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
MAGI1	9223	broad.mit.edu	37	3	65425655	65425655	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr3:65425655G>T	uc003dmn.3	-	8	1695	c.1169C>A	c.(1168-1170)cCg>cAg	p.P390Q	MAGI1_uc003dmm.3_Missense_Mutation_p.P390Q|MAGI1_uc003dmo.3_Missense_Mutation_p.P390Q|MAGI1_uc003dmp.3_Missense_Mutation_p.P390Q|MAGI1_uc010hny.2_Missense_Mutation_p.P275Q|MAGI1_uc021xac.1_Missense_Mutation_p.P391Q	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	390	WW 2.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TTCTAGAACCGGGTTCTCATA	0.507000											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		69			32		4.34311e-12	5.13276e-12	1	1	0
NUP62CL	54830	broad.mit.edu	37	X	106397398	106397398	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chrX:106397398T>A	uc004ena.3	-	4	532	c.273A>T	c.(271-273)caA>caT	p.Q91H	NUP62CL_uc004enb.3_Intron	NM_017681	NP_060151	Q9H1M0	N62CL_HUMAN	Homo sapiens nucleoporin 62kDa C-terminal like (NUP62CL), transcript variant 1, mRNA.	91					protein transport	nuclear pore	structural constituent of nuclear pore			lung(4)	4						AGTACTTCTCTTGATCTTCCA	0.398000														45			15		0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22390767	22390767	+	Silent	SNP	G	A	A	rs138178541	byFrequency	TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr4:22390767G>A	uc003gqm.1	-	17	2932	c.2667C>T	c.(2665-2667)tgC>tgT	p.C889C	GPR125_uc010ieo.1_Silent_p.C745C|GPR125_uc003gql.1_Silent_p.C16C	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	889					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	p.C889C(2)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CAGTTATGCCGCAAACAATGA	0.423000														291			5		0	0	1	0	0
FBXO2	26232	broad.mit.edu	37	1	11708839	11708839	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr1:11708839C>G	uc009vna.3	-	5	1303	c.812G>C	c.(811-813)cGc>cCc	p.R271P	FBXO2_uc001asj.3_Missense_Mutation_p.R268P	NM_012168	NP_036300	Q9UK22	FBX2_HUMAN	Homo sapiens F-box protein 2 (FBXO2), mRNA.	268	FBA.				SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|glycoprotein catabolic process	SCF ubiquitin ligase complex|cytosol|endoplasmic reticulum|membrane|microsome	sugar binding|ubiquitin-protein ligase activity			kidney(1)|large_intestine(1)|lung(4)	6	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-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)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		GTGCTCGAAGCGGACGAAGCG	0.667000														81			21		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447369	226447369	+	Silent	SNP	G	C	C			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr2:226447369G>C	uc002voe.2	+	3	1411	c.1236G>C	c.(1234-1236)tcG>tcC	p.S412S	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Silent_p.S182S	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	412	Pro-rich.																CGCTCTCCTCGTCGCCCCCAC	0.687000														14			3		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38593010	38593010	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr3:38593010G>A	uc021wvo.1	-	26	4905	c.4853C>T	c.(4852-4854)tCc>tTc	p.S1618F	SCN5A_uc021wvk.1_Missense_Mutation_p.S1585F|SCN5A_uc021wvl.1_Missense_Mutation_p.S1564F|SCN5A_uc021wvm.1_Missense_Mutation_p.S1600F|SCN5A_uc021wvn.1_Missense_Mutation_p.S1617F|SCN5A_uc021wvp.1_Missense_Mutation_p.S1618F|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.S1430F|SCN5A_uc021wvi.1_Missense_Mutation_p.S1484F	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1618					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GAGCGTCGGGGAGAAGAAGTA	0.592000														90			44		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179470323	179470323	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr2:179470323T>C	uc021vsy.1	-	227	46220	c.45995A>G	c.(45994-45996)gAa>gGa	p.E15332G	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E9027G|TTN_uc021vta.1_Missense_Mutation_p.E8960G|TTN_uc021vtb.1_Missense_Mutation_p.E8835G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16259	Ig-like 97.						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)			ACGCCGTTTTTCAATGATATA	0.438000														132			17		0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231109750	231109750	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr2:231109750G>T	uc002vql.3	+	5	734	c.619G>T	c.(619-621)Gga>Tga	p.G207*	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqk.2_Nonsense_Mutation_p.G207*|SP140_uc002vqn.3_Nonsense_Mutation_p.G207*|SP140_uc002vqm.3_Nonsense_Mutation_p.G207*|SP140_uc010fxl.3_Nonsense_Mutation_p.G207*	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	207					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AAAGGCTGGTGGAGGAGATGC	0.458000														54			27		3.1745e-13	3.84706e-13	1	1	0
CAMK4	814	broad.mit.edu	37	5	110730424	110730424	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr5:110730424T>A	uc003kpf.3	+	4	638	c.403T>A	c.(403-405)Tat>Aat	p.Y135N	CAMK4_uc010jbv.3_5'UTR	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	135	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GGAAAAGGGATATTACAGTGA	0.373000														21			12		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88679759	88679759	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr15:88679759C>T	uc002bme.2	-	7	1010	c.704G>A	c.(703-705)gGa>gAa	p.G235E	NTRK3_uc002bmh.2_Missense_Mutation_p.G235E|NTRK3_uc002bmf.2_Missense_Mutation_p.G235E|NTRK3_uc021sua.1_Missense_Mutation_p.G235E|NTRK3_uc010upl.1_Missense_Mutation_p.G137E|NTRK3_uc010bnh.1_Missense_Mutation_p.G235E|NTRK3_uc002bmg.3_Missense_Mutation_p.G235E	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	235	Ig-like C2-type 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAGGGGTGATCCAGAGCCATT	0.567000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				19			4		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70956853	70956853	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr12:70956853C>G	uc001swb.4	-	13	3315	c.3285G>C	c.(3283-3285)gaG>gaC	p.E1095D	PTPRB_uc010sto.2_Missense_Mutation_p.E1005D|PTPRB_uc010stp.2_Missense_Mutation_p.E1005D|PTPRB_uc001swc.4_Missense_Mutation_p.E1313D|PTPRB_uc001swa.4_Missense_Mutation_p.E1225D|PTPRB_uc001swd.4_Missense_Mutation_p.E1312D|PTPRB_uc009zrr.2_Missense_Mutation_p.E1192D	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1095	Fibronectin type-III 13.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGGTGGAGTTCTCTGTGATCC	0.567000														43			18		0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14075930	14075930	+	Silent	SNP	G	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr1:14075930G>A	uc001avi.3	+	5	1315	c.459G>A	c.(457-459)gaG>gaA	p.E153E	PRDM2_uc001avg.3_Silent_p.E153E|PRDM2_uc001avh.3_Silent_p.E153E|PRDM2_uc021ogk.1_5'UTR|PRDM2_uc001avk.3_5'UTR|PRDM2_uc009voe.3_Non-coding_Transcript|PRDM2_uc009vof.3_Non-coding_Transcript	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	153						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CTGCGATTGAGGAAGAGCGAG	0.706000														75			4		0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138678912	138678912	+	Silent	SNP	C	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chrX:138678912C>A	uc011mwn.1	-	21	2514	c.2508G>T	c.(2506-2508)ctG>ctT	p.L836L	MCF2_uc004fav.3_Silent_p.L707L|MCF2_uc004fau.3_Silent_p.L691L|MCF2_uc010nsh.2_Silent_p.L691L|MCF2_uc011mwm.2_Silent_p.L652L|MCF2_uc011mwl.2_Silent_p.L668L|MCF2_uc011mwo.1_Silent_p.L767L|MCF2_uc004faw.2_Silent_p.L751L|Mir_548_uc022cfd.1_5'Flank	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	691					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TCATCTTGCCCAGTTCATTTA	0.408000														57			18		7.45023e-12	8.73264e-12	1	1	0
PLEKHH2	130271	broad.mit.edu	37	2	43926926	43926926	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr2:43926926C>A	uc010yny.2	+	7	912	c.829C>A	c.(829-831)Cag>Aag	p.Q277K	PLEKHH2_uc002rte.3_Missense_Mutation_p.Q277K|PLEKHH2_uc002rtf.3_Missense_Mutation_p.Q276K	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	277						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)				TGGCATCTCCCAGAATTCTGG	0.507000														36			21		3.10358e-05	3.2875e-05	1	1	0
