029	c.1029G>A	c.(1027-1029)agG>agA	p.R343R	BDKRB1_uc001yfh.3_Silent_p.R343R	NM_000710	NP_000701	P46663	BKRB1_HUMAN	Homo sapiens bradykinin receptor B1 (BDKRB1), mRNA.	343					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		CATCCCATAGGAAAGAAATCT	0.383000														102			80		0	0	0.00361006	0	0
PKD1L1	168507	broad.mit.edu	37	7	47874589	47874589	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:47874589C>T	uc003tny.2	-	38	6137	c.6103G>A	c.(6103-6105)Gga>Aga	p.G2035R		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2035					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GTCTGTGCTCCTCCTCTAAGT	0.542000														74			29		0	0	0.00327116	0	0
USP29	57663	broad.mit.edu	37	19	57641808	57641808	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:57641808G>A	uc002qny.3	+	3	2121	c.1765G>A	c.(1765-1767)Gat>Aat	p.D589N	USP29_uc021vci.1_Missense_Mutation_p.D589N	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	589					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGAATCCAGTGATTCCCTGGT	0.483000														41			27		0	0	0.000720815	0	0
GLYATL1	92292	broad.mit.edu	37	11	58722282	58722282	+	Missense_Mutation	SNP	C	T	T	rs151204927		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:58722282C>T	uc001nnh.2	+	4	369	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C	GLYATL1_uc001nnf.3_Missense_Mutation_p.R76C|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Missense_Mutation_p.R76C|GLYATL1_uc001nnj.2_Missense_Mutation_p.R76C	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	76						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	AAACGTATATCGTATGTTCTC	0.383000														37			9		0	0	0.000442599	0	0
PATL1	219988	broad.mit.edu	37	11	59423511	59423511	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:59423511G>A	uc001noe.4	-	6	874	c.731C>T	c.(730-732)tCc>tTc	p.S244F	PATL1_uc009yms.1_Intron|PATL1_uc010rkw.2_Intron	NM_152716	NP_689929	Q86TB9	PATL1_HUMAN	Homo sapiens protein associated with topoisomerase II homolog 1 (yeast) (PATL1), mRNA.	244	Pro-rich.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	RNA binding|protein binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						ACCCAGGAGGGAAGAGTTCTA	0.428000														2			5		0	0	0.00116845	0	0
ZNF585B	92285	broad.mit.edu	37	19	37676240	37676240	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:37676240C>T	uc002ofq.3	-	4	2451	c.2199G>A	c.(2197-2199)ttG>ttA	p.L733L	ZNF585B_uc002ofr.1_Silent_p.L547L	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	733					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GATGTTTATTCAAATTGGACC	0.458000														66			48		0	0	0.00361006	0	0
C20orf94	128710	broad.mit.edu	37	20	10603430	10603430	+	Silent	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:10603430T>C	uc010zre.2	+	7	810	c.630T>C	c.(628-630)gcT>gcC	p.A210A		NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN	Homo sapiens chromosome 20 open reading frame 94 (C20orf94), mRNA.	210							protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	14						ATGGTCAGGCTTCCTCCAGTC	0.498000														41			25		0	0	0.00106085	0	0
WDR62	284403	broad.mit.edu	37	19	36557283	36557283	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:36557283C>T	uc002odd.2	+	4	606	c.515C>T	c.(514-516)tCc>tTc	p.S172F	WDR62_uc002odc.2_Missense_Mutation_p.S172F|WDR62_uc002odb.2_Missense_Mutation_p.S172F	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	172					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CACATCGTGTCCATGGGCTAC	0.562000														14			5		0	0	0.000602214	0	0
ADAM28	10863	broad.mit.edu	37	8	24193127	24193127	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:24193127G>A	uc003xdy.3	+	13	1623	c.1540G>A	c.(1540-1542)Gag>Aag	p.E514K	ADAM28_uc003xdx.3_Missense_Mutation_p.E514K|ADAM28_uc011kzz.2_Missense_Mutation_p.E281K|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.E201K	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	514	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CACACTGCAGGAGCAGTGCAC	0.502000														6			3		0	0	6.4e-05	0	0
