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
APOB	338	broad.mit.edu	37	2	21260932	21260933	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr2:21260932_21260933CG>AT	uc002red.3	-	4	562_563	c.434_435CG>AT	c.(433-435)ccg>cAT	p.P145H		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	145	Vitellogenin.		P -> S (in dbSNP:rs6752026).		cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.P145P(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CATCTTTCTCCGGGTAAAGGAA	0.490000														461			11		0	0	6.4e-05	0	0
ERC1	23085	broad.mit.edu	37	12	1137146	1137146	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr12:1137146G>A	uc001qjb.2	+	1	318	c.77G>A	c.(76-78)cGt>cAt	p.R26H	ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Missense_Mutation_p.R26H|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Non-coding_Transcript|ERC1_uc001qjf.2_Missense_Mutation_p.R26H	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA.	26					I-kappaB phosphorylation|multicellular organismal development|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			AGGCTTCCACGTTCCCCTCGC	0.572000														48			7		0	0	1.12685e-05	0	0
ATF6B	1388	broad.mit.edu	37	6	32088661	32088662	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr6:32088661_32088662CG>AT	uc003nzn.3	-	7	751_752	c.718_719CG>AT	c.(718-720)cgg>ATg	p.R240M	ATF6B_uc003nzm.1_5'Flank|ATF6B_uc003nzo.3_Missense_Mutation_p.R237M|ATF6B_uc003nzp.1_5'Flank|ATF6B_uc011dpg.2_Missense_Mutation_p.R174M|ATF6B_uc011dph.2_Missense_Mutation_p.R240M	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA.	240					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TGGCGGCTTCCGGGTGGGCAGG	0.559000														461			11		0	0	6.4e-05	0	0
L1CAM	3897	broad.mit.edu	37	X	153130422	153130422	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chrX:153130422G>A	uc004fjb.3	-	21	3008	c.2900C>T	c.(2899-2901)tCc>tTc	p.S967F	L1CAM_uc004fjc.3_Missense_Mutation_p.S967F|L1CAM_uc010nuo.3_Missense_Mutation_p.S962F	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	967	Fibronectin type-III 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGGTTGAAGGACAGTTGCCC	0.657000														239			36		0	0	0.000191422	0	0
TMEM147	10430	broad.mit.edu	37	19	36036834	36036834	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr19:36036834C>A	uc002oaj.2	+	1	262	c.122C>A	c.(121-123)aCc>aAc	p.T41N	AX747325_uc002oag.3_Intron|AX747325_uc021usq.1_5'Flank|TMEM147_uc002oai.2_5'UTR|TMEM147_uc021usr.1_Missense_Mutation_p.T41N	NM_032635	NP_001229526	Q9BVK8	TM147_HUMAN	Homo sapiens transmembrane protein 147 (TMEM147), transcript variant 1, mRNA.	41						endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCTGGAGTCACCTACCTCTTT	0.682000														38			5		1.23904e-05	0.00155945	1.23904e-05	1	0
ZNF142	7701	broad.mit.edu	37	2	219508853	219508854	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr2:219508853_219508854GG>TT	uc002vin.3	-	7	2821_2822	c.2385_2386CC>AA	c.(2383-2388)ccccca>ccAAca	p.P796T	ZNF142_uc002vil.3_Missense_Mutation_p.P757T|ZNF142_uc010fvt.3_Missense_Mutation_p.P633T|ZNF142_uc002vim.3_Missense_Mutation_p.P633T	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	796					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCAGGTAATGGGGGCAAGGGTG	0.530000														237			9		0	0	6.4e-05	0	0
MED12	9968	broad.mit.edu	37	X	70342382	70342382	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chrX:70342382G>A	uc004dyy.3	+	8	1472	c.1273G>A	c.(1273-1275)Gag>Aag	p.E425K	MED12_uc011mpq.1_Missense_Mutation_p.E425K|MED12_uc004dyz.3_Missense_Mutation_p.E425K|MED12_uc004dza.3_Missense_Mutation_p.E272K|MED12_uc022byq.1_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	425					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GCGGGAGATCGAGCAGCAGAT	0.488000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome							66			7		0	0	0.000157383	0	0