GNPTAB	79158	broad.mit.edu	37	12	102158806	102158806	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr12:102158806G>A	uc001tit.3	-	12	2081	c.1889C>T	c.(1888-1890)aCa>aTa	p.T630I		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits (GNPTAB), mRNA.	630					cell differentiation	Golgi membrane|integral to membrane|nucleus	UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity|metal ion binding|transcription factor binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CACCTCCACTGTTATCTGCAT	0.418000														51			20		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371445	240371445	+	Silent	SNP	C	T	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr1:240371445C>T	uc010pye.2	+	5	3570	c.3345C>T	c.(3343-3345)ccC>ccT	p.P1115P	FMN2_uc010pyd.2_Silent_p.P1111P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1111	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTCCTCCGCCCCCTCTACCCG	0.726000														27			6		0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48267357	48267357	+	Silent	SNP	C	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr11:48267357C>A	uc001ngs.1	+	0	702	c.702C>A	c.(700-702)tcC>tcA	p.S234S		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CCTGTGGGTCCCATTTCGCTG	0.517000														13			10		0.00621372	0.00630185	1	1	0
TRERF1	55809	broad.mit.edu	37	6	42227383	42227383	+	Silent	SNP	G	T	T	rs142184147		TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr6:42227383G>T	uc003ose.2	-	8	2586	c.2023C>A	c.(2023-2025)Cgg>Agg	p.R675R	TRERF1_uc011duq.1_Silent_p.R572R|TRERF1_uc003osb.2_Silent_p.R411R|TRERF1_uc003osc.2_Silent_p.R411R|TRERF1_uc003osd.2_Silent_p.R655R	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	655	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGCCGGTGCCGGAACTTTTTC	0.627000														150			18		5.3912e-06	5.93032e-06	1	1	0
PRB1	5542	broad.mit.edu	37	12	11506602	11506602	+	Silent	SNP	T	C	C			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr12:11506602T>C	uc001qzw.1	-	2	472	c.435A>G	c.(433-435)ggA>ggG	p.G145G	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	145	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGACTTGTCTCCTTGTGGGG	0.607000														733			7		0	0	1	0	0
HSPB7	27129	broad.mit.edu	37	1	16343648	16343648	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr1:16343648G>A	uc001axr.2	-	1	1096	c.533C>T	c.(532-534)gCg>gTg	p.A178V	HSPB7_uc001axo.2_Missense_Mutation_p.A85V|HSPB7_uc001axp.2_Missense_Mutation_p.A173V|HSPB7_uc001axq.2_Missense_Mutation_p.A177V|HSPB7_uc001axs.2_Missense_Mutation_p.A160V|CLCNKA_uc001axt.3_5'Flank	NM_014424	NP_055239	Q9UBY9	HSPB7_HUMAN	Homo sapiens heat shock 27kDa protein family, member 7 (cardiovascular) (HSPB7), mRNA.	85					regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CACGTCCACCGCAAACTCATA	0.607000														320			5		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57731669	57731669	+	Missense_Mutation	SNP	G	A	A	rs147998969		TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr15:57731669G>A	uc010bfw.3	+	2	1665	c.1472G>A	c.(1471-1473)aGt>aAt	p.S491N	CGNL1_uc002aeg.3_Missense_Mutation_p.S491N	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	491	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GGTGCACAGAGTAAAAAGGAG	0.532000														26			16		0	0	1	0	0
INPP5A	3632	broad.mit.edu	37	10	134523902	134523902	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr10:134523902A>G	uc001llp.3	+	7	837	c.589A>G	c.(589-591)Aca>Gca	p.T197A	INPP5A_uc001llo.1_Missense_Mutation_p.T197A|INPP5A_uc001llq.3_Missense_Mutation_p.T149A	NM_005539	NP_005530	Q14642	I5P1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 40kDa (INPP5A), mRNA.	197					cell communication	membrane	PH domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		CGCCTGGGAAACAAGCCCTTC	0.572000														9			10		0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12728642	12728642	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chrX:12728642C>T	uc004cuz.2	+	13	2101	c.1595C>T	c.(1594-1596)gCg>gTg	p.A532V	FRMPD4_uc011mij.2_Missense_Mutation_p.A524V	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	532					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AAAAACACAGCGACCCAGGAA	0.468000														99			27		0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24202490	24202490	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr16:24202490G>A	uc002dmd.3	+	15	1999	c.1802G>A	c.(1801-1803)cGg>cAg	p.R601Q	PRKCB_uc002dme.3_Missense_Mutation_p.R601Q	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	601	AGC-kinase C-terminal.				B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.R601Q(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GCATTTTTCCGGTATATTGAT	0.463000														78			20		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14750188	14750188	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr9:14750188G>A	uc003zlm.3	-	30	6310	c.5494C>T	c.(5494-5496)Cct>Tct	p.P1832S	FREM1_uc010mic.3_Non-coding_Transcript|FREM1_uc003zlk.3_Intron|FREM1_uc003zll.3_Missense_Mutation_p.P368S	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1832					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.N1831K(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)		GCATTCACAGGGGAGTTCAGA	0.388000														100			19		0	0	1	0	0
MCHR1	2847	broad.mit.edu	37	22	41075545	41075545	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr22:41075545C>G	uc003ayz.3	+	0	364	c.96C>G	c.(94-96)aaC>aaG	p.N32K	MCHR1_uc003aza.3_Intron	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	Homo sapiens melanin-concentrating hormone receptor 1 (MCHR1), mRNA.	32			N -> D (no significant functional differences; dbSNP:rs133072).		elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CCCTTCCCAACTGCGGGGCTT	0.687000														52			13		0	0	1	0	0
CSAD	51380	broad.mit.edu	37	12	53553931	53553931	+	Missense_Mutation	SNP	C	T	T	rs34792176		TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr12:53553931C>T	uc001sby.3	-	12	1265	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	CSAD_uc021qyc.1_Missense_Mutation_p.R147H|CSAD_uc001sbw.3_Missense_Mutation_p.R233H|CSAD_uc009zmt.3_Missense_Mutation_p.R162H|CSAD_uc010snx.2_Missense_Mutation_p.R407H|CSAD_uc001sbz.3_Missense_Mutation_p.R380H|CSAD_uc009zmu.3_Missense_Mutation_p.R233H|CSAD_uc021qyd.1_Non-coding_Transcript	NM_001244705	NP_001231634	Q9Y600	CSAD_HUMAN	Homo sapiens cysteine sulfinic acid decarboxylase (CSAD), transcript variant 2, mRNA.	380					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity	p.R379W(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CTGGTCGATGCGCCGCTCCAG	0.657000											OREG0021859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		25			11		0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68703893	68703893	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr11:68703893G>T	uc001ook.1	+	12	2047	c.1945G>T	c.(1945-1947)Gaa>Taa	p.E649*	IGHMBP2_uc001ool.1_Nonsense_Mutation_p.E273*|IGHMBP2_uc001oom.1_Nonsense_Mutation_p.E227*	NM_002180	NP_002171	P38935	SMBP2_HUMAN	Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.	649					DNA recombination|DNA repair|DNA replication|cell death|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|tRNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TATTGTCCCAGAAAACTATTC	0.547000														513			54		9.57592e-29	1.25629e-28	1	1	0
TMPRSS13	84000	broad.mit.edu	37	11	117789462	117789462	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr11:117789462T>C	uc001prs.2	-	1	259	c.113A>G	c.(112-114)cAg>cGg	p.Q38R	TMPRSS13_uc009yzr.2_Missense_Mutation_p.Q38R|TMPRSS13_uc021qrc.1_Missense_Mutation_p.Q38R|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.2_Missense_Mutation_p.Q38R	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN	Homo sapiens transmembrane protease, serine 13 (TMPRSS13), transcript variant 1, mRNA.	38	12 X 5 AA repeats of A-S-P-A-[GLQR].|4 X 5 AA repeats of T-P-P-G-R.|Ala-rich.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		TGGAGATGCCTGGGCTGGAGA	0.637000														50			4		0	0	1	0	0