ATMIN	23300	broad.mit.edu	37	16	81077961	81077961	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:81077961C>T	uc002ffz.1	+	3	1876	c.1858C>T	c.(1858-1860)Cct>Tct	p.P620S	ATMIN_uc002fga.2_Missense_Mutation_p.P462S|ATMIN_uc010vnn.1_Missense_Mutation_p.P391S|ATMIN_uc002fgb.1_Missense_Mutation_p.P462S	NM_015251	NP_056066	O43313	ATMIN_HUMAN	Homo sapiens ATM interactor (ATMIN), mRNA.	620					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AAATCCTGGACCTGACACCCA	0.438000														26			15		0	0	0.00400662	0	0
LRP1	4035	broad.mit.edu	37	12	57569831	57569831	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:57569831C>T	uc001snd.3	+	23	4399	c.3933C>T	c.(3931-3933)ctC>ctT	p.L1311L		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1311					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGAGCGCCCTCTACTGGACCG	0.622000											OREG0021937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		61			18		0	0	0.000958276	0	0
MYT1	4661	broad.mit.edu	37	20	62839221	62839221	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:62839221C>T	uc002yii.3	+	6	1036	c.672C>T	c.(670-672)gtC>gtT	p.V224V	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	224	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CCGAGGAGGTCGTCGAAGTCA	0.622000														38			12		0	0	0.000978159	0	0
SCG3	29106	broad.mit.edu	37	15	52005530	52005530	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:52005530G>A	uc002abh.3	+	11	1611	c.1208_splice	c.e11-1	p.G403_splice	SCG3_uc010ufz.2_Splice_Site_p.G171_splice	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	403					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		CCTCTTCCAGGAAAAACAGAA	0.348000														76			32		0	0	0.00111076	0	0
ABCC9	10060	broad.mit.edu	37	12	21971127	21971127	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:21971127G>A	uc001rfh.3	-	29	3748	c.3728C>T	c.(3727-3729)tCg>tTg	p.S1243L	ABCC9_uc001rfi.1_Missense_Mutation_p.S1243L	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1243	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCCAGAATTCGAAGACCCACT	0.408000														99			17		0	0	0.000566183	0	0
ERC2	26059	broad.mit.edu	37	3	56330423	56330423	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:56330423C>T	uc021wzo.1	-	1	838	c.698G>A	c.(697-699)cGa>cAa	p.R233Q	ERC2_uc003dhr.1_Missense_Mutation_p.R233Q	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	233						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCTCTGGGTTCGCAGCTCATC	0.522000														46			25		0	0	0.00278032	0	0
FAIM2	23017	broad.mit.edu	37	12	50264310	50264310	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:50264310G>A	uc001rvj.2	-	11	1113	c.928C>T	c.(928-930)Ctt>Ttt	p.L310F	FAIM2_uc001rvi.2_Missense_Mutation_p.L264F	NM_012306	NP_036438	Q9BWQ8	FAIM2_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule 2 (FAIM2), mRNA.	310					anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						GTGCCAAAAAGCTGCAGGAAG	0.562000														53			43		0	0	0.00361006	0	0
NRSN1	140767	broad.mit.edu	37	6	24146112	24146112	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:24146112G>A	uc010jpq.1	+	3	763	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K		NM_080723	NP_542454	Q8IZ57	NRSN1_HUMAN	Homo sapiens neurensin 1 (NRSN1), mRNA.	176					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						AGGGCCAGGGGAAACAAAGAT	0.473000														46			18		0	0	0.00121646	0	0
KPRP	448834	broad.mit.edu	37	1	152733109	152733109	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:152733109C>T	uc001fal.1	+	1	1103	c.1045C>T	c.(1045-1047)Ccc>Tcc	p.P349S	KPRP_uc021ozf.1_Missense_Mutation_p.P349S	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	349	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGATTCCTCCCATCAGACG	0.647000														28			12		0	0	0.00185496	0	0
