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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
NFATC4	4776	broad.mit.edu	37	14	24845892	24845892	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:24845892C>T	ENST00000413692.2	+	10	2782	c.2638C>T	c.(2638-2640)Cct>Tct	p.P880S	NFATC4_ENST00000555802.1_Missense_Mutation_p.P105S|NFATC4_ENST00000554344.1_Missense_Mutation_p.P747S|NFATC4_ENST00000553879.1_Missense_Mutation_p.P747S|NFATC4_ENST00000554661.1_Intron|NFATC4_ENST00000555167.1_Missense_Mutation_p.P352S|NFATC4_ENST00000554966.1_Intron|NFATC4_ENST00000556279.1_Missense_Mutation_p.P849S|NFATC4_ENST00000555590.1_Missense_Mutation_p.P830S|NFATC4_ENST00000555393.1_Missense_Mutation_p.P105S|NFATC4_ENST00000554050.1_Intron|NFATC4_ENST00000553469.1_Intron|NFATC4_ENST00000555453.1_Missense_Mutation_p.P805S|NFATC4_ENST00000539237.2_Missense_Mutation_p.P849S|NFATC4_ENST00000556169.1_Intron|NFATC4_ENST00000556759.1_Missense_Mutation_p.P352S|NFATC4_ENST00000554473.1_Intron|NFATC4_ENST00000557767.1_Intron|NFATC4_ENST00000553708.1_Missense_Mutation_p.P817S|NFATC4_ENST00000554591.1_Intron|NFATC4_ENST00000424781.2_Missense_Mutation_p.P830S|NFATC4_ENST00000422617.3_Missense_Mutation_p.P805S|NFATC4_ENST00000557451.1_Missense_Mutation_p.P747S|NFATC4_ENST00000250373.4_Missense_Mutation_p.P817S	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	817					cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GCCTCCTCTTCCTGCATCCCC	0.642000													35	143					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47853608	47853608	+	Missense_Mutation	SNP	C	C	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:47853608C>A	ENST00000289672.2	-	48	7144	c.7094G>T	c.(7093-7095)gGa>gTa	p.G2365V	C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2365					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TCCAAGAGCTCCAGGCTGAAA	0.458000													12	34					0.00010058	0.000101336	1	1	0
RNF128	79589	broad.mit.edu	37	X	106034423	106034423	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:106034423G>A	ENST00000255499.2	+	6	1362	c.1112G>A	c.(1111-1113)gGa>gAa	p.G371E	RNF128_ENST00000324342.3_Missense_Mutation_p.G345E	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	371						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TCAGTACAGGGAACAGATGAA	0.458000													47	176					0	0	1	0	0
WWTR1	25937	broad.mit.edu	37	3	149374934	149374934	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:149374934T>C	ENST00000465804.1	-	3	416	c.160A>G	c.(160-162)Aag>Gag	p.K54E	WWTR1_ENST00000467467.1_Missense_Mutation_p.K54E|WWTR1-AS1_ENST00000495094.1_RNA|WWTR1-AS1_ENST00000466836.1_RNA|WWTR1_ENST00000360632.3_Missense_Mutation_p.K54E	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	54					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TCAGGCTCCTTAAAGAAAGAC	0.632000			T	CAMTA1	epitheliod hemangioendothelioma								4	9					0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171621186	171621186	+	Missense_Mutation	SNP	C	C	T	rs144579767		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:171621186C>T	ENST00000037502.5	-	1	625	c.566G>A	c.(565-567)cGa>cAa	p.R189Q		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	189			R -> Q.		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	p.R189L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AGCAGTGTCTCGGGTCTGGGG	0.567000													67	242					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71896784	71896784	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:71896784C>T	ENST00000258104.3	+	50	5852	c.5575C>T	c.(5575-5577)Cgt>Tgt	p.R1859C	DYSF_ENST00000394120.2_Missense_Mutation_p.R1860C|DYSF_ENST00000409366.1_Missense_Mutation_p.R1881C|DYSF_ENST00000409762.1_Missense_Mutation_p.R1876C|DYSF_ENST00000409651.1_Missense_Mutation_p.R1891C|DYSF_ENST00000410041.1_Missense_Mutation_p.R1877C|DYSF_ENST00000413539.2_Missense_Mutation_p.R1890C|DYSF_ENST00000409582.3_Missense_Mutation_p.R1897C|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409744.1_Missense_Mutation_p.R1867C|DYSF_ENST00000410020.3_Missense_Mutation_p.R1898C|DYSF_ENST00000429174.2_Missense_Mutation_p.R1880C	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1859						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CGTGCATTATCGTTCCCTGGG	0.438000													29	102					0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110442725	110442725	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:110442725C>T	ENST00000265175.5	+	14	2506	c.2451C>T	c.(2449-2451)tcC>tcT	p.S817S	SEC24B_ENST00000399100.2_Silent_p.S782S|SEC24B_ENST00000504968.2_Silent_p.S847S	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	817					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		AGTTACCTTCCTTGGGTGCAG	0.413000													15	41					0	0	1	0	0
WNT9A	7483	broad.mit.edu	37	1	228109337	228109337	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:228109337C>T	ENST00000272164.5	-	4	990	c.980G>A	c.(979-981)gGc>gAc	p.G327D	WNT9A_ENST00000497852.1_Intron	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	327					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				TGTGTTATGGCCGCGGCCACA	0.657000													8	36					0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66254125	66254125	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:66254125C>T	ENST00000532677.1	+	4	933	c.532C>T	c.(532-534)Cga>Tga	p.R178*	DPP3_ENST00000453114.1_Nonsense_Mutation_p.R159*|DPP3_ENST00000360510.2_Nonsense_Mutation_p.R159*|DPP3_ENST00000541961.1_Nonsense_Mutation_p.R159*|DPP3_ENST00000531863.1_Nonsense_Mutation_p.R179*|DPP3_ENST00000530165.1_Nonsense_Mutation_p.R129*	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	159					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GCCAAGGCTTCGACACCTCGG	0.622000													24	73					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153332598	153332598	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:153332598G>A	ENST00000281708.4	-	2	1587	c.358C>T	c.(358-360)Cag>Tag	p.Q120*	FBXW7_ENST00000603548.1_Nonsense_Mutation_p.Q120*|FBXW7_ENST00000604872.1_Nonsense_Mutation_p.Q120*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.Q120*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	120					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TCACTCTCCTGGTCCATctcc	0.463000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								13	57					0	0	1	0	0
CYP3A4	1576	broad.mit.edu	37	7	99365994	99365994	+	Missense_Mutation	SNP	G	G	A	rs55901263		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:99365994G>A	ENST00000354593.2	-	2	306	c.203C>T	c.(202-204)cCa>cTa	p.P68L	CYP3A4_ENST00000336411.2_Missense_Mutation_p.P218L			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	218					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	GAGAAAGAATGGATCCAAAAA	0.333000													18	66					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46973157	46973157	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:46973157G>A	ENST00000264318.3	-	7	1799	c.817C>T	c.(817-819)Ctt>Ttt	p.L273F		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	273					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACTTGAGAAAGAATCACTGTC	0.363000													13	44					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20150033	20150033	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr20:20150033G>A	ENST00000245957.5	+	13	1390	c.1314G>A	c.(1312-1314)gtG>gtA	p.V438V	C20orf26_ENST00000451767.2_Silent_p.V438V|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_Silent_p.V438V	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	438										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AGAACTTCGTGAAAATGGTCC	0.488000													26	73					0	0	1	0	0
SPRR2D	6703	broad.mit.edu	37	1	153012733	153012733	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:153012733C>T	ENST00000368757.1	-	2	370	c.90G>A	c.(88-90)ccG>ccA	p.P30P	SPRR2D_ENST00000360379.3_Silent_p.P30P|SPRR2D_ENST00000368758.3_Silent_p.P30P|SPRR2D_ENST00000368756.1_Silent_p.P30P			P22532	SPR2D_HUMAN	small proline-rich protein 2D	30	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-[PS].				keratinization	cornified envelope|cytoplasm				endometrium(1)|skin(1)	2	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGGCACTTCGGGGGTGGAC	0.617000													37	128					0	0	1	0	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31730276	31730276	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:31730276G>A	ENST00000493662.2	+	25	2580	c.2524G>A	c.(2524-2526)Gaa>Aaa	p.E842K	MSH5_ENST00000375755.3_Missense_Mutation_p.E825K|MSH5_ENST00000534153.4_Missense_Mutation_p.E842K|MSH5_ENST00000375703.3_Missense_Mutation_p.E826K|MSH5_ENST00000395853.1_Missense_Mutation_p.E499K|MSH5_ENST00000375750.3_Missense_Mutation_p.E825K|MSH5-SAPCD1_ENST00000491552.1_3'UTR|MSH5_ENST00000375742.3_Missense_Mutation_p.E842K|MSH5_ENST00000431848.2_Missense_Mutation_p.E524K|MSH5_ENST00000375740.3_Missense_Mutation_p.E813K																							CATGAGCCAGGAAGTGCTGCC	0.507000													15	50					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													4	32					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28966761	28966761	+	Silent	SNP	G	G	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr18:28966761G>C	ENST00000359747.4	+	3	224	c.195G>C	c.(193-195)tcG>tcC	p.S65S	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Silent_p.S65S|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	65	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGGACAACTCGAAGAGGAACC	0.448000													29	68					0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21213314	21213314	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:21213314C>T	ENST00000574002.1	-	13	1800	c.1318G>A	c.(1318-1320)Gaa>Aaa	p.E440K	ZP2_ENST00000574091.1_Missense_Mutation_p.E440K|ZP2_ENST00000219593.4_Missense_Mutation_p.E440K|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	440	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GCATGTATTTCGTTTTCATAG	0.393000													35	125					0	0	1	0	0
CEP135	9662	broad.mit.edu	37	4	56890672	56890672	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:56890672G>A	ENST00000257287.4	+	25	3450	c.3326G>A	c.(3325-3327)cGa>cAa	p.R1109Q		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	1109					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	p.R1109L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					AACAGAGAACGAGCAATCCAA	0.378000													57	199					0	0	1	0	0
OR1L3	26735	broad.mit.edu	37	9	125437562	125437562	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:125437562G>A	ENST00000304820.2	+	1	248	c.154G>A	c.(154-156)Gat>Aat	p.D52N		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TATCCACTCTGATCCTCGACT	0.433000													39	152					0	0	1	0	0
TAT	6898	broad.mit.edu	37	16	71602114	71602114	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:71602114C>T	ENST00000355962.4	-	12	1431	c.1298G>A	c.(1297-1299)cGg>cAg	p.R433Q	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	433					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	CTCCTGGATCCGGCTGCACGC	0.517000													16	50					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255812	15255812	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:15255812C>T	ENST00000378116.4	-	8	1781	c.1775G>A	c.(1774-1776)gGg>gAg	p.G592E		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	592				G -> R (in Ref. 4; AAH34232).		integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GGAGTGGTCCCCGGGGAGTTT	0.547000													36	103					0	0	1	0	0
CLCN6	1185	broad.mit.edu	37	1	11887244	11887244	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:11887244C>T	ENST00000346436.6	+	10	858	c.806C>T	c.(805-807)tCg>tTg	p.S269L	CLCN6_ENST00000376496.3_Missense_Mutation_p.S269L|CLCN6_ENST00000376487.3_Missense_Mutation_p.S247L|CLCN6_ENST00000312413.6_Missense_Mutation_p.S269L|CLCN6_ENST00000376492.3_3'UTR	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	269					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGAGGGTTCGTCCTTCTGG	0.552000													9	38					0	0	1	0	0
B3GNT4	79369	broad.mit.edu	37	12	122691281	122691281	+	Silent	SNP	G	G	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:122691281G>T	ENST00000535274.1	+	1	2135	c.408G>T	c.(406-408)gtG>gtT	p.V136V	B3GNT4_ENST00000546192.1_Silent_p.V136V|B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000324189.4_Silent_p.V161V			Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	161					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		TCCTAGGGGTGGCAGGATCCG	0.637000													19	47					3.32936e-07	3.37129e-07	1	1	0
CLCN5	1184	broad.mit.edu	37	X	49851137	49851137	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:49851137C>T	ENST00000376088.3	+	11	1808	c.1167C>T	c.(1165-1167)ctC>ctT	p.L389L	CLCN5_ENST00000307367.2_Silent_p.L319L|CLCN5_ENST00000376091.3_Silent_p.L389L|CLCN5_ENST00000376108.3_Silent_p.L319L	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	319					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding	p.L319L(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TCTTTGAGCTCGTGCCATTCA	0.512000													18	54					0	0	1	0	0
SLC15A1	6564	broad.mit.edu	37	13	99358483	99358483	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr13:99358483C>T	ENST00000376503.5	-	16	1229	c.1174G>A	c.(1174-1176)Gga>Aga	p.G392R		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	392					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	ACTTCGTTTCCTTTGGGGAAG	0.393000													18	48					0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5754252	5754252	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:5754252C>T	ENST00000381624.3	+	13	1335	c.1274C>T	c.(1273-1275)cCt>cTt	p.P425L	CATSPERD_ENST00000381614.2_Missense_Mutation_p.P83L|CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	425						integral to membrane		p.P425H(1)									TCCCTGATTCCTCTGGTAAGT	0.493000													26	86					0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5905798	5905798	+	Silent	SNP	A	A	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:5905798A>G	ENST00000316987.2	+	1	298	c.276A>G	c.(274-276)caA>caG	p.Q92Q		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAACCTCCAAGAGATCAGCT	0.463000													26	104					0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50869716	50869716	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr22:50869716G>A	ENST00000359139.3	+	11	1634	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	PPP6R2_ENST00000216061.5_Missense_Mutation_p.E414K|PPP6R2_ENST00000395741.3_Missense_Mutation_p.E415K|PPP6R2_ENST00000395744.3_Missense_Mutation_p.E414K	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	414						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CAGCGGATCCGAGAGCAGGGT	0.597000													21	69					0	0	1	0	0
PPME1	51400	broad.mit.edu	37	11	73941314	73941314	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:73941314C>T	ENST00000328257.8	+	6	746	c.423C>T	c.(421-423)gcC>gcT	p.A141A	PPME1_ENST00000398427.4_Silent_p.A141A			Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	141					protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					TGGTTGAAGCCATGTATGGGG	0.448000													29	121					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88472554	88472554	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:88472554C>T	ENST00000394480.1	-	17	2322	c.2001G>A	c.(1999-2001)atG>atA	p.M667I	NTRK3_ENST00000542733.2_Missense_Mutation_p.M569I|NTRK3_ENST00000360948.2_Missense_Mutation_p.M667I|NTRK3_ENST00000557856.1_Missense_Mutation_p.M659I|NTRK3_ENST00000355254.2_Missense_Mutation_p.M667I|NTRK3_ENST00000357724.2_Missense_Mutation_p.M659I|NTRK3_ENST00000558676.1_Missense_Mutation_p.M659I	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	667	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCAGGTACACCATACCCGAGG	0.582000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			12	48					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20006621	20006621	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr13:20006621G>A	ENST00000400230.2	-	16	1258	c.1214C>T	c.(1213-1215)tCg>tTg	p.S405L	TPTE2_ENST00000400103.2_Missense_Mutation_p.S294L|TPTE2_ENST00000382978.1_Missense_Mutation_p.S365L|TPTE2_ENST00000382977.4_Missense_Mutation_p.S405L|TPTE2_ENST00000255310.6_Missense_Mutation_p.S328L|TPTE2_ENST00000382975.4_Missense_Mutation_p.S365L|TPTE2_ENST00000390680.2_Missense_Mutation_p.S328L|TPTE2_ENST00000457266.2_Missense_Mutation_p.S294L			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	405	C2 tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACCACGAATCGAATAAATAAT	0.388000													5	31					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			16	51					0	0	1	0	0
C10orf129	142827	broad.mit.edu	37	10	96971721	96971721	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:96971721G>A	ENST00000341686.3	+	6	967	c.842G>A	c.(841-843)gGa>gAa	p.G281E	C10orf129_ENST00000394005.3_Missense_Mutation_p.G281E|C10orf129_ENST00000430183.1_Missense_Mutation_p.G126E	NM_207321.2	NP_997204.2	Q6P461	ACSM6_HUMAN	chromosome 10 open reading frame 129	281					fatty acid metabolic process	mitochondrion	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GCTGTCTTGGGAACTTGGTTC	0.483000													18	60					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92086801	92086801	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:92086801C>T	ENST00000298047.6	+	1	1540	c.1523C>T	c.(1522-1524)aCc>aTc	p.T508I	FAT3_ENST00000409404.2_Missense_Mutation_p.T508I|FAT3_ENST00000541502.1_Missense_Mutation_p.T508I|FAT3_ENST00000525166.1_Missense_Mutation_p.T358I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	508	Cadherin 5.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGGTACATCACCTATAGTATC	0.398000										TCGA Ovarian(4;0.039)			26	96					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103412809	103412809	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:103412809G>A	ENST00000361246.2	-	28	4032	c.3744C>T	c.(3742-3744)atC>atT	p.I1248I		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1248	CNH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		ACGTACCCACGATGGCAGCTG	0.547000													9	53					0	0	1	0	0
SNHG7	84973	broad.mit.edu	37	9	139620491	139620491	+	RNA	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:139620491G>A	ENST00000414282.1	-	0	451				SNHG7_ENST00000436596.1_RNA|SNHG7_ENST00000447221.1_RNA|SNHG7_ENST00000416970.1_RNA																							CTCCCTCATGGAGCAAACCAG	0.498000													9	49					0	0	1	0	0
PAX4	5078	broad.mit.edu	37	7	127254563	127254563	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:127254563G>A	ENST00000341640.2	-	3	590	c.385C>T	c.(385-387)Cta>Tta	p.L129L	PAX4_ENST00000338516.3_Silent_p.L137L|PAX4_ENST00000463946.1_Silent_p.L127L|PAX4_ENST00000378740.2_Silent_p.L129L	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	137	Paired.		R -> W (in diabetes mellitus type 2).		cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GTGCACGGTAGTCCCTGGTCC	0.547000													3	8					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41668001	41668001	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr21:41668001G>A	ENST00000400454.1	-	10	2640	c.2163C>T	c.(2161-2163)atC>atT	p.I721I		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	721	Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATTTCCACACGATGGTAGGTA	0.428000													12	59					0	0	1	0	0
CHDC2	286464	broad.mit.edu	37	X	36162748	36162748	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:36162748C>T	ENST00000378660.1	+	11	1519	c.1331C>T	c.(1330-1332)tCa>tTa	p.S444L	CHDC2_ENST00000313548.4_Missense_Mutation_p.S444L					calponin homology domain containing 2																		gatatgccctcagtgtgggtt	0.468000													19	35					0	0	1	0	0
ASPG	374569	broad.mit.edu	37	14	104570792	104570792	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:104570792G>A	ENST00000551177.1	+	8	997	c.905G>A	c.(904-906)gGg>gAg	p.G302E	ASPG_ENST00000455920.2_Missense_Mutation_p.G302E|ASPG_ENST00000546892.2_Missense_Mutation_p.G302E	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	302	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						TGCCTCCAGGGGGCTGTGACC	0.667000													7	29					0	0	1	0	0
OLR1	4973	broad.mit.edu	37	12	10312595	10312595	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:10312595G>A	ENST00000309539.3	-	6	766	c.706C>T	c.(706-708)Cag>Tag	p.Q236*	OLR1_ENST00000432556.2_3'UTR|OLR1_ENST00000545927.1_3'UTR|OLR1_ENST00000544577.1_Intron|OLR1_ENST00000543993.1_3'UTR	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like) receptor 1	236	C-type lectin.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GGGTATGTCTGGGAGACAGCG	0.418000													30	120					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767386	57767386	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr20:57767386G>A	ENST00000371030.2	+	1	1312	c.1312G>A	c.(1312-1314)Ggc>Agc	p.G438S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	438						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GTCCAAACAGGGCAGCATCGA	0.682000													10	26					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897918	36897918	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:36897918C>T	ENST00000301807.6	-	12	3410	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	TRANK1_ENST00000428977.2_Missense_Mutation_p.E505K|TRANK1_ENST00000429976.2_Missense_Mutation_p.E1055K	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1055					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCAGCTTTTTCCCAGTAAACG	0.537000													8	29					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50089728	50089728	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:50089728G>A	ENST00000376042.1	+	10	4030	c.3732G>A	c.(3730-3732)atG>atA	p.M1244I	CCNB3_ENST00000376038.1_Missense_Mutation_p.M140I|CCNB3_ENST00000276014.7_Missense_Mutation_p.M1244I|CCNB3_ENST00000348603.2_Missense_Mutation_p.M140I			Q8WWL7	CCNB3_HUMAN	cyclin B3	1244					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TACTCAGCATGGAAATCAACA	0.458000													15	78					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9258271	9258271	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr18:9258271C>T	ENST00000383440.2	+	8	5194	c.4937C>T	c.(4936-4938)cCa>cTa	p.P1646L	ANKRD12_ENST00000400020.3_Missense_Mutation_p.P1646L|ANKRD12_ENST00000262126.3_Missense_Mutation_p.P1669L	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1669						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GAACAAGATCCAAAACATTGT	0.363000													14	35					0	0	1	0	0
BEST2	54831	broad.mit.edu	37	19	12866708	12866708	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:12866708G>A	ENST00000549706.1	+	8	1231	c.907G>A	c.(907-909)Gat>Aat	p.D303N	BEST2_ENST00000042931.1_Missense_Mutation_p.D303N|BEST2_ENST00000553030.1_Missense_Mutation_p.D303N			Q8NFU1	BEST2_HUMAN	bestrophin 2	303					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						AGAGGACGATGATGACTTTGA	0.557000													26	65					0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189705417	189705417	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:189705417G>A	ENST00000319332.5	-	5	1194	c.997C>T	c.(997-999)Ctt>Ttt	p.L333F	LEPREL1_ENST00000427335.2_Missense_Mutation_p.L152F	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	333					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGGCATAGAAGATAGGCTTTG	0.463000													19	77					0	0	1	0	0
GABRA5	2558	broad.mit.edu	37	15	27128374	27128374	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:27128374G>A	ENST00000335625.5	+	5	1158	c.270G>A	c.(268-270)acG>acA	p.T90T	GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000355395.5_Silent_p.T90T|GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000400081.3_Silent_p.T90T	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	90					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGTCCGACACGGAAATGGTAG	0.652000													14	41					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89392937	89392937	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:89392937C>T	ENST00000439576.2	+	10	2375	c.2001C>T	c.(1999-2001)tcC>tcT	p.S667S	ACAN_ENST00000352105.7_Silent_p.S667S|ACAN_ENST00000561243.1_Silent_p.S667S|ACAN_ENST00000559004.1_Silent_p.S667S|ACAN_ENST00000558207.1_Silent_p.S667S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	667					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			ACCCACTGTCCCGGCACCATG	0.632000													4	17					0	0	1	0	0
COLEC12	81035	broad.mit.edu	37	18	334970	334970	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr18:334970C>T	ENST00000400256.3	-	6	1795	c.1588G>A	c.(1588-1590)Ggc>Agc	p.G530S		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	530	Collagen-like 3.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CCTGGTGGGCCCGGGGGGCCT	0.716000													3	18					0	0	1	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58189851	58189851	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:58189851G>A	ENST00000318203.5	+	5	1577	c.880G>A	c.(880-882)Gga>Aga	p.G294R		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	294					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAGCAATGAGGGAAATTCCAC	0.473000													23	82					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62598778	62598778	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:62598778G>A	ENST00000512091.1	+	7	1448	c.701G>A	c.(700-702)cGg>cAg	p.R234Q	LPHN3_ENST00000506700.1_Missense_Mutation_p.R234Q|LPHN3_ENST00000514591.1_Missense_Mutation_p.R234Q|LPHN3_ENST00000514996.1_Missense_Mutation_p.R234Q|LPHN3_ENST00000514157.1_Missense_Mutation_p.R234Q|LPHN3_ENST00000545650.1_Missense_Mutation_p.R234Q|LPHN3_ENST00000506720.1_Missense_Mutation_p.R302Q|LPHN3_ENST00000511324.1_Missense_Mutation_p.R302Q|LPHN3_ENST00000507625.1_Missense_Mutation_p.R302Q|LPHN3_ENST00000504896.1_Missense_Mutation_p.R234Q|LPHN3_ENST00000509896.1_Missense_Mutation_p.R302Q|LPHN3_ENST00000508946.1_Missense_Mutation_p.R234Q|LPHN3_ENST00000507164.1_Missense_Mutation_p.R302Q|LPHN3_ENST00000508693.1_Missense_Mutation_p.R302Q|LPHN3_ENST00000506746.1_Missense_Mutation_p.R302Q			Q9HAR2	LPHN3_HUMAN	latrophilin 3	234	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TTTGATTTGCGGACTAGGATA	0.463000													7	33					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166019296	166019296	+	Missense_Mutation	SNP	T	T	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:166019296T>G	ENST00000360093.3	-	8	1228	c.737A>C	c.(736-738)aAg>aCg	p.K246T	SCN3A_ENST00000409101.3_Missense_Mutation_p.K246T|SCN3A_ENST00000283254.7_Missense_Mutation_p.K246T	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	246						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ATCAGAAAGCTTCTTTACCGA	0.458000													20	146					0	0	1	0	0
ELAC2	60528	broad.mit.edu	37	17	12896253	12896253	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:12896253C>T	ENST00000338034.4	-	24	2602	c.2363G>A	c.(2362-2364)cGg>cAg	p.R788Q	ELAC2_ENST00000426905.3_Missense_Mutation_p.R748Q|ELAC2_ENST00000395962.2_Missense_Mutation_p.R769Q	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	788					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						CCGCACCTGCCGCAGCTCCCG	0.657000													24	76					0	0	1	0	0
KIAA1841	84542	broad.mit.edu	37	2	61300669	61300669	+	Missense_Mutation	SNP	G	G	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:61300669G>C	ENST00000402291.1	+	5	655	c.414G>C	c.(412-414)atG>atC	p.M138I	KIAA1841_ENST00000453873.1_Missense_Mutation_p.M138I|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000356719.2_Missense_Mutation_p.M138I|KIAA1841_ENST00000295031.5_Missense_Mutation_p.M138I	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	138										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GTGGAGAAATGACTGAAGAAT	0.328000													7	41					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48755183	48755183	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:48755183G>A	ENST00000285238.8	+	24	3537	c.3457G>A	c.(3457-3459)Gag>Aag	p.E1153K		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1153	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCACTTTTCGGAGACAGTGAC	0.537000													57	186					0	0	1	0	0
KIF3C	3797	broad.mit.edu	37	2	26152835	26152835	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:26152835G>A	ENST00000264712.3	-	6	2683	c.2104C>T	c.(2104-2106)Ccc>Tcc	p.P702S	KIF3C_ENST00000496378.1_5'UTR|KIF3C_ENST00000405914.1_Missense_Mutation_p.P702S	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	702	Globular (Potential).				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTACCTGGGGTGGGACCCC	0.607000													36	87					0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	49825013	49825013	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:49825013C>T	ENST00000451037.2	-	4	1385	c.445G>A	c.(445-447)Gga>Aga	p.G149R	CA10_ENST00000571918.1_5'UTR|CA10_ENST00000442502.2_Missense_Mutation_p.G149R|CA10_ENST00000570565.1_Missense_Mutation_p.G74R|CA10_ENST00000285273.4_Missense_Mutation_p.G149R|CA10_ENST00000340813.6_Missense_Mutation_p.G155R	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	149					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			AAGGCCTGTCCATTGAGGAGG	0.502000													33	138					0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88652371	88652371	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:88652371C>T	ENST00000340700.5	-	7	1576	c.1125G>A	c.(1123-1125)atG>atA	p.M375I	KCNK10_ENST00000319231.5_Missense_Mutation_p.M380I|KCNK10_ENST00000312350.5_Missense_Mutation_p.M380I	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	375					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GCCGGCGCTCCATGCTGCGGA	0.667000													7	31					0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98655019	98655019	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr13:98655019C>T	ENST00000261574.5	+	15	1549	c.1369C>T	c.(1369-1371)Cat>Tat	p.H457Y	IPO5_ENST00000539640.1_Missense_Mutation_p.H314Y|IPO5_ENST00000490680.1_Missense_Mutation_p.H439Y	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	439					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						AAAGAAATTTCATGAGAAGGT	0.418000													23	66					0	0	1	0	0
SLC6A7	6534	broad.mit.edu	37	5	149576695	149576695	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:149576695C>T	ENST00000230671.2	+	4	811	c.440C>T	c.(439-441)tCc>tTc	p.S147F	SLC6A7_ENST00000524041.1_Missense_Mutation_p.S147F	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	147						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CTCTTCGCCTCCCTCACCAGC	0.622000													13	55					0	0	1	0	0
RPL6	6128	broad.mit.edu	37	12	112846061	112846061	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:112846061C>T	ENST00000424576.2	-	3	504	c.319G>A	c.(319-321)Gtt>Att	p.V107I	RPL6_ENST00000202773.9_Missense_Mutation_p.V107I	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	107					endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome			cervix(1)|large_intestine(6)|lung(3)	10						CGAAGTTTAACCACCCGGGTA	0.398000													14	69					0	0	1	0	0
CCNE1	898	broad.mit.edu	37	19	30313009	30313009	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:30313009C>T	ENST00000262643.3	+	9	1091	c.812C>T	c.(811-813)cCc>cTc	p.P271L	CCNE1_ENST00000357943.5_Missense_Mutation_p.P228L|CCNE1_ENST00000444983.2_Missense_Mutation_p.P256L	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	271					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			CCGCAGTATCCCCAGCAAATC	0.488000			A		serous ovarian								33	85					0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180420145	180420145	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:180420145G>A	ENST00000342868.6	+	2	566	c.382G>A	c.(382-384)Gag>Aag	p.E128K		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	128					lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GGCCACCTGGGAGCTGCGGGT	0.458000													3	9					0	0	1	0	0
KAZALD1	81621	broad.mit.edu	37	10	102822604	102822604	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:102822604C>T	ENST00000370200.5	+	2	581	c.255C>T	c.(253-255)ctC>ctT	p.L85L		NM_030929.4	NP_112191.2	Q96I82	KAZD1_HUMAN	Kazal-type serine peptidase inhibitor domain 1	85	IGFBP N-terminal.				cell differentiation|multicellular organismal development|ossification|regulation of cell growth		insulin-like growth factor binding			endometrium(1)|ovary(1)|prostate(2)	4				Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		GCGCCAACCTCGAGGGCCAGC	0.736000													8	23					0	0	1	0	0
