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
POU5F2	134187	broad.mit.edu	37	5	93076393	93076393	+	Missense_Mutation	SNP	G	C	C			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr5:93076393G>C	uc003kkl.1	-	0	917	c.877C>G	c.(877-879)Cac>Gac	p.H293D	FAM172A_uc010jbd.3_Intron|FAM172A_uc011cuf.2_Intron|FAM172A_uc011cug.2_Intron|FAM172A_uc011cuh.2_Intron|FAM172A_uc011cui.2_Intron|FAM172A_uc011cuj.2_Intron	NM_153216	NP_694948	Q8N7G0	PO5F2_HUMAN	Homo sapiens POU domain class 5, transcription factor 2 (POU5F2), mRNA.	293						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		AGTCCCAGGTGAAAGCACACT	0.617000														58			32		0	0	1	0	0
FFAR1	2864	broad.mit.edu	37	19	35842701	35842701	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr19:35842701G>A	uc002nzc.2	+	0	257	c.247G>A	c.(247-249)Gcg>Acg	p.A83T		NM_005303	NP_005294	O14842	FFAR1_HUMAN	Homo sapiens free fatty acid receptor 1 (FFAR1), mRNA.	83					energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	CCCCGTCTTCGCGGTGGCCCA	0.701000														1			2		0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43507026	43507026	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr2:43507026T>C	uc002rsw.4	-	35	5526	c.5174A>G	c.(5173-5175)gAt>gGt	p.D1725G	THADA_uc010far.3_Missense_Mutation_p.D920G|THADA_uc002rsx.4_Missense_Mutation_p.D1725G|THADA_uc002rsy.4_Non-coding_Transcript	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	1725							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AGCAAGTGTATCCTGCAACTC	0.473000														15			3		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157931202	157931202	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr7:157931202G>A	uc003wno.3	-	6	1037	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W	PTPRN2_uc003wnp.3_Missense_Mutation_p.R289W|PTPRN2_uc003wnq.3_Missense_Mutation_p.R306W|PTPRN2_uc003wnr.3_Missense_Mutation_p.R268W|PTPRN2_uc011kwa.2_Missense_Mutation_p.R329W	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	306						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GTATGAATCCGTGCTCCTAGG	0.632000														22			13		0	0	1	0	0
LMAN1	3998	broad.mit.edu	37	18	57022610	57022610	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr18:57022610A>G	uc002lhz.3	-	2	444	c.412T>C	c.(412-414)Ttt>Ctt	p.F138L	LMAN1_uc010xek.1_Missense_Mutation_p.F138L	NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	138	L-type lectin-like.				ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	GCTGATCCAAACACAGGGCCC	0.368000														100			4		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152350685	152350685	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr2:152350685T>C	uc021vrb.1	-	139	19030	c.19001A>G	c.(19000-19002)aAc>aGc	p.N6334S	NEB_uc002txr.3_Missense_Mutation_p.N2769S|NEB_uc002txu.3_Missense_Mutation_p.N8190S|NEB_uc021vrc.1_Missense_Mutation_p.N8190S|NEB_uc010fnx.3_Missense_Mutation_p.N6322S|NEB_uc021vrd.1_Missense_Mutation_p.N6334S|RIF1_uc002txp.3_Intron|NEB_uc010zbz.2_Missense_Mutation_p.N134S|NEB_uc002txq.3_Missense_Mutation_p.N213S|NEB_uc010zca.2_Missense_Mutation_p.N165S|NEB_uc010zcb.2_Missense_Mutation_p.N134S	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	6334					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CGAGCTAATGTTTTCTTGATT	0.428000														68			4		0	0	1	0	0
LIMA1	51474	broad.mit.edu	37	12	50575718	50575718	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr12:50575718A>G	uc001rwj.4	-	9	1417	c.1243T>C	c.(1243-1245)Ttc>Ctc	p.F415L	LIMA1_uc001rwg.4_Missense_Mutation_p.F113L|LIMA1_uc001rwh.4_Missense_Mutation_p.F254L|LIMA1_uc001rwi.4_Missense_Mutation_p.F256L|LIMA1_uc001rwk.4_Missense_Mutation_p.F416L|LIMA1_uc010sms.2_Non-coding_Transcript|LIMA1_uc010smr.2_Non-coding_Transcript	NM_016357	NP_001230704	Q9UHB6	LIMA1_HUMAN	Homo sapiens LIM domain and actin binding 1 (LIMA1), transcript variant 2, mRNA.	415	LIM zinc-binding.			F -> L (in Ref. 7; AAG17267).	actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GAGCAACGGAAGCAGCTGATG	0.488000														89			4		0	0	1	0	0