MATN3	4148	broad.mit.edu	37	2	20205600	20205600	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr2:20205600A>G	uc002rdl.3	-	1	758	c.695T>C	c.(694-696)aTg>aCg	p.M232T	MATN3_uc010exu.1_Missense_Mutation_p.M232T	NM_002381	NP_002372	O15232	MATN3_HUMAN	Homo sapiens matrilin 3 (MATN3), mRNA.	232	VWFA.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGGCCATCATCTTGAGGGA	0.557000														12			4		0	0	1	0	0
DONSON	29980	broad.mit.edu	37	21	34955849	34955849	+	Silent	SNP	G	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr21:34955849G>A	uc002ysk.3	-	4	1229	c.909C>T	c.(907-909)atC>atT	p.I303I	DONSON_uc002ysi.1_Silent_p.I63I|DONSON_uc002ysj.3_Intron|DONSON_uc002ysm.3_Silent_p.I303I	NM_017613	NP_060083	Q9NYP3	DONS_HUMAN	Homo sapiens downstream neighbor of SON (DONSON), mRNA.	303					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						TGAGAGCTGTGATTAAGTCAC	0.363000														33			9		0	0	1	0	0
MARK3	4140	broad.mit.edu	37	14	103941514	103941514	+	Silent	SNP	T	C	C			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr14:103941514T>C	uc001ymz.4	+	12	2115	c.1449T>C	c.(1447-1449)atT>atC	p.I483I	MARK3_uc001ymx.4_Silent_p.I483I|MARK3_uc001ymw.4_Silent_p.I483I|MARK3_uc001yna.4_Silent_p.I467I|MARK3_uc001ymy.4_Silent_p.I404I|MARK3_uc010awp.3_Silent_p.I506I|MARK3_uc010tyb.2_Silent_p.I278I|MARK3_uc010awq.3_Silent_p.I13I	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 3 (MARK3), transcript variant 1, mRNA.	483							ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			AGGCGGATATTCCTGAACGCA	0.488000														39			7		0	0	1	0	0
KIAA0664	23277	broad.mit.edu	37	17	2595709	2595709	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr17:2595709G>A	uc002fuy.1	-	21	3475	c.3389C>T	c.(3388-3390)gCg>gTg	p.A1130V	KIAA0664_uc002fux.1_Missense_Mutation_p.A1063V|KIAA0664_uc010ckc.1_Missense_Mutation_p.A116V	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	1130							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						GACGGCCAGCGCGTTCTCCAG	0.701000														14			7		0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72936747	72936747	+	Silent	SNP	G	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr14:72936747G>A	uc001xna.4	+	7	1015	c.492G>A	c.(490-492)gcG>gcA	p.A164A	RGS6_uc021rvv.1_Silent_p.A129A|RGS6_uc010ttn.2_Silent_p.A164A|RGS6_uc021rvw.1_Silent_p.A164A|RGS6_uc021rvx.1_Silent_p.A164A|RGS6_uc021rvy.1_Silent_p.A164A|RGS6_uc021rvz.1_Silent_p.A164A|RGS6_uc001xmy.4_Silent_p.A164A|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Silent_p.A164A|RGS6_uc021rwa.1_Silent_p.A164A|RGS6_uc021rwb.1_Silent_p.A164A|RGS6_uc010ttp.1_Silent_p.A95A|RGS6_uc021rwc.1_Silent_p.A25A|RGS6_uc010arg.3_Non-coding_Transcript	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	164					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		GGGCCTTTGCGAGGAAGTGGG	0.403000														65			15		0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173150852	173150852	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr4:173150852G>A	uc003isv.3	+	2	920	c.184G>A	c.(184-186)Gat>Aat	p.D62N		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	62						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TTCATGGACAGATGGTTTGAG	0.433000														53			7		0	0	1	0	0
TRAPPC6B	122553	broad.mit.edu	37	14	39627505	39627505	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr14:39627505A>C	uc001wut.1	-	2	586	c.251T>G	c.(250-252)cTa>cGa	p.L84R	TRAPPC6B_uc001wuu.1_Missense_Mutation_p.L84R|TRAPPC6B_uc001wuv.1_Non-coding_Transcript|TRAPPC6B_uc010tqd.1_Intron	NM_001079537	NP_001073005	Q86SZ2	TPC6B_HUMAN	Homo sapiens trafficking protein particle complex 6B (TRAPPC6B), transcript variant 1, mRNA.	84					vesicle-mediated transport	Golgi apparatus|endoplasmic reticulum	guanylate cyclase activity|heme binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)		ATTTGTCCTTAGATTGTCGAT	0.274000														17			5		0	0	1	0	0
PCP4	5121	broad.mit.edu	37	21	41300918	41300918	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr21:41300918A>G	uc002yyp.3	+	2	152	c.71A>G	c.(70-72)aAg>aGg	p.K24R		NM_006198	NP_006189	P48539	PCP4_HUMAN	Homo sapiens Purkinje cell protein 4 (PCP4), mRNA.	24					central nervous system development	cytosol|nucleus				large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				GATGGACAGAAGAAAGTTCAA	0.448000														49			22		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240256802	240256802	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr1:240256802C>A	uc010pye.2	+	0	1618	c.1393C>A	c.(1393-1395)Ccg>Acg	p.P465T	FMN2_uc010pyd.2_Missense_Mutation_p.P465T	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	465					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGTAGCCGCCCCGGCCAAGAA	0.731000														44			5		0.00116845	0.00121078	1	1	0
PTPN22	26191	broad.mit.edu	37	1	114397667	114397667	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr1:114397667G>T	uc001eds.3	-	7	675	c.545C>A	c.(544-546)aCt>aAt	p.T182N	LOC100287722_uc001edv.1_5'Flank|PTPN22_uc021orx.1_Missense_Mutation_p.T182N|PTPN22_uc009wgq.3_Missense_Mutation_p.T182N|PTPN22_uc021ory.1_Missense_Mutation_p.T158N|PTPN22_uc010owo.2_Intron|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.T182N|PTPN22_uc009wgs.2_Intron|PTPN22_uc001edu.2_Missense_Mutation_p.T182N	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	182	Tyrosine-protein phosphatase.				T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATAGTTCGAGTTTCCTATAA	0.438000														18			14		2.31682e-05	2.47243e-05	1	1	0
NID2	22795	broad.mit.edu	37	14	52477677	52477677	+	Silent	SNP	G	T	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr14:52477677G>T	uc001wzo.3	-	17	3873	c.3639C>A	c.(3637-3639)gcC>gcA	p.A1213A	NID2_uc010tqs.2_Silent_p.A1165A|NID2_uc010tqt.1_Silent_p.A1213A	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	1213						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CATCCAGCAGGGCGCTCTCTA	0.542000														66			8		1.33987e-11	1.55774e-11	1	1	0
ADAM21	8747	broad.mit.edu	37	14	70924319	70924319	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr14:70924319C>A	uc021rvq.1	+	0	103	c.103C>A	c.(103-105)Cag>Aag	p.Q35K	ADAM21_uc001xmd.3_Missense_Mutation_p.Q35K	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	35					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)		TGGGCCCTCCCAGCATTTCAC	0.557000														148			21		5.35356e-11	6.17386e-11	1	1	0
MAD1L1	8379	broad.mit.edu	37	7	2108849	2108849	+	Missense_Mutation	SNP	G	A	A	rs77541266	by1000genomes	TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr7:2108849G>A	uc003slh.1	-	11	1464	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W	MAD1L1_uc003sle.1_Missense_Mutation_p.R129W|MAD1L1_uc003slf.1_Missense_Mutation_p.R400W|MAD1L1_uc003slg.1_Missense_Mutation_p.R400W|MAD1L1_uc010ksh.1_Missense_Mutation_p.R400W|MAD1L1_uc003sli.1_Missense_Mutation_p.R308W|MAD1L1_uc010ksi.1_Missense_Mutation_p.R353W|MAD1L1_uc010ksj.3_Missense_Mutation_p.R400W	NM_001013836	NP_003541	Q9Y6D9	MD1L1_HUMAN	Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA.	400	Necessary for interaction with NEK2.				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		AGCAGGACCCGTTTCTGGAGC	0.622000														81			27		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70954675	70954675	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr12:70954675T>G	uc001swb.4	-	14	3584	c.3554A>C	c.(3553-3555)aAc>aCc	p.N1185T	PTPRB_uc010sto.2_Missense_Mutation_p.N1095T|PTPRB_uc010stp.2_Missense_Mutation_p.N1095T|PTPRB_uc001swc.4_Missense_Mutation_p.N1403T|PTPRB_uc001swa.4_Missense_Mutation_p.N1315T|PTPRB_uc001swd.4_Missense_Mutation_p.N1402T|PTPRB_uc009zrr.2_Missense_Mutation_p.N1282T	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1185	Fibronectin type-III 14.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTCTGTCGTGTTCCGATTGGA	0.453000														195			80		0	0	1	0	0