TCHH	7062	broad.mit.edu	37	1	152082159	152082159	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:152082159C>T	uc009wne.1	-	2	3806	c.3534G>A	c.(3532-3534)caG>caA	p.Q1178Q	TCHH_uc001ezp.2_Silent_p.Q1178Q	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1178	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			gctcttcctcctgctgcagct	0.602000														21			16		0	0	0.000566183	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955501	18955501	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:18955501G>A	uc001mpg.3	-	0	1049	c.831C>T	c.(829-831)tcC>tcT	p.S277S		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	277					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCTGCCTAAAGGAGCCCACGA	0.507000														12			11		0	0	0.00185496	0	0
BCAT2	587	broad.mit.edu	37	19	49299747	49299747	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:49299747G>A	uc010emh.2	-	9	1134	c.1078C>T	c.(1078-1080)Ccc>Tcc	p.P360S	BCAT2_uc002pkq.4_Missense_Mutation_p.P320S|BCAT2_uc002pks.3_Missense_Mutation_p.P320S|BCAT2_uc002pkr.3_Missense_Mutation_p.P360S|BCAT2_uc002pkt.3_Missense_Mutation_p.P268S|Mir_324_uc021uwz.1_5'Flank|BCAT2_uc010emi.2_Missense_Mutation_p.P268S	NM_001190	NP_001181	O15382	BCAT2_HUMAN	Homo sapiens branched chain amino-acid transaminase 2, mitochondrial (BCAT2), nuclear gene encoding mitochondrial protein, transcript variant a, mRNA.	360						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	TCCATGGTGGGAATGTGGAGG	0.612000														54			31		0	0	0.0024448	0	0
WDR66	144406	broad.mit.edu	37	12	122437759	122437759	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:122437759C>T	uc009zxk.3	+	19	3303	c.3144C>T	c.(3142-3144)atC>atT	p.I1048I		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.	1048							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TGAGTGGCATCCACAAGAGCT	0.448000														37			25		0	0	0.00395357	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349343	103349343	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:103349343G>A	uc022cbz.1	-	0	598	c.598C>T	c.(598-600)Cag>Tag	p.Q200*	SLC25A53_uc004elu.3_Nonsense_Mutation_p.Q200*	NM_001012755	NP_001012773	Q5H9E4	MCAR6_HUMAN	Homo sapiens mitochondrial carrier triple repeat 6 (MCART6), nuclear gene encoding mitochondrial protein, mRNA.	200					transport	integral to membrane|mitochondrial inner membrane											AGGCCATCCTGGATGGGGTCC	0.557000														19			65		0	0	0.00361006	0	0
ICOS	29851	broad.mit.edu	37	2	204820508	204820508	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:204820508G>A	uc002vam.3	+	1	275	c.208G>A	c.(208-210)Gga>Aga	p.G70R	ICOS_uc010zip.1_Missense_Mutation_p.G70R|ICOS_uc010fua.3_Missense_Mutation_p.G70R	NM_012092	NP_036224	Q9Y6W8	ICOS_HUMAN	Homo sapiens inducible T-cell co-stimulator (ICOS), mRNA.	70	Ig-like V-type.				T cell costimulation|immune response	extracellular region				breast(1)|large_intestine(1)|lung(4)	6						TAAGACAAAAGGAAGTGGAAA	0.383000														27			15		0	0	0.000566183	0	0
SEL1L3	23231	broad.mit.edu	37	4	25777909	25777909	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:25777909C>T	uc003gru.4	-	16	2811	c.2659G>A	c.(2659-2661)Gaa>Aaa	p.E887K	SEL1L3_uc003grv.3_Missense_Mutation_p.E294K	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	887						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CATGAACCTTCCAGGTAGGCA	0.413000														67			18		0	0	0.00121646	0	0
CRYZL1	9946	broad.mit.edu	37	21	34994338	34994338	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:34994338G>A	uc021wio.1	-	3	361	c.181C>T	c.(181-183)Cct>Tct	p.P61S	DONSON_uc002ysn.1_Intron|CRYZL1_uc002ysr.1_Missense_Mutation_p.P85S|CRYZL1_uc002yss.1_Non-coding_Transcript|CRYZL1_uc002yst.1_Non-coding_Transcript|CRYZL1_uc002ysu.3_Missense_Mutation_p.P61S	NM_145858	NP_665857	O95825	QORL1_HUMAN	Homo sapiens crystallin, zeta (quinone reductase)-like 1 (CRYZL1), mRNA.	61					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						CTCCCAACAGGAAATAAATCC	0.313000														104			32		0	0	0.00170553	0	0