VEPH1	79674	broad.mit.edu	37	3	157082297	157082297	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr3:157082297T>C	uc003fbj.2	-	7	1551	c.1132A>G	c.(1132-1134)Aaa>Gaa	p.K378E	VEPH1_uc003fbk.2_Missense_Mutation_p.K378E|VEPH1_uc010hvu.2_Missense_Mutation_p.K378E	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Homo sapiens ventricular zone expressed PH domain homolog 1 (zebrafish) (VEPH1), transcript variant 1, mRNA.	378						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GTGCTGATTTTTCTCCTAAAG	0.353000														163			4		0	0	1	0	0
NMRK1	54981	broad.mit.edu	37	9	77681741	77681741	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr9:77681741G>T	uc004ajr.4	-	7	757	c.512C>A	c.(511-513)aCa>aAa	p.T171K	NMRK1_uc004ajs.4_Missense_Mutation_p.T175K|NMRK1_uc004ajt.4_Missense_Mutation_p.T147K	NM_017881	NP_060351	Q9NWW6	NRK1_HUMAN	Homo sapiens chromosome 9 open reading frame 95 (C9orf95), transcript variant 1, mRNA.	171					pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|ribosylnicotinamide kinase activity										TTCAGATTTTGTTCCATCCAG	0.363000														54			32		1.36615e-20	1.48494e-20	1	1	0
MUC5B	727897	broad.mit.edu	37	11	1270385	1270385	+	Missense_Mutation	SNP	C	G	G			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr11:1270385C>G	uc001lta.3	+	30	12334	c.12275C>G	c.(12274-12276)gCc>gGc	p.A4092G		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4092	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACACCACGGCCACCTCCAGG	0.701000														20			6		0	0	1	0	0
CXorf59	286464	broad.mit.edu	37	X	36117961	36117961	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chrX:36117961C>T	uc004ddk.1	+	6	1003	c.817C>T	c.(817-819)Cgg>Tgg	p.R273W		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	273						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						CTGGAGTAAACGGGCATGGAC	0.333000														81			57		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88727494	88727494	+	Silent	SNP	G	A	A			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr15:88727494G>A	uc002bme.2	-	3	591	c.285C>T	c.(283-285)aaC>aaT	p.N95N	NTRK3_uc002bmh.2_Silent_p.N95N|NTRK3_uc002bmf.2_Silent_p.N95N|NTRK3_uc021sua.1_Silent_p.N95N|NTRK3_uc010upl.1_5'UTR|NTRK3_uc010bnh.1_Silent_p.N95N|NTRK3_uc002bmg.3_Silent_p.N95N	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	95					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.N95S(1)	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)			TGTCCACGGCGTTGAGCGTGT	0.577000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				16			22		0	0	1	0	0
ALKBH2	121642	broad.mit.edu	37	12	109526037	109526037	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr12:109526037G>A	uc001tnx.2	-	3	1153	c.760C>T	c.(760-762)Cgt>Tgt	p.R254C	ALKBH2_uc001tny.2_Missense_Mutation_p.R254C|ALKBH2_uc010sxj.1_Missense_Mutation_p.R254C|ALKBH2_uc009zvd.2_3'UTR|ALKBH2_uc010sxk.1_3'UTR	NM_001145374	NP_001138847	Q6NS38	ALKB2_HUMAN	Homo sapiens alkB, alkylation repair homolog 2 (E. coli) (ALKBH2), transcript variant 1, mRNA.	254	Alpha-ketoglutarate binding.|Fe2OG dioxygenase.				DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	DNA-N1-methyladenine dioxygenase activity|cytosine C-5 DNA demethylase activity|damaged DNA binding|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	AAAATTTTACGAAAAGTCAGA	0.428000								Direct reversal of damage						11			4		0	0	1	0	0