CMPK2	129607	broad.mit.edu	37	2	6990085	6990085	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr2:6990085G>A	uc002qyo.3	-	4	1355	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W	CMPK2_uc002qyn.1_Non-coding_Transcript|CMPK2_uc010yis.1_Intron	NM_207315	NP_997198	Q5EBM0	CMPK2_HUMAN	Homo sapiens cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial (CMPK2), nuclear gene encoding mitochondrial protein, mRNA.	416					dTDP biosynthetic process	mitochondrion	ATP binding|UMP kinase activity|cytidylate kinase activity|thymidylate kinase activity	p.Q415L(1)		large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTCTCCATCCGCTGGTAGGAC	0.453000														77			11		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28916432	28916432	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr18:28916432T>C	uc002kwp.3	+	8	1333	c.1121T>C	c.(1120-1122)gTg>gCg	p.V374A		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	374	Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GCAATTTCTGTGACTGTGTTA	0.363000														37			10		0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35923164	35923164	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr6:35923164G>A	uc003olm.3	-	16	2108	c.1997C>T	c.(1996-1998)tCg>tTg	p.S666L	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Missense_Mutation_p.S248L|SLC26A8_uc003oll.3_Missense_Mutation_p.S561L|SLC26A8_uc003oln.3_Missense_Mutation_p.S666L	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	666	Interaction with RACGAP1.|STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						AGACACGGACGATACTGTGTA	0.468000														108			22		0	0	1	0	0
RABL5	64792	broad.mit.edu	37	7	100958505	100958505	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr7:100958505C>A	uc003uyl.3	-	4	571	c.468G>T	c.(466-468)gaG>gaT	p.E156D	RABL5_uc011kkk.2_Missense_Mutation_p.E79D|RABL5_uc011kkl.2_Missense_Mutation_p.E79D|RABL5_uc003uym.3_Missense_Mutation_p.E126D|RABL5_uc010lhw.3_Non-coding_Transcript	NM_022777	NP_001124294	Q9H7X7	RABL5_HUMAN	Homo sapiens RAB, member RAS oncogene family-like 5 (RABL5), transcript variant 1, mRNA.	156							GTP binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.215)					CCATCCGGATCTCCTCAGGGT	0.433000											OREG0018221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		26			11		5.50884e-06	6.01346e-06	1	1	0
HIVEP2	3097	broad.mit.edu	37	6	143081031	143081032	+	Nonsense_Mutation	DNP	TA	AG	AG			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr6:143081031_143081032TA>AG	uc003qjd.3	-	8	7136_7137	c.6393_6394TA>CT	c.(6391-6396)cctaga>ccCTga	p.R2132*		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	2132	10 X 4 AA tandem repeats of S-P-[RGMKC]- [RK].|Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		CTCTCTCTTCTAGGAGAGAGGT	0.470000														36			11		0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68703735	68703735	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr11:68703735G>T	uc001ook.1	+	12	1889	c.1787G>T	c.(1786-1788)aGg>aTg	p.R596M	IGHMBP2_uc001ool.1_Missense_Mutation_p.R220M|IGHMBP2_uc001oom.1_Missense_Mutation_p.R174M	NM_002180	NP_002171	P38935	SMBP2_HUMAN	Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.	596					DNA recombination|DNA repair|DNA replication|cell death|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|tRNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GAGGACCGGAGGATCAACGTG	0.537000														603			71		2.73218e-42	3.65142e-42	1	1	0
TDRD5	163589	broad.mit.edu	37	1	179620045	179620045	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr1:179620045G>A	uc010pnp.2	+	11	2362	c.1844G>A	c.(1843-1845)tGc>tAc	p.C615Y	TDRD5_uc021pfm.1_Missense_Mutation_p.C615Y|TDRD5_uc001gnf.2_Missense_Mutation_p.C615Y|TDRD5_uc021pfn.1_Missense_Mutation_p.C615Y|TDRD5_uc001gnh.2_Missense_Mutation_p.C170Y	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	615					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CAGAAGTTGTGCGGTTTGAAG	0.363000														125			26		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57431546	57431546	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr1:57431546T>A	uc001cyp.3	-	0	143	c.76A>T	c.(76-78)Agt>Tgt	p.S26C	C8B_uc010oon.2_5'UTR|C8B_uc010ooo.2_5'UTR	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	26					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						CCAGGCAAACTGAGACAGCCC	0.502000														30			10		0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50140170	50140170	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr20:50140170G>A	uc002xwd.3	-	1	830	c.610C>T	c.(610-612)Cag>Tag	p.Q204*	NFATC2_uc002xwc.3_Nonsense_Mutation_p.Q204*|NFATC2_uc010zyv.2_Intron|NFATC2_uc010zyw.2_Intron|NFATC2_uc002xwe.3_Nonsense_Mutation_p.Q184*|NFATC2_uc010zyx.2_Nonsense_Mutation_p.Q184*|NFATC2_uc010zyy.2_Intron|NFATC2_uc010zyz.2_Intron	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	204	3 X approximate SP repeats.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TTTTGAAACTGCGGACACAGG	0.612000														123			70		0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43529170	43529170	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr19:43529170G>T	uc002ovm.1	-	1	210	c.103C>A	c.(103-105)Caa>Aaa	p.Q35K	PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Intron|PSG11_uc002ovo.1_Intron	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.	35	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				ATCATGACTTGGGCAGTGGTA	0.468000														172			26		2.4375e-19	3.08462e-19	1	1	0
MKI67	4288	broad.mit.edu	37	10	129905305	129905305	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr10:129905305T>C	uc001lke.3	-	12	4994	c.4799A>G	c.(4798-4800)cAc>cGc	p.H1600R	MKI67_uc001lkf.3_Missense_Mutation_p.H1240R|MKI67_uc009yav.1_Missense_Mutation_p.H1175R|MKI67_uc009yaw.1_Missense_Mutation_p.H750R	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1600	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTCCTCAGTGTGACCTCGTGT	0.493000														96			9		0	0	1	0	0
HMGN5	79366	broad.mit.edu	37	X	80375311	80375311	+	Silent	SNP	T	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chrX:80375311T>A	uc004eee.1	-	2	350	c.21A>T	c.(19-21)gcA>gcT	p.A7A		NM_030763	NP_110390	P82970	HMGN5_HUMAN	Homo sapiens high mobility group nucleosome binding domain 5 (HMGN5), mRNA.	7					chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleolus	DNA binding|chromatin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	10						CACCTTGACCTGCAGCCTACA	0.348000														38			11		0	0	1	0	0
RPS10-NUDT3	100529239	broad.mit.edu	37	6	34256606	34256606	+	Nonsense_Mutation	SNP	G	C	C			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr6:34256606G>C	uc003ojl.3	-	4	761	c.443C>G	c.(442-444)tCa>tGa	p.S148*	RPS10-NUDT3_uc021yyt.1_Nonsense_Mutation_p.S267*|DQ591995_uc021yys.1_5'Flank	NM_006703	NP_006694			Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 3 (NUDT3), mRNA.																		ATTGTTGGCTGAGTAGCCTTG	0.468000														101			15		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829394	146829394	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr7:146829394A>G	uc003weu.2	+	7	1657	c.1141A>G	c.(1141-1143)Aca>Gca	p.T381A		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	381					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)			TTTCAACGCTACAAGTTACCT	0.463000										HNSCC(39;0.1)				55			19		0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524121	24524121	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr20:24524121G>T	uc002wtw.1	+	1	1021	c.388G>T	c.(388-390)Gat>Tat	p.D130Y		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	130					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		p.P129L(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CGAGTACCCGGATGGGAAGTT	0.612000														47			61		4.09106e-26	5.31838e-26	1	1	0
DPP6	1804	broad.mit.edu	37	7	154684072	154684072	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr7:154684072C>T	uc003wlk.3	+	25	2609	c.2480C>T	c.(2479-2481)aCc>aTc	p.T827I	DPP6_uc003wli.3_Missense_Mutation_p.T763I|DPP6_uc003wlm.3_Missense_Mutation_p.T765I|DPP6_uc011kvq.2_Missense_Mutation_p.T720I	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	827					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CATTACTTTACCAGCTCCAGC	0.522000														46			15		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179537370	179537370	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr2:179537370G>T	uc021vsy.1	-	147	31169	c.30944C>A	c.(30943-30945)cCa>cAa	p.P10315Q	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6976Q|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'Flank|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11242	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.C10314*(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)			ACCTTTGGCTGGGGGTGCCTC	0.358000														15			7		0.00198382	0.00204091	1	1	0