IP6K2	51447	broad.mit.edu	37	3	48730484	48730484	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:48730484G>A	ENST00000328631.5	-	3	554	c.331C>T	c.(331-333)Cta>Tta	p.L111L		NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	111					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						GTCCACCTTAGGAGCTTACTT	0.413000													60	199					0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18874996	18874996	+	Silent	SNP	T	T	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:18874996T>A	ENST00000388995.6	-	6	2371	c.2148A>T	c.(2146-2148)ggA>ggT	p.G716G	FAM83G_ENST00000345041.4_Silent_p.G716G|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000585154.2_Silent_p.G716G			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	716										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						ACCTAGGGGGTCCTGGGAAGC	0.622000													16	44					0	0	1	0	0
DGAT2	84649	broad.mit.edu	37	11	75508220	75508220	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:75508220C>T	ENST00000228027.7	+	6	912	c.652C>T	c.(652-654)Cgg>Tgg	p.R218W	DGAT2_ENST00000376262.3_Missense_Mutation_p.R175W	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	218					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)					CCCTGTCAGCCGGGACACCAT	0.552000													31	127					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114286226	114286226	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:114286226C>T	ENST00000357077.4	+	41	10973	c.10920C>T	c.(10918-10920)atC>atT	p.I3640I	ANK2_ENST00000509550.1_Silent_p.I731I|ANK2_ENST00000264366.6_Silent_p.I3607I|ANK2_ENST00000394537.3_Silent_p.I1555I|ANK2_ENST00000510275.2_Silent_p.I207I|ANK2_ENST00000506722.1_Silent_p.I1546I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3607					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCACCAAGATCAACCGAATGG	0.408000													32	130					0	0	1	0	0
STOML3	161003	broad.mit.edu	37	13	39544522	39544522	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr13:39544522G>A	ENST00000379631.4	-	5	660	c.316C>T	c.(316-318)Ctc>Ttc	p.L106F	STOML3_ENST00000423210.1_Missense_Mutation_p.L97F	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	106						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		TCTCTGGTGAGGATCTGTGGA	0.458000													25	76					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113697683	113697683	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:113697683G>A	ENST00000297405.5	-	15	2678	c.2434C>T	c.(2434-2436)Cag>Tag	p.Q812*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Q708*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Q812*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Q772*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	812	CUB 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGTCAGCCTGAAATTCCAAT	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			18	102					0	0	1	0	0
MGAT1	4245	broad.mit.edu	37	5	180219443	180219443	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:180219443G>A	ENST00000446023.2	-	3	1279	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	MGAT1_ENST00000393340.3_Missense_Mutation_p.R177C|MGAT1_ENST00000307826.4_Missense_Mutation_p.R177C|MGAT1_ENST00000333055.3_Missense_Mutation_p.R177C|MGAT1_ENST00000427865.2_Missense_Mutation_p.R177C	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	177					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGAACTTGCGGTGGTCCGGC	0.701000													31	69					0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33284653	33284653	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:33284653G>A	ENST00000431845.2	-	2	192	c.41C>T	c.(40-42)cCc>cTc	p.P14L	ZBTB22_ENST00000418724.1_Missense_Mutation_p.P14L	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	14					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CAGCGGCAGGGGAAGTGCTGC	0.647000													4	19					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120989063	120989063	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:120989063C>T	ENST00000392793.1	+	7	1110	c.839C>T	c.(838-840)aCc>aTc	p.T280I	TECTA_ENST00000264037.2_Missense_Mutation_p.T280I			O75443	TECTA_HUMAN	tectorin alpha	280	VWFC.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTGAACTGCACCGTCAAGTGC	0.502000													13	63					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118198921	118198921	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:118198921G>A	ENST00000425217.1	-	4	848	c.794C>T	c.(793-795)tCc>tTc	p.S265F	KSR2_ENST00000339824.5_Missense_Mutation_p.S294F	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	294	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTTCGGGAGGAGGGCGGTGG	0.672000													26	131					0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123594119	123594119	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:123594119G>A	ENST00000340011.5	+	3	852	c.495G>A	c.(493-495)aaG>aaA	p.K165K	SPAM1_ENST00000460182.1_Silent_p.K165K|SPAM1_ENST00000402183.2_Silent_p.K165K|SPAM1_ENST00000439500.1_Silent_p.K165K|SPAM1_ENST00000223028.7_Silent_p.K165K	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	165					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	ATGTTTACAAGAATAGGTCTA	0.393000													20	85					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144994260	144994260	+	Silent	SNP	C	C	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:144994260C>A	ENST00000322810.4	-	32	10309	c.10140G>T	c.(10138-10140)gtG>gtT	p.V3380V	PLEC_ENST00000527096.1_Silent_p.V3266V|PLEC_ENST00000345136.3_Silent_p.V3243V|PLEC_ENST00000398774.2_Silent_p.V3211V|PLEC_ENST00000356346.3_Silent_p.V3229V|PLEC_ENST00000354589.3_Silent_p.V3243V|PLEC_ENST00000357649.2_Silent_p.V3247V|PLEC_ENST00000354958.2_Silent_p.V3221V|PLEC_ENST00000436759.2_Silent_p.V3270V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3380	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGAAGCCACCCACGGGGACCT	0.632000													39	58					6.97489e-18	7.16195e-18	1	1	0
SLC47A1	55244	broad.mit.edu	37	17	19470492	19470492	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:19470492C>T	ENST00000270570.4	+	14	1346	c.1260C>T	c.(1258-1260)ggC>ggT	p.G420G	SLC47A1_ENST00000436810.2_Silent_p.G397G|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000457293.1_Silent_p.G420G|SLC47A1_ENST00000395585.1_Silent_p.G420G|SLC47A1_ENST00000571335.1_Silent_p.G225G	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	420						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					ATGTGGTTGGCCTCCCCATCG	0.547000													44	161					0	0	1	0	0
GOT1	2805	broad.mit.edu	37	10	101166509	101166509	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:101166509G>A	ENST00000370508.5	-	3	425	c.398C>T	c.(397-399)cCt>cTt	p.P133L	GOT1_ENST00000543866.1_Missense_Mutation_p.P112L	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	133					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CACATAGACAGGTGTGTTCTT	0.473000													9	35					0	0	1	0	0
IP6K2	51447	broad.mit.edu	37	3	48730485	48730485	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:48730485G>A	ENST00000328631.5	-	3	553	c.330C>T	c.(328-330)ctC>ctT	p.L110L		NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	110					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						TCCACCTTAGGAGCTTACTTT	0.408000													60	199					0	0	1	0	0
MCM9	254394	broad.mit.edu	37	6	119245020	119245020	+	Missense_Mutation	SNP	G	G	A	rs150656647		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:119245020G>A	ENST00000316316.6	-	3	863	c.577C>T	c.(577-579)Cca>Tca	p.P193S	MCM9_ENST00000316068.3_Missense_Mutation_p.P193S	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	193					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		CACCTGGTTGGAGACGAAGAC	0.418000													20	54					0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29879464	29879464	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr22:29879464G>A	ENST00000310624.6	+	2	1017	c.984G>A	c.(982-984)agG>agA	p.R328R		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	328	Coil 2B.|Rod.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TGCAGGCCAGGACCACAGAGC	0.612000													36	115					0	0	1	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54107625	54107625	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:54107625G>A	ENST00000548263.1	-	13	1699	c.1651C>T	c.(1651-1653)Ccc>Tcc	p.P551S	CALCOCO1_ENST00000550804.1_Missense_Mutation_p.P551S|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.P466S|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.P551S			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	551	C-terminal AD (CTNNB1 binding site) (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						AGGCCATAGGGTGGGAGCCTC	0.587000													27	81					0	0	1	0	0
KANSL2	54934	broad.mit.edu	37	12	49061521	49061521	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:49061521G>A	ENST00000550347.1	-	6	1520	c.1477C>T	c.(1477-1479)Cgt>Tgt	p.R493C	KANSL2_ENST00000420613.2_Missense_Mutation_p.R310C|KANSL2_ENST00000553086.1_Missense_Mutation_p.R310C|KANSL2_ENST00000357861.3_Missense_Mutation_p.R115C			Q9H9L4	CL041_HUMAN	KAT8 regulatory NSL complex subunit 2	310																	TTGGAACAACGAACATCATCC	0.443000													23	118					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121477623	121477623	+	Missense_Mutation	SNP	G	G	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:121477623G>T	ENST00000260197.7	+	36	5147	c.5018G>T	c.(5017-5019)tGg>tTg	p.W1673L	SORL1_ENST00000532694.1_Missense_Mutation_p.W519L|SORL1_ENST00000534286.1_Missense_Mutation_p.W583L|SORL1_ENST00000525532.1_Missense_Mutation_p.W617L|SORL1_ENST00000527934.1_Missense_Mutation_p.W288L	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1673	Fibronectin type-III 2.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GTAGGCCACTGGGCTCCTCCC	0.517000													43	125					1.8453e-21	1.89721e-21	1	1	0
ZMYND15	84225	broad.mit.edu	37	17	4647081	4647081	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:4647081C>T	ENST00000433935.1	+	7	1374	c.1317C>T	c.(1315-1317)ctC>ctT	p.L439L	ZMYND15_ENST00000592813.1_Silent_p.L439L|ZMYND15_ENST00000269289.6_Silent_p.L439L|ZMYND15_ENST00000573751.2_Silent_p.L439L	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	439							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						ACCAGCTTCTCCAGGGAGACG	0.632000													11	26					0	0	1	0	0
OR8B3	390271	broad.mit.edu	37	11	124266338	124266338	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:124266338G>A	ENST00000354597.3	-	1	926	c.910C>T	c.(910-912)Ctg>Ttg	p.L304L		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ATTTTAATCAGAGCTTTCCTC	0.328000													25	92					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37026557	37026557	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:37026557C>T	ENST00000358047.3	+	1	126	c.74C>T	c.(73-75)cCg>cTg	p.P25L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	25								p.P25L(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TGTGACAAACCGCCTTCCAAG	0.647000													5	24					0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61011251	61011251	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:61011251C>T	ENST00000435852.2	-	13	1765	c.1718G>A	c.(1717-1719)cGg>cAg	p.R573Q	FAM13C_ENST00000277705.6_Intron|FAM13C_ENST00000468840.2_Intron|FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000373867.3_Intron|FAM13C_ENST00000373868.2_Intron|FAM13C_ENST00000442566.3_Intron			Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	0										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AAAAAGTCACCGTTCCTGCAA	0.358000													13	44					0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134047120	134047120	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:134047120G>A	ENST00000534548.2	-	23	3079	c.3015C>T	c.(3013-3015)ctC>ctT	p.L1005L		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1005					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GCACCTGCAAGAGATTGGTAA	0.458000													21	57					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143093351	143093351	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:143093351G>A	ENST00000367603.2	-	5	3267	c.2525C>T	c.(2524-2526)tCa>tTa	p.S842L	HIVEP2_ENST00000012134.2_Missense_Mutation_p.S842L|HIVEP2_ENST00000367604.1_Missense_Mutation_p.S842L	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	842					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGGGGCTTCTGAAATCTCACT	0.547000													15	34					0	0	1	0	0
ADH1A	124	broad.mit.edu	37	4	100208729	100208729	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:100208729G>A	ENST00000209668.2	-	2	225	c.112C>T	c.(112-114)Cgt>Tgt	p.R38C	ADH1A_ENST00000511656.1_5'UTR|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	38					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	ACCTTAATACGAACTTCATGG	0.348000													9	50					0	0	1	0	0
OR1D4	653166	broad.mit.edu	37	17	3144330	3144330	+	RNA	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:3144330G>A	ENST00000531680.1	+	0	361					NR_033795.1				olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene)																		GATGGCGTATGATCGCTATGT	0.567000													13	64					0	0	1	0	0
IGHV1-3	28473	broad.mit.edu	37	14	106471667	106471667	+	RNA	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:106471667C>T	ENST00000390595.2	-	0	56																											AGAGGATCCTCCAGGTCCAGT	0.557000													6	35					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95792002	95792002	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:95792002G>A	ENST00000260766.3	+	2	1833	c.1199G>A	c.(1198-1200)tGg>tAg	p.W400*	PLCE1_ENST00000371380.2_Nonsense_Mutation_p.W400*	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	400					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GAAGCCCAGTGGTATCCTGTA	0.393000													16	49					0	0	1	0	0
IFNE	338376	broad.mit.edu	37	9	21481523	21481523	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:21481523C>T	ENST00000448696.3	-	1	789	c.171G>A	c.(169-171)agG>agA	p.R57R	MIR31HG_ENST00000304425.3_RNA	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN	interferon, epsilon	57					defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(2)|lung(1)|skin(1)	4						GAAAGTTTTTCCTGTGTGGTA	0.413000													24	76					0	0	1	0	0
ICK	22858	broad.mit.edu	37	6	52905945	52905945	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:52905945G>A	ENST00000356971.3	-	3	579	c.90C>T	c.(88-90)atC>atT	p.I30I	ICK_ENST00000350082.5_Silent_p.I30I	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	30	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TTTTAATAGCGATCAGCTCCC	0.473000													38	105					0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7463275	7463275	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:7463275C>T	ENST00000399422.4	+	3	601	c.553C>T	c.(553-555)Ctt>Ttt	p.L185F		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	185					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						GTGTCCTGACCTTAAGACAAA	0.527000													5	16					0	0	1	0	0
ECHS1	1892	broad.mit.edu	37	10	135184102	135184102	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:135184102C>T	ENST00000368547.3	-	2	603	c.248G>A	c.(247-249)gGg>gAg	p.G83E		NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	83					fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		GACAATGGCCCCCACGGCCGG	0.627000													9	19					0	0	1	0	0
HAS2	3037	broad.mit.edu	37	8	122626951	122626951	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:122626951G>A	ENST00000303924.4	-	4	1594	c.1057C>T	c.(1057-1059)Cgt>Tgt	p.R353C		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	353						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TTGCTCCAACGGGTCTGCTGG	0.463000													76	137					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79312443	79312443	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:79312443C>T	ENST00000419573.3	-	11	1820	c.1546G>A	c.(1546-1548)Gga>Aga	p.G516R	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.G516R	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	516	PH 2.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GATATGACTCCATTCTGAAAA	0.502000													23	84					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216591896	216591896	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:216591896C>T	ENST00000366943.2	-	3	997	c.611G>A	c.(610-612)gGg>gAg	p.G204E	USH2A_ENST00000366942.3_Missense_Mutation_p.G204E|USH2A_ENST00000307340.3_Missense_Mutation_p.G204E			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	204					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGAATTCTCCCCAGTGTCAT	0.343000										HNSCC(13;0.011)			16	77					0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71152365	71152365	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:71152365G>A	ENST00000355527.3	-	6	810	c.534C>T	c.(532-534)atC>atT	p.I178I	DHCR7_ENST00000407721.2_Silent_p.I178I	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	178					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	ACAGCAGTGGGATCCAGTTGT	0.577000									Smith-Lemli-Opitz syndrome				18	59					0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46998916	46998916	+	Silent	SNP	A	A	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:46998916A>C	ENST00000374314.4	+	1	991	c.36A>C	c.(34-36)gcA>gcC	p.A12A	GPRIN2_ENST00000374317.1_Silent_p.A12A			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	12										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GTCCCTGGGCACCCCTGAGCC	0.662000													14	130					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													3	22					0	0	1	0	0
C15orf48	84419	broad.mit.edu	37	15	45724290	45724290	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:45724290C>T	ENST00000344300.3	+	3	333	c.143C>T	c.(142-144)cCa>cTa	p.P48L	RP11-519G16.5_ENST00000559553.1_RNA|C15orf48_ENST00000396650.2_Missense_Mutation_p.P48L	NM_032413.3	NP_115789.1	Q9C002	NMES1_HUMAN	chromosome 15 open reading frame 48	48						nucleus				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)		AAAAAAAATCCAGAACCTTGG	0.318000													4	28					0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	120022042	120022042	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:120022042C>T	ENST00000379551.2	+	3	841	c.484C>T	c.(484-486)Cag>Tag	p.Q162*	PRR16_ENST00000446965.1_Nonsense_Mutation_p.Q115*|PRR16_ENST00000505123.1_Nonsense_Mutation_p.Q115*|PRR16_ENST00000407149.2_Nonsense_Mutation_p.Q185*	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	185	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GGCTCCAGTCCAGCTTCTGAT	0.473000													17	58					0	0	1	0	0
C3orf56	285311	broad.mit.edu	37	3	126916098	126916098	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:126916098G>A	ENST00000398112.1	+	2	810	c.570G>A	c.(568-570)tgG>tgA	p.W190*		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		CCTCAGAATGGGCCTCCAGGT	0.622000													13	29					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102056192	102056192	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:102056192G>A	ENST00000549145.1	+	20	2153	c.2053G>A	c.(2053-2055)Gat>Aat	p.D685N	MYBPC1_ENST00000361685.2_Missense_Mutation_p.D697N|MYBPC1_ENST00000541119.1_Missense_Mutation_p.D660N|MYBPC1_ENST00000547405.1_Missense_Mutation_p.D646N|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.D672N|MYBPC1_ENST00000553190.1_Missense_Mutation_p.D672N|MYBPC1_ENST00000361466.2_Missense_Mutation_p.D697N|MYBPC1_ENST00000545503.2_Missense_Mutation_p.D672N|MYBPC1_ENST00000392934.3_Missense_Mutation_p.D659N|MYBPC1_ENST00000360610.2_Missense_Mutation_p.D672N|MYBPC1_ENST00000547509.1_Missense_Mutation_p.D658N|MYBPC1_ENST00000452455.2_Missense_Mutation_p.D672N|MYBPC1_ENST00000551300.1_Missense_Mutation_p.D573N|MYBPC1_ENST00000441232.1_Missense_Mutation_p.D672N|MYBPC1_ENST00000536007.1_Missense_Mutation_p.D653N			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	672	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GCTGAATTTTGATCTCTGCAA	0.428000													8	54					0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087323	39087323	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr21:39087323C>T	ENST00000400482.3	-	3	726	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	KCNJ6_ENST00000288309.6_Missense_Mutation_p.R46Q	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	46					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GGTCCGATCTCGGCTGATGTG	0.547000													31	95					0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102059467	102059467	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:102059467C>T	ENST00000318222.3	-	3	740	c.358G>A	c.(358-360)Gga>Aga	p.G120R	PKD2L1_ENST00000353274.3_Missense_Mutation_p.G120R|PKD2L1_ENST00000338519.3_Missense_Mutation_p.G120R	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	120					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CTTGTCATTCCATAGGTCACT	0.483000													25	96					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113259285	113259285	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:113259285C>T	ENST00000297405.5	-	64	10430	c.10186G>A	c.(10186-10188)Gat>Aat	p.D3396N	CSMD3_ENST00000455883.2_Missense_Mutation_p.D3227N|CSMD3_ENST00000352409.3_Missense_Mutation_p.D3326N|CSMD3_ENST00000343508.3_Missense_Mutation_p.D3356N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3396	Sushi 27.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CACGTAAGATCAGGGAGGCAG	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	50					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207741239	207741239	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:207741239C>T	ENST00000367049.4	+	25	4023	c.4023C>T	c.(4021-4023)ccC>ccT	p.P1341P	CR1_ENST00000400960.2_Silent_p.P891P|CR1_ENST00000367053.1_Silent_p.P891P|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Intron|CR1_ENST00000367051.1_Silent_p.P891P	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	891	Sushi 21.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.P896P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AAGTCTTTCCCTTTGGAAAAG	0.468000													58	178					0	0	1	0	0
CEACAM21	90273	broad.mit.edu	37	19	42083885	42083885	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:42083885A>G	ENST00000187608.9	+	2	438	c.398A>G	c.(397-399)cAg>cGg	p.Q133R	CEACAM21_ENST00000401445.2_Missense_Mutation_p.Q133R|CEACAM21_ENST00000407170.2_5'UTR|CEACAM21_ENST00000482870.2_3'UTR	NM_001098506.1|NM_033543.3	NP_001091976.1|NP_291021.2	Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	133						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						CAGATTGAACAGGCATCTCAC	0.507000													25	64					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41566359	41566359	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:41566359C>T	ENST00000396942.1	-	17	2018	c.1935G>A	c.(1933-1935)gaG>gaA	p.E645E	ANK1_ENST00000289734.7_Silent_p.E645E|ANK1_ENST00000265709.8_Silent_p.E678E|ANK1_ENST00000347528.4_Silent_p.E645E|ANK1_ENST00000379758.2_Silent_p.E645E|ANK1_ENST00000352337.4_Silent_p.E645E|ANK1_ENST00000396945.1_Silent_p.E645E			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	645	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTGCGTGGCCCTCCTGGGCGG	0.622000													30	161					0	0	1	0	0
GPAA1	8733	broad.mit.edu	37	8	145138667	145138667	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:145138667C>T	ENST00000355091.4	+	4	538	c.417C>T	c.(415-417)gcC>gcT	p.A139A	GPAA1_ENST00000527144.1_3'UTR|GPAA1_ENST00000361036.6_Silent_p.A79A	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	139					attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCGTGCTGCCAGCACCGAGT	0.652000													13	43					0	0	1	0	0
HID1	283987	broad.mit.edu	37	17	72954844	72954844	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:72954844G>A	ENST00000425042.2	-	10	1241	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F		NM_030630.2	NP_085133.1			HID1 domain containing																		TCTTCAGCACGAAGAAGAGGA	0.612000											OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	28					0	0	1	0	0
RNF20	56254	broad.mit.edu	37	9	104297796	104297796	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:104297796A>G	ENST00000389120.3	+	2	181	c.91A>G	c.(91-93)Aca>Gca	p.T31A	RNF20_ENST00000481046.1_3'UTR	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	31					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TTCAGGGACCACAGTGGAAAC	0.453000													8	49					0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25708118	25708118	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:25708118C>T	ENST00000520164.1	-	15	2225	c.1688G>A	c.(1687-1689)gGa>gAa	p.G563E	EBF2_ENST00000535548.1_3'UTR|EBF2_ENST00000408929.3_Missense_Mutation_p.G415E	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	563					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		ACCTCTGAATCCATTTCCATT	0.488000													26	157					0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432091	140432091	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:140432091G>A	ENST00000306549.3	+	1	1113	c.1036G>A	c.(1036-1038)Gaa>Aaa	p.E346K		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		346	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATCCTCCCGAAGTGATGGT	0.517000													37	79					0	0	1	0	0
NUP93	9688	broad.mit.edu	37	16	56875705	56875705	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:56875705C>T	ENST00000564887.1	+	19	2569	c.1940C>T	c.(1939-1941)tCg>tTg	p.S647L	NUP93_ENST00000569842.1_Missense_Mutation_p.S770L|NUP93_ENST00000542526.1_Missense_Mutation_p.S647L|NUP93_ENST00000308159.5_Missense_Mutation_p.S770L	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	770					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						AGTCCATCCTCGTCATCCAGG	0.512000													24	107					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457569	110457569	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:110457569G>A	ENST00000378402.5	+	38	5575	c.5471G>A	c.(5470-5472)gGa>gAa	p.G1824E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1824	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGGCTCTGGGAAACCTGACT	0.473000										HNSCC(38;0.096)			17	95					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857492	9857492	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:9857492G>A	ENST00000396573.2	-	14	4218	c.3909C>T	c.(3907-3909)gaC>gaT	p.D1303D	GRIN2A_ENST00000396575.2_Silent_p.D1303D|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000330684.3_Silent_p.D1303D|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000535259.1_Intron	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1303					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCCTGCTAAGGTCTAGCTCCC	0.493000													32	88					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39788335	39788335	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:39788335C>T	ENST00000564288.1	+	32	4862	c.4085C>T	c.(4084-4086)tCc>tTc	p.S1362F	MACF1_ENST00000567887.1_Missense_Mutation_p.S1399F|MACF1_ENST00000539005.1_Missense_Mutation_p.S1367F|MACF1_ENST00000317713.7_Missense_Mutation_p.S1367F|MACF1_ENST00000545844.1_Missense_Mutation_p.S1367F|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000372915.3_Missense_Mutation_p.S1367F|MACF1_ENST00000361689.2_Missense_Mutation_p.S1367F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1367					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGCAGAAATCCCCTGGCAAG	0.468000													32	106					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118982375	118982375	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:118982375G>A	ENST00000328252.3	+	5	2447	c.2078G>A	c.(2077-2079)tGg>tAg	p.W693*	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	693					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ACACTGGAGTGGTTCCCACCT	0.562000													37	156					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423937	56423937	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:56423937C>T	ENST00000588751.1	-	5	1270	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	NLRP13_ENST00000342929.3_Missense_Mutation_p.E416K			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	416	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AAGAGAGTTTCGTTTTTTCTT	0.463000													22	67					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105193629	105193629	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:105193629G>A	ENST00000428173.2	+	27	4722	c.4419G>A	c.(4417-4419)atG>atA	p.M1473I	NRK_ENST00000243300.9_Missense_Mutation_p.M1472I|NRK_ENST00000540278.1_Missense_Mutation_p.M53I			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1472	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GAATTGGCATGATGCTCACCT	0.373000										HNSCC(51;0.14)			14	41					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13829767	13829767	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:13829767A>G	ENST00000265104.4	-	38	6400	c.6296T>C	c.(6295-6297)aTt>aCt	p.I2099T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2099	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCGGAAATTAATCTTCAAGTT	0.463000									Kartagener syndrome				13	87					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54310827	54310827	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:54310827C>T	ENST00000324134.6	-	4	2333	c.2165G>A	c.(2164-2166)cGa>cAa	p.R722Q	NLRP12_ENST00000345770.5_Missense_Mutation_p.R723Q|NLRP12_ENST00000535162.1_Missense_Mutation_p.R722Q|NLRP12_ENST00000391772.1_Missense_Mutation_p.R723Q|NLRP12_ENST00000391773.1_Missense_Mutation_p.R723Q|NLRP12_ENST00000391775.3_Missense_Mutation_p.R722Q|NLRP12_ENST00000354278.3_Missense_Mutation_p.R722Q|NLRP12_ENST00000351894.4_Missense_Mutation_p.R722Q	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	722					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.R722Q(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CAGGGCATTTCGGTACAGAGA	0.582000													17	39					0	0	1	0	0
LMO3	55885	broad.mit.edu	37	12	16713473	16713473	+	Splice_Site	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:16713473C>T	ENST00000320122.6	-	3	729		c.e3-1		LMO3_ENST00000541295.1_Splice_Site|LMO3_ENST00000540445.1_Splice_Site|LMO3_ENST00000540848.1_Splice_Site|LMO3_ENST00000354662.1_Splice_Site|LMO3_ENST00000261169.6_Splice_Site|LMO3_ENST00000541846.1_Splice_Site|LMO3_ENST00000537304.1_Splice_Site|LMO3_ENST00000447609.1_Splice_Site|LMO3_ENST00000534946.1_Splice_Site|LMO3_ENST00000535535.1_Splice_Site|LMO3_ENST00000441439.2_Splice_Site	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN	LIM domain only 3 (rhombotin-like 2)						regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				ACCAAAGAGCCTAGAATAAGA	0.408000													10	30					0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86518517	86518517	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:86518517G>A	ENST00000297814.2	-	4	1059	c.916C>T	c.(916-918)Ctg>Ttg	p.L306L	KIF27_ENST00000413982.1_Silent_p.L306L|KIF27_ENST00000334204.2_Silent_p.L306L	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	306					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CTGCCTCCCAGAGAATCTTTC	0.458000													24	78					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123334274	123334274	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:123334274G>A	ENST00000349780.4	-	2	284	c.105C>T	c.(103-105)ccC>ccT	p.P35P	CDK5RAP2_ENST00000359309.3_Silent_p.P35P|CDK5RAP2_ENST00000360190.4_Silent_p.P35P|CDK5RAP2_ENST00000360822.3_Silent_p.P35P	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	35					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						ACCCAGCATTGGGGTTGATGC	0.448000													26	43					0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	8994415	8994415	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:8994415T>A	ENST00000344836.4	-	21	2479	c.2281A>T	c.(2281-2283)Atg>Ttg	p.M761L	USP7_ENST00000535863.1_Missense_Mutation_p.M662L|USP7_ENST00000381886.4_Missense_Mutation_p.M745L	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	761	Interaction with ICP0/VMW110.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TCACCATCCATTAGTTCATCA	0.323000													7	69					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			78	117					2.17451e-35	2.23855e-35	1	1	0