MICAL2	9645	broad.mit.edu	37	11	12278353	12278353	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:12278353C>T	uc001mjz.3	+	23	3265	c.2977C>T	c.(2977-2979)Ccc>Tcc	p.P993S	MICAL2_uc010rch.1_Missense_Mutation_p.P803S|MICAL2_uc001mka.3_Missense_Mutation_p.P993S|MICAL2_uc010rci.2_Missense_Mutation_p.P972S|MICAL2_uc001mkb.3_Missense_Mutation_p.P767S|MICAL2_uc001mkc.3_Missense_Mutation_p.P746S|MICAL2_uc001mkd.3_Missense_Mutation_p.P575S|MICAL2_uc010rcj.2_Missense_Mutation_p.P205S|MICAL2_uc001mkf.3_Non-coding_Transcript	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	993						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.P993P(1)|p.P993H(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AAAGTCATTTCCCCTTAACCT	0.522000														33			9		0	0	0.000442599	0	0
ZNF354B	117608	broad.mit.edu	37	5	178309907	178309907	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:178309907C>T	uc003mjl.3	+	4	680	c.454C>T	c.(454-456)Ctt>Ttt	p.L152F	ZNF354B_uc003mjm.3_Missense_Mutation_p.L152F	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	Homo sapiens zinc finger protein 354B (ZNF354B), mRNA.	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TACAAAAATCCTTACTGTAGA	0.313000														31			17		0	0	0.000566183	0	0
TACC2	10579	broad.mit.edu	37	10	123842291	123842291	+	Silent	SNP	T	C	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:123842291T>C	uc001lfv.3	+	3	636	c.276T>C	c.(274-276)ggT>ggC	p.G92G	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Silent_p.G92G|TACC2_uc010qtv.2_Silent_p.G92G	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	92						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGCCAGAAGGTTCTTTGCTGC	0.637000														22			18		0	0	0.00188189	0	0
DGAT2	84649	broad.mit.edu	37	11	75508276	75508276	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:75508276C>T	uc001oxa.3	+	5	967	c.708C>T	c.(706-708)atC>atT	p.I236I	DGAT2_uc001oxb.3_Silent_p.I193I	NM_032564	NP_115953	Q96PD7	DGAT2_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2 (DGAT2), transcript variant 1, mRNA.	236					glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					CTATCATCATCGTGGTCGGGG	0.567000														47			37		0	0	0.000953801	0	0
COL12A1	1303	broad.mit.edu	37	6	75797404	75797404	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:75797404C>T	uc021zbv.1	-	63	9105	c.9070G>A	c.(9070-9072)Ggc>Agc	p.G3024S	COL12A1_uc021zbw.1_Missense_Mutation_p.G1860S|COL12A1_uc003phs.3_Missense_Mutation_p.G3024S|COL12A1_uc003pht.3_Missense_Mutation_p.G1860S	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	3024	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.P3023L(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCAGGGGGGCCAGGGGGACCT	0.542000														70			44		0	0	0.00361006	0	0
RGS16	6004	broad.mit.edu	37	1	182571242	182571242	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:182571242G>A	uc001gpl.4	-	3	400	c.246C>T	c.(244-246)ttC>ttT	p.F82F	RGS16_uc010pnv.1_Silent_p.F82F	NM_002928	NP_002919	O15492	RGS16_HUMAN	Homo sapiens regulator of G-protein signaling 16 (RGS16), mRNA.	82	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	GTPase activator activity|calmodulin binding|signal transducer activity	p.A81T(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						CTGTCTTCAGGAAAGCGTGGA	0.537000											OREG0014036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		68			96		0	0	0.00361006	0	0
APOB	338	broad.mit.edu	37	2	21225679	21225679	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:21225679C>T	uc002red.3	-	28	12743	c.12615G>A	c.(12613-12615)ccG>ccA	p.P4205P		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4205					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CAGGTTTCCCCGGAAACTGGA	0.433000														77			82		0	0	0.00361006	0	0
NCCRP1	342897	broad.mit.edu	37	19	39691002	39691002	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:39691002C>T	uc002okq.1	+	4	584	c.565C>T	c.(565-567)Ctg>Ttg	p.L189L		NM_001001414	NP_001001414	Q6ZVX7	NCRP1_HUMAN	Homo sapiens non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) (NCCRP1), mRNA.	189	FBA.				protein catabolic process			p.L189L(1)		kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						GGACAGCCGGCTGGATGCGTG	0.652000														108			25		0	0	0.0024448	0	0