ATP10B	23120	broad.mit.edu	37	5	160039894	160039894	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr5:160039894G>A	uc003lym.1	-	17	3539	c.2692C>T	c.(2692-2694)Cca>Tca	p.P898S	ATP10B_uc010jit.1_Missense_Mutation_p.P215S|ATP10B_uc003lyn.3_Missense_Mutation_p.P456S	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	898					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCGTATCTGGAACTCCTTCC	0.517000														19			6		0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43542949	43542949	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr21:43542949C>T	uc002zag.1	+	15	3220	c.3220C>T	c.(3220-3222)Cct>Tct	p.P1074S	UMODL1_uc002zad.1_Missense_Mutation_p.P874S|UMODL1_uc002zae.1_Missense_Mutation_p.P1002S|UMODL1_uc002zaf.1_Missense_Mutation_p.P946S|UMODL1_uc002zal.1_5'UTR	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	946	ZP.					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						AGGTGACTCTCCTGGCAATGA	0.617000														30			9		0	0	1	0	0
C9orf152	401546	broad.mit.edu	37	9	112963752	112963752	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr9:112963752C>T	uc011lwk.2	-	1	750	c.196G>A	c.(196-198)Gga>Aga	p.G66R	C9orf152_uc022blq.1_5'Flank	NM_001012993	NP_001013011	Q5JTZ5	CI152_HUMAN	Homo sapiens chromosome 9 open reading frame 152 (C9orf152), mRNA.	66										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GGTGTGTTTCCTCCTGAAAAG	0.522000														22			11		0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166960634	166960634	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr1:166960634T>A	uc001gdy.1	+	2	316	c.245T>A	c.(244-246)cTg>cAg	p.L82Q	MAEL_uc021peh.1_Missense_Mutation_p.L26Q|MAEL_uc001gdz.1_Missense_Mutation_p.L51Q|MAEL_uc009wvf.1_Non-coding_Transcript	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	82					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TTCACACCACTGAGGAGGCCA	0.388000														157			24		0	0	1	0	0
PITX2	5308	broad.mit.edu	37	4	111539828	111539828	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr4:111539828C>G	uc003iaf.3	-	6	2230	c.407G>C	c.(406-408)cGt>cCt	p.R136P	PITX2_uc003iac.3_Missense_Mutation_p.R143P|PITX2_uc003iad.3_Missense_Mutation_p.R136P|PITX2_uc021xqr.1_Missense_Mutation_p.R136P|PITX2_uc003iae.3_Missense_Mutation_p.R90P|PITX2_uc021xqs.1_Missense_Mutation_p.R90P	NM_001204397	NP_001191326	Q99697	PITX2_HUMAN	Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 4, mRNA.	136			R -> C (in RIEG1).		determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		TTTGGCCCGACGATTCTTGAA	0.582000														30			71		0	0	1	0	0
TCERG1L	256536	broad.mit.edu	37	10	133058652	133058652	+	Silent	SNP	G	T	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr10:133058652G>T	uc001lkp.3	-	3	812	c.726C>A	c.(724-726)acC>acA	p.T242T	TCERG1L_uc009yax.1_Non-coding_Transcript	NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	Homo sapiens transcription elongation regulator 1-like (TCERG1L), mRNA.	242	Poly-Ala.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		cggcggcggcggtggcgatgg	0.682000														4			3		0.004672	0.00477211	1	1	0
OR2Z1	284383	broad.mit.edu	37	19	8841458	8841458	+	Nonsense_Mutation	SNP	C	G	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr19:8841458C>G	uc010xkg.2	+	0	68	c.68C>G	c.(67-69)tCa>tGa	p.S23*		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CACTCAGGATCACGCCAGCTC	0.527000														95			8		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55534057	55534057	+	Silent	SNP	C	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr8:55534057C>A	uc003xsd.1	+	1	679	c.531C>A	c.(529-531)acC>acA	p.T177T	RP1_uc011ldy.1_Silent_p.T177T	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	177	Doublecortin 2.				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)			GGAGGGTCACCCAGAGCTTCG	0.637000														227			42		9.39024e-22	1.19893e-21	1	1	0
ALG8	79053	broad.mit.edu	37	11	77835256	77835256	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr11:77835256G>C	uc001oza.1	-	2	244	c.179C>G	c.(178-180)aCt>aGt	p.T60S	ALG8_uc001oyz.1_Missense_Mutation_p.T60S|ALG8_uc009yuy.1_Non-coding_Transcript	NM_024079	NP_076984	Q9BVK2	ALG8_HUMAN	Homo sapiens asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) (ALG8), transcript variant 1, mRNA.	60					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			CCACTCTGAAGTTGCCTGTGA	0.348000														547			18		0	0	1	0	0
TRIM28	10155	broad.mit.edu	37	19	59060877	59060877	+	Silent	SNP	A	G	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr19:59060877A>G	uc002qtg.1	+	12	2131	c.1842A>G	c.(1840-1842)ccA>ccG	p.P614P	TRIM28_uc010eut.1_Silent_p.P532P|TRIM28_uc002qth.1_Silent_p.P229P	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	Homo sapiens tripartite motif containing 28 (TRIM28), mRNA.	614					epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		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;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CCTCAGCCCCAGGTGGTGGCC	0.627000														61			20		0	0	1	0	0
MAP4K3	8491	broad.mit.edu	37	2	39664094	39664094	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr2:39664094G>C	uc002rro.3	-	0	126	c.35C>G	c.(34-36)cCg>cGg	p.P12R	MAP4K3_uc002rrp.3_Missense_Mutation_p.P12R|LOC728730_uc002rrq.3_Intron|LOC728730_uc002rrr.1_5'Flank	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA.	12					JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.P12T(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GTCCTCCTGCGGGTTCCGGCG	0.726000														19			9		0	0	1	0	0
SUV420H1	51111	broad.mit.edu	37	11	67925597	67925597	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr11:67925597T>A	uc001onm.1	-	10	2472	c.2216A>T	c.(2215-2217)aAc>aTc	p.N739I	SUV420H1_uc009yse.1_Missense_Mutation_p.N325I|SUV420H1_uc001onn.1_Missense_Mutation_p.N567I|SUV420H1_uc009ysf.2_Missense_Mutation_p.N499I	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA.	739					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTTGGAAGAGTTCATTCCATC	0.378000														385			25		0	0	1	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159781846	159781846	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr5:159781846C>T	uc003lyd.3	-	1	312	c.308G>A	c.(307-309)gGa>gAa	p.G103E		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 2 (C1QTNF2), mRNA.	58	Collagen-like.					collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	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)			GCCCATTCGTCCCATCATTCC	0.657000														17			5		0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41753382	41753382	+	Silent	SNP	T	C	C			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr22:41753382T>C	uc003azw.3	+	22	3099	c.2883T>C	c.(2881-2883)ggT>ggC	p.G961G		NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	977					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						ACCTTGCCGGTGCCACCCCAG	0.647000														164			42		0	0	1	0	0
PPP6R3	55291	broad.mit.edu	37	11	68359131	68359131	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr11:68359131G>A	uc001onv.3	+	17	2140	c.1873G>A	c.(1873-1875)Gaa>Aaa	p.E625K	PPP6R3_uc001onw.3_Missense_Mutation_p.E625K|PPP6R3_uc001ony.4_Missense_Mutation_p.E596K|PPP6R3_uc001onx.3_Missense_Mutation_p.E619K|PPP6R3_uc009ysh.3_Missense_Mutation_p.E545K|PPP6R3_uc001onu.3_Missense_Mutation_p.E545K|PPP6R3_uc010rqc.2_Missense_Mutation_p.E393K|PPP6R3_uc010rqd.2_Missense_Mutation_p.E308K|PPP6R3_uc001onz.3_5'UTR|PPP6R3_uc001ooa.3_Missense_Mutation_p.E75K	NM_001164160	NP_001157632	Q5H9R7	PP6R3_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 3 (PPP6R3), transcript variant 4, mRNA.	625					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TATATGGGAGGAAAAGCACAT	0.363000														95			12		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158637678	158637678	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr1:158637678C>T	uc001fst.1	-	14	2207	c.2008G>A	c.(2008-2010)Gag>Aag	p.E670K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	670					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)					AGCAACTCCTCCCAGAGGCTG	0.438000														36			12		0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49722502	49722502	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr3:49722502C>G	uc003cxg.3	-	13	1637	c.1565G>C	c.(1564-1566)gGg>gCg	p.G522A		NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	508	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.R521G(2)		NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TAGAGACCCCCCGCAGAAATG	0.577000														20			3		0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841900	8841900	+	Silent	SNP	C	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr19:8841900C>A	uc010xkg.2	+	0	510	c.510C>A	c.(508-510)gcC>gcA	p.A170A		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCTACTGTGCCTCCCGTATTG	0.577000														242			47		5.34276e-22	6.88301e-22	1	1	0