CTCFL	140690	broad.mit.edu	37	20	56094421	56094421	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr20:56094421G>A	ENST00000426658.2	-	3	1428	c.767C>T	c.(766-768)aCc>aTc	p.T256I	CTCFL_ENST00000243914.3_Missense_Mutation_p.T256I|CTCFL_ENST00000502686.2_5'UTR|CTCFL_ENST00000433949.2_Missense_Mutation_p.T256I|CTCFL_ENST00000423479.2_Missense_Mutation_p.T256I|CTCFL_ENST00000432255.2_Missense_Mutation_p.T256I|CTCFL_ENST00000539382.1_Missense_Mutation_p.T51I|CTCFL_ENST00000429804.2_Missense_Mutation_p.T256I|CTCFL_ENST00000422869.2_Missense_Mutation_p.T256I|CTCFL_ENST00000481655.1_5'UTR|CTCFL_ENST00000422109.2_Missense_Mutation_p.T256I|CTCFL_ENST00000371196.2_Missense_Mutation_p.T256I			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	256					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			ACAGTGGAAGGTTCCTTTTGC	0.388000													43	139					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62038750	62038750	+	Missense_Mutation	SNP	T	T	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:62038750T>G	ENST00000578147.1	-	11	1724	c.1648A>C	c.(1648-1650)Aag>Cag	p.K550Q	SCN4A_ENST00000435607.1_Missense_Mutation_p.K550Q			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	550					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TGGGCGCACTTGTACCACCAT	0.582000													49	203					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100349913	100349913	+	RNA	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:100349913G>A	ENST00000542585.1	+	0	2333				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CATCCCCACAGAAAAATCCAC	0.522000													18	73					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	233990529	233990529	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:233990529G>A	ENST00000359570.5	+	4	424	c.424G>A	c.(424-426)Gag>Aag	p.E142K	INPP5D_ENST00000474278.1_3'UTR|INPP5D_ENST00000538935.1_Missense_Mutation_p.E142K			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	142					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAGGCCAAGGAGGTTCCTTT	0.582000													4	30					0	0	1	0	0
SLC22A17	51310	broad.mit.edu	37	14	23817418	23817418	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:23817418G>A	ENST00000354772.3	-	6	1293	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397267.1_Missense_Mutation_p.R264W|SLC22A17_ENST00000206544.8_Missense_Mutation_p.R264W|SLC22A17_ENST00000397260.3_Missense_Mutation_p.R153W	NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	264					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CCATGGGGCCGGTTTCGCTCA	0.612000													20	70					0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45127319	45127319	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:45127319G>A	ENST00000296129.1	-	9	2456	c.2322C>T	c.(2320-2322)ccC>ccT	p.P774P		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	774						extracellular region|integral to membrane|plasma membrane		p.P774P(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TGGGTGGGGAGGGAGGACAGA	0.617000													27	86					0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158065068	158065068	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:158065068C>T	ENST00000264428.4	+	8	1131	c.861C>T	c.(859-861)tcC>tcT	p.S287S	GLRB_ENST00000509282.1_Silent_p.S287S|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Silent_p.S287S	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	287					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	CCTGGCTTTCCTTCTGGATCA	0.507000													26	51					0	0	1	0	0
MPZL2	10205	broad.mit.edu	37	11	118130816	118130816	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:118130816C>T	ENST00000278937.2	-	4	665	c.537G>A	c.(535-537)cgG>cgA	p.R179R	MPZL2_ENST00000438295.2_Silent_p.R179R	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	179					anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		ATCGCTTTTTCCGGTAATGCT	0.478000													70	250					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	205990441	205990441	+	Missense_Mutation	SNP	C	C	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:205990441C>A	ENST00000406610.2	+	10	1621	c.1414C>A	c.(1414-1416)Cat>Aat	p.H472N	PARD3B_ENST00000351153.1_Missense_Mutation_p.H472N|PARD3B_ENST00000349953.3_Missense_Mutation_p.H472N|PARD3B_ENST00000462231.1_Missense_Mutation_p.H472N|PARD3B_ENST00000358768.2_Missense_Mutation_p.H472N	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	472					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CCAAGAAGGACATTTTCTGCC	0.498000													33	101					2.42023e-17	2.48197e-17	1	1	0
DGKI	9162	broad.mit.edu	37	7	137269993	137269993	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:137269993C>T	ENST00000453654.1	-	14	1164	c.625G>A	c.(625-627)Gac>Aac	p.D209N	DGKI_ENST00000288490.5_Missense_Mutation_p.D509N|DGKI_ENST00000446122.1_Missense_Mutation_p.D509N|DGKI_ENST00000424189.2_Missense_Mutation_p.D509N			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	509					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GGAGGCAAGTCGGGGTTTCTT	0.478000													30	120					0	0	1	0	0
AGPAT1	10554	broad.mit.edu	37	6	32137789	32137789	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:32137789G>A	ENST00000395499.1	-	6	1212	c.633C>T	c.(631-633)tcC>tcT	p.S211S	AGPAT1_ENST00000490711.1_5'UTR|AGPAT1_ENST00000336984.6_Silent_p.S211S|AGPAT1_ENST00000375104.2_Silent_p.S211S|PPT2-EGFL8_ENST00000422437.1_Intron|AGPAT1_ENST00000395496.1_Silent_p.S211S|AGPAT1_ENST00000375107.3_Silent_p.S211S|AGPAT1_ENST00000395497.1_Silent_p.S211S|AGPAT1_ENST00000412465.2_Silent_p.S99S			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	211					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						CTTGGTAGGAGGACATGACTA	0.562000													10	51					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11132428	11132428	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:11132428G>A	ENST00000358026.2	+	19	2928	c.2644G>A	c.(2644-2646)Gaa>Aaa	p.E882K	SMARCA4_ENST00000413806.3_Missense_Mutation_p.E882K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E882K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E882K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E882K|SMARCA4_ENST00000429416.3_Missense_Mutation_p.E882K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E882K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E882K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E882K	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	882	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GATTGTGGACGAAGGTCACCG	0.632000			"""F, N, Mis"""		NSCLC								10	15					0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167170817	167170817	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:167170817T>A	ENST00000476257.1	-	7	1169	c.871A>T	c.(871-873)Aaa>Taa	p.K291*	SERPINI2_ENST00000461846.1_Nonsense_Mutation_p.K291*|SERPINI2_ENST00000471111.1_Nonsense_Mutation_p.K291*|SERPINI2_ENST00000264677.4_Nonsense_Mutation_p.K291*			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	291					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TGTTCTACTTTAAATCTGTTA	0.299000													6	25					0	0	1	0	0
ERMAP	114625	broad.mit.edu	37	1	43300731	43300731	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:43300731C>T	ENST00000328249.3	+	2	1224	c.186C>T	c.(184-186)tcC>tcT	p.S62S	RP11-342M1.4_ENST00000414798.1_RNA|ERMAP_ENST00000487556.1_3'UTR|ERMAP_ENST00000372514.3_Silent_p.S152S|ERMAP_ENST00000372517.2_Silent_p.S152S			Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	152	Ig-like V-type.					integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGAGTCTCTCCCCCTCAGCAG	0.537000													30	74					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130410929	130410929	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:130410929C>T	ENST00000370904.1	-	20	3475	c.2565G>A	c.(2563-2565)gtG>gtA	p.V855V	IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370910.1_Silent_p.V855V|IGSF1_ENST00000370903.3_Silent_p.V869V|IGSF1_ENST00000361420.3_Silent_p.V864V			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	864	Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CCACGAGCTCCACAGGGTCGC	0.537000													57	99					0	0	1	0	0
PPP1R1B	84152	broad.mit.edu	37	17	37786257	37786257	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:37786257G>A	ENST00000254079.4	+	4	667	c.198G>A	c.(196-198)tcG>tcA	p.S66S	PPP1R1B_ENST00000580825.1_Silent_p.S66S|PPP1R1B_ENST00000394265.1_Silent_p.S30S|PPP1R1B_ENST00000579000.1_Intron|PPP1R1B_ENST00000394267.2_Silent_p.S30S	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1B	66					signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity			kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATCTCAAGTCGAAGAGACCCA	0.597000													17	63					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538745	55538745	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:55538745C>T	ENST00000220676.1	+	4	2451	c.2303C>T	c.(2302-2304)tCc>tTc	p.S768F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	768					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.S768F(1)|p.S768C(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACTCAAAATTCCAAGGTTCAA	0.289000													27	41					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47039691	47039691	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:47039691C>T	ENST00000450053.3	+	21	3272	c.3093C>T	c.(3091-3093)acC>acT	p.T1031T	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.T1031T	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1031							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ACCTCTGGACCCTCAGTGACT	0.612000													6	19					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542417	179542417	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:179542417C>T	ENST00000589042.1	-	146	34446	c.34222G>A	c.(34222-34224)Gaa>Aaa	p.E11408K	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E11091K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E10164K|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11091	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTCTTCTTCCTCAGGTACA	0.448000													45	80					0	0	1	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766345	27766345	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:27766345G>A	ENST00000451261.2	+	5	1732	c.1333G>A	c.(1333-1335)Gat>Aat	p.D445N		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						CAATGATGACGATATTTACCT	0.423000													14	44					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55953799	55953799	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:55953799G>A	ENST00000263923.4	-	27	3932	c.3637C>T	c.(3637-3639)Cat>Tat	p.H1213Y	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1213					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TTGTCATAATGGAATTTGGGG	0.507000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			12	51					0	0	1	0	0
KIF1C	10749	broad.mit.edu	37	17	4927425	4927425	+	Missense_Mutation	SNP	G	G	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:4927425G>T	ENST00000320785.5	+	23	3648	c.3291G>T	c.(3289-3291)aaG>aaT	p.K1097N		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	1097					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CTGACCTCAAGGAGAGTGGGG	0.672000													21	69					3.08376e-08	3.14239e-08	1	1	0
PCDHGB6	56100	broad.mit.edu	37	5	140788545	140788545	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:140788545C>T	ENST00000520790.1	+	1	776	c.776C>T	c.(775-777)tCc>tTc	p.S259F	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCCTGGGTCCCCTGTGTTG	0.468000													13	41					0	0	1	0	0
PTDSS2	81490	broad.mit.edu	37	11	489424	489424	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:489424C>T	ENST00000308020.5	+	9	1055	c.879C>T	c.(877-879)ttC>ttT	p.F293F		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	293						integral to membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	GGATCGCCTTCCAGTTCACGC	0.652000													8	28					0	0	1	0	0
C22orf42	150297	broad.mit.edu	37	22	32550255	32550255	+	Missense_Mutation	SNP	C	C	T	rs143164067		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr22:32550255C>T	ENST00000382097.3	-	2	355	c.283G>A	c.(283-285)Ggg>Agg	p.G95R		NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	95										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						GGCCAAATCCCGTGCCGTCTC	0.368000													33	106					0	0	1	0	0
CLPS	1208	broad.mit.edu	37	6	35765004	35765004	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:35765004G>A	ENST00000259938.2	-	1	84	c.62C>T	c.(61-63)cCc>cTc	p.P21L		NM_001832.3	NP_001823.1	P04118	COL_HUMAN	colipase, pancreatic	21					lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process	extracellular region				large_intestine(2)|lung(2)|prostate(1)	5						GATCCCCCGGGGGCCAGGAGC	0.587000													17	115					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108609540	108609540	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:108609540G>A	ENST00000264047.2	+	4	681	c.405G>A	c.(403-405)ctG>ctA	p.L135L	SLC5A7_ENST00000540517.1_Silent_p.L30L|SLC5A7_ENST00000409059.1_Silent_p.L135L	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	135					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTCCTGCACTGATGGGAGAAA	0.443000													29	52					0	0	1	0	0
GABPA	2551	broad.mit.edu	37	21	27121396	27121396	+	Missense_Mutation	SNP	C	C	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr21:27121396C>G	ENST00000354828.3	+	4	799	c.272C>G	c.(271-273)aCt>aGt	p.T91S	GABPA_ENST00000400075.3_Missense_Mutation_p.T91S|GABPA_ENST00000487266.1_3'UTR	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	91					positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						ACAGATGGAACTGTACAGCTT	0.303000													13	46					0	0	1	0	0
TRDV1	28518	broad.mit.edu	37	14	22564750	22564750	+	RNA	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:22564750C>T	ENST00000390452.2	+	0	219																											AGATGATTTTCCTTATTCGCC	0.428000													32	87					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152541388	152541388	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:152541388G>A	ENST00000427231.2	-	28	2941	c.2739C>T	c.(2737-2739)agC>agT	p.S913S	NEB_ENST00000603639.1_Silent_p.S913S|NEB_ENST00000172853.10_Silent_p.S913S|NEB_ENST00000397345.3_Silent_p.S913S|NEB_ENST00000604864.1_Silent_p.S913S|NEB_ENST00000409198.1_Silent_p.S913S	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	913					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	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)		AATCAACGTCGCTGGCAATTG	0.443000													6	34					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47970731	47970731	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:47970731G>A	ENST00000289672.2	-	6	757	c.707C>T	c.(706-708)cCg>cTg	p.P236L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	236					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ATGTGAAATCGGCCACAGGGG	0.597000													9	41					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34649228	34649228	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:34649228A>G	ENST00000537011.1	+	8	3401	c.3019A>G	c.(3019-3021)Acc>Gcc	p.T1007A	NUTM1_ENST00000438749.3_Missense_Mutation_p.T997A|NUTM1_ENST00000333756.4_Missense_Mutation_p.T979A					NUT midline carcinoma, family member 1																		TAGAAGGGGAACCAGGAATGC	0.478000													15	31					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42471468	42471468	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:42471468G>A	ENST00000545399.1	-	22	3138	c.2985C>T	c.(2983-2985)ttC>ttT	p.F995F	ATP1A3_ENST00000302102.5_Silent_p.F982F|ATP1A3_ENST00000602133.1_Silent_p.F952F|ATP1A3_ENST00000543770.1_Silent_p.F993F	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	982					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AACTGTAGGGGAAGGCACAGA	0.637000													17	25					0	0	1	0	0
CDKL4	344387	broad.mit.edu	37	2	39431685	39431685	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:39431685C>T	ENST00000378803.1	-	4	436	c.437G>A	c.(436-438)gGg>gAg	p.G146E	CDKL4_ENST00000395035.3_Missense_Mutation_p.G146E	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	146	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TTGTGCAAACCCGAAGTCACA	0.279000													8	36					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110420353	110420353	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:110420353G>A	ENST00000378402.5	+	18	1993	c.1889G>A	c.(1888-1890)gGa>gAa	p.G630E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	630					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAAACCAAAGGAAAACCCAAC	0.403000										HNSCC(38;0.096)			18	55					0	0	1	0	0
PRSS55	203074	broad.mit.edu	37	8	10396060	10396060	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:10396060G>A	ENST00000328655.3	+	5	856	c.816G>A	c.(814-816)tgG>tgA	p.W272*	PRSS55_ENST00000522210.1_Intron|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	272	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						TCATAAGCTGGGGAAAGAGCT	0.577000													20	80					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24105562	24105562	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:24105562C>T	ENST00000303531.7	+	7	917	c.765C>T	c.(763-765)ttC>ttT	p.F255F	PRKCB_ENST00000321728.7_Silent_p.F255F|PRKCB_ENST00000482000.1_3'UTR	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	255	C2.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GGAATGACTTCATGGGATCTT	0.423000													24	87					0	0	1	0	0
RMND1	55005	broad.mit.edu	37	6	151766735	151766735	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:151766735T>C	ENST00000367303.4	-	2	334	c.212A>G	c.(211-213)aAc>aGc	p.N71S	RMND1_ENST00000491268.1_5'UTR	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	71										central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		CTTTTTTTGGTTCATTTCCAG	0.413000													67	164					0	0	1	0	0
POLL	27343	broad.mit.edu	37	10	103340153	103340153	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:103340153G>A	ENST00000370162.3	-	8	1709	c.1215C>T	c.(1213-1215)gcC>gcT	p.A405A	POLL_ENST00000299206.4_Silent_p.A405A|POLL_ENST00000370158.3_Silent_p.A130A|POLL_ENST00000370172.1_Silent_p.A317A|DPCD_ENST00000470165.1_Intron|POLL_ENST00000456836.2_Silent_p.A142A|POLL_ENST00000463515.1_5'UTR|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370169.1_Silent_p.A405A|POLL_ENST00000339310.3_Silent_p.A128A|POLL_ENST00000370168.3_Silent_p.A78A	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	405					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CAGAGTTAAAGGCCTGGGCTG	0.607000								DNA polymerases (catalytic subunits)					11	53					0	0	1	0	0
ANKRD24	170961	broad.mit.edu	37	19	4219687	4219687	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:4219687G>A	ENST00000600132.1	+	19	3379	c.3103G>A	c.(3103-3105)Gaa>Aaa	p.E1035K	ANKRD24_ENST00000262970.5_Missense_Mutation_p.E1125K|ANKRD24_ENST00000318934.4_Missense_Mutation_p.E1035K	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1035										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GACCGAGGCGGAAAGGGCTCG	0.667000													15	58					0	0	1	0	0
EVX2	344191	broad.mit.edu	37	2	176948377	176948377	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:176948377G>A	ENST00000308618.4	-	1	264	c.128C>T	c.(127-129)tCg>tTg	p.S43L		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	43						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CGGGTGCTGCGAATTTTCCAG	0.602000													9	70					0	0	1	0	0
RPL6	6128	broad.mit.edu	37	12	112846062	112846062	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:112846062C>T	ENST00000424576.2	-	3	503	c.318G>A	c.(316-318)gtG>gtA	p.V106V	RPL6_ENST00000202773.9_Silent_p.V106V	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	106					endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome			cervix(1)|large_intestine(6)|lung(3)	10						GAAGTTTAACCACCCGGGTAC	0.393000													13	68					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84609948	84609948	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:84609948G>A	ENST00000344803.2	+	4	4610	c.4563G>A	c.(4561-4563)agG>agA	p.R1521R		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TGCCCCACAGGAAGCCTGTGC	0.537000													5	25					0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89885593	89885593	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:89885593G>A	ENST00000534061.1	+	6	967	c.737G>A	c.(736-738)gGa>gAa	p.G246E	NAALAD2_ENST00000375944.3_Missense_Mutation_p.G246E|NAALAD2_ENST00000321955.4_Missense_Mutation_p.G246E|NAALAD2_ENST00000525171.1_Missense_Mutation_p.G246E	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	246					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GCCCAGAGAGGAAATGTGTTA	0.453000													14	50					0	0	1	0	0
MAPK6	5597	broad.mit.edu	37	15	52356226	52356226	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:52356226C>T	ENST00000261845.5	+	6	2002	c.1195C>T	c.(1195-1197)Cga>Tga	p.R399*	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	399					cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		AGTTGATCCCCGAAAATATTT	0.408000													30	74					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87680300	87680300	+	Nonsense_Mutation	SNP	A	A	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:87680300A>C	ENST00000320005.5	-	5	637	c.590T>G	c.(589-591)tTa>tGa	p.L197*		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	197					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GTACTCTGTTAAAGGCATCTT	0.413000													82	121					0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18675954	18675954	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:18675954C>T	ENST00000308799.4	+	11	2542	c.2323C>T	c.(2323-2325)Ccc>Tcc	p.P775S	FBXW10_ENST00000395665.4_Missense_Mutation_p.P746S|FBXW10_ENST00000395667.1_Missense_Mutation_p.P746S|FBXW10_ENST00000301938.4_Missense_Mutation_p.P693S			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	746										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						AGGCAAACCTCCCAAGTCCCG	0.468000													45	161					0	0	1	0	0
KDM1A	23028	broad.mit.edu	37	1	23381648	23381648	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:23381648C>T	ENST00000400181.4	+	6	981	c.877C>T	c.(877-879)Cta>Tta	p.L293L	KDM1A_ENST00000542151.1_Silent_p.L293L|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000356634.3_Silent_p.L273L	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	273					blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GATAAAACCCCTACCAAGTAA	0.373000													80	100					0	0	1	0	0
PLA2G12B	84647	broad.mit.edu	37	10	74700940	74700940	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:74700940G>A	ENST00000373032.3	-	3	545	c.453C>T	c.(451-453)gtC>gtT	p.V151V		NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB	151					lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					CCACTTTGGAGACAAAGCCCA	0.498000													29	90					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656791	40656791	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:40656791C>T	ENST00000406785.1	-	2	819	c.630G>A	c.(628-630)tgG>tgA	p.W210*	SLC8A1_ENST00000332839.4_Nonsense_Mutation_p.W210*|SLC8A1_ENST00000408028.2_Nonsense_Mutation_p.W210*|SLC8A1_ENST00000405901.3_Nonsense_Mutation_p.W210*|SLC8A1_ENST00000405269.1_Nonsense_Mutation_p.W210*|SLC8A1_ENST00000403092.1_Nonsense_Mutation_p.W210*|SLC8A1_ENST00000402441.1_Nonsense_Mutation_p.W210*|SLC8A1_ENST00000542756.1_Nonsense_Mutation_p.W210*|SLC8A1_ENST00000542024.1_Nonsense_Mutation_p.W210*|SLC8A1_ENST00000406391.2_Nonsense_Mutation_p.W210*			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	210					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CAAAGATGCTCCAGGCTGCTG	0.433000													11	45					0	0	1	0	0
PDE8A	5151	broad.mit.edu	37	15	85666319	85666319	+	Silent	SNP	G	G	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:85666319G>T	ENST00000310298.4	+	20	2232	c.1980G>T	c.(1978-1980)ggG>ggT	p.G660G	PDE8A_ENST00000394553.1_Silent_p.G660G|PDE8A_ENST00000339708.5_Silent_p.G614G|PDE8A_ENST00000557957.1_Silent_p.G588G			O60658	PDE8A_HUMAN	phosphodiesterase 8A	660	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			TGCGCCAGGGGATTATCGACA	0.423000													16	76					1.5739e-10	1.60585e-10	1	1	0
PDLIM4	8572	broad.mit.edu	37	5	131607149	131607149	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:131607149C>T	ENST00000253754.3	+	5	724	c.660C>T	c.(658-660)gcC>gcT	p.A220A	P4HA2_ENST00000471826.1_Intron|PDLIM4_ENST00000379018.3_Silent_p.A220A|PDLIM4_ENST00000484620.1_3'UTR	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	220							protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCTAGAGGCCGGCGAGGGCG	0.692000													11	25					0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223567300	223567300	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:223567300C>T	ENST00000366875.3	+	1	586	c.483C>T	c.(481-483)ttC>ttT	p.F161F		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	161										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GTGGCACATTCAGGGTAGAAA	0.667000													13	11					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10079068	10079068	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:10079068C>T	ENST00000264828.3	-	59	4392	c.4307G>A	c.(4306-4308)gGa>gAa	p.G1436E		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1436	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CACAGGGTCTCCCTTGGGACC	0.607000													40	145					0	0	1	0	0
MB	4151	broad.mit.edu	37	22	36003385	36003385	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr22:36003385C>T	ENST00000397326.2	-	3	622	c.424G>A	c.(424-426)Gac>Aac	p.D142N	MB_ENST00000359787.1_Missense_Mutation_p.D142N|MB_ENST00000397328.1_Missense_Mutation_p.D142N|MB_ENST00000401702.1_Missense_Mutation_p.D87N|MB_ENST00000406324.1_Missense_Mutation_p.D142N	NM_005368.2	NP_005359.1	P02144	MYG_HUMAN	myoglobin	142							heme binding|oxygen transporter activity			lung(1)	1						GAGGCCATGTCCTTCCGGAAC	0.637000													7	39					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141544026	141544026	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:141544026C>T	ENST00000442267.2	-	21	3198	c.3124G>A	c.(3124-3126)Gaa>Aaa	p.E1042K		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1042						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TTGGGGTCTTCGCTGAACATG	0.527000													4	8					0	0	1	0	0
NMS	129521	broad.mit.edu	37	2	101097591	101097591	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:101097591C>T	ENST00000376865.1	+	8	383	c.376C>T	c.(376-378)Cac>Tac	p.H126Y		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	126					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						GTTGCAGGATCACACTGCGAC	0.423000													34	115					0	0	1	0	0
C15orf27	123591	broad.mit.edu	37	15	76430089	76430089	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:76430089C>T	ENST00000388942.3	+	3	356	c.80C>T	c.(79-81)tCc>tTc	p.S27F		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	27						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						GAGATCATCTCCCAACAAGTA	0.502000													33	113					0	0	1	0	0
ROM1	6094	broad.mit.edu	37	11	62381081	62381081	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:62381081G>A	ENST00000278833.3	+	1	869	c.328G>A	c.(328-330)Ggt>Agt	p.G110S	ROM1_ENST00000534093.1_Intron	NM_000327.3	NP_000318.1	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	110					cell adhesion|visual perception	integral to plasma membrane				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						TGGCACGGCTGGTGGGGGGGG	0.682000													13	18					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28541494	28541494	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:28541494C>T	ENST00000452236.2	-	4	2789	c.2172G>A	c.(2170-2172)ggG>ggA	p.G724G		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	724					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ttttggttttcccttcttcag	0.338000													13	27					0	0	1	0	0
HFE2	148738	broad.mit.edu	37	1	145415587	145415587	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:145415587C>T	ENST00000336751.5	+	3	644	c.406C>T	c.(406-408)Cca>Tca	p.P136S	HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_Missense_Mutation_p.P23S	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	136					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ccccgcccTTCCAGGCGCGGG	0.682000													11	18					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143028643	143028643	+	Splice_Site	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:143028643G>A	ENST00000343257.2	+	10	1151		c.e10-1			NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1						muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TACACCCTCAGGATTTGCTGT	0.473000													15	63					0	0	1	0	0
STOX2	56977	broad.mit.edu	37	4	184931511	184931511	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:184931511G>A	ENST00000308497.4	+	3	2955	c.1520G>A	c.(1519-1521)gGg>gAg	p.G507E	STOX2_ENST00000438269.1_Missense_Mutation_p.G507E	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	507					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		TCTTCTCTAGGGACGCCGGAA	0.547000													4	15					0	0	1	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751397	140751397	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:140751397C>T	ENST00000576222.1	+	1	1567	c.1436C>T	c.(1435-1437)cCc>cTc	p.P479L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTCGGATCCCGACTTGGGA	0.612000													24	111					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45697426	45697426	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:45697426G>A	ENST00000297323.7	+	6	1271	c.1249G>A	c.(1249-1251)Gac>Aac	p.D417N	ADCY1_ENST00000432715.1_Missense_Mutation_p.D192N	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	417					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GTGGCAGTACGACGTGTGGTC	0.617000													8	23					0	0	1	0	0
ATP5O	539	broad.mit.edu	37	21	35281407	35281407	+	Missense_Mutation	SNP	G	G	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr21:35281407G>T	ENST00000290299.2	-	4	523	c.307C>A	c.(307-309)Ccc>Acc	p.P103T	AP000304.12_ENST00000429238.1_Missense_Mutation_p.S51Y	NM_001697.2	NP_001688.1			ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit											large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	5						GTAGTGAGGGGAGAGAACCTC	0.433000													19	81					8.34094e-07	8.43536e-07	1	1	0
RILP	83547	broad.mit.edu	37	17	1552937	1552937	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:1552937C>T	ENST00000301336.6	-	1	434	c.162G>A	c.(160-162)ctG>ctA	p.L54L		NM_031430.2	NP_113618.2	Q96NA2	RILP_HUMAN	Rab interacting lysosomal protein	54					endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTAGCGGCACCAGCCCGGCCG	0.736000													2	8					0	0	1	0	0
RWDD4	201965	broad.mit.edu	37	4	184562617	184562617	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:184562617C>T	ENST00000326397.5	-	8	811	c.539G>A	c.(538-540)aGc>aAc	p.S180N	RWDD4_ENST00000327570.9_Missense_Mutation_p.S179N|RWDD4_ENST00000510968.1_Missense_Mutation_p.S85N|RWDD4_ENST00000512740.1_Missense_Mutation_p.S117N	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN	RWD domain containing 4	180										large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						GCCAGTTTTGCTTAACTATAA	0.328000													25	105					0	0	1	0	0
IL1A	3552	broad.mit.edu	37	2	113537239	113537239	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:113537239G>A	ENST00000263339.3	-	5	479	c.324C>T	c.(322-324)atC>atT	p.I108I		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	108					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			breast(2)|large_intestine(1)|lung(9)	12						TAGGCTTGATGATTTCTAAAA	0.388000													22	86					0	0	1	0	0
APOBEC3F	200316	broad.mit.edu	37	22	39439055	39439055	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr22:39439055C>T	ENST00000308521.5	+	2	488	c.131C>T	c.(130-132)cCc>cTc	p.P44L	APOBEC3G_ENST00000452957.2_Intron|APOBEC3F_ENST00000381565.2_Missense_Mutation_p.P44L|APOBEC3F_ENST00000491387.1_3'UTR	NM_145298.5	NP_660341.2	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	44					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					ACAAAGGGTCCCTCAAGGCCC	0.502000													19	41					0	0	1	0	0