FTSJD2	23070	broad.mit.edu	37	6	37446287	37446287	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr6:37446287G>T	uc003ons.3	+	21	2509	c.2256G>T	c.(2254-2256)agG>agT	p.R752S		NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 2 (FTSJD2), mRNA.	752	Interaction with POLR2A.|WW.				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						ACATCGTCAGGACAGTGAATG	0.602000														141			19		7.41877e-09	9.79643e-07	0.000229342	1	0
CFB	629	broad.mit.edu	37	6	31917037	31917038	+	Missense_Mutation	DNP	GG	TT	TT	rs141984066		TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr6:31917037_31917038GG>TT	uc003nyj.4	+	8	1464_1465	c.1186_1187GG>TT	c.(1186-1188)ggg>TTg	p.G396L	CFB_uc011dor.2_Missense_Mutation_p.G898L|CFB_uc003nyi.2_Missense_Mutation_p.G396L	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	396	VWFA.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CAACATGGGCGGGGACCCAATT	0.500000														438			11		0	0	6.4e-05	0	0
ATP5H	10476	broad.mit.edu	37	17	73038655	73038656	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr17:73038655_73038656GG>TT	uc002jmn.1	-	1	154_155	c.90_91CC>AA	c.(88-93)tccctg>tcAAtg	p.L31M	KCTD2_uc010dfy.1_Intron|KCTD2_uc010dfz.3_Intron|ATP5H_uc002jmo.1_Missense_Mutation_p.L31M	NM_006356	NP_006347	O75947	ATP5H_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d (ATP5H), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	31					ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			lung(1)|skin(1)	2	all_lung(278;0.226)					CAGGATTTCAGGGAACTAGCAA	0.450000														335			10		0	0	6.4e-05	0	0
HNRNPH2	3188	broad.mit.edu	37	X	100667886	100667886	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chrX:100667886G>T	uc022cai.1	+	0	910	c.910G>T	c.(910-912)Gat>Tat	p.D304Y	RPL36A-HNRNPH2_uc022cag.1_3'UTR|RPL36A-HNRNPH2_uc022cah.1_3'UTR|HNRNPH2_uc004ehm.3_Missense_Mutation_p.D304Y|HNRNPH2_uc004ehn.3_Missense_Mutation_p.D304Y	NM_019597	NP_062543	P55795	HNRH2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein H2 (H') (HNRNPH2), transcript variant 1, mRNA.	304	2 X 16 AA Gly-rich approximate repeats.|RRM 3.				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						CACTGAGAATGATATTTATAA	0.448000														98			20		3.51602e-12	4.80026e-10	0.000132079	1	0
POLG	5428	broad.mit.edu	37	15	89872271	89872271	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr15:89872271C>A	uc002bns.4	-	3	1208	c.926G>T	c.(925-927)cGc>cTc	p.R309L	POLG_uc002bnr.4_Missense_Mutation_p.R309L	NM_002693	NP_002684	P54098	DPOG1_HUMAN	Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA.	309			R -> L (in PEOB).		DNA-dependent DNA replication|base-excision repair, gap-filling|cell death	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CCACAGACTGCGCTGGAAGCT	0.592000								DNA polymerases (catalytic subunits)						58			5		3.59834e-05	0.00445917	3.59834e-05	1	0
NBPF10	100132406	broad.mit.edu	37	1	144828683	144828683	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr1:144828683C>G	uc009wig.1	+	21	2916	c.2722C>G	c.(2722-2724)Cag>Gag	p.Q908E	NBPF10_uc010oxo.1_Missense_Mutation_p.Q835E|NBPF10_uc010oxn.1_Missense_Mutation_p.Q808E|NBPF10_uc021oth.1_Missense_Mutation_p.Q570E|NBPF10_uc021otj.1_Missense_Mutation_p.Q937E|NBPF10_uc021oto.1_Missense_Mutation_p.Q725E|NBPF10_uc021otr.1_Missense_Mutation_p.Q237E|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Missense_Mutation_p.Q481E|NBPF10_uc010oyd.1_Missense_Mutation_p.Q237E|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	910								p.Q577E(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ATTTGAGGAACAGCACATCAG	0.438000														39			35		0	0	0.000159656	0	0