RC3H1	149041	broad.mit.edu	37	1	173912597	173912597	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr1:173912597T>C	uc010pmt.2	-	16	3205	c.3118A>G	c.(3118-3120)Aca>Gca	p.T1040A	RC3H1_uc001gju.4_Missense_Mutation_p.T1040A|RC3H1_uc010pms.2_Missense_Mutation_p.T1031A|RC3H1_uc001gjv.3_Missense_Mutation_p.T1031A	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	Homo sapiens ring finger and CCCH-type domains 1 (RC3H1), mRNA.	1040					cytoplasmic mRNA processing body assembly|negative regulation of B cell proliferation|negative regulation of T-helper cell differentiation|negative regulation of activated T cell proliferation|negative regulation of germinal center formation|nuclear-transcribed mRNA catabolic process|regulation of T cell receptor signaling pathway|regulation of mRNA stability	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						AGTTCCCGTGTTCTCTTCCCG	0.498000														90			4		0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89711966	89711966	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr10:89711966T>C	uc001kfb.3	+	5	1616	c.584T>C	c.(583-585)tTt>tCt	p.F195S	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	195	C2 tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GCACTGTTGTTTCACAAGATG	0.398000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				3			19		0	0	1	0	0
SMYD1	150572	broad.mit.edu	37	2	88387571	88387571	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr2:88387571T>C	uc002ssr.3	+	2	590	c.505T>C	c.(505-507)Tac>Cac	p.Y169H	SMYD1_uc002ssq.2_Intron|SMYD1_uc002sss.3_5'Flank	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA.	169	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CAGCATGCAGTACATCTCGCA	0.612000														58			3		0	0	1	0	0
SOCS7	30837	broad.mit.edu	37	17	36520640	36520640	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr17:36520640A>G	uc002hqa.3	+	2	980	c.859A>G	c.(859-861)Act>Gct	p.T287A	SOCS7_uc010cvl.3_Missense_Mutation_p.T287A|SOCS7_uc002hqb.3_Non-coding_Transcript	NM_014598	NP_055413	O14512	SOCS7_HUMAN	Homo sapiens suppressor of cytokine signaling 7 (SOCS7), mRNA.	287	Mediates interaction with SORBS3.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	SH3 domain binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					CTCAGGTGAAACTGTGTCGCT	0.572000														31			3		0	0	1	0	0
OR2T8	343172	broad.mit.edu	37	1	248084369	248084369	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr1:248084369A>G	uc010pzc.2	+	0	50	c.50A>G	c.(49-51)aAc>aGc	p.N17S		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 8 (OR2T8), mRNA.	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	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)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGACTCTTTAACCACACCAGA	0.428000														142			4		0	0	1	0	0
VILL	50853	broad.mit.edu	37	3	38040855	38040855	+	Silent	SNP	C	T	T			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr3:38040855C>T	uc003chj.3	+	10	1393	c.1107C>T	c.(1105-1107)gaC>gaT	p.D369D	VILL_uc003chl.3_Silent_p.D369D|VILL_uc010hgu.3_Silent_p.D199D	NM_015873	NP_056957	O15195	VILL_HUMAN	Homo sapiens villin-like (VILL), mRNA.	369					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TAAAGCTGGACGTGGGCAAGC	0.627000														45			3		0	0	1	0	0
ZC4H2	55906	broad.mit.edu	37	X	64137684	64137684	+	Silent	SNP	C	T	T	rs149235340	byFrequency	TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chrX:64137684C>T	uc004dvu.3	-	4	810	c.654G>A	c.(652-654)ccG>ccA	p.P218P	ZC4H2_uc004dvv.3_Silent_p.P195P|ZC4H2_uc022byd.1_Silent_p.P195P|ZC4H2_uc022byc.1_Silent_p.P195P|ZC4H2_uc011mow.2_Missense_Mutation_p.R164Q|ZC4H2_uc011mov.2_Silent_p.P195P|ZC4H2_uc004dvw.2_3'UTR	NM_018684	NP_001230733	Q9NQZ6	ZC4H2_HUMAN	Homo sapiens zinc finger, C4H2 domain containing (ZC4H2), transcript variant 1, mRNA.	218							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GCTTCCGTTTCGGCTTTTTGG	0.488000														173			6		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19480349	19480349	+	Missense_Mutation	SNP	C	A	A			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr1:19480349C>A	uc001bbi.3	-	44	6547	c.6543G>T	c.(6541-6543)caG>caT	p.Q2181H	UBR4_uc001bbk.1_5'Flank|UBR4_uc001bbl.1_Missense_Mutation_p.Q118H|UBR4_uc001bbm.1_Missense_Mutation_p.Q1393H	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	2181					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTGTAGTTTGCTGGACACAGC	0.498000														69			11		1.08611e-07	1.13136e-07	1	1	0