TTN	7273	broad.mit.edu	37	2	179397187	179397187	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:179397187C>T	uc021vsy.1	-	306	96676	c.96451G>A	c.(96451-96453)Gtg>Atg	p.V32151M	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V25846M|TTN_uc021vta.1_Missense_Mutation_p.V25779M|TTN_uc021vtb.1_Missense_Mutation_p.V25654M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33078							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTCCTCCACCTTGACATGA	0.473000														61			11		0	0	0.000978159	0	0
CYP2C9	1559	broad.mit.edu	37	10	96741065	96741065	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:96741065C>T	uc001kka.4	+	6	1112	c.1087C>T	c.(1087-1089)Ccc>Tcc	p.P363S	CYP2C9_uc009xut.3_Missense_Mutation_p.P361S	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	363					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TGACCTTCTCCCCACCAGCCT	0.502000														8			3		0	0	6.4e-05	0	0
EIF2B3	8891	broad.mit.edu	37	1	45392316	45392316	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:45392316C>T	uc001cmt.2	-	4	756	c.550G>A	c.(550-552)Gga>Aga	p.G184R	EIF2B3_uc001cmu.2_Missense_Mutation_p.G184R|EIF2B3_uc001cmw.3_Missense_Mutation_p.G184R	NM_020365	NP_065098	Q9NR50	EI2BG_HUMAN	Homo sapiens eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa (EIF2B3), transcript variant 1, mRNA.	184					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGGATGGATCCCTTAATGACC	0.458000														78			45		0	0	0.00285205	0	0
C6orf221	154288	broad.mit.edu	37	6	74072857	74072857	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:74072857C>T	uc003pgt.4	+	1	262	c.209C>T	c.(208-210)tCc>tTc	p.S70F		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA.	70	KH; atypical.									NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1)	19						CAGGGTATGTCCCAAATCTTG	0.592000														45			47		0	0	0.00361006	0	0
CR2	1380	broad.mit.edu	37	1	207643325	207643325	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:207643325G>A	uc001hfw.3	+	5	1222	c.1103G>A	c.(1102-1104)cGa>cAa	p.R368Q	CR2_uc001hfv.3_Missense_Mutation_p.R368Q|CR2_uc009xch.3_Missense_Mutation_p.R368Q|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	368	Sushi 6.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CAGAAAGATCGATATACCTAT	0.512000														11			13		0	0	0.00316338	0	0
VAT1L	57687	broad.mit.edu	37	16	77918642	77918642	+	Silent	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:77918642G>A	uc002ffg.1	+	6	1117	c.1020G>A	c.(1018-1020)ggG>ggA	p.G340G		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	340							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						AACTCATAGGGCTCTACAACC	0.483000														16			9		0	0	0.000442599	0	0
ALB	213	broad.mit.edu	37	4	74282062	74282062	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:74282062C>T	uc003hgs.4	+	9	1354	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F	ALB_uc011cbe.2_Silent_p.F106F|ALB_uc003hgw.4_Silent_p.F235F|ALB_uc011cbf.2_Silent_p.F317F	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	427	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AGTACAAATTCCAGAATGCGT	0.299000														9			11		0	0	0.00136819	0	0
CFHR1	3078	broad.mit.edu	37	1	196800955	196800955	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:196800955G>A	uc001gtn.3	+	5	933	c.819G>A	c.(817-819)atG>atA	p.M273I	CFH_uc021pgt.1_Intron|CFHR1_uc001gtm.3_Missense_Mutation_p.M177I	NM_002113	NP_002104	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 1 (CFHR1), mRNA.	273	Sushi 5.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GAGAAATTATGGAAAATTATA	0.333000														14			20		0	0	0.00332997	0	0
IGFN1	91156	broad.mit.edu	37	1	201186546	201186546	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:201186546G>A	uc001gwc.3	+	16	9857	c.9727G>A	c.(9727-9729)Ggg>Agg	p.G3243R	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCGTAAGAAGGGGAGCAACAC	0.642000														76			25		0	0	0.00106085	0	0