STK32A	202374	broad.mit.edu	37	5	146752778	146752778	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr5:146752778T>C	uc011dbw.1	+	9	1104	c.824T>C	c.(823-825)gTc>gCc	p.V275A	STK32A_uc003lom.2_Missense_Mutation_p.V275A|STK32A_uc010jgn.1_Missense_Mutation_p.V275A	NM_001112724	NP_001106195	Q8WU08	ST32A_HUMAN	Homo sapiens serine/threonine kinase 32A (STK32A), transcript variant 1, mRNA.	275	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity	p.D274N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTATCTGATGTCCAGAACTTC	0.388000														59			34		0	0	1	0	0
PCSK7	9159	broad.mit.edu	37	11	117076907	117076907	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr11:117076907A>T	uc001pqr.3	-	16	2365	c.2164T>A	c.(2164-2166)Tca>Aca	p.S722T		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 7 (PCSK7), mRNA.	722					peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		AGTGGCACTGATTCTAGCTCT	0.587000			T	IGH@	MLCLS									42			7		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168833460	168833460	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr3:168833460G>T	uc011bpj.1	-	7	2603	c.2200C>A	c.(2200-2202)Cag>Aag	p.Q734K	MECOM_uc010hwk.1_Missense_Mutation_p.Q569K|MECOM_uc003ffj.3_Missense_Mutation_p.Q611K|MECOM_uc003ffi.3_Missense_Mutation_p.Q546K|MECOM_uc011bpi.1_Missense_Mutation_p.Q547K|MECOM_uc003ffn.3_Missense_Mutation_p.Q546K|MECOM_uc003ffk.2_Missense_Mutation_p.Q546K|MECOM_uc003ffl.2_Missense_Mutation_p.Q706K|MECOM_uc011bpk.1_Missense_Mutation_p.Q546K|MECOM_uc010hwn.2_Missense_Mutation_p.Q734K	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	56							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTGCCCTTCTGCAGTTTCTTT	0.493000														65			28		1.16021e-09	1.31674e-09	1	1	0
PRUNE2	158471	broad.mit.edu	37	9	79318636	79318636	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr9:79318636C>A	uc010mpk.3	-	8	8017	c.7893G>T	c.(7891-7893)caG>caT	p.Q2631H	PRUNE2_uc004akj.4_Missense_Mutation_p.Q84H|PRUNE2_uc022big.1_Non-coding_Transcript|PRUNE2_uc010mpl.1_Missense_Mutation_p.Q84H|PRUNE2_uc022bih.1_Missense_Mutation_p.Q2453H	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2631					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACATCCAACTCTGGTCTTGTG	0.502000														20			6		0.217242	0.217242	1	1	0
RPS10-NUDT3	100529239	broad.mit.edu	37	6	34256561	34256561	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr6:34256561G>C	uc003ojl.3	-	4	806	c.488C>G	c.(487-489)tCt>tGt	p.S163C	RPS10-NUDT3_uc021yyt.1_Missense_Mutation_p.S282C|DQ591995_uc021yys.1_5'Flank	NM_006703	NP_006694			Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 3 (NUDT3), mRNA.																		GCTCTGAGCAGAAACCGAGTA	0.478000														124			19		0	0	1	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157360	26157360	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chrX:26157360C>A	uc022bub.1	+	0	258	c.258C>A	c.(256-258)agC>agA	p.S86R	MAGEB18_uc004dbq.2_Missense_Mutation_p.S86R	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA.	86							protein binding	p.A85T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AAGGTGCCAGCAGCCAAGATG	0.498000														34			11		1.61879e-10	1.8519e-10	1	1	0
SLC24A3	57419	broad.mit.edu	37	20	19665842	19665842	+	Silent	SNP	C	A	A	rs139129126		TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr20:19665842C>A	uc002wrl.3	+	11	1358	c.1161C>A	c.(1159-1161)ccC>ccA	p.P387P		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	387						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGACAGGGCCCAGCAGTGCCC	0.517000														46			12		0.00010058	0.000104985	1	1	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725572	32725572	+	Silent	SNP	G	A	A	rs116284473	byFrequency	TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr6:32725572G>A	uc003obz.2	-	3	818	c.735C>T	c.(733-735)atC>atT	p.I245I	HLA-DQB2_uc003oby.4_Intron	NM_001198858	NP_001185787	Q5SR06	Q5SR06_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ beta 2 (HLA-DQB2), mRNA.	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	MHC class II protein complex|integral to membrane				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						TGTGACGGATGATAAGGCCCA	0.557000														21			5		0	0	1	0	0
DNAJC28	54943	broad.mit.edu	37	21	34861655	34861655	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr21:34861655G>T	uc021wim.1	-	0	46	c.46C>A	c.(46-48)Ctg>Atg	p.L16M	DNAJC28_uc002yrv.3_Missense_Mutation_p.L16M|DNAJC28_uc002yrw.3_Missense_Mutation_p.L16M	NM_017833	NP_060303	Q9NX36	DJC28_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 28 (DNAJC28), transcript variant 1, mRNA.	16							heat shock protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						GCCTTTATCAGGTGAGATCTT	0.343000														63			12		2.31682e-05	2.47243e-05	1	1	0
ZNF544	27300	broad.mit.edu	37	19	58772365	58772365	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr19:58772365G>T	uc010euo.3	+	6	867	c.393G>T	c.(391-393)caG>caT	p.Q131H	ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.2_Missense_Mutation_p.Q103H|ZNF544_uc010yhy.2_Missense_Mutation_p.Q103H|ZNF544_uc002qrt.4_5'UTR|ZNF544_uc002qru.4_5'UTR|BC063675_uc002qrx.1_Intron	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	Homo sapiens zinc finger protein 544 (ZNF544), mRNA.	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AGAGCAACCAGTTAAGGGAAC	0.502000														48			15		3.35478e-16	4.17159e-16	1	1	0
MUC17	140453	broad.mit.edu	37	7	100685916	100685916	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr7:100685916G>A	uc003uxp.1	+	2	11272	c.11219G>A	c.(11218-11220)aGc>aAc	p.S3740N	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3740	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)					ACTCTTGACAGCACCACCATG	0.498000														176			6		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70954677	70954677	+	Silent	SNP	C	T	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr12:70954677C>T	uc001swb.4	-	14	3582	c.3552G>A	c.(3550-3552)cgG>cgA	p.R1184R	PTPRB_uc010sto.2_Silent_p.R1094R|PTPRB_uc010stp.2_Silent_p.R1094R|PTPRB_uc001swc.4_Silent_p.R1402R|PTPRB_uc001swa.4_Silent_p.R1314R|PTPRB_uc001swd.4_Silent_p.R1401R|PTPRB_uc009zrr.2_Silent_p.R1281R	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1184	Fibronectin type-III 14.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTGTCGTGTTCCGATTGGACC	0.458000														197			81		0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47408892	47408892	+	Silent	SNP	A	G	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr4:47408892A>G	uc003gxh.3	+	7	1403	c.1029A>G	c.(1027-1029)aaA>aaG	p.K343K	GABRB1_uc011bze.2_Silent_p.K273K	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	343					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)	GAGCTAGCAAACAAGACCAGA	0.378000														44			13		0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143074615	143074615	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr6:143074615C>T	uc003qjd.3	-	9	7713	c.6970G>A	c.(6970-6972)Gaa>Aaa	p.E2324K		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	2324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		TGTATATTTTCCTCCTGTTCC	0.567000														27			23		0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56270384	56270384	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr8:56270384T>G	uc003xsf.3	+	1	985	c.953T>G	c.(952-954)cTg>cGg	p.L318R		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	318						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GCTCCACAGCTGGTCCTGCAG	0.463000														40			14		0	0	1	0	0