ZNF469	84627	broad.mit.edu	37	16	88499219	88499219	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr16:88499219G>A	uc002fku.2	+	1	5257	c.5257G>A	c.(5257-5259)Ggc>Agc	p.G1753S		NM_001127464	NP_001120936	Q96JG9	ZN469_HUMAN	Homo sapiens zinc finger protein 469 (ZNF469), mRNA.	1753					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						CCCAGAGCCCGGCACAGCAGA	0.607000														18			14		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13476272	13476272	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr19:13476272C>T	uc002mwy.3	-	4	879	c.643G>A	c.(643-645)Gtc>Atc	p.V215I	CACNA1A_uc010xnd.2_Missense_Mutation_p.V215I|CACNA1A_uc021ups.1_Missense_Mutation_p.V215I|CACNA1A_uc010xne.2_Missense_Mutation_p.V215I|CACNA1A_uc010dze.2_Missense_Mutation_p.V215I|CACNA1A_uc021upt.1_Missense_Mutation_p.V215I	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	215					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GACTTCAGGACGACTTGTAAA	0.502000														53			5		0	0	1	0	0
GPR27	2850	broad.mit.edu	37	3	71804279	71804279	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr3:71804279G>A	uc011bge.2	+	0	1079	c.1079G>A	c.(1078-1080)cGg>cAg	p.R360Q	EIF4E3_uc003dox.3_5'Flank|EIF4E3_uc011bgd.2_5'Flank|EIF4E3_uc010hoc.3_5'Flank	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN	Homo sapiens G protein-coupled receptor 27 (GPR27), mRNA.	360						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		CAGAGCCCCCGGACCACCCAG	0.642000														5			5		0	0	1	0	0
FAM153B	202134	broad.mit.edu	37	5	175530235	175530235	+	Missense_Mutation	SNP	A	C	C			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr5:175530235A>C	uc003mdk.3	+	12	727	c.670A>C	c.(670-672)Atc>Ctc	p.I224L	FAM153B_uc021yic.1_Intron	NM_001079529	NP_001072997	P0C7A2	F153B_HUMAN	Homo sapiens family with sequence similarity 153, member B (FAM153B), mRNA.	224										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		CCTAGTTCTGATCAGGGATGT	0.507000														763			15		0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22256335	22256335	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr19:22256335G>A	uc010ecx.3	+	2	364	c.195G>A	c.(193-195)atG>atA	p.M65I	ZNF257_uc010ecy.3_Missense_Mutation_p.M33I	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	65	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCTGTAATATGAAGAGACATG	0.448000														35			3		0	0	1	0	0
CCDC74A	90557	broad.mit.edu	37	2	132290278	132290278	+	Missense_Mutation	SNP	G	A	A	rs138310081	byFrequency	TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr2:132290278G>A	uc002tta.3	+	4	852	c.800G>A	c.(799-801)cGa>cAa	p.R267Q	CCDC74A_uc002ttb.3_Missense_Mutation_p.R201Q|CCDC74A_uc021vpq.1_Intron|CCDC74A_uc021vpr.1_Intron	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA.	267										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CTTCCCCTGCGAAAGCCCACC	0.642000														91			7		0	0	1	0	0
SFI1	9814	broad.mit.edu	37	22	32000342	32000342	+	Silent	SNP	C	T	T			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr22:32000342C>T	uc003ale.3	+	18	2322	c.1929C>T	c.(1927-1929)gaC>gaT	p.D643D	SFI1_uc003ald.1_Silent_p.D619D|SFI1_uc003alf.3_Silent_p.D612D|SFI1_uc003alg.3_Silent_p.D561D|SFI1_uc011alp.2_Silent_p.D561D|SFI1_uc011alq.2_Silent_p.D588D|SFI1_uc003alh.3_Non-coding_Transcript|SFI1_uc010gwi.3_Intron	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.	643	Interaction with CETN2.				G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TGCGAGCAGACCTGCACCACC	0.647000											OREG0003526	type=REGULATORY REGION|Gene=SFI1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		31			4		0	0	1	0	0