MTMR7	9108	broad.mit.edu	37	8	17218782	17218782	+	Splice_Site	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:17218782C>T	ENST00000180173.5	-	4	346	c.310_splice	c.e4-1	p.V104_splice	MTMR7_ENST00000521857.1_Splice_Site_p.V104_splice	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	104							protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CCTCATATTTCACTGCAAGAA	0.443000													37	72					0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16593955	16593955	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:16593955C>T	ENST00000443444.2	+	1	381	c.241C>T	c.(241-243)Ctt>Ttt	p.L81F	CCDC144A_ENST00000340621.5_Missense_Mutation_p.L81F|CCDC144A_ENST00000399273.1_Missense_Mutation_p.L81F|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.L81F|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000360524.8_Missense_Mutation_p.L81F|CCDC144A_ENST00000456009.1_Missense_Mutation_p.L81F			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	81																	CCTGGAAGATCTTGGCGAGCT	0.632000													47	161					0	0	1	0	0
CCT7	10574	broad.mit.edu	37	2	73466833	73466833	+	Silent	SNP	G	G	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:73466833G>T	ENST00000258091.5	+	2	210	c.69G>T	c.(67-69)gtG>gtT	p.V23V	CCT7_ENST00000473786.1_Intron|CCT7_ENST00000538797.1_5'UTR|CCT7_ENST00000537131.1_5'UTR|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000540468.1_Intron|CCT7_ENST00000539919.1_5'UTR	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	23					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						CCCAGCTTGTGAGTAACATCA	0.468000													7	32					0.000157383	0.000158368	1	1	0
TNRC18	84629	broad.mit.edu	37	7	5430119	5430119	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:5430119C>T	ENST00000399537.4	-	4	832	c.484G>A	c.(484-486)Gga>Aga	p.G162R	TNRC18_ENST00000430969.1_Missense_Mutation_p.G162R|TNRC18_ENST00000399434.2_Missense_Mutation_p.G88R			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	162							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GTCTTACCTCCTCCTGGCCCC	0.652000													6	23					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129149233	129149233	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:129149233C>T	ENST00000540052.1	+	3	2529	c.2485C>T	c.(2485-2487)Ctg>Ttg	p.L829L	BCORL1_ENST00000359304.2_Silent_p.L829L|BCORL1_ENST00000303743.5_Silent_p.L829L|BCORL1_ENST00000218147.7_Silent_p.L829L	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	829					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CACCCAGGTCCTGCCTGTTGG	0.602000													26	81					0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91769606	91769606	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:91769606G>A	ENST00000394232.1	+	2	583	c.113G>A	c.(112-114)gGc>gAc	p.G38D	SV2B_ENST00000330276.4_Missense_Mutation_p.G38D|SV2B_ENST00000545111.2_Intron|SV2B_ENST00000557291.1_Intron	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	38					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GTCACCGAAGGCCATGATGAG	0.532000													14	58					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34401533	34401533	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:34401533C>T	ENST00000373381.4	-	4	716	c.540G>A	c.(538-540)ggG>ggA	p.G180G		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	140	Sushi 1.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCCTGGGTTCCCACATGTGT	0.597000													17	57					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15276261	15276261	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:15276261G>A	ENST00000263388.2	-	31	5808	c.5733C>T	c.(5731-5733)atC>atT	p.I1911I		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1911					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGGCCGCCAGGATCAGTGCCG	0.572000													11	41					0	0	1	0	0
DHODH	1723	broad.mit.edu	37	16	72055184	72055184	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:72055184G>A	ENST00000572887.1	+	5	856	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	DHODH_ENST00000219240.4_Missense_Mutation_p.A227T|DHODH_ENST00000573922.1_Intron			Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	227					'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	TCAGGGAAAGGCCGAGCTGCG	0.682000													3	14					0	0	1	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150128401	150128401	+	Splice_Site	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:150128401G>A	ENST00000369124.4	+	3	596		c.e3+1		PLEKHO1_ENST00000369126.1_Splice_Site|PLEKHO1_ENST00000025469.6_Splice_Site|PLEKHO1_ENST00000479194.1_Splice_Site	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1							cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CGGTAACACGGTATGTTTCTC	0.522000													32	45					0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33388771	33388771	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:33388771T>C	ENST00000242067.6	+	13	1942	c.1421T>C	c.(1420-1422)tTt>tCt	p.F474S	BBS9_ENST00000396127.2_Missense_Mutation_p.F474S|BBS9_ENST00000354265.4_Missense_Mutation_p.F474S|BBS9_ENST00000350941.3_Missense_Mutation_p.F474S|BBS9_ENST00000355070.2_Missense_Mutation_p.F474S	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	474					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			CAGTTCACCTTTGAATTTATG	0.333000									Bardet-Biedl syndrome				22	64					0	0	1	0	0
GGT5	2687	broad.mit.edu	37	22	24621549	24621549	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr22:24621549C>T	ENST00000327365.4	-	9	1717	c.1301G>A	c.(1300-1302)cGa>cAa	p.R434Q	GGT5_ENST00000263112.7_Missense_Mutation_p.R402Q|GGT5_ENST00000418439.2_Missense_Mutation_p.R357Q|GGT5_ENST00000398292.3_Missense_Mutation_p.R434Q	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	434					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CCGGGGGCATCGCTCGCATAA	0.647000													9	38					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143042803	143042803	+	Missense_Mutation	SNP	C	C	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:143042803C>G	ENST00000343257.2	+	17	2207	c.2120C>G	c.(2119-2121)tCc>tGc	p.S707C		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	707					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CGGCCCGAGTCCTTCGCCTTT	0.667000											OREG0018402	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	4					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103070049	103070049	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:103070049G>A	ENST00000375735.2	+	49	8076	c.7932G>A	c.(7930-7932)ctG>ctA	p.L2644L	DYNC2H1_ENST00000398093.3_Silent_p.L2644L|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2644	AAA 4 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATAGAGTGCTGAGTTTCCCTG	0.423000													7	23					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215815680	215815680	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:215815680G>A	ENST00000272895.7	-	45	6994	c.6775C>T	c.(6775-6777)Ctc>Ttc	p.L2259F	ABCA12_ENST00000389661.4_Missense_Mutation_p.L1941F|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2259	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTCTTTGTGAGACAATAAAGT	0.408000													39	112					0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131261452	131261452	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:131261452C>T	ENST00000512055.1	-	19	3614	c.1488G>A	c.(1486-1488)gaG>gaA	p.E496E	CPNE4_ENST00000429747.1_Silent_p.E496E|CPNE4_ENST00000511604.1_Silent_p.E496E|CPNE4_ENST00000502818.1_Silent_p.E514E|CPNE4_ENST00000512332.1_Silent_p.E514E			Q96A23	CPNE4_HUMAN	copine IV	496	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						GAAGAACAGGCTCTCCCTTGG	0.507000													26	82					0	0	1	0	0
GABBR1	2550	broad.mit.edu	37	6	29574966	29574966	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:29574966A>T	ENST00000377034.4	-	17	2357	c.2022T>A	c.(2020-2022)ttT>ttA	p.F674L	GABBR1_ENST00000355973.3_Missense_Mutation_p.F557L|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377016.4_Missense_Mutation_p.F612L|GABBR1_ENST00000377012.4_Missense_Mutation_p.F557L	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	674					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	AGCCCAGACTAAAGCCCAGGC	0.562000													19	68					0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248790366	248790366	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:248790366C>T	ENST00000330803.2	-	1	125	c.64G>A	c.(64-66)Ggg>Agg	p.G22R		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AATACAATCCCGGCAGCCTCA	0.532000													18	67					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232538146	232538146	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:232538146G>A	ENST00000366630.1	-	21	5372	c.5014C>T	c.(5014-5016)Ctt>Ttt	p.L1672F	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.L1672F|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.L728F			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1672					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ACCTTCCGAAGGTCGGTCTGG	0.398000													24	25					0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541282	55541282	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:55541282C>T	ENST00000361760.1	+	1	369	c.369C>T	c.(367-369)gaC>gaT	p.D123D		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGGCTTATGACCGTTTTGTGG	0.428000													40	174					0	0	1	0	0
TAP2	6891	broad.mit.edu	37	6	32805546	32805546	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:32805546G>A	ENST00000374897.2	-	2	596	c.465C>T	c.(463-465)gcC>gcT	p.A155A	TAP2_ENST00000374899.4_Silent_p.A155A|TAP2_ENST00000452392.2_Silent_p.A155A	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	155	ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										GGAAGAAGAAGGCGGCAACGA	0.552000													15	58					0	0	1	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21555551	21555551	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:21555551C>T	ENST00000298694.4	+	21	4443	c.4316C>T	c.(4315-4317)cCg>cTg	p.P1439L	ARHGEF40_ENST00000298693.3_Intron			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	1439					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GGCCTTTCGCCGGGAGCCTGC	0.697000													20	58					0	0	1	0	0
ENPP5	59084	broad.mit.edu	37	6	46133237	46133237	+	Missense_Mutation	SNP	T	T	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:46133237T>G	ENST00000371383.2	-	4	1153	c.893A>C	c.(892-894)aAa>aCa	p.K298T	ENPP5_ENST00000230565.3_Missense_Mutation_p.K298T|ENPP5_ENST00000492313.1_5'UTR			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	298						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						AACGTCTTCTTTTTTGTAAAC	0.388000													40	139					0	0	1	0	0
GBP7	388646	broad.mit.edu	37	1	89607244	89607244	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:89607244C>T	ENST00000294671.2	-	9	1591	c.1453G>A	c.(1453-1455)Gag>Aag	p.E485K		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	485						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		ATGGCCTTCTCTCCAGCAGTG	0.507000													49	57					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121215771	121215771	+	Missense_Mutation	SNP	G	G	A	rs142688084	byFrequency	TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:121215771G>A	ENST00000264233.5	-	14	2290	c.2162C>T	c.(2161-2163)aCc>aTc	p.T721I		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	721					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CACAAGACTGGTGAAAAACCT	0.388000								DNA polymerases (catalytic subunits)					11	57					0	0	1	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162708	33162708	+	RNA	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:33162708G>A	ENST00000510327.1	-	0	346																											AACAAAAAACGATTTAAACAA	0.468000													3	8					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61831691	61831691	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:61831691G>A	ENST00000280772.1	-	37	9139	c.8948C>T	c.(8947-8949)tCg>tTg	p.S2983L	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2983					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGGAAATGCCGACTGTTCACA	0.418000													22	67					0	0	1	0	0
P2RY12	64805	broad.mit.edu	37	3	151055902	151055902	+	Silent	SNP	T	T	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:151055902T>A	ENST00000302632.3	-	3	1031	c.732A>T	c.(730-732)gtA>gtT	p.V244V	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	244					platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	AAATAAAGAATACAGCAATGA	0.413000													31	56					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr21:14414902G>A	ENST00000507941.1	+	0	95																											CCAGCTTGACGTCCTTGATGG	0.443000													8	41					0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38643619	38643619	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:38643619G>A	ENST00000254051.6	-	4	1115	c.957C>T	c.(955-957)agC>agT	p.S319S		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	319	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CTGAGCCAAGGCTGTGGAGGC	0.587000													15	43					0	0	1	0	0
LZTS1	11178	broad.mit.edu	37	8	20110389	20110389	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:20110389G>A	ENST00000381569.1	-	3	1410	c.1053C>T	c.(1051-1053)agC>agT	p.S351S	LZTS1_ENST00000522290.1_Silent_p.S351S|LZTS1_ENST00000265801.6_Silent_p.S351S			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	351					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CCTTCATGAGGCTCTCGAGCT	0.652000													22	31					0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	619080	619080	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:619080C>T	ENST00000358353.3	-	14	1801	c.1479G>A	c.(1477-1479)acG>acA	p.T493T	CDHR5_ENST00000397542.2_Silent_p.T493T|CDHR5_ENST00000349570.7_Intron			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	493					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CAGAGCTGGTCGTGGAGGGTC	0.677000													12	32					0	0	1	0	0
NNT	23530	broad.mit.edu	37	5	43613102	43613102	+	Silent	SNP	T	T	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:43613102T>C	ENST00000264663.5	+	3	465	c.244T>C	c.(244-246)Ttg>Ctg	p.L82L	NNT_ENST00000512996.2_5'UTR|NNT_ENST00000344920.4_Silent_p.L82L	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	82					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	TGTTCAGAACTTGGTCAAGCA	0.473000													50	156					0	0	1	0	0
FXYD1	5348	broad.mit.edu	37	19	35633400	35633400	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:35633400G>A	ENST00000588081.1	+	5	289	c.231G>A	c.(229-231)gaG>gaA	p.E77E	FXYD1_ENST00000589209.1_Silent_p.E77E|FXYD1_ENST00000588715.1_Silent_p.E77E|FXYD1_ENST00000588607.1_Silent_p.E77E|FXYD1_ENST00000455515.2_Silent_p.E77E|FXYD1_ENST00000351325.4_Silent_p.E77E|CTD-2527I21.4_ENST00000592174.1_RNA			O00168	PLM_HUMAN	FXYD domain containing ion transport regulator 1	77					muscle contraction	chloride channel complex|integral to plasma membrane	chloride channel activity			lung(3)	3	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)			ATGAAGAGGAGGGAACTTTCC	0.622000													15	77					0	0	1	0	0
LEFTY1	10637	broad.mit.edu	37	1	226074672	226074672	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:226074672G>A	ENST00000272134.5	-	4	935	c.856C>T	c.(856-858)Ccg>Tcg	p.P286S	RP4-559A3.7_ENST00000432920.2_3'UTR	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	286					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					AGGAAGCCCGGGGGCTCCAGC	0.662000													5	20					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119106834	119106834	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:119106834C>T	ENST00000328252.3	+	14	3993	c.3624C>T	c.(3622-3624)ttC>ttT	p.F1208F	PAPPA_ENST00000534838.1_Silent_p.F246F	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1208					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GCGTGCACTTCGCATGTGAGA	0.532000													31	113					0	0	1	0	0
TOX	9760	broad.mit.edu	37	8	59727942	59727942	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:59727942G>A	ENST00000361421.1	-	7	1567	c.1347C>T	c.(1345-1347)ctC>ctT	p.L449L		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	449						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CCTGCATGGGGAGCTGGTTCC	0.592000													14	57					0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101557015	101557015	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:101557015C>T	ENST00000370449.4	+	7	907	c.794C>T	c.(793-795)tCc>tTc	p.S265F	ABCC2_ENST00000370434.1_Missense_Mutation_p.S265F	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	265						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GAGAAGAGCTCCCagcagaac	0.517000													9	36					0	0	1	0	0
ATP6AP1L	92270	broad.mit.edu	37	5	81608652	81608652	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:81608652C>T	ENST00000380167.4	+	9	1679	c.354C>T	c.(352-354)gtC>gtT	p.V118V	ATP6AP1L_ENST00000439350.1_Silent_p.V118V|ATP6AP1L_ENST00000508366.1_3'UTR			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	118					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						TGTGGGAGGTCACTTTTATTG	0.507000											OREG0016689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	58					0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34825568	34825568	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:34825568C>T	ENST00000192788.5	+	13	1812	c.1641C>T	c.(1639-1641)ctC>ctT	p.L547L	UHRF1BP1_ENST00000452449.2_Silent_p.L547L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	547										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TCAGTTTGCTCTGGGGAAACC	0.423000													40	101					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119109484	119109484	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:119109484G>A	ENST00000328252.3	+	15	4329	c.3960G>A	c.(3958-3960)ttG>ttA	p.L1320L	PAPPA_ENST00000534838.1_Silent_p.L358L	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1320	Sushi 2.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTGCACAATTGAAAGGTATCA	0.537000													17	51					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47831650	47831650	+	Missense_Mutation	SNP	C	C	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr21:47831650C>G	ENST00000359568.5	+	28	5770	c.5663C>G	c.(5662-5664)tCt>tGt	p.S1888C	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1888					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCGGCCCACTCTGCCGAGCTG	0.667000													11	35					0	0	1	0	0
RFX2	5990	broad.mit.edu	37	19	6040081	6040081	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:6040081G>A	ENST00000303657.5	-	5	581	c.432C>T	c.(430-432)atC>atT	p.I144I	RFX2_ENST00000592546.1_Silent_p.I144I|RFX2_ENST00000359161.3_Silent_p.I144I	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CGCTGGAGACGATGGGGCTCC	0.692000													10	22					0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44052942	44052942	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:44052942G>A	ENST00000306006.6	-	2	1238	c.586C>T	c.(586-588)Cca>Tca	p.P196S	ZNF239_ENST00000374446.2_Missense_Mutation_p.P196S|ZNF239_ENST00000535642.1_Missense_Mutation_p.P196S|ZNF239_ENST00000426961.1_Missense_Mutation_p.P196S	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TTCTCATATGGATGACCATCT	0.438000													17	96					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119739977	119739977	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:119739977G>A	ENST00000541757.1	+	13	1200	c.820G>A	c.(820-822)Ggg>Agg	p.G274R	MARCO_ENST00000327097.4_Missense_Mutation_p.G352R			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	352	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGGAAGCAAAGGGGACACAGG	0.582000													41	142					0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	9943610	9943610	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:9943610C>T	ENST00000506583.1	-	8	871	c.654G>A	c.(652-654)ctG>ctA	p.L218L	SLC2A9_ENST00000264784.3_Silent_p.L247L|SLC2A9_ENST00000309065.3_Silent_p.L218L			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	247					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						AGGGAAGGCTCAGCAGCTGGA	0.582000													12	27					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912994	77912994	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:77912994G>A	ENST00000321110.1	-	2	1219	c.924C>T	c.(922-924)ttC>ttT	p.F308F		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	308							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GCACAGGTATGAAACTTTCAC	0.478000													5	16					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692713	135692713	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:135692713G>A	ENST00000513104.1	-	2	645	c.363C>T	c.(361-363)atC>atT	p.I121I	TRPC7_ENST00000355180.3_Silent_p.I121I|TRPC7_ENST00000426057.2_Silent_p.I121I	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	121					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGGCCTCCACGATGCGCACAT	0.657000													16	44					0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197402345	197402345	+	Missense_Mutation	SNP	A	A	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:197402345A>C	ENST00000273582.5	-	20	3098	c.2553T>G	c.(2551-2553)aaT>aaG	p.N851K	KIAA0226_ENST00000296343.5_Missense_Mutation_p.N896K	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	896					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TGTCATCCTCATTCTGACAGA	0.547000													60	201					0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101557016	101557016	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:101557016C>T	ENST00000370449.4	+	7	908	c.795C>T	c.(793-795)tcC>tcT	p.S265S	ABCC2_ENST00000370434.1_Silent_p.S265S	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	265						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AGAAGAGCTCCCagcagaact	0.517000													9	34					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71444685	71444685	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:71444685C>T	ENST00000304743.2	+	6	2077	c.1631C>T	c.(1630-1632)cCt>cTt	p.P544L	PCNX_ENST00000439984.3_Missense_Mutation_p.P544L|PCNX_ENST00000238570.5_Missense_Mutation_p.P544L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	544						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GATGTTCGACCTAAATCTTCT	0.463000													42	146					0	0	1	0	0
WDHD1	11169	broad.mit.edu	37	14	55448271	55448271	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:55448271G>A	ENST00000360586.3	-	16	2115	c.2050C>T	c.(2050-2052)Ccc>Tcc	p.P684S	WDHD1_ENST00000420358.2_Missense_Mutation_p.P561S|WDHD1_ENST00000421192.1_Missense_Mutation_p.P561S|WDHD1_ENST00000359167.4_Missense_Mutation_p.P202S	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	684						cytoplasm|nucleoplasm	DNA binding	p.P684S(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						AGTTGCTGGGGATTTTCATGG	0.368000													22	65					0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18943028	18943028	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:18943028G>A	ENST00000262803.5	+	1	282	c.10G>A	c.(10-12)Gag>Aag	p.E4K	UPF1_ENST00000599848.1_Missense_Mutation_p.E4K	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	4	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CATGAGCGTGGAGGCGTACGG	0.711000													9	36					0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109031471	109031471	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:109031471G>A	ENST00000478945.1	-	3	348	c.102C>T	c.(100-102)gaC>gaT	p.D34D		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	34						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCATATTTGCGTCATCTTTAA	0.413000													39	137					0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221451	5221451	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:5221451C>T	ENST00000321255.1	-	1	479	c.480G>A	c.(478-480)agG>agA	p.R160R		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAAAAAACTCCTACCTATTA	0.393000													22	88					0	0	1	0	0
TOX	9760	broad.mit.edu	37	8	59720330	59720330	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:59720330C>T	ENST00000361421.1	-	9	1777	c.1557G>A	c.(1555-1557)agG>agA	p.R519R		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	519						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GTGCTTTGTCCCTCTGCATGC	0.443000											OREG0018787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	62					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25433138	25433138	+	Splice_Site	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr13:25433138G>A	ENST00000255324.5	+	26	3662		c.e26-1		RNF17_ENST00000339524.3_Splice_Site|RNF17_ENST00000381921.1_Splice_Site	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17						multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CTTTTTTTCAGAATTTGAGCT	0.284000													6	15					0	0	1	0	0
TRAV9-2	28677	broad.mit.edu	37	14	22409795	22409795	+	RNA	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:22409795G>A	ENST00000390441.2	+	0	341																											TCCACTTGGAGAAAGGCTCAG	0.507000													15	62					0	0	1	0	0
HOXC5	3222	broad.mit.edu	37	12	54427267	54427267	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:54427267G>T	ENST00000312492.2	+	1	631	c.361G>T	c.(361-363)Gag>Tag	p.E121*	HOXC4_ENST00000303406.4_Intron|HOXC5_ENST00000512206.1_Intron	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN	homeobox C5	121					regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						GATCAAAGAGGAGCAGGCGCA	0.637000													3	10					0.115264	0.115408	1	1	0
PCDHGA3	56112	broad.mit.edu	37	5	140723673	140723673	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:140723673G>A	ENST00000253812.6	+	1	73	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCTGTGCGAAACAGGATC	0.567000											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	56	176					0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95372700	95372700	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:95372700G>A	ENST00000371447.3	+	1	356	c.218G>A	c.(217-219)gGg>gAg	p.G73E		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	73					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				CAGGAGGAGGGGGGCACCCCA	0.672000													10	38					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53563559	53563559	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:53563559G>A	ENST00000342160.3	-	78	12664	c.12207C>T	c.(12205-12207)atC>atT	p.I4069I	HUWE1_ENST00000262854.6_Silent_p.I4069I			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4069	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCTCTCGAGAGATGATCATAT	0.483000													28	51					0	0	1	0	0
IL1R1	3554	broad.mit.edu	37	2	102791057	102791057	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:102791057C>T	ENST00000410023.1	+	10	1320	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	IL1R1_ENST00000233946.3_Silent_p.F334F|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000409288.1_Silent_p.F334F|IL1R1_ENST00000409929.1_Silent_p.F334F|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409329.1_Silent_p.F334F|IL1R1_ENST00000424272.1_Silent_p.F334F			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	334					innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	TCACTAATTTCCAGAAGCACA	0.303000													12	29					0	0	1	0	0
C17orf104	284071	broad.mit.edu	37	17	42744143	42744143	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:42744143C>T	ENST00000409122.2	+	5	1006	c.864C>T	c.(862-864)taC>taT	p.Y288Y	C17orf104_ENST00000409464.1_Silent_p.Y122Y|C17orf104_ENST00000359945.3_Silent_p.Y288Y	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	288										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						TTGATATCTACCATTATGGAA	0.353000													10	33					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40913497	40913497	+	Missense_Mutation	SNP	T	T	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:40913497T>G	ENST00000346991.5	+	11	1503	c.1113T>G	c.(1111-1113)aaT>aaG	p.N371K	CASC5_ENST00000399668.2_Missense_Mutation_p.N345K|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	371	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AAACTCAGAATGCCATGGATG	0.328000													22	75					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113148336	113148336	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:113148336G>A	ENST00000401783.2	-	43	10415	c.10079C>T	c.(10078-10080)cCt>cTt	p.P3360L	SVEP1_ENST00000374469.1_Missense_Mutation_p.P3337L|SVEP1_ENST00000297826.5_Missense_Mutation_p.P1286L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3360	Sushi 33.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AATCACAAAAGGAACAGGGCA	0.408000													15	82					0	0	1	0	0
TMEM202	338949	broad.mit.edu	37	15	72690748	72690748	+	Splice_Site	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:72690748G>A	ENST00000341689.3	+	1	135	c.81_splice	c.e1+1	p.R27_splice	TMEM202_ENST00000567679.1_Splice_Site_p.R27_splice	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	27						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						AATACCAAAGGGTGAGGAGGT	0.433000													7	20					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	41978972	41978972	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:41978972C>T	ENST00000372584.1	-	7	6934	c.5920G>A	c.(5920-5922)Gaa>Aaa	p.E1974K	HIVEP3_ENST00000429157.2_Missense_Mutation_p.E1974K|HIVEP3_ENST00000372583.1_Missense_Mutation_p.E1974K|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E1974K|HIVEP3_ENST00000460604.1_5'UTR	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1974					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTGCCTGCTTCTTTGCTTGGG	0.617000													40	67					0	0	1	0	0
C4orf50	389197	broad.mit.edu	37	4	5969157	5969157	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:5969157C>T	ENST00000531445.1	-	5	1909	c.1863G>A	c.(1861-1863)atG>atA	p.M621I	C4orf50_ENST00000324058.5_Missense_Mutation_p.M147I			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	147										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						AAGCTGCCGTCATCTCAGACT	0.527000													28	78					0	0	1	0	0
CMTM7	112616	broad.mit.edu	37	3	32490966	32490966	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:32490966C>T	ENST00000334983.5	+	3	590	c.354C>T	c.(352-354)atC>atT	p.I118I	CMTM7_ENST00000349718.4_Intron	NM_138410.2	NP_612419.1	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing 7	118	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(2)	4						ACTATTTAATCGGTACCCTGC	0.542000													26	102					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112754998	112754998	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:112754998T>A	ENST00000295408.4	+	10	1806	c.1549T>A	c.(1549-1551)Ttg>Atg	p.L517M	MERTK_ENST00000421804.2_Missense_Mutation_p.L517M|MERTK_ENST00000409780.1_Missense_Mutation_p.L341M			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	517					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TTTGATTGGGTTGATTTTATA	0.458000													28	112					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68940116	68940116	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:68940116G>A	ENST00000433211.1	-	7	1180	c.1006C>T	c.(1006-1008)Cgc>Tgc	p.R336C	CTNNA3_ENST00000545309.1_Missense_Mutation_p.R336C|CTNNA3_ENST00000494580.1_5'UTR|CTNNA3_ENST00000373744.4_Missense_Mutation_p.R336C	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	336					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.R336C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AGAGCCTGGCGAATGGCGTTG	0.512000													19	52					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187510253	187510253	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:187510253G>A	ENST00000441802.2	-	27	13469	c.13260C>T	c.(13258-13260)atC>atT	p.I4420I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4420					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGTCCGTATCGATGGCGTTTG	0.537000										HNSCC(5;0.00058)			60	244					0	0	1	0	0
PNKD	25953	broad.mit.edu	37	2	219204780	219204780	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:219204780C>T	ENST00000273077.4	+	4	432	c.381C>T	c.(379-381)ctC>ctT	p.L127L	AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000258362.3_Silent_p.L103L|PNKD_ENST00000436005.2_Silent_p.L67L	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	127						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCCTGTCCTCTCGGACAACT	0.647000													18	52					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9391729	9391729	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr20:9391729C>T	ENST00000378501.2	+	21	2024	c.2009C>T	c.(2008-2010)tCg>tTg	p.S670L	PLCB4_ENST00000278655.4_Missense_Mutation_p.S670L|PLCB4_ENST00000334005.3_Missense_Mutation_p.S670L|PLCB4_ENST00000414679.2_Missense_Mutation_p.S682L|PLCB4_ENST00000378493.1_Missense_Mutation_p.S670L|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.S682L	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	670	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.S670L(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TATAATGGATCGTGCGGGTGA	0.363000													10	56					0	0	1	0	0