CELSR2	1952	broad.mit.edu	37	1	109813106	109813107	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr1:109813106_109813107GG>TT	uc001dxa.4	+	23	7428_7429	c.7367_7368GG>TT	c.(7366-7368)tgg>tTT	p.W2456F		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	2456					Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding	p.W2456C(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ACCTTTTCCTGGGCTCTGCTGG	0.649000														828			19		0	0	6.4e-05	0	0
THBD	7056	broad.mit.edu	37	20	23028840	23028840	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr20:23028840G>T	uc002wss.3	-	0	1462	c.1302C>A	c.(1300-1302)gaC>gaA	p.D434E	THBD_uc002wst.1_5'Flank|THBD_uc002wsu.1_Missense_Mutation_p.D375E	NM_000361	NP_000352	P07204	TRBM_HUMAN	Homo sapiens thrombomodulin (THBD), mRNA.	434	EGF-like 5.				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	TGAAACCGTCGTCCAGGATGT	0.617000														86			11		3.86212e-05	0.00471354	3.86212e-05	1	0
SDK1	221935	broad.mit.edu	37	7	3998595	3998595	+	Silent	SNP	C	A	A			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr7:3998595C>A	uc003smx.3	+	7	1322	c.1183C>A	c.(1183-1185)Cgg>Agg	p.R395R		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	395	Ig-like C2-type 4.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCCCGAGAGTCGGATTTCAGC	0.468000														139			14		9.31168e-06	0.00119056	0.000151284	1	0
KDM5B	10765	broad.mit.edu	37	1	202736112	202736112	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr1:202736112G>C	uc009xag.3	-	4	769	c.653C>G	c.(652-654)tCt>tGt	p.S218C	KDM5B_uc001gyf.3_Missense_Mutation_p.S218C|KDM5B_uc001gyg.1_Missense_Mutation_p.S60C	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	218					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AGGCTGCACAGACTGCCTCTG	0.483000														34			6		0	0	3.59834e-05	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778481	31778482	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr6:31778481_31778482GG>TT	uc003nxh.3	-	1	1451_1452	c.1268_1269CC>AA	c.(1267-1269)ccc>cAA	p.P423Q	HSPA1L_uc010jte.3_Missense_Mutation_p.P423Q|HSPA1L_uc021yuz.1_Missense_Mutation_p.P423Q	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	423					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TCTGCTTGGTGGGGATGGTGGA	0.599000														674			16		0	0	6.4e-05	0	0
GPR153	387509	broad.mit.edu	37	1	6314610	6314611	+	Splice_Site	DNP	CG	AT	AT			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr1:6314610_6314611CG>AT	uc001amp.2	-	2	616	c.356_splice	c.e2+1	p.R119_splice		NM_207370	NP_997253	Q6NV75	GP153_HUMAN	Homo sapiens G protein-coupled receptor 153 (GPR153), mRNA.	119						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		ACATGCTCACCGGTAGTTGACA	0.559000														273			9		0	0	6.4e-05	0	0
RP1L1	94137	broad.mit.edu	37	8	10467344	10467345	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr8:10467344_10467345GG>TT	uc003wtc.3	-	3	4492_4493	c.4263_4264CC>AA	c.(4261-4266)tcccag>tcAAag	p.Q1422K		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1422					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCATCTTCCTGGGAGCCTTTCC	0.604000														572			12		0	0	6.4e-05	0	0
FAM122C	159091	broad.mit.edu	37	X	133979412	133979413	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chrX:133979412_133979413GG>TT	uc004exz.2	+	4	732_733	c.326_327GG>TT	c.(325-327)tgg>tTT	p.W109F	FAM122C_uc011mvq.2_Non-coding_Transcript|FAM122C_uc004exy.2_Missense_Mutation_p.W109F	NM_001170779	NP_001164250	Q6P4D5	F222C_HUMAN	Homo sapiens family with sequence similarity 122C (FAM122C), transcript variant 1, mRNA.	109										endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					AGTCACTCTTGGGAAGAAGGCT	0.312000														306			9		0	0	6.4e-05	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209212720	209212720	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr2:209212720A>G	uc002vcz.3	+	34	5505	c.5347A>G	c.(5347-5349)Acc>Gcc	p.T1783A		NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	1783	PIPK.				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CAAGGAGGGGACCGAGAATCA	0.443000														76			4		0	0	1.23904e-05	0	0