XIST	7503	broad.mit.edu	37	X	73070206	73070206	+	RNA	SNP	G	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:73070206G>A	uc004ebm.1	-	0		c.2383C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		TAATTAAAGTGAATTCTACAA	0.279000														5			14		0	0	0.00185496	0	0
NOS3	4846	broad.mit.edu	37	7	150698458	150698458	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:150698458C>T	uc003wif.3	+	10	1669	c.1373C>T	c.(1372-1374)cCt>cTt	p.P458L	NOS3_uc011kuy.2_Missense_Mutation_p.P252L|NOS3_uc011kva.2_Missense_Mutation_p.P458L|NOS3_uc011kuz.2_Missense_Mutation_p.P458L|NOS3_uc011kvb.2_Missense_Mutation_p.P458L	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	458	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	AGCCTCACTCCTGTTTTCCAT	0.612000														49			20		0	0	0.00152264	0	0
VSTM4	196740	broad.mit.edu	37	10	50315832	50315832	+	Silent	SNP	C	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:50315832C>T	uc001jhf.2	-	1	293	c.264G>A	c.(262-264)ggG>ggA	p.G88G	VSTM4_uc001jhh.2_Silent_p.G88G	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA.	88	Ig-like.					integral to membrane|plasma membrane		p.G88W(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GGCTGAAATTCCCATAGTACT	0.627000														38			14		0	0	0.00316338	0	0
RPL5	6125	broad.mit.edu	37	1	93301759	93301759	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:93301759delT	uc001doz.3	+	4	415	c.337delT	c.(337-339)tttfs	p.F113fs	FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Intron|RPL5_uc001dpb.3_Frame_Shift_Del_p.F63fs|RPL5_uc001dpd.3_5'Flank|SNORD21_uc001dpe.2_5'Flank|SNORA66_uc021opt.1_5'Flank	NM_000969	NP_000960	P46777	RL5_HUMAN	Homo sapiens ribosomal protein L5 (RPL5), mRNA.	113					endocrine pancreas development|rRNA processing|ribosomal large subunit biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TCTCAATAGGTTTGGCATGGA	0.398													---	158	---	---	80	---					
VCAM1	7412	broad.mit.edu	37	1	101198228	101198228	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:101198228delT	uc001dti.3	+	6	2001	c.1780delT	c.(1780-1782)ttafs	p.L594fs	VCAM1_uc010ouj.2_Frame_Shift_Del_p.L532fs|VCAM1_uc001dtj.3_Frame_Shift_Del_p.L502fs	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	594	Ig-like C2-type 6.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GGAAGTGGAATTAATTATCCA	0.343													---	34	---	---	17	---					
TET3	200424	broad.mit.edu	37	2	74327570	74327570	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:74327570delA	uc002skb.4	+	8	3250	c.3250delA	c.(3250-3252)aagfs	p.K1084fs		NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	1084							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCCTCCCTCAAGGTGGAGCC	0.612													---	4	---	---	2	---					
XIRP2	129446	broad.mit.edu	37	2	168103439	168103440	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:168103439_168103440insT	uc002udx.3	+	8	5626_5627	c.5537_5538insT	c.(5536-5538)aatfs	p.N1846fs	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Frame_Shift_Ins_p.N1671fs|XIRP2_uc010fpq.3_Frame_Shift_Ins_p.N1624fs|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1671					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCAACCCTAAATTCCCTCAGCC	0.381													---	19	---	---	7	---					
PARD3B	117583	broad.mit.edu	37	2	205989120	205989130	+	Frame_Shift_Del	DEL	TAAAAAACATT	-	-			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:205989120_205989130delTAAAAAACATT	uc002var.2	+	8	1442_1452	c.1235_1245delTAAAAAACATT	c.(1234-1245)gtaaaaaacattfs	p.V412fs	PARD3B_uc010fub.2_Frame_Shift_Del_p.V412fs|PARD3B_uc002vao.2_Frame_Shift_Del_p.V412fs|PARD3B_uc002vap.2_Frame_Shift_Del_p.V412fs|PARD3B_uc002vaq.2_Frame_Shift_Del_p.V412fs	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	412	PDZ 2.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CCCATTTTTGTAAAAAACATTTTACCAAAGG	0.393													---	93	---	---	10	---					