TRAFD1	10906	broad.mit.edu	37	12	112578685	112578685	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:112578685C>T	ENST00000257604.5	+	5	917	c.300C>T	c.(298-300)ctC>ctT	p.L100L	TRAFD1_ENST00000412615.2_Silent_p.L100L	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	100					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						TTTCCATTCTCAAACTGAAGG	0.463000													28	85					0	0	1	0	0
LVRN	206338	broad.mit.edu	37	5	115341655	115341655	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:115341655C>T	ENST00000357872.4	+	13	2208	c.2084C>T	c.(2083-2085)tCc>tTc	p.S695F	AQPEP_ENST00000395528.2_Missense_Mutation_p.S212F	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		695					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										GATGCCTTTTCCTTGTCTAAG	0.348000													9	47					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21484573	21484573	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr18:21484573C>T	ENST00000313654.9	+	51	6771	c.6530C>T	c.(6529-6531)aCc>aTc	p.T2177I	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.T512I|LAMA3_ENST00000399516.3_Missense_Mutation_p.T2121I|LAMA3_ENST00000269217.6_Missense_Mutation_p.T568I	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2177	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GATGCCGCCACCGCCTACGAG	0.617000													4	17					0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209358099	209358099	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:209358099G>A	ENST00000272847.2	+	13	1581	c.1368G>A	c.(1366-1368)acG>acA	p.T456T	PTH2R_ENST00000413482.1_3'UTR|AC019185.4_ENST00000424628.1_RNA	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	456						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		CCACCGTGACGCACAGCACCA	0.607000													11	39					0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103029537	103029537	+	Missense_Mutation	SNP	A	A	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:103029537A>C	ENST00000306312.3	-	14	1693	c.1432T>G	c.(1432-1434)Tcc>Gcc	p.S478A	SLC26A5_ENST00000393723.1_Missense_Mutation_p.S446A|SLC26A5_ENST00000393727.1_Missense_Mutation_p.S478A|SLC26A5_ENST00000393729.1_Missense_Mutation_p.S441A|SLC26A5_ENST00000393730.1_Missense_Mutation_p.S446A|SLC26A5_ENST00000393735.2_Missense_Mutation_p.S478A|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000339444.6_Missense_Mutation_p.S478A|SLC26A5_ENST00000432958.2_Missense_Mutation_p.S446A	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	478					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						AACAAGGAGGACACAAAAGTG	0.443000													6	38					0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6421437	6421437	+	Silent	SNP	C	C	T	rs146528945	byFrequency	TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:6421437C>T	ENST00000396988.3	+	2	275	c.45C>T	c.(43-45)ctC>ctT	p.L15L	PLEKHG6_ENST00000011684.7_Silent_p.L15L|PLEKHG6_ENST00000538208.1_3'UTR|PLEKHG6_ENST00000536531.1_Silent_p.L15L	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	15					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						TCCAAGGACTCGTGGCCTCCC	0.587000													20	76					0	0	1	0	0
LMAN1	3998	broad.mit.edu	37	18	57014755	57014755	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr18:57014755C>T	ENST00000251047.5	-	7	1529	c.812G>A	c.(811-813)gGa>gAa	p.G271E	LMAN1_ENST00000587940.1_5'UTR	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	271					blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi 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)	CGGCTCTTTTCCAGGTTCAGT	0.323000													8	15					0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798326	55798326	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:55798326C>T	ENST00000313555.1	+	1	432	c.432C>T	c.(430-432)ttC>ttT	p.F144F		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GTGTCTGCTTCATTGTGTTGG	0.458000													40	149					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107838825	107838825	+	Missense_Mutation	SNP	C	C	T	rs104886330		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:107838825C>T	ENST00000328300.6	+	22	1754	c.1510C>T	c.(1510-1512)Cct>Tct	p.P504S	COL4A5_ENST00000361603.2_Missense_Mutation_p.P504S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	504	Triple-helical region.		Missing (in APSX; juvenile type).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.P504S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCTCCCAGGTCCTCCAGGTAA	0.403000									Alport syndrome with Diffuse Leiomyomatosis				16	53					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48316106	48316106	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:48316106G>A	ENST00000435803.1	+	17	6867	c.6843G>A	c.(6841-6843)gaG>gaA	p.E2281E		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2281					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAGATTCTGAGAACAAAATAT	0.338000													10	21					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	115200379	115200379	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:115200379C>T	ENST00000410059.1	+	1	504	c.24C>T	c.(22-24)tcC>tcT	p.S8S		NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	8	Mediates effects on KCND2.				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CCAGCGTGTCCCATCACATCA	0.473000													13	41					0	0	1	0	0
AGAP2	116986	broad.mit.edu	37	12	58121520	58121520	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:58121520A>T	ENST00000257897.3	-	15	1818	c.1733T>A	c.(1732-1734)aTc>aAc	p.I578N	AGAP2_ENST00000547588.1_Missense_Mutation_p.I934N|AGAP2-AS1_ENST00000542466.2_Missense_Mutation_p.M249L	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	934					axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GATCGCCTGGATGGCCACGGC	0.627000													3	26					0	0	1	0	0
KAT2B	8850	broad.mit.edu	37	3	20141445	20141445	+	Splice_Site	SNP	A	A	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:20141445A>T	ENST00000263754.4	+	4	1123	c.669_splice	c.e4+1	p.Q223_splice	KAT2B_ENST00000426228.1_3'UTR	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	223					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						AGCATTGAACaggtaaaaaga	0.378000													10	44					0	0	1	0	0
TRAV24	28659	broad.mit.edu	37	14	22573960	22573960	+	RNA	SNP	G	G	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:22573960G>C	ENST00000390453.1	+	0	180																											GGTACAGATGGGAAACTGCAA	0.448000													3	15					0	0	1	0	0
SUCLG1	8802	broad.mit.edu	37	2	84668385	84668385	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:84668385G>A	ENST00000393868.2	-	4	727	c.517C>T	c.(517-519)Cct>Tct	p.P173S		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	173					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	ATGACTCCAGGGCAGTTGGGC	0.458000													22	82					0	0	1	0	0
MSI1	4440	broad.mit.edu	37	12	120791151	120791151	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:120791151G>A	ENST00000257552.2	-	10	772	c.684C>T	c.(682-684)gcC>gcT	p.A228A	MSI1_ENST00000546622.1_5'UTR	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	228					nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AACTCCGGCTGGCGTAGGTTG	0.607000													23	91					0	0	1	0	0
ZNF343	79175	broad.mit.edu	37	20	2464742	2464742	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr20:2464742G>A	ENST00000278772.4	-	6	1352	c.865C>T	c.(865-867)Cgt>Tgt	p.R289C	RP4-734P14.4_ENST00000461548.1_Intron	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						GAGTGTATACGATGGTGTCTG	0.478000													28	83					0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33716453	33716453	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr13:33716453C>T	ENST00000336934.5	-	4	497	c.381G>A	c.(379-381)agG>agA	p.R127R	STARD13_ENST00000487412.1_5'UTR|STARD13_ENST00000399365.3_Silent_p.R9R|STARD13_ENST00000255486.4_Silent_p.R119R	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	127					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CTACCTTTTTCCTTTGGAAGT	0.388000													15	63					0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147488344	147488344	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:147488344G>A	ENST00000359874.3	+	18	1709	c.1636G>A	c.(1636-1638)Gat>Aat	p.D546N	SPINK5_ENST00000398454.1_Missense_Mutation_p.D546N|SPINK5_ENST00000256084.7_Missense_Mutation_p.D546N	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	546	Kazal-like 8.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			gaagaaaaatgataaagaaga	0.333000													23	94					0	0	1	0	0
PRSS35	167681	broad.mit.edu	37	6	84234034	84234034	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:84234034G>A	ENST00000536636.1	+	3	1219	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	PRSS35_ENST00000369700.3_Missense_Mutation_p.E292K	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	292	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GAAATACATGGAACTTGGAAT	0.488000													27	71					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119115986	119115986	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:119115986A>T	ENST00000328252.3	+	17	4630	c.4261A>T	c.(4261-4263)Aaa>Taa	p.K1421*	PAPPA_ENST00000534838.1_Nonsense_Mutation_p.K459*	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1421	Sushi 4.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ACCTCCACCAAAATTCCATGG	0.527000													32	92					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49598250	49598250	+	RNA	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:49598250C>T	ENST00000527477.1	+	0	854																											GGCCTGGTTCCAGTTCTGTAG	0.498000													5	36					0	0	1	0	0
DHX29	54505	broad.mit.edu	37	5	54577307	54577307	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:54577307G>A	ENST00000251636.5	-	12	2150	c.2002C>T	c.(2002-2004)Cga>Tga	p.R668*	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	668	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TCACAAGCTCGAGATTCCATC	0.378000													20	95					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52610484	52610484	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:52610484C>T	ENST00000395489.2	-	5	415	c.19G>A	c.(19-21)Ggc>Agc	p.G7S	A1CF_ENST00000374001.1_Intron|A1CF_ENST00000282641.2_Intron|A1CF_ENST00000373995.3_Missense_Mutation_p.G22S|A1CF_ENST00000373997.3_Intron|A1CF_ENST00000395495.1_Intron|A1CF_ENST00000373993.1_Intron	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	0					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTTTTGAGGCCAGGAATTGCT	0.433000													27	140					0	0	1	0	0
ENTPD1	953	broad.mit.edu	37	10	97605259	97605259	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:97605259G>A	ENST00000371203.5	+	5	892	c.305G>A	c.(304-306)cGc>cAc	p.R102H	ENTPD1_ENST00000543964.1_Missense_Mutation_p.R132H|ENTPD1_ENST00000453258.2_Missense_Mutation_p.R247H|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371207.3_Missense_Mutation_p.R252H|ENTPD1_ENST00000371205.4_Missense_Mutation_p.R240H|ENTPD1_ENST00000539125.1_Missense_Mutation_p.R102H	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	240					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		CTGCAATTTCGCCTCTATGGC	0.488000													27	115					0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50444451	50444451	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:50444451C>T	ENST00000331340.3	+	4	536	c.381C>T	c.(379-381)atC>atT	p.I127I	IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000349824.4_Silent_p.I127I|IKZF1_ENST00000357364.4_Silent_p.I127I|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000439701.1_Silent_p.I127I|IKZF1_ENST00000440768.2_Silent_p.I127I|IKZF1_ENST00000359197.5_Silent_p.I127I	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	127					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TCATTTGCATCGGGCCCAATG	0.517000			"""D,T"""	BCL6	"""ALL, DLBCL"""								7	38					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61847989	61847989	+	Silent	SNP	T	T	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:61847989T>C	ENST00000280772.1	-	29	3647	c.3456A>G	c.(3454-3456)ggA>ggG	p.G1152G	ANK3_ENST00000373827.2_Silent_p.G1146G|ANK3_ENST00000503366.1_Silent_p.G1153G|ANK3_ENST00000355288.2_Silent_p.G286G	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1152					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGCTCAGAATTCCACCTTCAG	0.468000													24	117					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000													5	72					0	0	1	0	0
PPP2R4	5524	broad.mit.edu	37	9	131891325	131891325	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:131891325C>T	ENST00000337738.1	+	5	650	c.383C>T	c.(382-384)cCa>cTa	p.P128L	PPP2R4_ENST00000358994.4_Missense_Mutation_p.P93L|PPP2R4_ENST00000357197.4_Missense_Mutation_p.P64L|PPP2R4_ENST00000452489.2_Missense_Mutation_p.P128L|PPP2R4_ENST00000347048.4_Intron|PPP2R4_ENST00000348141.5_Missense_Mutation_p.P99L|PPP2R4_ENST00000393370.2_Missense_Mutation_p.P93L|PPP2R4_ENST00000355007.3_Intron	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	128					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		GAGACTCCTCCAGTGGACCAG	0.547000													13	47					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150923154	150923154	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:150923154G>A	ENST00000261800.5	-	9	7546	c.7534C>T	c.(7534-7536)Ccc>Tcc	p.P2512S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2512	Cadherin 22.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGCCATAGGGACCACTATCT	0.438000													42	147					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2162790	2162790	+	Splice_Site	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:2162790G>A	ENST00000262304.4	-	13	3368	c.3161_splice	c.e13+1	p.L1054_splice	PKD1_ENST00000423118.1_Splice_Site_p.L1054_splice|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1054	PKD 5.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTCACTCACAGGAAGGCCACC	0.682000													6	25					0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587703	55587703	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:55587703C>T	ENST00000333976.4	+	1	618	c.598C>T	c.(598-600)Cta>Tta	p.L200L		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CCAGTGGCTGCTATTCTTTCT	0.408000													29	112					0	0	1	0	0
LUC7L3	51747	broad.mit.edu	37	17	48823267	48823267	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:48823267C>T	ENST00000505658.1	+	8	1069	c.880C>T	c.(880-882)Cgt>Tgt	p.R294C	LUC7L3_ENST00000544170.1_Missense_Mutation_p.R218C|LUC7L3_ENST00000240304.1_Missense_Mutation_p.R294C|LUC7L3_ENST00000393227.2_Missense_Mutation_p.R294C			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	294	Arg/Ser-rich.				apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						AAAGAGAAGTCGTTCACGAAG	0.473000													11	26					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60696363	60696363	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:60696363G>A	ENST00000005286.4	+	4	950	c.797G>A	c.(796-798)cGg>cAg	p.R266Q	TMEM132A_ENST00000453848.2_Missense_Mutation_p.R266Q	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	266						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						ATGCCAGTGCGGCCCGGCCAG	0.672000													15	61					0	0	1	0	0
FAM65B	9750	broad.mit.edu	37	6	24848308	24848308	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:24848308G>A	ENST00000259698.4	-	12	1197	c.1022C>T	c.(1021-1023)tCc>tTc	p.S341F	FAM65B_ENST00000510784.2_Missense_Mutation_p.S375F|FAM65B_ENST00000378023.4_Missense_Mutation_p.S341F|FAM65B_ENST00000540914.1_Missense_Mutation_p.S341F|FAM65B_ENST00000538035.1_Missense_Mutation_p.S370F	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	341					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						GCTGTACATGGACATTCTCCT	0.527000													7	27					0	0	1	0	0
ITGA2B	3674	broad.mit.edu	37	17	42449740	42449740	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:42449740C>T	ENST00000262407.5	-	30	3143	c.3112G>A	c.(3112-3114)Ggg>Agg	p.G1038R	ITGA2B_ENST00000353281.4_Missense_Mutation_p.G1004R	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	1038					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CATCACTCCCCCTCTTCATCA	0.582000													5	28					0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70048755	70048755	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:70048755C>T	ENST00000330891.5	-	10	2165	c.1939G>A	c.(1939-1941)Gaa>Aaa	p.E647K	BEST3_ENST00000553096.1_Missense_Mutation_p.E541K|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Missense_Mutation_p.E434K	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	647						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TCCAGGTTTTCCATTAAATAC	0.448000													8	41					0	0	1	0	0
KLK14	43847	broad.mit.edu	37	19	51582165	51582165	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:51582165G>A	ENST00000391802.1	-	6	776	c.558C>T	c.(556-558)tcC>tcT	p.S186S	KLK14_ENST00000156499.2_Silent_p.S186S	NM_022046.4	NP_071329.2	Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	186	Peptidase S1.				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		CCTCATCCGGGGAGATGTTGA	0.587000													58	161					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135431105	135431105	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:135431105C>T	ENST00000394143.1	+	6	5531	c.5240C>T	c.(5239-5241)cCt>cTt	p.P1747L	GPR112_ENST00000412101.1_Missense_Mutation_p.P1542L|GPR112_ENST00000394141.1_Missense_Mutation_p.P1542L|GPR112_ENST00000370652.1_Missense_Mutation_p.P1747L|GPR112_ENST00000287534.4_Missense_Mutation_p.P1684L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1747					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATCACTGTTCCTGAAAATATG	0.428000													51	103					0	0	1	0	0
MALT1	10892	broad.mit.edu	37	18	56390483	56390483	+	Splice_Site	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr18:56390483G>A	ENST00000348428.3	+	10	1480	c.1222_splice	c.e10+1	p.G408_splice	MALT1_ENST00000345724.3_Splice_Site_p.G397_splice|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	408	Caspase-like.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						GGGAGTATATGGTAAGATATT	0.303000			T	BIRC3	MALT								7	39					0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10755495	10755495	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:10755495G>A	ENST00000416569.2	-	3	1919	c.1893C>T	c.(1891-1893)ctC>ctT	p.L631L	XKR6_ENST00000304437.2_Silent_p.L352L	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	631						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GCAACTCATAGAGGAGTGGTC	0.453000													49	69					0	0	1	0	0
CEBPE	1053	broad.mit.edu	37	14	23588291	23588291	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:23588291C>T	ENST00000206513.5	-	1	534	c.10G>A	c.(10-12)Ggg>Agg	p.G4R		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	4						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TAGTAGGTCCCGTGGGACATG	0.701000													8	12					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10295939	10295939	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:10295939C>T	ENST00000403437.2	-	38	5582	c.5488G>A	c.(5488-5490)Gaa>Aaa	p.E1830K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1830					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGTTCATTTTCAACCTCTCCT	0.453000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				39	151					0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26722384	26722384	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:26722384C>T	ENST00000380573.3	-	2	1126	c.103G>A	c.(103-105)Ggc>Agc	p.G35S	ADRA1A_ENST00000380587.1_Missense_Mutation_p.G35S|ADRA1A_ENST00000276393.4_Missense_Mutation_p.G35S|ADRA1A_ENST00000358857.5_Missense_Mutation_p.G35S|ADRA1A_ENST00000380582.3_Missense_Mutation_p.G35S|ADRA1A_ENST00000380586.1_Missense_Mutation_p.G35S|ADRA1A_ENST00000519229.1_Missense_Mutation_p.G35S|ADRA1A_ENST00000380581.2_Missense_Mutation_p.G35S|ADRA1A_ENST00000354550.4_Missense_Mutation_p.G35S|ADRA1A_ENST00000380572.3_Missense_Mutation_p.G35S			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	35					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	AGAATGAGGCCCCCCAAGATC	0.567000													67	289					0	0	1	0	0
TRIM69	140691	broad.mit.edu	37	15	45050851	45050851	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:45050851C>T	ENST00000559390.1	+	5	1540	c.612C>T	c.(610-612)tcC>tcT	p.S204S	TRIM69_ENST00000560442.1_5'UTR|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000558173.1_5'UTR|TRIM69_ENST00000338264.4_Silent_p.S45S|TRIM69_ENST00000329464.4_Silent_p.S204S|TRIM69_ENST00000558329.1_5'UTR			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	204					apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		AACATGTGTCCATGGAGTTTC	0.483000													16	42					0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148600313	148600313	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:148600313C>T	ENST00000296046.3	+	8	761	c.709C>T	c.(709-711)Cgt>Tgt	p.R237C	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	237					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GAGAAAAAATCGTTCCAAGAA	0.383000													14	47					0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537408	5537408	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:5537408C>T	ENST00000380184.1	-	1	527	c.264G>A	c.(262-264)agG>agA	p.R88R	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	88	Ubiquitin-like.									endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CCATGATGCCCCTCTGGCTCA	0.527000													9	79					0	0	1	0	0
GPAA1	8733	broad.mit.edu	37	8	145138666	145138666	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:145138666C>T	ENST00000355091.4	+	4	537	c.416C>T	c.(415-417)gCc>gTc	p.A139V	GPAA1_ENST00000527144.1_3'UTR|GPAA1_ENST00000361036.6_Missense_Mutation_p.A79V	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	139					attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCGCGTGCTGCCAGCACCGAG	0.652000													13	43					0	0	1	0	0
GPC4	2239	broad.mit.edu	37	X	132439895	132439895	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:132439895G>A	ENST00000370828.3	-	6	1584	c.1060C>T	c.(1060-1062)Cgt>Tgt	p.R354C	GPC4_ENST00000535467.1_Missense_Mutation_p.R284C	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	354					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GAGATGGAACGAGAAATTCGT	0.562000													82	172					0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203017437	203017437	+	Splice_Site	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:203017437G>A	ENST00000367240.2	+	10	1750	c.1224_splice	c.e10+1	p.R408_splice	PPFIA4_ENST00000447715.2_Splice_Site_p.R408_splice|PPFIA4_ENST00000295706.4_5'UTR|PPFIA4_ENST00000414050.2_Splice_Site_p.R115_splice			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	104	SAM 1.				cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GAGCTGGCACGGGTGAGGGCA	0.687000													14	19					0	0	1	0	0
APLP2	334	broad.mit.edu	37	11	130013326	130013326	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:130013326G>A	ENST00000263574.5	+	18	2347	c.2275G>A	c.(2275-2277)Gag>Aag	p.E759K	APLP2_ENST00000338167.5_Missense_Mutation_p.E747K|APLP2_ENST00000539648.1_Missense_Mutation_p.E547K|APLP2_ENST00000543137.1_Missense_Mutation_p.E654K|APLP2_ENST00000528499.1_Missense_Mutation_p.E691K|APLP2_ENST00000278756.7_Missense_Mutation_p.E757K|APLP2_ENST00000345598.5_Missense_Mutation_p.E518K	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	759					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		CAAATACCTGGAGCAGATGCA	0.567000													26	77					0	0	1	0	0
CSRNP3	80034	broad.mit.edu	37	2	166535800	166535800	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:166535800C>T	ENST00000314499.7	+	7	1671	c.1295C>T	c.(1294-1296)tCt>tTt	p.S432F	CSRNP3_ENST00000409420.1_Missense_Mutation_p.S464F|CSRNP3_ENST00000342316.4_Missense_Mutation_p.S432F	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	432					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TATGCCAACTCTTCAACTCTG	0.423000													46	118					0	0	1	0	0
TNFRSF17	608	broad.mit.edu	37	16	12061681	12061681	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:12061681G>A	ENST00000053243.1	+	3	750	c.532G>A	c.(532-534)Gag>Aag	p.E178K	TNFRSF17_ENST00000396495.3_Missense_Mutation_p.E129K|RP11-166B2.1_ENST00000532936.1_Intron	NM_001192.2	NP_001183.2	Q02223	TNR17_HUMAN	tumor necrosis factor receptor superfamily, member 17	178					cell proliferation|multicellular organismal development	endomembrane system|integral to membrane|plasma membrane				large_intestine(3)|lung(3)	6						TACGGAGATAGAGAAATCAAT	0.433000			T	IL2	intestinal T-cell lymphoma								16	55					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18273570	18273570	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr22:18273570G>A	ENST00000441493.2	-	32	6289	c.5937C>T	c.(5935-5937)ctC>ctT	p.L1979L	XXbac-B461K10.4_ENST00000476405.1_RNA	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1979						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTCTCTCCCGGAGCCGCTGCT	0.582000													7	26					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21871732	21871732	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:21871732C>T	ENST00000399982.2	-	16	3462	c.3398G>A	c.(3397-3399)gGc>gAc	p.G1133D	CHD8_ENST00000430710.3_Missense_Mutation_p.G854D|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000557364.1_Missense_Mutation_p.G1133D	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1133					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AACCAGTTTGCCGGCTGAACG	0.458000													3	21					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906821	13906821	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:13906821C>T	ENST00000279593.3	-	3	649	c.440G>A	c.(439-441)gGc>gAc	p.G147D		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	147					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AATTGATGGGCCAAACTGGAA	0.393000													16	56					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23874460	23874460	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:23874460G>A	ENST00000405093.3	-	5	544	c.474C>T	c.(472-474)tcC>tcT	p.S158S	MYH6_ENST00000356287.3_Silent_p.S158S	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	158	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AGGCGTTGTCGGAGATGGAGA	0.622000													59	129					0	0	1	0	0
TRAV23DV6	28660	broad.mit.edu	37	14	22554979	22554979	+	RNA	SNP	T	T	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:22554979T>A	ENST00000390451.2	+	0	150																											TGAAACAAAGTCCTCAATCTT	0.408000													9	32					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34080130	34080130	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:34080130C>T	ENST00000373381.4	-	40	6283	c.6107G>A	c.(6106-6108)tGg>tAg	p.W2036*	CSMD2_ENST00000373377.1_Nonsense_Mutation_p.W135*|CSMD2_ENST00000373380.1_Nonsense_Mutation_p.W909*|CSMD2_ENST00000373388.2_Nonsense_Mutation_p.W135*	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1996	CUB 12.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCTATTTTCCAGGAGCAGTC	0.567000													12	17					0	0	1	0	0
OR7D4	125958	broad.mit.edu	37	19	9325379	9325379	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:9325379G>A	ENST00000308682.2	-	1	163	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CGGCCAGAATGATGAGCAGGT	0.552000													25	114					0	0	1	0	0
GRB14	2888	broad.mit.edu	37	2	165353893	165353893	+	Silent	SNP	G	G	A	rs147507583	byFrequency	TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:165353893G>A	ENST00000263915.3	-	10	1750	c.1212C>T	c.(1210-1212)ctC>ctT	p.L404L	GRB14_ENST00000543549.1_Silent_p.L317L	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	404					blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CCCTCCAAGCGAGTCCTTCTT	0.408000													29	125					0	0	1	0	0
FAM151B	167555	broad.mit.edu	37	5	79837533	79837533	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:79837533C>T	ENST00000282226.4	+	6	868	c.713C>T	c.(712-714)tCc>tTc	p.S238F	FAM151B_ENST00000511718.1_3'UTR	NM_205548.2	NP_991111.2	Q6UXP7	F151B_HUMAN	family with sequence similarity 151, member B	238										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	7		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		GATAACTATTCCGTTGAAGAT	0.328000													5	28					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73066348	73066348	+	RNA	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:73066348G>A	ENST00000429829.1	-	0	6240					NR_001564.2																						ATTGCAAAAGGGGTCGGAGAG	0.453000													34	83					0	0	1	0	0
SIK1	150094	broad.mit.edu	37	21	44840966	44840966	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr21:44840966G>A	ENST00000270162.6	-	7	804	c.672C>T	c.(670-672)ttC>ttT	p.F224F		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	224	Protein kinase.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						TAGGCCCATCGAAGGGGAGAG	0.652000													5	26					0	0	1	0	0
ZNF599	148103	broad.mit.edu	37	19	35251304	35251304	+	Missense_Mutation	SNP	G	G	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:35251304G>C	ENST00000329285.7	-	4	775	c.402C>G	c.(400-402)aaC>aaG	p.N134K		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CTGGCCTCAAGTTCCCTTCCT	0.443000													24	144					0	0	1	0	0
WISP1	8840	broad.mit.edu	37	8	134232920	134232920	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:134232920G>A	ENST00000250160.6	+	3	552	c.446G>A	c.(445-447)gGc>gAc	p.G149D	WISP1_ENST00000377863.2_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000519433.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	149	VWFC.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TGCATCGACGGCGCGGTGGGC	0.672000													14	95					0	0	1	0	0
VWA9	81556	broad.mit.edu	37	15	65877212	65877212	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:65877212G>A	ENST00000395644.4	-	10	1470	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	VWA9_ENST00000567744.1_Missense_Mutation_p.P415S|VWA9_ENST00000313182.2_Missense_Mutation_p.P379S|VWA9_ENST00000569491.1_Missense_Mutation_p.P329S|VWA9_ENST00000569180.1_5'UTR|VWA9_ENST00000442903.3_Missense_Mutation_p.P343S|VWA9_ENST00000431261.2_Missense_Mutation_p.P300S|VWA9_ENST00000420799.2_Missense_Mutation_p.P322S					von Willebrand factor A domain containing 9																		TCGCCATAAGGGTTTTCTTTA	0.413000													8	25					0	0	1	0	0
VWA8	23078	broad.mit.edu	37	13	42277461	42277461	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr13:42277461T>C	ENST00000379310.3	-	27	3271	c.3203A>G	c.(3202-3204)gAa>gGa	p.E1068G		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		ATGATGAGTTTCCACTGGACA	0.373000													10	54					0	0	1	0	0
ARMC9	80210	broad.mit.edu	37	2	232087527	232087527	+	Silent	SNP	A	A	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:232087527A>G	ENST00000349938.4	+	6	785	c.591A>G	c.(589-591)acA>acG	p.T197T	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	197							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		AGCTTTTAACAATATATGTAT	0.363000													8	38					0	0	1	0	0
IP6K3	117283	broad.mit.edu	37	6	33690964	33690964	+	Splice_Site	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:33690964C>T	ENST00000451316.1	-	7	1301	c.765_splice	c.e7-1	p.V256_splice	IP6K3_ENST00000293756.4_Splice_Site_p.V256_splice	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	256					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						GTTTGATAAACCTTACATTAA	0.358000													8	33					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54520229	54520229	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:54520229C>T	ENST00000566473.2	+	9	1043	c.1043C>T	c.(1042-1044)tCg>tTg	p.S348L	ANKFN1_ENST00000318698.2_Missense_Mutation_p.S348L			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	348	Fibronectin type-III.									NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GTTCAAGTCTCGGCTTACAAT	0.438000													12	63					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21073827	21073827	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:21073827C>T	ENST00000261383.3	-	25	3695	c.3696G>A	c.(3694-3696)caG>caA	p.Q1232Q	DNAH3_ENST00000415178.1_Silent_p.Q1232Q	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1232	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGTAGATTTTCTGTATGAATG	0.413000													28	95					0	0	1	0	0