C21orf59	56683	broad.mit.edu	37	21	33976511	33976511	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr21:33976511A>G	uc002ypy.2	-	3	823	c.458T>C	c.(457-459)gTt>gCt	p.V153A	C21orf59_uc002ypx.1_Missense_Mutation_p.V46A|C21orf59_uc002ypz.2_Missense_Mutation_p.V153A|C21orf59_uc002yqc.3_Missense_Mutation_p.V153A|C21orf59_uc010glx.3_Missense_Mutation_p.V54A|C21orf59_uc002yqa.3_Missense_Mutation_p.V34A|C21orf59_uc002yqb.4_Missense_Mutation_p.V153A|C21orf59_uc011adr.2_Missense_Mutation_p.V97A	NM_021254	NP_067077	P57076	CU059_HUMAN	Homo sapiens chromosome 21 open reading frame 59 (C21orf59), transcript variant 1, mRNA.	153						cytosol|nucleus				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						CATGGGGTAAACAATCATCAC	0.502000														59			24		0	0	4.16121e-05	0	0
PTPN14	5784	broad.mit.edu	37	1	214557734	214557735	+	Missense_Mutation	DNP	CG	AT	AT	rs144475962		TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr1:214557734_214557735CG>AT	uc001hkk.2	-	12	2116_2117	c.1463_1464CG>AT	c.(1462-1464)ccg>cAT	p.P488H	PTPN14_uc021piy.1_Missense_Mutation_p.P252H|PTPN14_uc010pty.2_Missense_Mutation_p.P389H	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	488					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CCCGCATCTCCGGTTGGCTGTA	0.535000														430			12		0	0	6.4e-05	0	0
F2RL1	2150	broad.mit.edu	37	5	76128862	76128863	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr5:76128862_76128863GG>TT	uc003keo.3	+	1	605_606	c.430_431GG>TT	c.(430-432)ggg>TTg	p.G144L		NM_005242	NP_005233	P55085	PAR2_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA.	144					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CTGGATTTATGGGGAAGCTCTT	0.455000														564			14		0	0	6.4e-05	0	0
SLC39A9	55334	broad.mit.edu	37	14	69922518	69922518	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr14:69922518C>G	uc001xle.3	+	5	1330	c.628C>G	c.(628-630)Cac>Gac	p.H210D	SLC39A9_uc021rvg.1_Missense_Mutation_p.H92D|SLC39A9_uc021rvh.1_Missense_Mutation_p.H92D|SLC39A9_uc001xlf.4_Missense_Mutation_p.H210D|SLC39A9_uc010aqx.3_Missense_Mutation_p.H187D|SLC39A9_uc001xlg.4_Non-coding_Transcript	NM_018375	NP_060845	Q9NUM3	S39A9_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 9 (SLC39A9), transcript variant 1, mRNA.	210					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		AATCAGAAAGCACTTGCTGGT	0.428000														36			7		0	0	8.12818e-05	0	0
SKIV2L	6499	broad.mit.edu	37	6	31935527	31935528	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr6:31935527_31935528CC>AA	uc003nyn.1	+	21	3008_3009	c.2619_2620CC>AA	c.(2617-2622)accctg>acAAtg	p.L874M	SKIV2L_uc011dou.1_Missense_Mutation_p.L716M|SKIV2L_uc011dov.1_Missense_Mutation_p.L681M	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	874						nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TATTCACAACCCTGGTCTTGTG	0.579000														864			23		0	0	6.4e-05	0	0
PARP2	10038	broad.mit.edu	37	14	20813596	20813596	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr14:20813596C>G	uc001vxc.3	+	2	313	c.285C>G	c.(283-285)gaC>gaG	p.D95E	RPPH1_uc001vxa.1_5'Flank|PARP2_uc001vxb.1_Missense_Mutation_p.D95E|PARP2_uc001vxd.3_Missense_Mutation_p.D82E	NM_005484	NP_005475	Q9UGN5	PARP2_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 2 (PARP2), transcript variant 1, mRNA.	95					protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity	p.D46D(1)		central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		CTCCTGTGGACCCAGAGTGTA	0.463000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA						98			7		0	0	1.12685e-05	0	0