GLA	2717	broad.mit.edu	37	X	100656776	100656776	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chrX:100656776G>T	uc004ehl.1	-	2	501	c.391C>A	c.(391-393)Cta>Ata	p.L131I	RPL36A-HNRNPH2_uc022cag.1_Intron|RPL36A-HNRNPH2_uc022cah.1_Intron|GLA_uc011mrj.1_Missense_Mutation_p.L131I	NM_000169	NP_000160	P06280	AGAL_HUMAN	Homo sapiens galactosidase, alpha (GLA), mRNA.	131			L -> P (in FD).		glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	Golgi apparatus|extracellular region|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14					Agalsidase beta(DB00103)	TAAATCCCTAGCTTCAGTCCT	0.478000														60			29		1.30897e-18	1.64196e-18	1	1	0
ADAMTS3	9508	broad.mit.edu	37	4	73161465	73161465	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr4:73161465C>A	uc003hgk.2	-	18	2666	c.2629G>T	c.(2629-2631)Gat>Tat	p.D877Y		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	877	TSP type-1 2.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATTTTATTATCACTTTTCCTA	0.378000														12			57		2.40265e-35	3.18129e-35	1	1	0
OR2Z1	284383	broad.mit.edu	37	19	8841570	8841570	+	Silent	SNP	C	T	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr19:8841570C>T	uc010xkg.2	+	0	180	c.180C>T	c.(178-180)taC>taT	p.Y60Y		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y60H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CACCCATGTACTTCCTGCTCA	0.552000														197			20		0	0	1	0	0
STYK1	55359	broad.mit.edu	37	12	10783871	10783871	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr12:10783871C>A	uc001qys.2	-	4	745	c.224G>T	c.(223-225)tGg>tTg	p.W75L		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA.	75						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						TCCTGCTTCCCAGCTTAGGTC	0.552000										HNSCC(73;0.22)				85			19		5.35267e-07	5.93358e-07	1	1	0
LILRB5	10990	broad.mit.edu	37	19	54754879	54754879	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr19:54754879T>G	uc010yer.1	-	12	1867	c.1756A>C	c.(1756-1758)Act>Cct	p.T586P	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Intron|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Intron|LILRB5_uc002qfa.1_3'UTR			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	392					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	p.A585A(1)|p.A585S(1)		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)		ACTCTCTCAGTGTCCATCTGT	0.602000														22			3		0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70613284	70613284	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chrX:70613284G>A	uc004dzu.4	+	20	3233	c.3182G>A	c.(3181-3183)cGt>cAt	p.R1061H	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.R1082H|TAF1_uc004dzv.4_Missense_Mutation_p.R235H	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	1061					G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CATCAAGAGCGTTACAAAGAG	0.507000														53			12		0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55592028	55592028	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr4:55592028C>G	uc010igr.3	+	8	1439	c.1352C>G	c.(1351-1353)tCt>tGt	p.S451C	KIT_uc010igs.3_Missense_Mutation_p.S451C|KIT_uc011bzw.1_5'Flank|KIT_uc010igt.2_5'Flank	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	451	Ig-like C2-type 5.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.(449_514)?(42)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTTAGATGCTCTGCTTCTGTA	0.398000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors					3			31		0	0	1	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204242842	204242842	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr1:204242842G>A	uc001hau.3	-	2	331	c.14C>T	c.(13-15)aCa>aTa	p.T5I		NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	5										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)			TTTCCCACCTGTTTTATTGGA	0.522000														55			17		0	0	1	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58187713	58187713	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr19:58187713G>T	uc002qpu.3	+	2	897	c.200G>T	c.(199-201)aGg>aTg	p.R67M		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	Homo sapiens zinc finger and SCAN domain containing 4 (ZSCAN4), mRNA.	67	SCAN box.				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGACTTTATAGGATCTTTCAC	0.403000														70			18		6.49762e-13	7.743e-13	1	1	0
C1QC	714	broad.mit.edu	37	1	22973880	22973880	+	Nonsense_Mutation	SNP	C	G	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr1:22973880C>G	uc001bgc.4	+	2	445	c.342C>G	c.(340-342)taC>taG	p.Y114*	C1QC_uc001bga.4_Nonsense_Mutation_p.Y114*	NM_172369	NP_758957	P02747	C1QC_HUMAN	Homo sapiens complement component 1, q subcomponent, C chain (C1QC), transcript variant 2, mRNA.	114					complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGGCAGATACAAGCAGAAAT	0.637000														52			47		0	0	1	0	0
REPS2	9185	broad.mit.edu	37	X	17165594	17165594	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chrX:17165594C>G	uc004cxv.1	+	17	2144	c.1973C>G	c.(1972-1974)aCt>aGt	p.T658S	REPS2_uc004cxw.1_Missense_Mutation_p.T657S|REPS2_uc011miw.1_Missense_Mutation_p.T456S	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 2 (REPS2), transcript variant 1, mRNA.	658	Interaction with ASAP1 (By similarity).|Interaction with RALBP1.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					CGTCCGGTCACTGTGTTGTGA	0.423000														159			53		0	0	1	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698455	111698455	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chrX:111698455C>A	uc022cct.1	+	0	499	c.499C>A	c.(499-501)Cac>Aac	p.H167N	ZCCHC16_uc004epo.1_Missense_Mutation_p.H167N	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	Homo sapiens zinc finger, CCHC domain containing 16 (ZCCHC16), mRNA.	167							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGCTACTTTCCACCTCCTCGC	0.453000														51			21		4.35082e-09	4.89895e-09	1	1	0
GPR1	2825	broad.mit.edu	37	2	207041072	207041072	+	Silent	SNP	G	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr2:207041072G>A	uc021vvl.1	-	0	900	c.900C>T	c.(898-900)aaC>aaT	p.N300N	GPR1_uc002vbl.4_Silent_p.N300N|GPR1_uc010fue.3_Silent_p.N300N|GPR1_uc010fuf.3_Silent_p.N300N	NM_005279	NP_005270	P46091	GPR1_HUMAN	Homo sapiens G protein-coupled receptor 1 (GPR1), transcript variant 1, mRNA.	300						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		AAAGGATGGGGTTCAAGCAAC	0.483000														77			22		0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266125	41266125	+	Missense_Mutation	SNP	C	A	A	rs121913413		TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr3:41266125C>A	uc010hia.1	+	3	278	c.122C>A	c.(121-123)aCc>aAc	p.T41N	CTNNB1_uc003ckq.2_Missense_Mutation_p.T41N|CTNNB1_uc003ckp.2_Missense_Mutation_p.T41N|CTNNB1_uc003ckr.2_Missense_Mutation_p.T41N|CTNNB1_uc011azf.1_Missense_Mutation_p.T34N|CTNNB1_uc011azg.1_Intron|AK311005_uc010hib.1_Non-coding_Transcript	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	41			T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer).		Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.T41A(622)|p.T41I(152)|p.A5_A80del(119)|p.A5_A80>D(14)|p.A5_Q143del(14)|p.T41N(13)|p.T40I(12)|p.Q28_H134del(10)|p.H24_S47del(9)|p.T41S(9)|p.T41P(7)|p.W25_I140del(7)|p.T3_A126del(4)|p.M5_N141>D(4)|p.D32_S47del(4)|p.A5_Y142>D(4)|p.?(4)|p.L10_N141del(4)|p.S37_G48>C(2)|p.Q28_Q61del(2)|p.A20_N141del(2)|p.D11_Y142>H(2)|p.Y30_A97del(2)|p.T40_L46del(2)|p.Q28_A43del(2)|p.E15_I140>V(2)|p.H24_M131del(2)|p.A13_R151del(2)|p.M1_A87del(2)|p.V22_T102del(2)|p.A21_A80del(2)|p.P16_K133del(2)|p.A39_T42del(2)|p.I35_K170del(2)|p.M14_S45del(2)|p.Q4_A80del(2)|p.V22_L139>V(2)|p.T41T(2)|p.V22_S71>A(2)|p.A20_A80del(2)|p.A5_T59del(2)|p.M1_V173del(2)|p.V22_Y64del(2)|p.T40S(2)|p.T40T(2)|p.M8_A80del(2)|p.A5_Q143>E(2)|p.H36_E53>L(2)|p.Y30_A80del(2)|p.A5fs*7(2)|p.T41_N51del(2)|p.A5_E54del(2)|p.I35_T41del(2)|p.A20_S111del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.A20_R151del(1)|p.D17_P128del(1)|p.L7_I140del(1)|p.G38_S45del(1)|p.M8_L132del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.V22_G80>NNNNN(1)|p.A20_Q143del(1)|p.S23_I140del(1)|p.Q4_D144del(1)|p.V22_A97del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.A5_R90del(1)|p.T40A(1)|p.E9_I140del(1)|p.Y30_T40del(1)|p.M1_T42del(1)|p.A5_Q72del(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.A5_T40del(1)|p.D17_A126del(1)|p.Q4_Y142del(1)|p.W25_A80del(1)|p.5_142>(1)|p.A20_Q72del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GGTGCCACTACCACAGCTCCT	0.507000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of					39			14		4.93089e-13	5.92536e-13	1	1	0