SIRT5	23408	broad.mit.edu	37	6	13592122	13592122	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:13592122C>T	ENST00000606117.1	+	5	767	c.471C>T	c.(469-471)atC>atT	p.I157I	SIRT5_ENST00000379262.4_Silent_p.I157I|SIRT5_ENST00000359782.3_Silent_p.I157I|SIRT5_ENST00000397350.2_Silent_p.I49I	NM_012241.4	NP_036373.1	Q9NXA8	SIRT5_HUMAN	sirtuin 5	157	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	TTCTGGAGATCCATGGTGAGA	0.597000													6	24					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716798	142716798	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:142716798G>A	ENST00000381779.4	-	2	2352	c.2127C>T	c.(2125-2127)ttC>ttT	p.F709F	SLITRK4_ENST00000356928.1_Silent_p.F709F|SLITRK4_ENST00000338017.4_Silent_p.F709F	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	709						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAAAACATGAACCCAGTTT	0.408000													42	87					0	0	1	0	0
PAAF1	80227	broad.mit.edu	37	11	73620448	73620448	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:73620448C>T	ENST00000544909.1	+	5	797	c.540C>T	c.(538-540)atC>atT	p.I180I	PAAF1_ENST00000376384.5_Silent_p.I162I|PAAF1_ENST00000541951.1_Silent_p.I64I|PAAF1_ENST00000310571.3_Silent_p.I179I|PAAF1_ENST00000536003.1_Silent_p.I162I|PAAF1_ENST00000535604.1_Silent_p.I64I|PAAF1_ENST00000544552.1_Silent_p.I162I			Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	179					interspecies interaction between organisms	proteasome complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					TGCTAGGTATCCTGGATACAG	0.512000													22	65					0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169654229	169654229	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:169654229C>T	ENST00000428432.2	+	8	1533	c.1144C>T	c.(1144-1146)Cag>Tag	p.Q382*	SAMD7_ENST00000335556.3_Nonsense_Mutation_p.Q382*	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	382	SAM.									NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			ACTAAAAATTCAGTCACAGGT	0.318000													15	54					0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17326973	17326973	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:17326973G>A	ENST00000452699.1	-	9	936	c.747C>T	c.(745-747)gaC>gaT	p.D249D	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Silent_p.D249D|ATP13A2_ENST00000326735.8_Silent_p.D254D	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	254					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		AGTAGTAGTGGTCAGCCAGCC	0.617000													19	15					0	0	1	0	0
SEC14L2	23541	broad.mit.edu	37	22	30812280	30812280	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr22:30812280G>A	ENST00000312932.9	+	11	1229	c.969G>A	c.(967-969)aaG>aaA	p.K323K	SEC14L2_ENST00000403484.1_Silent_p.K249K|SEC14L2_ENST00000405717.3_Silent_p.K323K|RP4-539M6.19_ENST00000439838.1_Silent_p.K157K|SEC14L2_ENST00000402592.3_Silent_p.K240K	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	323	GOLD.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	TGAAGACCAAGATGGGAGAGA	0.537000													11	58					0	0	1	0	0
EN1	2019	broad.mit.edu	37	2	119604321	119604321	+	Silent	SNP	C	C	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:119604321C>G	ENST00000295206.6	-	1	933	c.423G>C	c.(421-423)cgG>cgC	p.R141R		NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	141					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						CACGCTCGACCCGGCCTCCTC	0.706000													4	34					0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44845478	44845478	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr20:44845478G>A	ENST00000372262.3	-	4	1225	c.825C>T	c.(823-825)ccC>ccT	p.P275P	CDH22_ENST00000537909.1_Silent_p.P275P|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	275	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GCGGGAAACGGGGCGGGTTGT	0.612000													19	93					0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16001121	16001121	+	Splice_Site	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:16001121C>T	ENST00000350896.3	-	8	1177		c.e8-1		MSR1_ENST00000445506.2_Splice_Site|MSR1_ENST00000262101.5_Splice_Site|MSR1_ENST00000355282.2_Splice_Site|MSR1_ENST00000381998.4_Splice_Site|MSR1_ENST00000536385.1_Splice_Site	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1						cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CCAGAATTTCCTTGAGAAAAG	0.313000													32	45					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26228956	26228956	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr22:26228956C>T	ENST00000335473.7	+	16	3302	c.3052C>T	c.(3052-3054)Ccc>Tcc	p.P1018S	MYO18B_ENST00000536101.1_Missense_Mutation_p.P1018S|MYO18B_ENST00000407587.2_Missense_Mutation_p.P1018S	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1018	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGATCAAAATCCCTCTCAGGT	0.502000													9	57					0	0	1	0	0
ZNF80	7634	broad.mit.edu	37	3	113955735	113955735	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:113955735G>A	ENST00000482457.2	-	1	690	c.187C>T	c.(187-189)Ctc>Ttc	p.L63F		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	63						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				CGAACAAGGAGGCTGTTTTTG	0.483000													15	61					0	0	1	0	0
MBL1P	8512	broad.mit.edu	37	10	81680768	81680768	+	RNA	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:81680768G>A	ENST00000480805.1	+	0	835					NR_002724.2																						GGAAACACAGGGACTTCTGGA	0.597000													5	11					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13737583	13737583	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:13737583G>A	ENST00000265104.4	-	66	11337	c.11233C>T	c.(11233-11235)Cat>Tat	p.H3745Y		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3745	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCCATCAGATGAGTTCTTTCT	0.373000									Kartagener syndrome				14	44					0	0	1	0	0
ANKRD24	170961	broad.mit.edu	37	19	4217071	4217071	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:4217071G>A	ENST00000600132.1	+	18	2190	c.1914G>A	c.(1912-1914)atG>atA	p.M638I	ANKRD24_ENST00000262970.5_Missense_Mutation_p.M728I|ANKRD24_ENST00000318934.4_Missense_Mutation_p.M638I	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	638										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		TGGAGGCCATGGGGGTGGAGG	0.557000													12	39					0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40599815	40599815	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:40599815C>T	ENST00000260402.3	-	1	308	c.59G>A	c.(58-60)gGg>gAg	p.G20E	PLCB2_ENST00000543785.2_Missense_Mutation_p.G20E|PLCB2_ENST00000557821.1_Missense_Mutation_p.G20E|PLCB2_ENST00000456256.2_Missense_Mutation_p.G20E	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	20					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GAAGCGCTCCCCTTGGCTCAG	0.607000													10	32					0	0	1	0	0
IL1R1	3554	broad.mit.edu	37	2	102791117	102791117	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:102791117C>T	ENST00000410023.1	+	10	1380	c.1062C>T	c.(1060-1062)ttC>ttT	p.F354F	IL1R1_ENST00000233946.3_Silent_p.F354F|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000409288.1_Silent_p.F354F|IL1R1_ENST00000409929.1_Silent_p.F354F|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409329.1_Silent_p.F354F|IL1R1_ENST00000424272.1_Silent_p.F354F			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	354					innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	GTTCTGTTTTCATCTATAAAA	0.323000													20	49					0	0	1	0	0
DNAJC2	27000	broad.mit.edu	37	7	102967028	102967028	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:102967028G>A	ENST00000379263.3	-	5	784	c.534C>T	c.(532-534)ttC>ttT	p.F178F	PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Silent_p.F178F	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	178	ZRF1-UBD.				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						ACACTTCGAAGAAATTATCCT	0.378000													11	64					0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	100963506	100963506	+	Missense_Mutation	SNP	A	A	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:100963506A>C	ENST00000193391.7	-	13	1856	c.1669T>G	c.(1669-1671)Tct>Gct	p.S557A		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	557					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TATGGTGAAGATGTTAAGGAC	0.408000													40	122					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179710443	179710443	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:179710443C>T	ENST00000420890.2	-	22	3501	c.3384G>A	c.(3382-3384)ccG>ccA	p.P1128P	CCDC141_ENST00000295723.5_Silent_p.P553P|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	553							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTTCCAAATTCGGATTCATCT	0.368000													18	38					0	0	1	0	0
ZNF546	339327	broad.mit.edu	37	19	40519997	40519997	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:40519997G>A	ENST00000347077.4	+	7	1036	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.E248K	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GAGACCCTATGAATGTAAAGA	0.438000													36	118					0	0	1	0	0
ABAT	18	broad.mit.edu	37	16	8839939	8839939	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:8839939C>T	ENST00000396600.2	+	3	1090	c.152C>T	c.(151-153)cCa>cTa	p.P51L	ABAT_ENST00000569156.1_Missense_Mutation_p.P51L|ABAT_ENST00000268251.8_Missense_Mutation_p.P51L|ABAT_ENST00000567812.1_Missense_Mutation_p.P66L|ABAT_ENST00000425191.2_Missense_Mutation_p.P51L	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	51					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	ACGGAAGTCCCAGGGCCTAGA	0.483000													13	38					0	0	1	0	0
TRAV26-2	28656	broad.mit.edu	37	14	22671117	22671117	+	RNA	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:22671117C>T	ENST00000390460.1	+	0	182																											TCCCAGGGTCCAGAGTACGTG	0.478000													13	39					0	0	1	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21555550	21555550	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:21555550C>T	ENST00000298694.4	+	21	4442	c.4315C>T	c.(4315-4317)Ccg>Tcg	p.P1439S	ARHGEF40_ENST00000298693.3_Intron			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	1439					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CGGCCTTTCGCCGGGAGCCTG	0.701000													20	58					0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158299161	158299161	+	Splice_Site	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:158299161C>T	ENST00000368168.3	-	4	992	c.886_splice	c.e4+1	p.W295_splice		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	295	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ATTTCTTACTCCAGTAGAGGA	0.557000													15	52					0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24569086	24569086	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:24569086G>A	ENST00000535378.1	-	14	2678	c.2036C>T	c.(2035-2037)aCc>aTc	p.T679I	KIAA0319_ENST00000430948.2_Missense_Mutation_p.T643I|KIAA0319_ENST00000543707.1_Missense_Mutation_p.T688I|KIAA0319_ENST00000378214.3_Missense_Mutation_p.T688I|KIAA0319_ENST00000537886.1_Missense_Mutation_p.T688I	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	688	PKD 4.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GAAGTGGTAGGTCCCCACCTG	0.512000													22	68					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57114739	57114739	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:57114739G>A	ENST00000454682.1	-	3	856	c.575C>T	c.(574-576)cCc>cTc	p.P192L	NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.P192L|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0	UBA.				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TACCTCAGAGGGAACTTTATT	0.483000			T	BCL6	NHL								23	96					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9578750	9578750	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:9578750G>A	ENST00000301480.4	-	10	1086	c.873C>T	c.(871-873)tcC>tcT	p.S291S		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TGCCTTCAAAGGATTTATCTT	0.393000													34	106					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370073	86370073	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr13:86370073G>A	ENST00000400286.2	-	2	1169	c.571C>T	c.(571-573)Cgt>Tgt	p.R191C		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	191						integral to membrane		p.R191C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGATTTCCACGAAGATCTAGA	0.388000													39	121					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540577	55540577	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:55540577G>A	ENST00000220676.1	+	4	4283	c.4135G>A	c.(4135-4137)Gaa>Aaa	p.E1379K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1379					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GACAGACCCTGAATATAAAAA	0.328000													13	88					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120977920	120977920	+	Silent	SNP	A	A	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:120977920A>G	ENST00000273666.6	+	18	2134	c.1863A>G	c.(1861-1863)ccA>ccG	p.P621P	STXBP5L_ENST00000497029.1_Silent_p.P621P|STXBP5L_ENST00000472879.1_Silent_p.P621P|STXBP5L_ENST00000471454.1_Silent_p.P621P|STXBP5L_ENST00000492541.1_Silent_p.P621P	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	621					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GAATGCCTCCAGGATATCAAG	0.378000													10	45					0	0	1	0	0
ZMAT4	79698	broad.mit.edu	37	8	40554830	40554830	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:40554830G>A	ENST00000297737.6	-	4	429	c.283C>T	c.(283-285)Caa>Taa	p.Q95*	ZMAT4_ENST00000315769.7_Nonsense_Mutation_p.Q95*	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	95						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			ATTTTGCCTTGATAATGGGAA	0.517000													31	122					0	0	1	0	0
CHIT1	1118	broad.mit.edu	37	1	203198762	203198762	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:203198762C>T	ENST00000535569.1	-	1	37	c.33G>A	c.(31-33)atG>atA	p.M11I	CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000367229.1_Start_Codon_SNP_p.M1I|CHIT1_ENST00000255427.3_Start_Codon_SNP_p.M1I	NM_001256125.1	NP_001243054.2	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	1					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CAGACCGCACCATGATGCAGC	0.622000													7	22					0	0	1	0	0
ANGPTL4	51129	broad.mit.edu	37	19	8430912	8430912	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:8430912G>A	ENST00000301455.2	+	2	564	c.393G>A	c.(391-393)gaG>gaA	p.E131E	ANGPTL4_ENST00000541807.1_5'UTR|ANGPTL4_ENST00000393962.2_Silent_p.E131E	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	131					angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						GGCACCTGGAGAAGCAGCACC	0.562000													15	40					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31323187	31323187	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:31323187C>T	ENST00000265071.2	+	12	2410	c.2145C>T	c.(2143-2145)ttC>ttT	p.F715F		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	715					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCAGAGATTTCATTAACCAAA	0.532000													14	49					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29519898	29519898	+	Missense_Mutation	SNP	C	C	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:29519898C>A	ENST00000389048.3	-	9	2579	c.1673G>T	c.(1672-1674)gGa>gTa	p.G558V	ALK_ENST00000498037.1_5'UTR|ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	558	MAM 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CCTCAAGACTCCACGAATGAG	0.537000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				15	60					1.15088e-07	1.16831e-07	1	1	0
GLRA1	2741	broad.mit.edu	37	5	151271999	151271999	+	Splice_Site	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:151271999G>A	ENST00000274576.4	-	2	349	c.56_splice	c.e2-1	p.S19_splice	GLRA1_ENST00000455880.2_Splice_Site_p.S19_splice|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000545569.1_Intron	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	19					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AAGCAGCAAGGCTAAGGAGGA	0.512000													10	42					0	0	1	0	0
TM9SF4	9777	broad.mit.edu	37	20	30734616	30734616	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr20:30734616C>T	ENST00000217315.5	+	9	1201	c.861C>T	c.(859-861)acC>acT	p.T287T	TM9SF4_ENST00000398022.2_Silent_p.T304T			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	304						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCATTCGGACCCTCCGGAAGG	0.547000													7	35					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545844	82545844	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:82545844C>T	ENST00000423517.2	-	7	11795	c.11458G>A	c.(11458-11460)Gaa>Aaa	p.E3820K	PCLO_ENST00000333891.8_Missense_Mutation_p.E3820K|PCLO_ENST00000437081.1_Missense_Mutation_p.E540K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3751	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TAGGCTCGTTCTCTCTTTTCT	0.453000													34	73					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107720127	107720127	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:107720127G>A	ENST00000388781.3	-	15	1889	c.1806C>T	c.(1804-1806)ctC>ctT	p.L602L	LAMB4_ENST00000414450.2_Silent_p.L602L|LAMB4_ENST00000388780.3_Silent_p.L602L|LAMB4_ENST00000205386.4_Silent_p.L602L	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	602	Laminin IV type B.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CAGCCCCAGGGAGAACCCTGG	0.507000													15	51					0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158299162	158299162	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:158299162C>T	ENST00000368168.3	-	4	991	c.884G>A	c.(883-885)tGg>tAg	p.W295*		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	295	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	p.W295L(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TTTCTTACTCCAGTAGAGGAT	0.552000													15	52					0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135745729	135745729	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:135745729C>T	ENST00000264977.3	+	3	2668	c.2051C>T	c.(2050-2052)tCt>tTt	p.S684F	PPP2R3A_ENST00000490467.1_5'UTR|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.S63F	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	684	Pro-rich.				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCAGCCACCTCTCCAAGTAGT	0.418000													24	82					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94049738	94049738	+	Missense_Mutation	SNP	T	T	A	rs407599		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:94049738T>A	ENST00000297268.6	+	36	2640	c.2169T>A	c.(2167-2169)aaT>aaA	p.N723K		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	723			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTGGCCCCAATGGATTTGCTG	0.448000										HNSCC(75;0.22)			19	62					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64617578	64617578	+	Missense_Mutation	SNP	T	T	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:64617578T>G	ENST00000498707.1	-	15	2541	c.2199A>C	c.(2197-2199)ttA>ttC	p.L733F	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.L705F	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	733	Cys-rich.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTTTTGAGTTTAAAACATGAT	0.323000													24	51					0	0	1	0	0
NTF3	4908	broad.mit.edu	37	12	5603549	5603549	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:5603549G>A	ENST00000423158.3	+	2	420	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Missense_Mutation_p.E57K	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	57					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						GGACGTTAAGGAAAATTACCA	0.527000													24	88					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15376337	15376337	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:15376337G>A	ENST00000263377.2	-	5	898	c.677C>T	c.(676-678)cCt>cTt	p.P226L	BRD4_ENST00000371835.4_Missense_Mutation_p.P226L|BRD4_ENST00000360016.5_Missense_Mutation_p.P226L	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	226					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GGTGACGGCAGGGAAGGGGTG	0.657000			T	C15orf55	lethal midline carcinoma of young people								32	122					0	0	1	0	0
ZNF558	148156	broad.mit.edu	37	19	8922209	8922209	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:8922209G>A	ENST00000601372.1	-	10	1668	c.957C>T	c.(955-957)ccC>ccT	p.P319P	ZNF558_ENST00000444186.2_Silent_p.P248P|ZNF558_ENST00000301475.1_Silent_p.P319P			Q96NG5	ZN558_HUMAN	zinc finger protein 558	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						TACATTCATAGGGTTTTTCTC	0.443000													26	75					0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94964180	94964180	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:94964180G>A	ENST00000341228.2	-	3	1350	c.555C>T	c.(553-555)acC>acT	p.T185T	SERPINA12_ENST00000556881.1_Silent_p.T185T	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	185					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.T185T(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TTTTCCCATGGGTTTTTTGAC	0.398000													40	106					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197183995	197183995	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:197183995G>A	ENST00000260983.2	-	9	1801	c.1619C>T	c.(1618-1620)tCc>tTc	p.S540F	HECW2_ENST00000409111.1_Missense_Mutation_p.S184F	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	540					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TGCAGGTAAGGAGCTCTCTGC	0.562000													16	54					0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138738986	138738986	+	Missense_Mutation	SNP	C	C	T	rs141791557	byFrequency	TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:138738986C>T	ENST00000329447.5	-	1	782	c.518G>A	c.(517-519)gGc>gAc	p.G173D	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	173										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGCGGCTGAGCCGGTTGGGGA	0.647000													18	37					0	0	1	0	0
C1QBP	708	broad.mit.edu	37	17	5338248	5338248	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:5338248G>A	ENST00000225698.4	-	3	503	c.422C>T	c.(421-423)cCa>cTa	p.P141L	C1QBP_ENST00000574444.1_Missense_Mutation_p.P37L	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding protein	141					blood coagulation, intrinsic pathway|immune response|interspecies interaction between organisms	mitochondrial matrix|nucleus|plasma membrane				lung(2)|ovary(1)	3						ATCAAATGTTGGTGGGATGCT	0.453000													23	69					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19360599	19360599	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:19360599G>A	ENST00000252575.5	+	15	3888	c.3845G>A	c.(3844-3846)cGa>cAa	p.R1282Q	NCAN_ENST00000538881.1_Missense_Mutation_p.R733Q	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1282				R -> G (in Ref. 1; AAC80576).	axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CGGATGCGGCGAcaccaccac	0.592000													15	36					0	0	1	0	0
MINK1	50488	broad.mit.edu	37	17	4796787	4796787	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:4796787C>T	ENST00000355280.6	+	21	2655	c.2459C>T	c.(2458-2460)gCc>gTc	p.A820V	MINK1_ENST00000347992.7_Missense_Mutation_p.A791V|MINK1_ENST00000453408.3_Missense_Mutation_p.A800V	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	820					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CCCAAGAAGGCCATGGACTAC	0.647000													17	55					0	0	1	0	0
STARD4	134429	broad.mit.edu	37	5	110835665	110835665	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:110835665C>T	ENST00000296632.3	-	6	671	c.537G>A	c.(535-537)ggG>ggA	p.G179G	STARD4_ENST00000512160.1_3'UTR	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	179	START.				lipid transport		lipid binding	p.G179G(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		GAGGAATCATCCCACGCAGAT	0.413000													29	118					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163360985	163360985	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:163360985G>A	ENST00000332142.5	-	6	1195	c.1096C>T	c.(1096-1098)Cga>Tga	p.R366*	KCNH7_ENST00000328032.4_Nonsense_Mutation_p.R359*|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	366					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TTGTGTGTTCGATCTTTAACC	0.373000													59	126					0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53005026	53005026	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:53005026G>A	ENST00000305748.3	-	6	1106	c.1072C>T	c.(1072-1074)Caa>Taa	p.Q358*	RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	358	Coil 2.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CGCAGTCTTTGGATGAGACGG	0.552000													21	93					0	0	1	0	0
MAPK11	5600	broad.mit.edu	37	22	50705394	50705394	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr22:50705394G>A	ENST00000330651.6	-	7	679	c.579C>T	c.(577-579)atC>atT	p.I193I	MAPK11_ENST00000449719.2_Silent_p.I85I	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	193	Protein kinase.				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|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			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGTTGAGCATGATCTCAGGTG	0.642000													9	37					0	0	1	0	0
IL20RB	53833	broad.mit.edu	37	3	136714338	136714338	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:136714338G>A	ENST00000329582.4	+	6	1014	c.765G>A	c.(763-765)tgG>tgA	p.W255*	IL20RB_ENST00000309741.5_3'UTR	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	255						integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						TGTTCGTCTGGAAAATGGGCC	0.502000													65	234					0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187172926	187172926	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:187172926C>T	ENST00000264690.6	+	10	1242	c.1055C>T	c.(1054-1056)tCt>tTt	p.S352F	KLKB1_ENST00000513864.1_Missense_Mutation_p.S352F	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	352	Apple 4.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TTAAGATTATCTATGGATGGT	0.418000													32	116					0	0	1	0	0
BBS4	585	broad.mit.edu	37	15	73023728	73023728	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:73023728C>T	ENST00000268057.4	+	11	835	c.794C>T	c.(793-795)gCt>gTt	p.A265V	BBS4_ENST00000539603.1_Missense_Mutation_p.A253V|BBS4_ENST00000542334.1_Missense_Mutation_p.A93V|BBS4_ENST00000395205.2_Missense_Mutation_p.A273V	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	265	Interaction with PCM1.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GTGGCTTGTGCTGTTCCAGAA	0.478000									Bardet-Biedl syndrome				13	47					0	0	1	0	0
DMC1	11144	broad.mit.edu	37	22	38948707	38948707	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr22:38948707G>A	ENST00000216024.2	-	7	661	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C	DMC1_ENST00000428462.2_Missense_Mutation_p.R129C	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	129					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					TTTCCAGTACGAAATTCTGTG	0.274000								Homologous recombination					12	39					0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113320486	113320486	+	Missense_Mutation	SNP	G	G	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:113320486G>T	ENST00000264852.4	+	11	1823	c.1097G>T	c.(1096-1098)gGg>gTg	p.G366V	SIDT1_ENST00000393830.3_Missense_Mutation_p.G366V	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	366						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						ACACCCGAAGGGAGCAATTAT	0.428000													15	43					1.3612e-06	1.37488e-06	1	1	0
ZNF71	58491	broad.mit.edu	37	19	57133335	57133335	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:57133335C>T	ENST00000328070.6	+	3	914	c.680C>T	c.(679-681)tCc>tTc	p.S227F		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	227						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CGGAAGACTTCCTCTCTCACC	0.637000													11	40					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45819255	45819255	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr21:45819255G>A	ENST00000397928.1	+	14	2584	c.2139G>A	c.(2137-2139)ggG>ggA	p.G713G	TRPM2_ENST00000397932.2_Silent_p.G713G|TRPM2_ENST00000300481.9_Silent_p.G693G|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.G713G	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	713						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AGGCCTGGGGGAAGACCACCT	0.627000													12	42					0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113675607	113675607	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:113675607A>T	ENST00000003302.4	-	20	2630	c.2562T>A	c.(2560-2562)aaT>aaA	p.N854K	USP28_ENST00000545540.1_Missense_Mutation_p.N697K|USP28_ENST00000260188.5_Missense_Mutation_p.N822K|USP28_ENST00000544967.1_Missense_Mutation_p.N530K	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	854					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CATAGCTAAGATTTTTATCTG	0.453000													17	58					0	0	1	0	0
CD81-AS1	101927682	broad.mit.edu	37	11	2356726	2356726	+	RNA	SNP	A	A	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:2356726A>C	ENST00000413483.1	-	0	407				RPL26P30_ENST00000602923.1_RNA																							CTCACGCTGCACCCGCTCGAT	0.498000													25	132					0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71948210	71948210	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:71948210C>T	ENST00000298229.2	+	26	3126	c.2922C>T	c.(2920-2922)gcC>gcT	p.A974A	INPPL1_ENST00000538751.1_Silent_p.A732A|INPPL1_ENST00000541756.1_Silent_p.A732A	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	974	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GGGTGGCGGCCCCCCCACCCA	0.637000													33	102					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39880262	39880262	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:39880262G>A	ENST00000260356.5	+	9	1479	c.1314G>A	c.(1312-1314)tgG>tgA	p.W438*		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	438	TSP type-1 2.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	ATGGTGGCTGGAGCCACTGGT	0.522000													20	82					0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21712622	21712622	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:21712622C>T	ENST00000261195.2	-	9	1446	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	398					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCAAACTTTTCCTTCACAGAA	0.294000													7	25					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25232160	25232160	+	RNA	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:25232160G>A	ENST00000551631.2	+	0	887				SNHG14_ENST00000551361.1_RNA	NR_001293.1																						GCTAATTCATGATCAAAGTAA	0.388000													10	35					0	0	1	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883616	19883616	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:19883616G>A	ENST00000300571.2	-	2	743	c.552C>T	c.(550-552)acC>acT	p.T184T	GPRC5B_ENST00000569847.1_Silent_p.T184T|GPRC5B_ENST00000569479.1_Silent_p.T184T|GPRC5B_ENST00000535671.1_Silent_p.T184T|GPRC5B_ENST00000537135.1_Silent_p.T210T	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	184										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CACGCAGCACGGTGAGCACCA	0.652000													10	67					0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17672607	17672607	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:17672607G>A	ENST00000375448.4	+	9	1046	c.1020G>A	c.(1018-1020)gaG>gaA	p.E340E	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	340					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GCCCTGAGGAGGAGAACATGG	0.552000													19	34					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38810498	38810498	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:38810498G>A	ENST00000359357.3	+	33	4267	c.4013G>A	c.(4012-4014)aGa>aAa	p.R1338K	DNAH8_ENST00000449981.2_Missense_Mutation_p.R1555K|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1338K					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTCAAAAAGAGAATTGATGAT	0.378000													30	73					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141232749	141232749	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:141232749G>A	ENST00000389484.3	-	60	10554	c.9583C>T	c.(9583-9585)Cac>Tac	p.H3195Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3195					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATTCAATGTGATTTTCATCG	0.338000										TSP Lung(27;0.18)			27	71					0	0	1	0	0