CEP41	95681	broad.mit.edu	37	7	130038854	130038855	+	Nonsense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr7:130038854_130038855CG>AT	uc003vpz.3	-	10	1046_1047	c.999_1000CG>AT	c.(997-1002)tccgga>tcATga	p.G334*	CEP41_uc003vpy.3_Nonsense_Mutation_p.G96*|CEP41_uc010lmf.3_Nonsense_Mutation_p.G131*|CEP41_uc003vqa.3_Nonsense_Mutation_p.G262*|CEP41_uc011kpg.2_Nonsense_Mutation_p.G246*	NM_018718	NP_061188	Q9BYV8	CEP41_HUMAN	Homo sapiens centrosomal protein 41kDa (CEP41), mRNA.	334					G2/M transition of mitotic cell cycle	centrosome|cytosol											GACTCTCTTCCGGAGGAGTTAG	0.574000														336			9		0	0	6.4e-05	0	0
GPRIN1	114787	broad.mit.edu	37	5	176026084	176026085	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr5:176026084_176026085GG>TT	uc003meo.1	-	1	926_927	c.751_752CC>AA	c.(751-753)cct>AAt	p.P251N	GPRIN1_uc021yif.1_Missense_Mutation_p.P251N	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 1 (GPRIN1), mRNA.	251						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGGAATACAGGGTCCACTTTG	0.490000														281			9		0	0	6.4e-05	0	0
LILRP2	79166	broad.mit.edu	37	19	55221850	55221850	+	RNA	SNP	G	A	A			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr19:55221850G>A	uc002qgs.1	+	0		c.2250G>A			LILRP2_uc002qgt.1_Intron					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		AGCTCAGAACGAGGTGGGGCA	0.637000														17			5		0	0	1.23904e-05	0	0
ING5	84289	broad.mit.edu	37	2	242650884	242650885	+	Nonsense_Mutation	DNP	CG	AT	AT	rs142180451	byFrequency	TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr2:242650884_242650885CG>AT	uc002wcd.3	+	3	394_395	c.369_370CG>AT	c.(367-372)tccgga>tcATga	p.G124*	ING5_uc021vzk.1_Nonsense_Mutation_p.G124*	NM_032329	NP_115705	Q8WYH8	ING5_HUMAN	Homo sapiens inhibitor of growth family, member 5 (ING5), mRNA.	124					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TTGAAAGCTCCGGAGGGCGAGG	0.391000														289			8		0	0	6.4e-05	0	0
NBEA	26960	broad.mit.edu	37	13	35517131	35517132	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr13:35517131_35517132GG>TT	uc021rid.1	+	0	708_709	c.174_175GG>TT	c.(172-177)gcgggg>gcTTgg	p.G59W	NBEA_uc021ric.1_Missense_Mutation_p.G59W	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	59						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGCTCCCCGCGGGGATGATTAA	0.663000														79			5		0	0	6.4e-05	0	0
USP5	8078	broad.mit.edu	37	12	6964613	6964614	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr12:6964613_6964614GG>TT	uc001qri.4	+	1	219_220	c.160_161GG>TT	c.(160-162)ggg>TTg	p.G54L	USP5_uc001qrh.4_Missense_Mutation_p.G54L	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	Homo sapiens ubiquitin specific peptidase 5 (isopeptidase T) (USP5), transcript variant 1, mRNA.	54					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						TCTGGGCTTTGGGAAACAGTAT	0.569000														327			10		0	0	6.4e-05	0	0
MEST	4232	broad.mit.edu	37	7	130137004	130137005	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr7:130137004_130137005GG>TT	uc003vqg.3	+	2	445_446	c.189_190GG>TT	c.(187-192)gtgggt>gtTTgt	p.G64C	MEST_uc003vqc.3_Missense_Mutation_p.G55C|MEST_uc003vqd.3_Missense_Mutation_p.G55C|MEST_uc022alp.1_Missense_Mutation_p.G55C|MEST_uc003vqf.3_Missense_Mutation_p.G55C|MEST_uc011kph.2_Missense_Mutation_p.G50C	NM_002402	NP_002393	Q5EB52	MEST_HUMAN	Homo sapiens mesoderm specific transcript homolog (mouse) (MEST), transcript variant 1, mRNA.	64					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					TAGACTCTGTGGGTGTGGTTGG	0.386000														565			11		0	0	6.4e-05	0	0