PLEC	5339	broad.mit.edu	37	8	144998583	144998583	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr8:144998583C>G	uc003zaf.1	-	30	6095	c.5925G>C	c.(5923-5925)aaG>aaC	p.K1975N	PLEC_uc003zab.1_Missense_Mutation_p.K1838N|PLEC_uc003zac.1_Missense_Mutation_p.K1842N|PLEC_uc003zad.2_Missense_Mutation_p.K1838N|PLEC_uc003zae.1_Missense_Mutation_p.K1806N|PLEC_uc003zag.1_Missense_Mutation_p.K1816N|PLEC_uc003zah.2_Missense_Mutation_p.K1824N|PLEC_uc003zaj.2_Missense_Mutation_p.K1865N	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	1975	Central fibrous rod domain.				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						TGGCGGCCAGCTTCTCCGCAA	0.746000														21			9		0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841638	8841638	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr19:8841638C>T	uc010xkg.2	+	0	248	c.248C>T	c.(247-249)tCa>tTa	p.S83L		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AAGATGGCATCAGACTTTCTG	0.567000														121			10		0	0	1	0	0
TFB1M	51106	broad.mit.edu	37	6	155606317	155606317	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr6:155606317C>A	uc003qqj.4	-	4	696	c.641G>T	c.(640-642)gGa>gTa	p.G214V	TFB1M_uc003qqk.3_Intron	NM_016020	NP_057104	Q8WVM0	TFB1M_HUMAN	Homo sapiens transcription factor B1, mitochondrial (TFB1M), nuclear gene encoding mitochondrial protein, mRNA.	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		AAAAGCTTGTCCTGGAATCGT	0.443000														42			17		2.94398e-08	3.28898e-08	1	1	0
UNC13C	440279	broad.mit.edu	37	15	54586172	54586172	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr15:54586172C>A	uc021smr.1	+	8	3892	c.3892C>A	c.(3892-3894)Cat>Aat	p.H1298N	UNC13C_uc021sms.1_Missense_Mutation_p.H1300N|UNC13C_uc002acl.3_Missense_Mutation_p.H130N	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1300	C2 1.				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)		AGTCAAGCAACATTTCAAAAA	0.368000														56			27		2.44723e-14	2.99106e-14	1	1	0
EFR3A	23167	broad.mit.edu	37	8	132968066	132968066	+	Silent	SNP	T	A	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr8:132968066T>A	uc003yte.3	+	6	894	c.690T>A	c.(688-690)ccT>ccA	p.P230P		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA.	230						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			AAGAGAATCCTGCTGTGCTGG	0.403000														124			20		0	0	1	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129236	248129236	+	Silent	SNP	A	G	G	rs75127345	byFrequency	TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr1:248129236A>G	uc010pzd.2	+	0	603	c.603A>G	c.(601-603)tcA>tcG	p.S201S	OR2L13_uc001ids.3_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AK, member 2 (OR2AK2), mRNA.	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	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;0.0152)			CTCTACTATCATTGGTGTGTC	0.428000														40			13		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47363917	47363917	+	Missense_Mutation	SNP	A	G	G	rs138128932	by1000genomes	TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr18:47363917A>G	uc002leb.2	-	36	5396	c.5108T>C	c.(5107-5109)gTc>gCc	p.V1703A	MYO5B_uc002ldz.3_Missense_Mutation_p.V273A|MYO5B_uc002lea.2_Missense_Mutation_p.V818A	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1703	Dilute.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.V1703A(10)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCAAGAGCAGACGTCCTTCCG	0.527000														35			4		0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43680070	43680070	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr19:43680070C>T	uc002ovu.3	-	2	792	c.661G>A	c.(661-663)Gac>Aac	p.D221N	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.D221N	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	221	Ig-like C2-type 1.				female pregnancy	extracellular region		p.R220Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CCATCTCGGTCCCGTATTTCA	0.502000														159			50		0	0	1	0	0
LZIC	84328	broad.mit.edu	37	1	9990459	9990460	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr1:9990459_9990460insT	uc010oah.2	-	7	701_702	c.633_634insA	c.(631-636)aaatgafs	p.K211fs	LZIC_uc001aqm.3_Frame_Shift_Ins_p.K190fs|LZIC_uc001aqo.3_Frame_Shift_Ins_p.K190fs|LZIC_uc009vmr.3_Frame_Shift_Ins_p.K190fs	NM_032368	NP_115744	Q8WZA0	LZIC_HUMAN	Homo sapiens leucine zipper and CTNNBIP1 domain containing (LZIC), mRNA.	190							beta-catenin binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.29e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;0.000242)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.00842)|READ - Rectum adenocarcinoma(331;0.0419)		GCACCATGTCATTTTTTTGTTT	0.337													---	156	---	---	64	---					
CCT6A	908	broad.mit.edu	37	7	56128613	56128614	+	Frame_Shift_Ins	INS	-	CATT	CATT			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr7:56128613_56128614insCATT	uc003trl.1	+	10	1491_1492	c.1327_1328insCATT	c.(1327-1329)gcafs	p.A443fs	PSPH_uc003trj.3_Intron|CCT6A_uc003trm.1_Frame_Shift_Ins_p.A398fs|CCT6A_uc011kcu.1_Frame_Shift_Ins_p.A412fs	NM_001762	NP_001753	P40227	TCPZ_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 6A (zeta 1) (CCT6A), transcript variant 1, mRNA.	443					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding	p.D442N(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATTTGCTGATGCATTGCTCATT	0.441													---	21	---	---	7	---					
KANK1	23189	broad.mit.edu	37	9	732474	732475	+	In_Frame_Ins	INS	-	GAG	GAG	rs113586916		TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr9:732474_732475insGAG	uc003zgl.1	+	9	3751_3752	c.3102_3103insGAG	c.(3100-3105)insGAG	p.1039_1040insE	KANK1_uc003zgm.3_3'UTR|KANK1_uc003zgn.1_In_Frame_Ins_p.1039_1040insE|KANK1_uc003zgs.1_In_Frame_Ins_p.881_882insE|KANK1_uc010mgx.1_5'UTR|KANK1_uc010mgy.1_5'UTR|KANK1_uc003zgt.1_5'Flank	NM_015158	NP_055973	Q14678	KANK1_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 1 (KANK1), transcript variant 1, mRNA.	1039					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CTCTTGAAGAAGAGGAGGAGGA	0.460													---	97	---	---	18	---					
TYRP1	7306	broad.mit.edu	37	9	12702411	12702414	+	Frame_Shift_Del	DEL	ACAA	-	-			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr9:12702411_12702414delACAA	uc003zkv.4	+	4	1232_1235	c.1054_1057delACAA	c.(1054-1059)acaaacfs	p.T352fs		NM_000550	NP_000541	P17643	TYRP1_HUMAN	Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA.	352					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	p.N353fs*31(4)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TTCCAACTCTACAAACAGTTTCCG	0.387									Oculocutaneous Albinism				---	27	---	---	9	---					
KRT2	3849	broad.mit.edu	37	12	53045603	53045604	+	In_Frame_Ins	INS	-	AAGCCGCTGCCACCTCCA	AAGCCGCTGCCACCTCCA	rs35124031		TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr12:53045603_53045604insAAGCCGCTGCCACCTCCA	uc001sat.3	-	0	356_357	c.323_324insTGGAGGTGGCAGCGGCTT	c.(322-324)ttc>ttTGGAGGTGGCAGCGGCTTc	p.108_108F>FGGGSGF		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	108	Head.			F -> FGGGSGF (in Ref. 1; AAC83410 and 2; AAB81946).	keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		caccaccactgaagccgctgcc	0.629													---	10	---	---	5	---					
ZNF208	7757	broad.mit.edu	37	19	22154697	22154697	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr19:22154697delG	uc021urr.1	-	3	3288	c.3139delC	c.(3139-3141)catfs	p.H1047fs	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTTGCCTTATGTTCAGTAAGG	0.438													---	53	---	---	35	---