CHIA	27159	broad.mit.edu	37	1	111857955	111857955	+	Silent	SNP	C	C	T	rs41282498		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:111857955C>T	ENST00000369740.1	+	6	481	c.378C>T	c.(376-378)ttC>ttT	p.F126F	CHIA_ENST00000430615.1_Silent_p.F18F|CHIA_ENST00000343320.6_Silent_p.F126F|CHIA_ENST00000353665.6_Intron|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000451398.2_5'UTR	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	126					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		TCATCAAATTCCTGCGCCAGT	0.547000													88	80					0	0	1	0	0
OLAH	55301	broad.mit.edu	37	10	15115107	15115107	+	Missense_Mutation	SNP	G	G	A	rs139895854		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:15115107G>A	ENST00000378217.3	+	9	1023	c.836G>A	c.(835-837)gGa>gAa	p.G279E	OLAH_ENST00000485251.1_3'UTR|OLAH_ENST00000378228.3_Missense_Mutation_p.G226E	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	226					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						GTAACCAGTGGAAATGCTAAA	0.353000													13	55					0	0	1	0	0
GPR124	25960	broad.mit.edu	37	8	37688326	37688326	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:37688326C>T	ENST00000315215.7	+	7	1180	c.817C>T	c.(817-819)Ctg>Ttg	p.L273L	GPR124_ENST00000412232.2_Silent_p.L273L			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	273	Ig-like.				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TGCCAGCTACCTGGGCAACGA	0.657000													6	8					0	0	1	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62645964	62645964	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:62645964C>T	ENST00000337910.5	-	7	1818	c.1481G>A	c.(1480-1482)gGa>gAa	p.G494E	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.G494E	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	494	BTB 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					ACTGATGGCTCCATCGTCCAA	0.522000													30	57					0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34100929	34100929	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:34100929G>A	ENST00000374181.3	-	1	514	c.345C>T	c.(343-345)gcC>gcT	p.A115A	GRM4_ENST00000538487.1_Silent_p.A115A|GRM4_ENST00000374177.3_Intron	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	115					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	ACTGCTCGAGGGCATGGGTGT	0.627000													8	23					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50105096	50105096	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:50105096C>T	ENST00000418929.2	+	6	4706	c.4694C>T	c.(4693-4695)gCc>gTc	p.A1565V		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	744							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GACGAGGAGGCCGGCGAGAGT	0.667000													9	19					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57647171	57647171	+	Silent	SNP	T	T	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:57647171T>C	ENST00000269834.1	-	5	919	c.534A>G	c.(532-534)tcA>tcG	p.S178S		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGCGTGACTTTGAACTGAATA	0.408000													49	157					0	0	1	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140734937	140734937	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:140734937G>A	ENST00000571252.1	+	1	170	c.170G>A	c.(169-171)cGg>cAg	p.R57Q	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGCGCCCCGGGAGCTGGCG	0.632000													28	84					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26219534	26219534	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr22:26219534G>A	ENST00000335473.7	+	13	2834	c.2584G>A	c.(2584-2586)Gag>Aag	p.E862K	MYO18B_ENST00000536101.1_Missense_Mutation_p.E862K|MYO18B_ENST00000407587.2_Missense_Mutation_p.E862K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	862	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCTGGGCTGCGAGTATGAGGA	0.582000													42	131					0	0	1	0	0
ERMARD	55780	broad.mit.edu	37	6	170156844	170156844	+	Silent	SNP	C	C	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:170156844C>A	ENST00000588451.1	+	5	582	c.69C>A	c.(67-69)ccC>ccA	p.P23P	C6orf70_ENST00000392095.4_Silent_p.P23P|C6orf70_ENST00000366772.2_Silent_p.P149P|C6orf70_ENST00000366773.3_Silent_p.P149P|C6orf70_ENST00000418781.3_Silent_p.P149P			Q5T6L9	CF070_HUMAN		149						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		AGGAATGCCCCTTTCTTTTAA	0.348000													27	82					2.61193e-14	2.67175e-14	1	1	0
TEX9	374618	broad.mit.edu	37	15	56681579	56681579	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:56681579G>A	ENST00000558083.2	+	5	481	c.151G>A	c.(151-153)Gga>Aga	p.G51R	TEX9_ENST00000561221.2_Missense_Mutation_p.G126R|TEX9_ENST00000537232.1_Missense_Mutation_p.G51R|TEX9_ENST00000352903.2_Missense_Mutation_p.G126R			Q8N6V9	TEX9_HUMAN	testis expressed 9	126										cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		TGCAAATAAAGGAAGGAAAAC	0.274000													6	30					0	0	1	0	0
DHX38	9785	broad.mit.edu	37	16	72132628	72132628	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:72132628C>T	ENST00000268482.3	+	5	1210	c.701C>T	c.(700-702)tCc>tTc	p.S234F	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	234					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GAATCGCCCTCCCCGACGCCT	0.602000													8	39					0	0	1	0	0
KIAA1586	57691	broad.mit.edu	37	6	56917839	56917839	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:56917839C>T	ENST00000370733.4	+	4	749	c.542C>T	c.(541-543)tCc>tTc	p.S181F	KIAA1586_ENST00000545356.1_Missense_Mutation_p.S154F|KIAA1586_ENST00000488682.1_3'UTR	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	181							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GTCCATGTGTCCAAGGAATGG	0.363000													27	99					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95579448	95579448	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:95579448G>A	ENST00000526495.1	-	14	2312	c.2021C>T	c.(2020-2022)cCt>cTt	p.P674L	DICER1_ENST00000527414.1_Missense_Mutation_p.P674L|DICER1_ENST00000541352.1_Missense_Mutation_p.P674L|DICER1_ENST00000343455.3_Missense_Mutation_p.P674L|DICER1_ENST00000393063.1_Missense_Mutation_p.P674L			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	674	Dicer dsRNA-binding fold.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GGCTCGAAGAGGTGAGTTAAT	0.363000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				13	56					0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90648060	90648060	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:90648060G>A	ENST00000257749.4	-	8	2553	c.1846C>T	c.(1846-1848)Cct>Tct	p.P616S	BACH2_ENST00000537989.1_Missense_Mutation_p.P616S|BACH2_ENST00000343122.3_Missense_Mutation_p.P616S	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	616						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		ACAGGAAAAGGAAGTTTTACC	0.353000													5	53					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90502088	90502088	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:90502088G>A	ENST00000325643.5	+	4	2752	c.2686G>A	c.(2686-2688)Gga>Aga	p.G896R		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CATTTTCCTGGGAAAACGTCC	0.597000													20	34					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175365849	175365849	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:175365849G>A	ENST00000367674.1	-	5	1779	c.1071C>T	c.(1069-1071)atC>atT	p.I357I	TNR_ENST00000263525.2_Silent_p.I357I	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	357	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GCTGGTAAGAGATCACATATT	0.622000													47	55					0	0	1	0	0
SLC25A17	10478	broad.mit.edu	37	22	41195056	41195056	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr22:41195056G>A	ENST00000435456.2	-	2	219	c.86C>T	c.(85-87)cCc>cTc	p.P29L	SLC25A17_ENST00000542412.1_Missense_Mutation_p.P29L|SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000544408.1_5'UTR	NM_006358.2	NP_006349.1	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	29					fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						TGTATCCAGGGGAAAAAACAC	0.363000													17	30					0	0	1	0	0
ORAI2	80228	broad.mit.edu	37	7	102087295	102087295	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:102087295C>T	ENST00000356387.2	+	4	796	c.561C>T	c.(559-561)ggC>ggT	p.G187G	ORAI2_ENST00000473939.1_Silent_p.G187G|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000403646.3_Silent_p.G187G|ORAI2_ENST00000478730.1_Silent_p.G187G	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	187						integral to membrane	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						CCCCACCTGGCCCTGGGAGTC	0.657000													13	67					0	0	1	0	0
SMARCB1	6598	broad.mit.edu	37	22	24167438	24167438	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr22:24167438C>T	ENST00000344921.6	+	7	1056	c.849C>T	c.(847-849)tcC>tcT	p.S283S	SMARCB1_ENST00000407422.3_Silent_p.S265S|SMARCB1_ENST00000263121.7_Silent_p.S274S|SMARCB1_ENST00000407082.3_Silent_p.S228S|SMARCB1_ENST00000477836.1_3'UTR			Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	274	2 X approximate tandem repeats.				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(6)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				GAAACATTTCCCTGGTGGACC	0.572000			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid							26	81					0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537407	5537407	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:5537407C>T	ENST00000380184.1	-	1	528	c.265G>A	c.(265-267)Ggc>Agc	p.G89S	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	89	Ubiquitin-like.									endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		TCCATGATGCCCCTCTGGCTC	0.532000													10	79					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90167737	90167737	+	Missense_Mutation	SNP	A	A	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:90167737A>C	ENST00000268138.7	+	20	4301	c.4196A>C	c.(4195-4197)cAg>cCg	p.Q1399P	TICRR_ENST00000560985.1_Missense_Mutation_p.Q1398P|KIF7_ENST00000558928.1_Intron					TOPBP1-interacting checkpoint and replication regulator																		GTGGAGTGTCAGCCTGATGCC	0.577000													40	132					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1271501	1271501	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:1271501G>A	ENST00000447027.1	+	31	13458	c.13400G>A	c.(13399-13401)gGa>gAa	p.G4467E	MUC5B_ENST00000529681.1_Missense_Mutation_p.G4464E			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4464	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.G4464E(1)|p.G4419E(1)		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)		GTGCCCACCGGATCCACGGCC	0.672000													29	117					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104126850	104126850	+	Missense_Mutation	SNP	G	G	A	rs147807697	by1000genomes	TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:104126850G>A	ENST00000388887.2	+	51	5554	c.5350G>A	c.(5350-5352)Gac>Aac	p.D1784N		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1784	FAS1 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.D1784N(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTGGCCCACCGACCAAGCCCT	0.522000													44	118					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123797169	123797169	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:123797169G>A	ENST00000223642.1	-	5	525	c.496C>T	c.(496-498)Cct>Tct	p.P166S		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	166					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	GATCCTTCAGGATCCTGTAAA	0.299000													9	19					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166026969	166026969	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:166026969C>T	ENST00000360093.3	-	4	845	c.354G>A	c.(352-354)agG>agA	p.R118R	SCN3A_ENST00000409101.3_Silent_p.R118R|SCN3A_ENST00000283254.7_Silent_p.R118R	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	118						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TAGCAATTTTCCTAACAGGGT	0.303000													14	42					0	0	1	0	0
H1FNT	341567	broad.mit.edu	37	12	48723737	48723737	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:48723737G>A	ENST00000335017.1	+	1	975	c.663G>A	c.(661-663)gtG>gtA	p.V221V		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	221					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						GACAGGCCGTGAAGGAAGACA	0.667000													6	13					0	0	1	0	0
KIF3C	3797	broad.mit.edu	37	2	26152834	26152834	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:26152834G>A	ENST00000264712.3	-	6	2684	c.2105C>T	c.(2104-2106)cCc>cTc	p.P702L	KIF3C_ENST00000496378.1_5'UTR|KIF3C_ENST00000405914.1_Missense_Mutation_p.P702L	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	702	Globular (Potential).				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGTACCTGGGGTGGGACCC	0.607000													35	84					0	0	1	0	0
CLEC3A	10143	broad.mit.edu	37	16	78056532	78056532	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:78056532G>A	ENST00000299642.4	+	1	121	c.36G>A	c.(34-36)aaG>aaA	p.K12K	RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000575655.1_Silent_p.K3K	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	3					skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						CCATGGCAAAGAATGGACTTG	0.532000													8	27					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128294930	128294930	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:128294930C>T	ENST00000368227.3	-	29	4429	c.4063G>A	c.(4063-4065)Gga>Aga	p.G1355R	PTPRK_ENST00000368213.5_Missense_Mutation_p.G1344R|PTPRK_ENST00000532331.1_Missense_Mutation_p.G1360R|PTPRK_ENST00000368207.3_Missense_Mutation_p.G1370R|PTPRK_ENST00000368210.3_Missense_Mutation_p.G1356R|PTPRK_ENST00000368215.3_Missense_Mutation_p.G1337R|PTPRK_ENST00000368226.4_Missense_Mutation_p.G1338R			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1337	Tyrosine-protein phosphatase 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GAAGCCCATCCTAGGTACTGA	0.443000													20	90					0	0	1	0	0
YIPF7	285525	broad.mit.edu	37	4	44624459	44624459	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:44624459C>T	ENST00000332990.5	-	6	831	c.815G>A	c.(814-816)gGa>gAa	p.G272E		NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	272						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						GGCAAAAAGTCCATAAAGTAT	0.398000													5	39					0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143095983	143095983	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:143095983G>A	ENST00000275815.3	-	6	1133	c.1047C>T	c.(1045-1047)tcC>tcT	p.S349S		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	349	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CCCAACGCAGGGAGAGCTGAG	0.637000													4	26					0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26917263	26917263	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:26917263C>T	ENST00000539517.2	-	5	1743	c.1426G>A	c.(1426-1428)Gga>Aga	p.G476R	NOVA1_ENST00000267422.7_Missense_Mutation_p.G354R|NOVA1_ENST00000465357.2_Missense_Mutation_p.G452R	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	479	KH 3.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GCTGGTGTTCCAGTAATGGTT	0.448000													6	49					0	0	1	0	0
SET	6418	broad.mit.edu	37	9	131455163	131455163	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:131455163C>T	ENST00000322030.8	+	5	752	c.395C>T	c.(394-396)cCt>cTt	p.P132L	SET_ENST00000477806.1_3'UTR|SET_ENST00000409104.3_Missense_Mutation_p.P123L|SET_ENST00000372692.4_Missense_Mutation_p.P145L|SET_ENST00000372688.4_Missense_Mutation_p.P121L	NM_003011.3	NP_003002.2	Q01105	SET_HUMAN	SET nuclear oncogene	145					DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		GATGAAAATCCTTACTTTGAA	0.333000			T	NUP214	AML								4	29					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42172063	42172063	+	Splice_Site	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:42172063C>T	ENST00000320955.6	-	15	3039		c.e15-1			NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5						actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGAGGAAGTTCTAGGGAAAAG	0.562000													14	33					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161508766	161508766	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:161508766C>T	ENST00000392142.4	+	10	2751	c.2603C>T	c.(2602-2604)aCt>aTt	p.T868I	MAP3K4_ENST00000348824.7_Missense_Mutation_p.T868I|MAP3K4_ENST00000366919.2_Missense_Mutation_p.T868I|MAP3K4_ENST00000366920.2_Missense_Mutation_p.T868I	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	868					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GTTCCAGACACTCTTGCTGAG	0.393000													23	81					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19737500	19737500	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr21:19737500G>A	ENST00000284885.3	-	7	763	c.730C>T	c.(730-732)Cca>Tca	p.P244S		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	244	CUB 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GAAGGTTTTGGATAATGAGTA	0.368000													21	85					0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87029358	87029358	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:87029358C>T	ENST00000370563.3	+	4	505	c.463C>T	c.(463-465)Cat>Tat	p.H155Y	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	155						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		ACTGTTTGTCCATGAGTGGGC	0.398000													16	46					0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36615273	36615273	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:36615273C>T	ENST00000311485.3	-	2	607	c.446G>A	c.(445-447)gGg>gAg	p.G149E		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	149					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				CATACTTTTCCCTCGGCTGTA	0.453000									Familial Hemophagocytic Lymphohistiocytosis				26	125					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13445223	13445223	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:13445223G>A	ENST00000360228.5	-	8	1166	c.1167C>T	c.(1165-1167)ctC>ctT	p.L389L	CACNA1A_ENST00000573710.2_Silent_p.L389L	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	389	Binding to the beta subunit (By similarity).		L -> F (in EA2; dbSNP:rs121908239).		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)	TGTACCCATTGAGCTCACGTT	0.542000													17	64					0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25486139	25486139	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr13:25486139G>A	ENST00000381884.4	-	3	698	c.513C>T	c.(511-513)ctC>ctT	p.L171L	CENPJ_ENST00000545981.1_Silent_p.L171L	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	171					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GTTCTTCCATGAGTCTCTGTA	0.408000													24	84					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101593579	101593579	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:101593579C>T	ENST00000284395.5	+	27	4399	c.3999C>T	c.(3997-3999)ctC>ctT	p.L1333L	LRRK1_ENST00000388948.3_Silent_p.L1336L|RP11-505E24.2_ENST00000559857.1_RNA			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1336	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCTGGAGCTCGCGCCGCTCA	0.721000													4	36					0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42683150	42683150	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr20:42683150G>A	ENST00000358131.5	+	5	1098	c.890G>A	c.(889-891)gGa>gAa	p.G297E	TOX2_ENST00000435864.2_Missense_Mutation_p.G166E|TOX2_ENST00000423191.1_Missense_Mutation_p.G246E|TOX2_ENST00000341197.3_Missense_Mutation_p.G288E|TOX2_ENST00000372999.1_Missense_Mutation_p.G246E	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GACAGCCTGGGAGAGGAACAG	0.567000													10	28					0	0	1	0	0
LINC01098	285501	broad.mit.edu	37	4	178897055	178897055	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:178897055G>A	ENST00000507870.1	+	5	720	c.258G>A	c.(256-258)caG>caA	p.Q86Q																	lung(8)|prostate(1)	9						AGAGCCTACAGAATGTGTCTG	0.398000													32	110					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15734639	15734639	+	Silent	SNP	C	C	T	rs139672715		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:15734639C>T	ENST00000281171.4	+	23	3489	c.3159C>T	c.(3157-3159)ttC>ttT	p.F1053F	PTPRO_ENST00000544244.1_Silent_p.F214F|PTPRO_ENST00000445537.2_Silent_p.F242F|PTPRO_ENST00000442921.2_Silent_p.F242F|PTPRO_ENST00000542557.1_Silent_p.F214F|PTPRO_ENST00000348962.2_Silent_p.F1025F	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1053	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ACTGGCCATTCACGGAAGAAC	0.433000													19	81					0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71549834	71549834	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:71549834G>A	ENST00000265382.3	+	13	1535	c.1230G>A	c.(1228-1230)cgG>cgA	p.R410R	PIP5K1B_ENST00000541509.1_Silent_p.R410R	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	410						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CTAAGAAACGGTGCAATTCAA	0.408000													16	55					0	0	1	0	0
SWI5	375757	broad.mit.edu	37	9	131038500	131038500	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:131038500C>T	ENST00000320188.4	+	1	76	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W		NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	26					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										CCGCCCACCTCGGGAGAGGGG	0.672000													8	42					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82416062	82416062	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:82416062C>T	ENST00000370728.1	+	9	2033	c.1388C>T	c.(1387-1389)cCc>cTc	p.P463L	LPHN2_ENST00000370717.2_Missense_Mutation_p.P463L|LPHN2_ENST00000370725.1_Missense_Mutation_p.P463L|LPHN2_ENST00000370713.1_Missense_Mutation_p.P463L|LPHN2_ENST00000370727.1_Missense_Mutation_p.P463L|LPHN2_ENST00000359929.3_Missense_Mutation_p.P463L|LPHN2_ENST00000370721.1_Intron|LPHN2_ENST00000335786.5_Missense_Mutation_p.P463L|LPHN2_ENST00000370730.1_Missense_Mutation_p.P463L|LPHN2_ENST00000319517.6_Missense_Mutation_p.P463L|LPHN2_ENST00000370715.1_Missense_Mutation_p.P463L|LPHN2_ENST00000394879.1_Missense_Mutation_p.P463L|LPHN2_ENST00000271029.4_Missense_Mutation_p.P463L|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Missense_Mutation_p.P463L			O95490	LPHN2_HUMAN	latrophilin 2	463					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AATATTTTTCCCCTGCCAGAG	0.458000													23	29					0	0	1	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10551263	10551263	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:10551263A>G	ENST00000396560.2	+	7	1456	c.1229A>G	c.(1228-1230)aAt>aGt	p.N410S	ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.N410S|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.N410S|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.N410S	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						TTGGATAAGAATCTTGAGTCA	0.318000													33	83					0	0	1	0	0
RASA4CP	401331	broad.mit.edu	37	7	44073693	44073693	+	RNA	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:44073693G>A	ENST00000446874.1	-	0	419																											GCACAGCAGGGCTCACGGTCC	0.622000													3	6					0	0	1	0	0
TRAV26-2	28656	broad.mit.edu	37	14	22671075	22671075	+	RNA	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:22671075C>T	ENST00000390460.1	+	0	140																											ATCAGTGGAACTGATTACATA	0.463000													12	54					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47039692	47039692	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:47039692C>T	ENST00000450053.3	+	21	3273	c.3094C>T	c.(3094-3096)Ctc>Ttc	p.L1032F	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.L1032F	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1032							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCTCTGGACCCTCAGTGACTT	0.617000													6	19					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38645360	38645360	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:38645360G>A	ENST00000413689.1	-	12	1926	c.1733C>T	c.(1732-1734)cCc>cTc	p.P578L	SCN5A_ENST00000425664.1_Missense_Mutation_p.P578L|SCN5A_ENST00000423572.2_Missense_Mutation_p.P578L|SCN5A_ENST00000414099.2_Missense_Mutation_p.P578L|SCN5A_ENST00000333535.4_Missense_Mutation_p.P578L|SCN5A_ENST00000455624.2_Missense_Mutation_p.P578L|SCN5A_ENST00000451551.2_Missense_Mutation_p.P578L|SCN5A_ENST00000450102.2_Missense_Mutation_p.P578L|SCN5A_ENST00000449557.2_Missense_Mutation_p.P578L|SCN5A_ENST00000443581.1_Missense_Mutation_p.P578L	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	578					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CGAGGTTCCGGGACTGGGCTG	0.647000													27	102					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24578724	24578724	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:24578724C>T	ENST00000319715.4	+	15	2282	c.1850C>T	c.(1849-1851)tCa>tTa	p.S617L	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.S617L	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	617					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CCTTGGGTATCATCAGGAGTG	0.507000													49	201					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65180387	65180387	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr18:65180387C>T	ENST00000310045.7	-	2	2962	c.1489G>A	c.(1489-1491)Gaa>Aaa	p.E497K	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	487						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TAGAGAGCTTCAGAAACAAAT	0.453000													23	95					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139371256	139371256	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:139371256G>A	ENST00000313050.7	-	1	885	c.812C>T	c.(811-813)cCc>cTc	p.P271L	SEC16A_ENST00000371706.3_Missense_Mutation_p.P93L|SEC16A_ENST00000290037.6_Missense_Mutation_p.P93L|SEC16A_ENST00000431893.2_Missense_Mutation_p.P93L	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	93					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGCTGCTGGGGGAGCCACCAG	0.597000													6	25					0	0	1	0	0
ETV7	51513	broad.mit.edu	37	6	36334677	36334677	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:36334677C>T	ENST00000373738.1	-	6	1563	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	ETV7_ENST00000373737.4_Missense_Mutation_p.E218K|ETV7_ENST00000340181.4_Missense_Mutation_p.E295K|ETV7_ENST00000538992.1_Missense_Mutation_p.E144K|ETV7_ENST00000339796.5_Missense_Mutation_p.E295K	NM_001207036.1	NP_001193965.1	Q9Y603	ETV7_HUMAN	ets variant 7	295					organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						TGCCCCGGTTCCTTCTTAATG	0.542000													75	277					0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103901026	103901026	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:103901026C>T	ENST00000278070.2	+	5	2800	c.2761C>T	c.(2761-2763)Cca>Tca	p.P921S	PPRC1_ENST00000413464.2_Missense_Mutation_p.P921S	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	921	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TGCCCCCTTGCCATCCTGGCC	0.592000													16	72					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597327	136597327	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:136597327C>T	ENST00000531224.1	-	5	1588	c.1336G>A	c.(1336-1338)Ggc>Agc	p.G446S	BCLAF1_ENST00000527536.1_Missense_Mutation_p.G446S|BCLAF1_ENST00000353331.4_Missense_Mutation_p.G444S|BCLAF1_ENST00000527759.1_Missense_Mutation_p.G444S|BCLAF1_ENST00000392348.2_Missense_Mutation_p.G444S|BCLAF1_ENST00000530767.1_Intron	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	446					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTCTATTGCCTTTCAGTGAA	0.393000													10	206					0	0	1	0	0
ABLIM2	84448	broad.mit.edu	37	4	8009831	8009831	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:8009831C>T	ENST00000318888.4	-	15	1547	c.676G>A	c.(676-678)Gac>Aac	p.D226N	ABLIM2_ENST00000546334.1_Missense_Mutation_p.D450N|ABLIM2_ENST00000407564.3_Missense_Mutation_p.D440N|ABLIM2_ENST00000341937.5_Missense_Mutation_p.D491N|ABLIM2_ENST00000361581.5_Missense_Mutation_p.D491N|ABLIM2_ENST00000505872.1_Missense_Mutation_p.D439N|ABLIM2_ENST00000514025.1_Missense_Mutation_p.D226N|ABLIM2_ENST00000447017.2_Missense_Mutation_p.D525N|ABLIM2_ENST00000428004.2_Missense_Mutation_p.D451N|ABLIM2_ENST00000296372.8_Missense_Mutation_p.D492N|ABLIM2_ENST00000361737.5_Missense_Mutation_p.D450N|ABLIM2_ENST00000545242.1_Missense_Mutation_p.D491N			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	491	LIM zinc-binding 4.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding	p.D525N(1)		NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GGGTCTCTGTCGGTCCCGCTG	0.562000													35	112					0	0	1	0	0
ADNP	23394	broad.mit.edu	37	20	49509384	49509384	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr20:49509384G>A	ENST00000396029.3	-	5	2434	c.1867C>T	c.(1867-1869)Ctt>Ttt	p.L623F	ADNP_ENST00000371602.4_Missense_Mutation_p.L623F|ADNP_ENST00000396032.3_Missense_Mutation_p.L623F|ADNP_ENST00000349014.3_Missense_Mutation_p.L623F	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	623						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						AGAGGACAAAGGGTTTTCCCA	0.443000													80	240					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10348126	10348126	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:10348126C>T	ENST00000255381.2	-	38	5667	c.5557G>A	c.(5557-5559)Gaa>Aaa	p.E1853K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1853					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TAAGTGAGTTCCTTCACTCTT	0.428000													32	112					0	0	1	0	0
ERAP1	51752	broad.mit.edu	37	5	96139153	96139153	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:96139153G>A	ENST00000296754.3	-	2	734	c.477C>T	c.(475-477)ttC>ttT	p.F159F	ERAP1_ENST00000443439.2_Silent_p.F159F	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	159					angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		AAAATCCGTGGAAAGTCTCCG	0.478000													22	86					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563687	140563687	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:140563687C>T	ENST00000361016.2	+	1	2708	c.1553C>T	c.(1552-1554)tCg>tTg	p.S518L		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		518	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCTCAGGTCGCTGGACTAC	0.697000													39	48					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39016011	39016011	+	Missense_Mutation	SNP	C	C	T	rs147058802		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:39016011C>T	ENST00000355481.4	+	70	10611	c.10480C>T	c.(10480-10482)Cgg>Tgg	p.R3494W	RYR1_ENST00000360985.3_Missense_Mutation_p.R3499W|RYR1_ENST00000359596.3_Missense_Mutation_p.R3499W	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3499					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAAGAAGCGCCGGGGGGACCG	0.632000													18	75					0	0	1	0	0
SFRP2	6423	broad.mit.edu	37	4	154702753	154702753	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:154702753G>A	ENST00000274063.4	-	3	1022	c.738C>T	c.(736-738)acC>acT	p.T246T		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	246	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				TCTCCTCACAGGTGCACTGCA	0.557000													19	74					0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159410378	159410378	+	Missense_Mutation	SNP	C	C	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:159410378C>G	ENST00000423932.3	+	1	867	c.830C>G	c.(829-831)aCc>aGc	p.T277S	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	277					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TCAGAGAACACCAGAGAACAT	0.512000													59	67					0	0	1	0	0
ALOX15B	247	broad.mit.edu	37	17	7950012	7950012	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:7950012C>T	ENST00000380183.4	+	9	1366	c.1227C>T	c.(1225-1227)acC>acT	p.T409T	ALOX15B_ENST00000572022.1_Silent_p.T409T|ALOX15B_ENST00000573359.1_Intron|ALOX15B_ENST00000380173.2_Intron	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	409	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CCCGATACACCCTGCACATCA	0.627000													9	24					0	0	1	0	0
METTL25	84190	broad.mit.edu	37	12	82796832	82796832	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:82796832A>G	ENST00000248306.3	+	5	1271	c.1202A>G	c.(1201-1203)aAc>aGc	p.N401S	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2			methyltransferase like 25																		TTTACCTCCAACTCTGAAATC	0.383000													12	45					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112654696	112654696	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:112654696G>A	ENST00000550722.1	-	47	7223	c.6828C>T	c.(6826-6828)atC>atT	p.I2276I	HECTD4_ENST00000377560.5_Silent_p.I2250I|HECTD4_ENST00000430131.2_Silent_p.I2000I	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4									p.I2000I(1)|p.I2250I(1)									CATAGGAAACGATTTCAATTT	0.493000													21	77					0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210970866	210970866	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:210970866C>T	ENST00000367007.4	-	9	1987	c.1818G>A	c.(1816-1818)gaG>gaA	p.E606E	KCNH1_ENST00000271751.4_Silent_p.E633E	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	633					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGGCCACCACCTCATCATCTT	0.557000													56	67					0	0	1	0	0