RILPL2	196383	broad.mit.edu	37	12	123900452	123900453	+	Missense_Mutation	DNP	CC	AA	AA	rs143775343		TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr12:123900452_123900453CC>AA	uc001uey.1	-	3	918_919	c.621_622GG>TT	c.(619-624)tcgggg>tcTTgg	p.G208W		NM_145058	NP_659495	Q969X0	RIPL2_HUMAN	Homo sapiens Rab interacting lysosomal protein-like 2 (RILPL2), mRNA.	208						cytosol|plasma membrane	identical protein binding			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		GTCTGTTTCCCCGATCGAAAAA	0.500000														415			12		0	0	6.4e-05	0	0
DGAT2	84649	broad.mit.edu	37	11	75480152	75480152	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr11:75480152G>A	uc001oxa.3	+	0	375	c.116G>A	c.(115-117)aGa>aAa	p.R39K	DGAT2_uc001oxb.3_Missense_Mutation_p.R39K|BC039351_uc001owz.3_5'Flank	NM_032564	NP_115953	Q96PD7	DGAT2_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2 (DGAT2), transcript variant 1, mRNA.	39					glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					GGGTCTGGGAGATGGGGTGAG	0.667000														280			42		0	0	0.000147903	0	0
ITCH	83737	broad.mit.edu	37	20	33057911	33057912	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr20:33057911_33057912CG>AT	uc010geu.1	+	15	1798_1799	c.1606_1607CG>AT	c.(1606-1608)cgg>ATg	p.R536M	ITCH_uc002xak.2_Missense_Mutation_p.R495M|ITCH_uc010zuj.1_Missense_Mutation_p.R385M	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	Homo sapiens itchy E3 ubiquitin protein ligase homolog (mouse) (ITCH), mRNA.	536					apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TCAGTATTTCCGGTTCTGGTGT	0.401000														221			7		0	0	6.4e-05	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40675	40675	+	Silent	SNP	G	A	A			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chrGL000218.1:40675G>A	uc011mfn.2	-	2	344	c.255C>T	c.(253-255)gaC>gaT	p.D85D	LOC100233156_uc003jah.2_Silent_p.D85D					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		TGTGCCGCACGTCCTCCAGTT	0.662000														14			6		0	0	3.59834e-05	0	0
TNXB	7148	broad.mit.edu	37	6	32036709	32036710	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr6:32036709_32036710CG>AT	uc003nzl.2	-	15	5993_5994	c.5791_5792CG>AT	c.(5791-5793)cgg>ATg	p.R1931M		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2013	Fibronectin type-III 11.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GATGTCATTCCGGTCACCTCCT	0.525000														834			16		0	0	6.4e-05	0	0
DOM3Z	1797	broad.mit.edu	37	6	31938818	31938819	+	Silent	DNP	GG	TT	TT			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr6:31938818_31938819GG>TT	uc003nyp.1	-	2	795_796	c.462_463CC>AA	c.(460-465)tcccgg>tcAAgg	p.154_155SR>SR	DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_3'UTR|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank|STK19_uc010jtn.1_5'Flank	NM_005510	NP_005501	O77932	DOM3Z_HUMAN	Homo sapiens dom-3 homolog Z (C. elegans) (DOM3Z), mRNA.	154							identical protein binding|metal ion binding|nucleotide binding	p.R155R(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						CCCTGGAACCGGGAGGCTGCCA	0.639000														879			18		0	0	6.4e-05	0	0
NBPF10	100132406	broad.mit.edu	37	1	144828688	144828688	+	Silent	SNP	C	T	T			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr1:144828688C>T	uc009wig.1	+	21	2921	c.2727C>T	c.(2725-2727)caC>caT	p.H909H	NBPF10_uc010oxo.1_Silent_p.H836H|NBPF10_uc010oxn.1_Silent_p.H809H|NBPF10_uc021oth.1_Silent_p.H571H|NBPF10_uc021otj.1_Silent_p.H938H|NBPF10_uc021oto.1_Silent_p.H726H|NBPF10_uc021otr.1_Silent_p.H238H|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Silent_p.H482H|NBPF10_uc010oyd.1_Silent_p.H238H|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	911								p.H578H(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAACAGCACATCAGCTTCG	0.433000														37			31		0	0	3.70037e-05	0	0