CCDC74A	90557	broad.mit.edu	37	2	132290352	132290352	+	Missense_Mutation	SNP	G	C	C			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr2:132290352G>C	uc002tta.3	+	4	926	c.874G>C	c.(874-876)Gag>Cag	p.E292Q	CCDC74A_uc002ttb.3_Missense_Mutation_p.E226Q|CCDC74A_uc021vpq.1_Intron|CCDC74A_uc021vpr.1_Missense_Mutation_p.E289Q	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA.	292										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GCAGACCCAAGAGGTGAGGCC	0.652000														63			8		0	0	1	0	0
MED17	9440	broad.mit.edu	37	11	93517753	93517753	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr11:93517753A>G	uc001pem.4	+	0	349	c.74A>G	c.(73-75)gAt>gGt	p.D25G	MED17_uc001pel.2_Missense_Mutation_p.D25G	NM_004268	NP_004259	Q9NVC6	MED17_HUMAN	Homo sapiens mediator complex subunit 17 (MED17), mRNA.	25					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GTGGGCCTGGATGGCACCGAG	0.672000														15			10		0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41002593	41002593	+	Missense_Mutation	SNP	T	G	G			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chrX:41002593T>G	uc004dfb.3	+	9	1844	c.1211T>G	c.(1210-1212)cTt>cGt	p.L404R	USP9X_uc004dfc.3_Missense_Mutation_p.L404R	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	404					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CGAGATAGTCTTCATCAGCCA	0.338000														163			65		0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1084344	1084344	+	Splice_Site	SNP	A	G	G			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr19:1084344A>G	uc002lqz.1	+	22	3295	c.3064_splice	c.e22+1	p.E1022_splice	HMHA1_uc010xgd.1_Splice_Site_p.E1038_splice|HMHA1_uc010xge.1_Splice_Site_p.E890_splice|HMHA1_uc002lra.1_Splice_Site_p.E862_splice|HMHA1_uc002lrb.1_Splice_Site_p.E905_splice|HMHA1_uc002lrc.1_Splice_Site_p.E657_splice	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	1022					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGGGTGCAGAGGTGAGTGTG	0.682000														7			6		0	0	1	0	0
PATZ1	23598	broad.mit.edu	37	22	31741114	31741114	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr22:31741114A>G	uc003akq.3	-	0	1136	c.475T>C	c.(475-477)Tcc>Ccc	p.S159P	PATZ1_uc003akp.3_Missense_Mutation_p.S159P|PATZ1_uc003akr.3_Missense_Mutation_p.S159P|PATZ1_uc003aks.3_Missense_Mutation_p.S159P|Em:AC005003.4_uc003akt.3_5'Flank	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	Homo sapiens POZ (BTB) and AT hook containing zinc finger 1 (PATZ1), transcript variant 1, mRNA.	159					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						TGTACGTTGGACTGTTTGATG	0.577000														109			5		0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134664800	134664800	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr10:134664800C>T	uc021qbc.1	-	39	5685	c.5584G>A	c.(5584-5586)Gtc>Atc	p.V1862I		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	23										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GGCGTGTTGACGTTCTGCAAC	0.577000														13			3		0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138823233	138823233	+	Missense_Mutation	SNP	G	C	C			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chrX:138823233G>C	uc004faz.3	-	26	3159	c.3060C>G	c.(3058-3060)ttC>ttG	p.F1020L	ATP11C_uc004fax.3_Missense_Mutation_p.F228L|ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Missense_Mutation_p.F1020L	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	1020					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TCCACGTCCAGAATCGGGTAT	0.388000														187			4		0	0	1	0	0
LOC150776	150776	broad.mit.edu	37	2	132273252	132273252	+	Silent	SNP	C	T	T			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr2:132273252C>T	uc010fna.3	+	2	478	c.138C>T	c.(136-138)agC>agT	p.S46S	LOC150776_uc010zax.1_Non-coding_Transcript|LOC150776_uc010zay.1_Non-coding_Transcript|LOC150776_uc010zaz.1_Non-coding_Transcript|LOC150776_uc002tsy.3_Non-coding_Transcript					Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane pseudogene (LOC150776), non-coding RNA.																		TTGCCAACAGCCTGAAGCCAG	0.652000														11			50		0	0	1	0	0