RRP9	9136	broad.mit.edu	37	3	51968772	51968772	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:51968772delA	uc003dbw.1	-	11	1094	c.1055delT	c.(1054-1056)ctcfs	p.L352fs		NM_004704	NP_004695	O43818	U3IP2_HUMAN	Homo sapiens ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) (RRP9), mRNA.	352					rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		CTTCTTGGAGAGACCCCACAA	0.592													---	59	---	---	23	---					
DVL3	1857	broad.mit.edu	37	3	183883252	183883252	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:183883252delA	uc003fms.3	+	6	876	c.736delA	c.(736-738)aacfs	p.N246fs	DVL3_uc011bqw.2_Frame_Shift_Del_p.N246fs|DVL3_uc003fmt.3_5'UTR|DVL3_uc003fmu.3_Frame_Shift_Del_p.N78fs	NM_004423	NP_004414	Q92997	DVL3_HUMAN	Homo sapiens dishevelled, dsh homolog 3 (Drosophila) (DVL3), mRNA.	246					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CATGTCACTCAACATCATCAC	0.542													---	38	---	---	18	---					
MSH5	4439	broad.mit.edu	37	6	31708367	31708369	+	In_Frame_Del	DEL	GAG	-	-			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:31708367_31708369delGAG	uc003nwu.2	+	1	252_254	c.124_126delGAG	c.(124-126)gagdel	p.E46del	MSH5_uc003nwx.2_In_Frame_Del_p.E46del|MSH5_uc003nwv.2_In_Frame_Del_p.E46del|MSH5_uc003nww.2_In_Frame_Del_p.E46del	NM_172165	NP_751897	O43196	MSH5_HUMAN	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.	46					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|ovary(2)|skin(2)	5						ggaggaagtcgaggaggaggagg	0.655								Direct reversal of damage;Mismatch excision repair (MMR)					---	4	---	---	2	---					
LMTK2	22853	broad.mit.edu	37	7	97822735	97822736	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:97822735_97822736insT	uc003upd.2	+	10	3251_3252	c.2958_2959insT	c.(2956-2961)cccttcfs	p.P986fs		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	986					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.F987L(1)		NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGTCAGCACCCTTCCCAGCCTC	0.564													---	136	---	---	56	---					
SHB	6461	broad.mit.edu	37	9	38068598	38068599	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:38068598_38068599insT	uc004aax.3	-	0	612_613	c.44_45insA	c.(43-45)aagfs	p.K15fs		NM_003028	NP_003019	Q15464	SHB_HUMAN	Homo sapiens Src homology 2 domain containing adaptor protein B (SHB), mRNA.	15	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		GGCTCTTGGTCTTGCTGTTGCC	0.738													---	17	---	---	8	---					
C16orf88	400506	broad.mit.edu	37	16	19725706	19725706	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:19725706delT	uc002dgq.3	-	1	667	c.652delA	c.(652-654)atcfs	p.I218fs	IQCK_uc002dgr.3_5'Flank|IQCK_uc002dgs.3_5'Flank	NM_001012991	NP_001013009	Q1ED39	CP088_HUMAN	Homo sapiens chromosome 16 open reading frame 88 (C16orf88), mRNA.	218	Lys-rich.					nucleolus		p.I218fs*41(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	13						TCCTGGTGGATTTTTTTTTTC	0.532													---	111	---	---	10	---					
MYO19	80179	broad.mit.edu	37	17	34864909	34864909	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:34864909delG	uc010wcy.2	-	14	2215	c.1223delC	c.(1222-1224)actfs	p.T408fs	MYO19_uc010cuu.3_Non-coding_Transcript|MYO19_uc002hmw.3_Frame_Shift_Del_p.T408fs|MYO19_uc010wcz.1_Non-coding_Transcript	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Homo sapiens myosin XIX (MYO19), transcript variant 2, mRNA.	408	Myosin head-like.					mitochondrial outer membrane|myosin complex	ATP binding|actin binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ACCTATGAAAGTGGTCCACGA	0.542													---	18	---	---	8	---					
ABCA6	23460	broad.mit.edu	37	17	67092380	67092381	+	Splice_Site	INS	-	A	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:67092380_67092381insA	uc002jhw.1	-	25	3583	c.3408_splice	c.e25+1	p.F1136_splice		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	1136					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TATATACTTACAAAAAAGAAGT	0.282													---	31	---	---	17	---