CELSR2	1952	broad.mit.edu	37	1	109813642	109813643	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr1:109813642_109813643CG>AT	uc001dxa.4	+	24	7638_7639	c.7577_7578CG>AT	c.(7576-7578)ccg>cAT	p.P2526H		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	2526					Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TTTGCTGGCCCGGTGGCCTTTG	0.644000														462			10		0	0	6.4e-05	0	0
APOM	55937	broad.mit.edu	37	6	31625024	31625025	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr6:31625024_31625025CG>AT	uc003nvl.3	+	2	365_366	c.292_293CG>AT	c.(292-294)cgg>ATg	p.R98M	APOM_uc003nvk.3_Missense_Mutation_p.R26M	NM_019101	NP_061974	O95445	APOM_HUMAN	Homo sapiens apolipoprotein M (APOM), transcript variant 1, mRNA.	98					cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport	discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	binding|lipid transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1)	7						CTGTGTGCCCCGGAAATGGATC	0.505000														443			14		0	0	6.4e-05	0	0
CNPPD1	27013	broad.mit.edu	37	2	220040313	220040314	+	Splice_Site	DNP	CG	AT	AT			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr2:220040313_220040314CG>AT	uc002vju.4	-	3	412	c.260_splice	c.e3+1	p.R87_splice	CNPPD1_uc002vjv.3_Splice_Site_p.R87_splice|FAM134A_uc010fwc.3_5'Flank|FAM134A_uc002vjw.4_5'Flank	NM_015680	NP_056495	Q9BV87	CNPD1_HUMAN	Homo sapiens cyclin Pas1/PHO80 domain containing 1 (CNPPD1), mRNA.	87					regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding	p.R87R(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						CCAGGCTCACCGGGACACATGA	0.465000														377			11		0	0	6.4e-05	0	0
PVRL2	5819	broad.mit.edu	37	19	45391619	45391620	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr19:45391619_45391620CG>AT	uc002ozw.1	+	8	1990_1991	c.1600_1601CG>AT	c.(1600-1602)cgg>ATg	p.R534M	TOMM40_uc002ozz.3_5'Flank|TOMM40_uc002paa.4_5'Flank|TOMM40_uc002ozx.4_5'Flank|TOMM40_uc002ozy.4_5'Flank	NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	Homo sapiens poliovirus receptor-related 2 (herpesvirus entry mediator B) (PVRL2), transcript variant delta, mRNA.	534					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to T cell mediated cytotoxicity|susceptibility to natural killer cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TGTCATGTCCCGGGCCATGTAT	0.545000														508			12		0	0	6.4e-05	0	0
GPSM3	63940	broad.mit.edu	37	6	32159488	32159488	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr6:32159488G>T	uc003oay.4	-	2	745	c.343C>A	c.(343-345)Cag>Aag	p.Q115K	PBX2_uc003oav.1_5'Flank|PBX2_uc003oaw.3_5'Flank|GPSM3_uc003oaz.3_Missense_Mutation_p.Q115K	NM_022107	NP_071390	Q9Y4H4	GPSM3_HUMAN	Homo sapiens G-protein signaling modulator 3 (GPSM3), mRNA.	115	GoLoco 2.				signal transduction	cytoplasm	GTPase activator activity|protein binding			large_intestine(1)	1						TGTCTTACCTGGTGACTGAGG	0.597000														433			16		3.52763e-06	0.000458308	5.01169e-05	1	0
SKIV2L	6499	broad.mit.edu	37	6	31928102	31928103	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr6:31928102_31928103GG>TT	uc003nyn.1	+	3	731_732	c.342_343GG>TT	c.(340-345)ctgggt>ctTTgt	p.G115C	RDBP_uc003nyk.3_5'Flank|RDBP_uc011dot.2_5'Flank|RDBP_uc021yvb.1_5'Flank|SKIV2L_uc011dou.1_Intron|SKIV2L_uc011dov.1_Intron	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	115						nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GCCAGATACTGGGTTACAAAGA	0.574000														686			17		0	0	6.4e-05	0	0
BCL11A	53335	broad.mit.edu	37	2	60687604	60687605	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr2:60687604_60687605GG>TT	uc002sae.1	-	3	2670_2671	c.2442_2443CC>AA	c.(2440-2445)accctg>acAAtg	p.L815M	BCL11A_uc002sab.3_Intron|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Intron|BCL11A_uc002sad.1_Missense_Mutation_p.L663M|BCL11A_uc002saf.1_Missense_Mutation_p.L781M	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	815					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGTTTCTCCAGGGTACTGTACA	0.426000			T	IGH@	B-CLL									839			17		0	0	6.4e-05	0	0