KRT20	54474	broad.mit.edu	37	17	39041356	39041356	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr17:39041356G>A	uc002hvl.3	-	0	140	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C		NM_019010	NP_061883	P35900	K1C20_HUMAN	Homo sapiens keratin 20 (KRT20), mRNA.	28	Head.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				GTCCCGAGGCGCTGCATGCCC	0.597000														2			12		0	0	1	0	0
AADAT	51166	broad.mit.edu	37	4	171009684	171009684	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr4:171009684C>T	uc003isr.3	-	1	441	c.99G>A	c.(97-99)atG>atA	p.M33I	AADAT_uc003iss.3_Missense_Mutation_p.M33I|AADAT_uc003ist.3_Missense_Mutation_p.M37I	NM_016228	NP_872603	Q8N5Z0	AADAT_HUMAN	Homo sapiens aminoadipate aminotransferase (AADAT), transcript variant 1, mRNA.	33					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CCAAGGAGATCATCGATTTTG	0.388000														112			4		0	0	1	0	0
FAM35B2	439965	broad.mit.edu	37	10	47379799	47379799	+	RNA	SNP	G	A	A			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr10:47379799G>A	uc010qfz.2	+	0		c.80G>A								Homo sapiens family with sequence similarity 35, member B2 (pseudogene) (FAM35B2), non-coding RNA.																		AGTATCAGAAGACACAGCTTC	0.363000														96			10		0	0	1	0	0
GAL3ST2	64090	broad.mit.edu	37	2	242741375	242741375	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr2:242741375C>T	uc002wcj.1	+	2	430	c.299C>T	c.(298-300)gCg>gTg	p.A100V		NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 2 (GAL3ST2), mRNA.	100					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		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;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CTCTTCCTGGCGCGCTACGTG	0.662000														13			3		0	0	1	0	0
ASIC3	9311	broad.mit.edu	37	7	150746017	150746017	+	Silent	SNP	G	A	A			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr7:150746017G>A	uc003wio.2	+	0	413	c.45G>A	c.(43-45)tcG>tcA	p.S15S	ASIC3_uc003win.2_Silent_p.S15S|ASIC3_uc003wip.2_Silent_p.S15S|ASIC3_uc003wiq.2_Non-coding_Transcript	NM_020321	NP_064717	Q9UHC3	ACCN3_HUMAN	Homo sapiens amiloride-sensitive cation channel 3 (ACCN3), transcript variant 2, mRNA.	15					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										GGCCAGCCTCGGACATCCGCG	0.687000														14			3		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28447318	28447318	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr15:28447318A>G	uc001zbj.3	-	46	7664	c.7558T>C	c.(7558-7560)Tcc>Ccc	p.S2520P	HERC2_uc001zbk.1_Missense_Mutation_p.S55P	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	2520					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TACTCGTCGGACACCGTGTCT	0.612000														89			5		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19480348	19480348	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr1:19480348G>T	uc001bbi.3	-	44	6548	c.6544C>A	c.(6544-6546)Caa>Aaa	p.Q2182K	UBR4_uc001bbk.1_5'Flank|UBR4_uc001bbl.1_Missense_Mutation_p.Q119K|UBR4_uc001bbm.1_Missense_Mutation_p.Q1394K	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	2182					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCTGTAGTTTGCTGGACACAG	0.493000														69			11		6.40141e-05	6.40141e-05	1	1	0