NEU1	4758	broad.mit.edu	37	6	31829093	31829094	+	Missense_Mutation	DNP	CG	AT	AT	rs115588976	byFrequency	TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr6:31829093_31829094CG>AT	uc003nxq.4	-	2	642_643	c.486_487CG>AT	c.(484-489)gccggc>gcATgc	p.G163C		NM_000434	NP_000425	Q99519	NEUR1_HUMAN	Homo sapiens sialidase 1 (lysosomal sialidase) (NEU1), mRNA.	163						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	ACCTGGCAGCCGGCCTTGTGAG	0.530000														597			17		0	0	6.4e-05	0	0
ADAM30	11085	broad.mit.edu	37	1	120438704	120438705	+	Silent	DNP	GG	TT	TT			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr1:120438704_120438705GG>TT	uc001eij.3	-	0	443_444	c.255_256CC>AA	c.(253-258)ccccga>ccAAga	p.85_86PR>PR		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	85					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CGCAGATGTCGGGGCAACAGAA	0.535000														826			23		0	0	6.4e-05	0	0
abParts	0	broad.mit.edu	37	14	106237769	106237769	+	RNA	SNP	T	C	C	rs115544543	by1000genomes	TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr14:106237769T>C	uc001ysh.1	-	0		c.1345A>G			abParts_uc021ser.1_Splice_Site|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron|IGHG1_uc001yse.3_Intron|abParts_uc001ysi.1_Non-coding_Transcript					Homo sapiens mRNA for FLJ00385 protein.																		GCCATGTGACTGCGGTGTGGG	0.672000														63			8		0	0	6.40141e-05	0	0
CYP4F8	11283	broad.mit.edu	37	19	15739340	15739341	+	Splice_Site	DNP	GG	TT	TT			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr19:15739340_15739341GG>TT	uc002nbi.3	+	12	1311	c.1247_splice	c.e12-1	p.G416_splice	CYP4F8_uc010xoj.2_Splice_Site_p.G229_splice	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	417					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CTGCACGACAGGGAATGTCTGT	0.614000														315			15		0	0	6.4e-05	0	0
ZC2HC1A	51101	broad.mit.edu	37	8	79598774	79598775	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr8:79598774_79598775delAA	uc003ybd.3	+	3	385_386	c.283_284delAA	c.(283-285)aaafs	p.K95fs		NM_016010	NP_057094	Q96GY0	F164A_HUMAN	Homo sapiens family with sequence similarity 164, member A (FAM164A), mRNA.	95																	AAGAGCAGCTAAAGGCCTTGAT	0.376													---	4	---	---	2	---					
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	-	-	rs56192595		TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	uc002bon.3	+	0	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gaggggcaggggcaagggcaggggcag>gag	p.GQGQGQGQ195del	MESP2_uc010uqa.2_Intron	NM_001039958	NP_001035047	Q0VG99	MESP2_HUMAN	Homo sapiens mesoderm posterior 2 homolog (mouse) (MESP2), mRNA.	195	13 X 2 AA tandem repeats of G-Q.				Notch signaling pathway	nucleus	DNA binding	p.Q198_G205delQGQGQGQG(2)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777													---	8	---	---	5	---					
CHERP	10523	broad.mit.edu	37	19	16640581	16640583	+	In_Frame_Del	DEL	TGC	-	-			TCGA-D3-A2JB-06A-11D-A196-08	TCGA-D3-A2JB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d485de5-b864-412e-9632-01486f9c3f71	a3e70dee-f653-4d31-94ca-12ec9def742e	g.chr19:16640581_16640583delTGC	uc002nei.1	-	7	1079_1081	c.1005_1007delGCA	c.(1003-1008)cagcaa>caa	p.335_336QQ>Q	MED26_uc002nee.2_Intron	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	Homo sapiens calcium homeostasis endoplasmic reticulum protein (CHERP), mRNA.	335	Gln-rich.				RNA processing|cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	p.Q336Q(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						ctgctgctgttgctgctgctgct	0.670													---	93	---	---	7	---