NOXA1	10811	broad.mit.edu	37	9	140327707	140327707	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr9:140327707G>A	uc004cmu.3	+	9	1036	c.901G>A	c.(901-903)Ggt>Agt	p.G301S	NOXA1_uc004cmv.3_Missense_Mutation_p.G301S|NOXA1_uc010nch.3_Missense_Mutation_p.G245S	NM_006647	NP_006638	Q86UR1	NOXA1_HUMAN	Homo sapiens NADPH oxidase activator 1 (NOXA1), transcript variant 1, mRNA.	301			Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).		regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	NADPH oxidase complex|cytoplasm	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity	p.G301C(2)		cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		GGACCCCGCGGGTGCTGGGGT	0.652000														4			11		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16967262	16967262	+	Silent	SNP	G	A	A			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr10:16967262G>A	uc001ioo.3	-	42	6676	c.6624C>T	c.(6622-6624)atC>atT	p.I2208I		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	2208	CUB 15.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTCATATTTGATTTTAAATC	0.328000														75			12		0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26910630	26910630	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr17:26910630G>T	uc002hbq.3	-	14	2676	c.2584C>A	c.(2584-2586)Caa>Aaa	p.Q862K	SPAG5_uc010waq.1_Missense_Mutation_p.Q267K	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	Homo sapiens sperm associated antigen 5 (SPAG5), mRNA.	862					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TCCAGATCTTGCTCCTGGTTA	0.463000														75			4		1.23904e-05	1.26433e-05	1	1	0
PHRF1	57661	broad.mit.edu	37	11	605169	605169	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr11:605169G>T	uc001lqe.3	+	10	1334	c.1203G>T	c.(1201-1203)agG>agT	p.R401S	PHRF1_uc010qwc.2_Missense_Mutation_p.R401S|PHRF1_uc010qwd.2_Missense_Mutation_p.R400S|PHRF1_uc010qwe.2_Missense_Mutation_p.R397S|PHRF1_uc009ybz.1_Missense_Mutation_p.R192S|PHRF1_uc009yca.2_5'Flank	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	401	Arg-rich.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCCTGCGCAGGCCTGTTCACA	0.567000														25			23		1.42536e-11	1.51634e-11	1	1	0
MAPK7	5598	broad.mit.edu	37	17	19284374	19284374	+	Silent	SNP	C	T	T	rs145605078		TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr17:19284374C>T	uc002gvn.3	+	3	1238	c.852C>T	c.(850-852)gcC>gcT	p.A284A	B9D1_uc010cqm.1_5'Flank|MAPK7_uc002gvo.3_Silent_p.A145A|MAPK7_uc002gvq.3_Silent_p.A284A|MAPK7_uc002gvp.3_Silent_p.A284A	NM_139033	NP_620601	Q13164	MK07_HUMAN	Homo sapiens mitogen-activated protein kinase 7 (MAPK7), transcript variant 1, mRNA.	284	Necessary for oligomerization (By similarity).|Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cell cycle|cell differentiation|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CATCACCAGCCGTGATTCAGG	0.607000														3			29		0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78082576	78082576	+	Silent	SNP	G	A	A			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr17:78082576G>A	uc002jxp.3	+	7	1642	c.1275G>A	c.(1273-1275)ccG>ccA	p.P425P	GAA_uc002jxo.3_Silent_p.P425P|GAA_uc002jxq.3_Silent_p.P425P	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	425					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GGGACTTCCCGGCCATGGTGC	0.647000														23			3		0	0	1	0	0
MESDC1	59274	broad.mit.edu	37	15	81295653	81295653	+	Silent	SNP	G	A	A			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr15:81295653G>A	uc002bfz.3	+	0	2359	c.1041G>A	c.(1039-1041)agG>agA	p.R347R		NM_022566	NP_072088	Q9H1K6	MESD1_HUMAN	Homo sapiens mesoderm development candidate 1 (MESDC1), mRNA.	347										endometrium(1)|lung(2)	3						TAAGGGAGAGGTCTTCGCCCA	0.567000														31			12		0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36558850	36558851	+	Frame_Shift_Ins	INS	-	AC	AC			TCGA-KL-8323-01A-21D-2310-10	TCGA-KL-8323-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fae88d21-171c-4df4-b258-3c5948a1034b	f5c7fb67-5906-4db0-ad0d-129df8e065cb	g.chr19:36558850_36558851insAC	uc002odd.2	+	6	911_912	c.820_821insAC	c.(820-822)tacfs	p.Y274fs	WDR62_uc002odc.2_Frame_Shift_Ins_p.Y274fs|WDR62_uc002odb.2_Frame_Shift_Ins_p.Y274fs	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	274					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTGTGTGTCCTACTCGGGCCTC	0.599													---	68	---	---	54	---					