EHHADH	1962	broad.mit.edu	37	3	184910033	184910033	+	Missense_Mutation	SNP	G	G	A	rs140662313		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:184910033G>A	ENST00000231887.3	-	7	2228	c.2153C>T	c.(2152-2154)tCc>tTc	p.S718F	EHHADH_ENST00000456310.1_Missense_Mutation_p.S622F	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	718						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	ACTGCTAGGGGAGCCTGCCAA	0.433000													29	72					0	0	1	0	0
KDM1A	23028	broad.mit.edu	37	1	23381647	23381647	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:23381647C>T	ENST00000400181.4	+	6	980	c.876C>T	c.(874-876)ccC>ccT	p.P292P	KDM1A_ENST00000542151.1_Silent_p.P292P|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000356634.3_Silent_p.P272P	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	272					blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GGATAAAACCCCTACCAAGTA	0.378000													83	103					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6682195	6682195	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:6682195G>A	ENST00000245907.6	-	34	4310	c.4218C>T	c.(4216-4218)tcC>tcT	p.S1406S		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1406					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CAGTCATCATGGATATGTCCA	0.542000													19	78					0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275418	71275418	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:71275418C>T	ENST00000399575.2	+	3	547	c.373C>T	c.(373-375)Cct>Tct	p.P125S	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	125	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				ACCCCCATTTCCTCCTATTCC	0.413000													36	112					0	0	1	0	0
OR5K4	403278	broad.mit.edu	37	3	98073443	98073443	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:98073443C>T	ENST00000354924.2	+	1	746	c.746C>T	c.(745-747)tCa>tTa	p.S249L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						CTCTCTGTCTCAATATTTTAC	0.358000													23	79					0	0	1	0	0
ZBTB44	29068	broad.mit.edu	37	11	130108498	130108498	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:130108498C>T	ENST00000525842.1	-	4	1475	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K	ZBTB44_ENST00000357899.4_Missense_Mutation_p.E370K|ZBTB44_ENST00000530205.1_Missense_Mutation_p.E370K|ZBTB44_ENST00000397753.1_Missense_Mutation_p.E370K	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		TGAACATTTTCCAATCTAAAA	0.393000													5	28					0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45898706	45898706	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:45898706G>A	ENST00000418234.2	-	7	1420	c.1342C>T	c.(1342-1344)Cct>Tct	p.P448S	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.P448S	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	448	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCGTTCACAGGGGGCCATGTC	0.642000													2	0					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33505195	33505195	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:33505195G>A	ENST00000404816.2	+	19	3435	c.3082G>A	c.(3082-3084)Gga>Aga	p.G1028R	LTBP1_ENST00000354476.3_Missense_Mutation_p.G1029R|LTBP1_ENST00000418533.2_Missense_Mutation_p.G702R|LTBP1_ENST00000404525.1_Missense_Mutation_p.G649R|LTBP1_ENST00000402934.1_Missense_Mutation_p.G649R|LTBP1_ENST00000407925.1_Missense_Mutation_p.G702R|LTBP1_ENST00000390003.4_Missense_Mutation_p.G703R			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1028	EGF-like 7; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTGCACAGAAGGATTCCGAGG	0.428000													22	68					0	0	1	0	0
MC5R	4161	broad.mit.edu	37	18	13826736	13826736	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr18:13826736G>A	ENST00000324750.3	+	1	1194	c.972G>A	c.(970-972)agG>agA	p.R324R		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	324					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TTCCCAGAAGGGATTAAGCAC	0.522000													14	70					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118198896	118198896	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:118198896G>A	ENST00000425217.1	-	4	873	c.819C>T	c.(817-819)atC>atT	p.I273I	KSR2_ENST00000339824.5_Silent_p.I302I	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	302	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGAATCCCGGGATCAAGTGTA	0.662000													25	119					0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17417986	17417986	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:17417986C>T	ENST00000470360.1	+	11	1682	c.1565C>T	c.(1564-1566)tCc>tTc	p.S522F	SLC7A2_ENST00000522656.1_Missense_Mutation_p.S483F|SLC7A2_ENST00000398090.3_Missense_Mutation_p.S522F|SLC7A2_ENST00000004531.10_Missense_Mutation_p.S523F|SLC7A2_ENST00000494857.1_Missense_Mutation_p.S483F			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	483					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TTCTGCCCCTCCCTTCTGCCA	0.537000													50	114					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55449566	55449566	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:55449566G>A	ENST00000588756.1	-	7	2461	c.1975C>T	c.(1975-1977)Cgc>Tgc	p.R659C	NLRP7_ENST00000592784.1_Missense_Mutation_p.R659C|NLRP7_ENST00000328092.5_Intron|NLRP7_ENST00000590030.1_Missense_Mutation_p.R659C|NLRP7_ENST00000448121.2_Intron|NLRP7_ENST00000446217.1_Missense_Mutation_p.R687C|NLRP7_ENST00000340844.2_Missense_Mutation_p.R659C			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	659							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CGAAGAGAGCGAAGATCCTGC	0.498000													22	112					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	152007158	152007158	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:152007158T>A	ENST00000355193.2	-	6	960	c.742A>T	c.(742-744)Act>Tct	p.T248S	KMT2C_ENST00000262189.6_Missense_Mutation_p.T248S					lysine (K)-specific methyltransferase 2C																		GCCCAACAAGTGCCTAAAATG	0.373000													7	34					0	0	1	0	0
MARK4	57787	broad.mit.edu	37	19	45762442	45762442	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:45762442C>T	ENST00000300843.4	+	2	544	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W	MARK4_ENST00000262891.4_Missense_Mutation_p.R83W	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	83	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCTCACTGGTCGGGAGGTGAG	0.617000													8	26					0	0	1	0	0
KRT16P6	353194	broad.mit.edu	37	17	16725522	16725522	+	RNA	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:16725522G>A	ENST00000417510.1	-	0	371																											agccaccaccgaagccagcac	0.617000													14	39					0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100933480	100933480	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:100933480C>T	ENST00000325455.5	-	4	3363	c.1910G>A	c.(1909-1911)cGa>cAa	p.R637Q	PGR_ENST00000263463.5_Intron|PGR_ENST00000534013.1_Missense_Mutation_p.R43Q	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	637					cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TTTAAATTTTCGACCTACAGA	0.358000													9	48					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15730487	15730487	+	RNA	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:15730487C>T	ENST00000441682.2	+	0	503							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						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						GTGGAGACACCACCGTCGCTT	0.502000													7	42					0	0	1	0	0
TNFAIP1	7126	broad.mit.edu	37	17	26666526	26666526	+	Translation_Start_Site	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:26666526G>A	ENST00000226225.2	+	0	246				TNFAIP1_ENST00000544907.2_Intron|TNFAIP1_ENST00000583213.1_Intron	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)						apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CCTGCCGTGTGGTGATCTACC	0.622000													4	13					0	0	1	0	0
KANSL1L	151050	broad.mit.edu	37	2	210940450	210940450	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:210940450G>A	ENST00000281772.9	-	6	1844	c.1581C>T	c.(1579-1581)tcC>tcT	p.S527S	KANSL1L_ENST00000452086.1_Silent_p.S527S|KANSL1L_ENST00000457374.1_Silent_p.S527S|KANSL1L_ENST00000418791.1_Silent_p.S527S	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	527																	AGCTACTGGAGGAAGACAGCT	0.383000													7	41					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754779	76754779	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr18:76754779G>A	ENST00000536229.3	+	1	3098	c.2389G>A	c.(2389-2391)Gaa>Aaa	p.E797K	SALL3_ENST00000537592.2_Missense_Mutation_p.E930K|SALL3_ENST00000575389.2_Missense_Mutation_p.E930K			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	943				DDDMDE -> NDNLDK (in Ref. 2; CAB65124).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GGAGCCCCAGGAAATCCCGCT	0.746000													3	14					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23915199	23915199	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr13:23915199G>A	ENST00000382298.3	-	10	3404	c.2816C>T	c.(2815-2817)tCc>tTc	p.S939F	SACS_ENST00000382292.3_Missense_Mutation_p.S939F|SACS_ENST00000402364.1_Missense_Mutation_p.S189F	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	939					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGTATAAGAGGAAATTCCCTG	0.363000													19	88					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142178153	142178153	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:142178153C>T	ENST00000519811.1	+	13	1874	c.1804C>T	c.(1804-1806)Cac>Tac	p.H602Y	DENND3_ENST00000424248.1_Missense_Mutation_p.H470Y|DENND3_ENST00000262585.2_Missense_Mutation_p.H522Y			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	522										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCCGAAATCCACTTTCCGCT	0.512000													38	165					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31602786	31602786	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:31602786G>A	ENST00000379416.3	-	13	1237	c.1189C>T	c.(1189-1191)Ctg>Ttg	p.L397L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	397	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GGGCTCAGCAGGGTCTTTCTG	0.527000													23	87					0	0	1	0	0
ZBTB21	49854	broad.mit.edu	37	21	43413584	43413584	+	Silent	SNP	A	A	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr21:43413584A>G	ENST00000310826.5	-	3	804	c.621T>C	c.(619-621)agT>agC	p.S207S	ZBTB21_ENST00000398505.3_Silent_p.S207S|ZBTB21_ENST00000398511.3_Silent_p.S207S|ZBTB21_ENST00000398499.1_Silent_p.S207S|ZBTB21_ENST00000465968.1_Intron	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		CTTTCGGCCAACTCTTTTCAG	0.413000													38	138					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113148337	113148337	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:113148337G>A	ENST00000401783.2	-	43	10414	c.10078C>T	c.(10078-10080)Cct>Tct	p.P3360S	SVEP1_ENST00000374469.1_Missense_Mutation_p.P3337S|SVEP1_ENST00000297826.5_Missense_Mutation_p.P1286S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3360	Sushi 33.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATCACAAAAGGAACAGGGCAT	0.403000													14	84					0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2951169	2951169	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:2951169G>A	ENST00000381130.2	+	9	1432	c.1432G>A	c.(1432-1434)Gac>Aac	p.D478N		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	478						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AACCTACCACGACCCACCACT	0.473000													31	54					0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64172194	64172194	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr18:64172194C>T	ENST00000262150.2	-	12	2466	c.2174G>A	c.(2173-2175)gGa>gAa	p.G725E		NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	725					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TGACCCTGTTCCCTCAAAAGC	0.453000													27	62					0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	304399	304399	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:304399C>T	ENST00000428720.1	-	13	2164	c.1421G>A	c.(1420-1422)tGg>tAg	p.W474*	SLC6A12_ENST00000424061.2_Nonsense_Mutation_p.W474*|SLC6A12_ENST00000397296.2_Nonsense_Mutation_p.W474*|SLC6A12_ENST00000359674.4_Nonsense_Mutation_p.W474*|SLC6A12_ENST00000536824.1_Nonsense_Mutation_p.W474*	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	474					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			ACCATACACCCAGCTTATGCA	0.567000													34	119					0	0	1	0	0
SLC5A2	6524	broad.mit.edu	37	16	31497517	31497517	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:31497517C>T	ENST00000330498.3	+	5	514	c.495C>T	c.(493-495)ttC>ttT	p.F165F		NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	165					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						GAGCTGTATTCATCCAGCAGG	0.607000													16	60					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2127662	2127662	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:2127662G>A	ENST00000219476.3	+	26	3531	c.2901G>A	c.(2899-2901)aaG>aaA	p.K967K	TSC2_ENST00000350773.4_Silent_p.K967K|TSC2_ENST00000382538.6_Intron|TSC2_ENST00000568454.1_Intron|TSC2_ENST00000401874.2_Intron|TSC2_ENST00000439673.2_Intron|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000353929.4_Intron	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	967					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				AAGAATTCAAGGAGAGCTCTG	0.607000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				29	71					0	0	1	0	0
TNIP3	79931	broad.mit.edu	37	4	122085294	122085294	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:122085294C>T	ENST00000507879.1	-	4	256	c.197G>A	c.(196-198)gGa>gAa	p.G66E	TNIP3_ENST00000057513.3_5'UTR|TNIP3_ENST00000454328.1_5'UTR|TNIP3_ENST00000509841.1_Missense_Mutation_p.G73E	NM_001128843.2	NP_001122315.2	Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	77										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						AGCTGTTTTTCCTGGAGTCTT	0.388000													15	64					0	0	1	0	0
KCNK5	8645	broad.mit.edu	37	6	39159151	39159151	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:39159151G>A	ENST00000359534.3	-	5	1353	c.1015C>T	c.(1015-1017)Cct>Tct	p.P339S		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	339					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						ACCAGGGAAGGGGGCAGTGCT	0.652000													12	64					0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51411750	51411750	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:51411750C>T	ENST00000319760.6	-	1	698	c.646G>A	c.(646-648)Gga>Aga	p.G216R		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AGGATGACTCCATAGGAGATT	0.448000													23	79					0	0	1	0	0
ZBTB45	84878	broad.mit.edu	37	19	59028743	59028743	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:59028743G>A	ENST00000594051.1	-	2	778	c.298C>T	c.(298-300)Ctg>Ttg	p.L100L	ZBTB45_ENST00000600990.1_Silent_p.L100L|ZBTB45_ENST00000354590.3_Silent_p.L100L			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		AGCACCTGCAGGGCTTCACCC	0.642000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	74					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6956647	6956647	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr18:6956647G>A	ENST00000389658.3	-	56	8175	c.8082C>T	c.(8080-8082)ccC>ccT	p.P2694P	RP11-781P6.1_ENST00000584722.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2694					axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAAAGCCCGGGGCTCTGGCA	0.567000													14	58					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39535042	39535042	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:39535042C>T	ENST00000265707.5	+	15	1663	c.1618C>T	c.(1618-1620)Cct>Tct	p.P540S	ADAM18_ENST00000379866.1_Missense_Mutation_p.P516S|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	540	Cys-rich.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ACAACCATTACCTTGTGAACG	0.308000													22	25					0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011435	105011435	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:105011435C>T	ENST00000372582.1	+	11	2598	c.1842C>T	c.(1840-1842)atC>atT	p.I614I	IL1RAPL2_ENST00000538500.1_Silent_p.I219I|IL1RAPL2_ENST00000344799.4_Silent_p.I614I	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	614					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CAATGCAAATCAGGCACTGTT	0.488000													24	79					0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160240298	160240298	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:160240298C>T	ENST00000275275.5	+	18	1584	c.1413C>T	c.(1411-1413)atC>atT	p.I471I	PNLDC1_ENST00000392167.3_Silent_p.I482I	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	471						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CGCGGAACATCCTGAAGGAGT	0.602000													12	47					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49418438	49418438	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:49418438G>A	ENST00000301067.7	-	50	15974	c.15975C>T	c.(15973-15975)ccC>ccT	p.P5325P		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GCTCCATAAGGGGGTGGCGCC	0.532000													10	17					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24365022	24365022	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:24365022C>T	ENST00000175238.6	+	21	2321	c.2238C>T	c.(2236-2238)atC>atT	p.I746I	ADAM7_ENST00000520720.1_Intron|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000380789.1_Silent_p.I768I	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	746					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.I746I(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CAAGAGGAATCGCAGATCCCA	0.388000													17	106					0	0	1	0	0
CAMKK2	10645	broad.mit.edu	37	12	121712076	121712076	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:121712076G>A	ENST00000324774.5	-	2	1082	c.254C>T	c.(253-255)aCc>aTc	p.T85I	CAMKK2_ENST00000337174.3_Missense_Mutation_p.T85I|CAMKK2_ENST00000538733.1_Missense_Mutation_p.T85I|CAMKK2_ENST00000392473.2_Missense_Mutation_p.T85I|CAMKK2_ENST00000404169.3_Missense_Mutation_p.T85I|CAMKK2_ENST00000535524.1_5'UTR|CAMKK2_ENST00000412367.2_Missense_Mutation_p.T85I|CAMKK2_ENST00000402834.4_Missense_Mutation_p.T85I|CAMKK2_ENST00000446440.2_Missense_Mutation_p.T85I|CAMKK2_ENST00000347034.2_Missense_Mutation_p.T85I|CAMKK2_ENST00000392474.2_Missense_Mutation_p.T85I	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	85			T -> S (in dbSNP:rs3817190).		calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGACCCGGAGGTGTCAAGGGG	0.692000													10	23					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27506677	27506677	+	Silent	SNP	C	C	T	rs148107220		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:27506677C>T	ENST00000356183.4	-	15	2502	c.2487G>A	c.(2485-2487)cgG>cgA	p.R829R	GTF3C1_ENST00000561623.1_Silent_p.R829R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	829						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TTATCGTTCTCCGTTCACTGA	0.597000													8	36					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	93943986	93943986	+	Translation_Start_Site	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:93943986G>A	ENST00000256339.4	+	0	655				UNC79_ENST00000393151.2_Silent_p.T177T|UNC79_ENST00000555664.1_Silent_p.T177T|UNC79_ENST00000553484.1_Silent_p.T177T	NM_020818.3	NP_065869.3	Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)							integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGCCCTACACGATGATATCAA	0.358000													14	74					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51839578	51839578	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:51839578G>A	ENST00000251076.5	-	7	882	c.595C>T	c.(595-597)Cct>Tct	p.P199S	DMXL2_ENST00000560421.1_5'UTR|DMXL2_ENST00000543779.2_Missense_Mutation_p.P199S|DMXL2_ENST00000449909.3_Missense_Mutation_p.P199S	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	199						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CCAGTCATAGGATACCACACT	0.323000													9	52					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10443321	10443321	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:10443321C>T	ENST00000245503.5	-	12	1455	c.1071G>A	c.(1069-1071)ggG>ggA	p.G357G	MYH2_ENST00000397183.2_Silent_p.G357G|MYH2_ENST00000532183.1_Silent_p.G357G|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	357	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCATCACAGCCCCCGTGAGCT	0.423000													53	174					0	0	1	0	0
OR10A5	144124	broad.mit.edu	37	11	6867026	6867026	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:6867026T>C	ENST00000299454.4	+	1	144	c.113T>C	c.(112-114)gTt>gCt	p.V38A	OR10A5_ENST00000379831.2_Missense_Mutation_p.V42A			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATCTATTTGGTTACTCTGAAG	0.423000													80	226					0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8168223	8168223	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:8168223C>T	ENST00000314666.6	+	18	2193	c.2060C>T	c.(2059-2061)tCt>tTt	p.S687F	PFAS_ENST00000545834.1_Missense_Mutation_p.S263F	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	687					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GTGGACCGCTCTGTGGGAGGC	0.642000													3	12					0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70079978	70079978	+	Missense_Mutation	SNP	G	G	A	rs142415589	byFrequency	TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:70079978G>A	ENST00000446444.1	-	1	471	c.463C>T	c.(463-465)Ccc>Tcc	p.P155S	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	155					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TCACCACAGGGAAAAACAGCA	0.398000													25	106					0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33501375	33501375	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:33501375G>A	ENST00000268876.5	+	14	2048	c.1951G>A	c.(1951-1953)Gag>Aag	p.E651K	UNC45B_ENST00000591048.1_Missense_Mutation_p.E570K|UNC45B_ENST00000433649.1_Missense_Mutation_p.E649K|UNC45B_ENST00000394570.2_Missense_Mutation_p.E649K|UNC45B_ENST00000378449.1_Missense_Mutation_p.E570K	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	651					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CCAGACCAAGGAGCTGCTGGC	0.602000													17	51					0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5294605	5294605	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr20:5294605G>A	ENST00000546004.1	-	2	657	c.411C>T	c.(409-411)gtC>gtT	p.V137V	PROKR2_ENST00000217270.3_Silent_p.V137V			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	137						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CGTAGAGGGAGACGGTGCGCA	0.612000										HNSCC(71;0.22)			10	35					0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10280489	10280489	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:10280489C>T	ENST00000256458.4	+	12	1621	c.1531C>T	c.(1531-1533)Cct>Tct	p.P511S		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	511					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GACGTTGCTCCCTTGGAGTGG	0.562000													33	115					0	0	1	0	0
NDRG3	57446	broad.mit.edu	37	20	35299773	35299773	+	Missense_Mutation	SNP	C	C	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr20:35299773C>G	ENST00000373803.2	-	9	615	c.559G>C	c.(559-561)Gac>Cac	p.D187H	NDRG3_ENST00000540765.1_Missense_Mutation_p.D83H|NDRG3_ENST00000373773.3_Missense_Mutation_p.D92H|NDRG3_ENST00000359675.2_Missense_Mutation_p.D175H|NDRG3_ENST00000349004.1_Missense_Mutation_p.D187H			Q9UGV2	NDRG3_HUMAN	NDRG family member 3	187					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				AAAATAATGTCCACAACATTG	0.378000													17	63					0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21713332	21713332	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:21713332C>T	ENST00000261195.2	-	8	1411	c.1157G>A	c.(1156-1158)cGa>cAa	p.R386Q		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	386					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	p.R386Q(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CAGCTGTTTTCGCACTGCTTG	0.383000													33	106					0	0	1	0	0
BCAP31	10134	broad.mit.edu	37	X	152981046	152981046	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:152981046G>A	ENST00000458587.2	-	4	922	c.493C>T	c.(493-495)Cgt>Tgt	p.R165C	BCAP31_ENST00000477175.1_5'UTR|BCAP31_ENST00000441714.1_Missense_Mutation_p.R98C|BCAP31_ENST00000345046.6_Missense_Mutation_p.R98C	NM_001139441.1|NM_001139457.2	NP_001132913.1|NP_001132929.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	98		Cleavage; by caspase-8 (Potential).			cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport	cytosol|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to plasma membrane	receptor binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCTGGGCACGGAAAAGCTTC	0.547000													43	72					0	0	1	0	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31726370	31726370	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:31726370C>T	ENST00000493662.2	+	14	1296	c.1240C>T	c.(1240-1242)Ccc>Tcc	p.P414S	MSH5_ENST00000375755.3_Missense_Mutation_p.P397S|MSH5_ENST00000534153.4_Missense_Mutation_p.P414S|MSH5_ENST00000375703.3_Missense_Mutation_p.P397S|MSH5_ENST00000395853.1_Missense_Mutation_p.P71S|MSH5_ENST00000375750.3_Missense_Mutation_p.P397S|MSH5_ENST00000375742.3_Missense_Mutation_p.P414S|MSH5_ENST00000431848.2_Missense_Mutation_p.P96S|MSH5_ENST00000375740.3_Missense_Mutation_p.P414S																							CACAGTCCTCCCCAACATAGA	0.532000													10	50					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92534542	92534542	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:92534542C>T	ENST00000298047.6	+	9	8380	c.8363C>T	c.(8362-8364)cCc>cTc	p.P2788L	FAT3_ENST00000409404.2_Missense_Mutation_p.P2788L|FAT3_ENST00000525166.1_Missense_Mutation_p.P2638L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2788	Cadherin 25.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCCACTATACCCCTGGACAAA	0.418000										TCGA Ovarian(4;0.039)			10	43					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2813131	2813131	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:2813131C>T	ENST00000602557.1	-	65	10532	c.9977G>A	c.(9976-9978)gGa>gAa	p.G3326E	CSMD1_ENST00000537824.1_Missense_Mutation_p.G3325E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G3149E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G3148E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G3149E|CSMD1_ENST00000520002.1_Missense_Mutation_p.G3326E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3326	Sushi 28.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGGCGACTTTCCTGTCCATTT	0.488000													16	57					0	0	1	0	0
LGALS9B	284194	broad.mit.edu	37	17	20354887	20354887	+	Silent	SNP	A	A	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:20354887A>C	ENST00000423676.3	-	10	894	c.831T>G	c.(829-831)gcT>gcG	p.A277A	LGALS9B_ENST00000324290.5_Silent_p.A276A			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	277	Galectin 2.						sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						TACGGACCACAGCATTCTCAT	0.572000													13	49					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39879565	39879565	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:39879565G>A	ENST00000260356.5	+	8	1303	c.1138G>A	c.(1138-1140)Gat>Aat	p.D380N		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	380	TSP type-1 1.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CTCTGCGGACGATGGCTGGTC	0.572000													16	35					0	0	1	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162658	33162658	+	RNA	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:33162658G>A	ENST00000510327.1	-	0	346																											TGGGCCGCAAGAAGGGAGCCA	0.458000													9	18					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71827915	71827915	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:71827915G>A	ENST00000258104.3	+	34	4063	c.3786G>A	c.(3784-3786)agG>agA	p.R1262R	DYSF_ENST00000394120.2_Silent_p.R1263R|DYSF_ENST00000409366.1_Silent_p.R1263R|DYSF_ENST00000409762.1_Silent_p.R1279R|DYSF_ENST00000409651.1_Silent_p.R1294R|DYSF_ENST00000410041.1_Silent_p.R1280R|DYSF_ENST00000413539.2_Silent_p.R1293R|DYSF_ENST00000409582.3_Silent_p.R1279R|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409744.1_Silent_p.R1249R|DYSF_ENST00000410020.3_Silent_p.R1280R|DYSF_ENST00000429174.2_Silent_p.R1262R	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1262						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CACTGACGAGGGGCAGCCAGC	0.607000													34	107					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57415683	57415683	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr20:57415683C>T	ENST00000313949.7	+	1	911	c.522C>T	c.(520-522)tcC>tcT	p.S174S	GNAS_ENST00000371075.3_Silent_p.S174S|GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371098.2_Silent_p.S174S|GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000424094.2_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCGACGCCTCCCCAAGTCGCG	0.672000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			6	21					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11101966	11101966	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:11101966C>T	ENST00000358026.2	+	8	1670	c.1386C>T	c.(1384-1386)atC>atT	p.I462I	SMARCA4_ENST00000413806.3_Silent_p.I462I|SMARCA4_ENST00000344626.4_Silent_p.I462I|SMARCA4_ENST00000590574.1_Silent_p.I462I|SMARCA4_ENST00000589677.1_Silent_p.I462I|SMARCA4_ENST00000429416.3_Silent_p.I462I|SMARCA4_ENST00000444061.3_Silent_p.I462I|SMARCA4_ENST00000450717.3_Silent_p.I462I|SMARCA4_ENST00000541122.2_Silent_p.I462I	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	462	HSA.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AGCAGAAGATCGAGCAGGAGC	0.667000			"""F, N, Mis"""		NSCLC								3	13					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114117542	114117542	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:114117542C>T	ENST00000357077.4	+	3	258	c.205C>T	c.(205-207)Cat>Tat	p.H69Y	ANK2_ENST00000264366.6_Missense_Mutation_p.H69Y|ANK2_ENST00000394537.3_Missense_Mutation_p.H69Y|ANK2_ENST00000506722.1_Missense_Mutation_p.H48Y	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	69					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAACGCTCTCCATCTGGCTGC	0.483000													8	30					0	0	1	0	0
SBDS	51119	broad.mit.edu	37	7	66458322	66458322	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:66458322A>T	ENST00000246868.2	-	3	524	c.341T>A	c.(340-342)aTt>aAt	p.I114N		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	114				I -> F (in Ref. 2; AAD34092).	bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						GTCTGCCACAATAGTTGCAAT	0.398000			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome				43	145					0	0	1	0	0
YIPF7	285525	broad.mit.edu	37	4	44624460	44624460	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:44624460C>T	ENST00000332990.5	-	6	830	c.814G>A	c.(814-816)Gga>Aga	p.G272R		NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	272						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						GCAAAAAGTCCATAAAGTATG	0.403000													5	40					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79366792	79366792	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:79366792C>T	ENST00000264895.6	+	42	6222	c.5782C>T	c.(5782-5784)Cat>Tat	p.H1928Y	FRAS1_ENST00000325942.6_Missense_Mutation_p.H1928Y	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1927					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGAGCCAACCCATGATATTTT	0.388000													41	188					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10274089	10274089	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:10274089C>T	ENST00000396573.2	-	3	489	c.180G>A	c.(178-180)gcG>gcA	p.A60A	GRIN2A_ENST00000396575.2_Silent_p.A60A|GRIN2A_ENST00000562109.1_Silent_p.A60A|GRIN2A_ENST00000330684.3_Silent_p.A60A|GRIN2A_ENST00000404927.2_Silent_p.A60A	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	60					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCAGCCCCGCCGCCTGCTCGG	0.652000													22	74					0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231617	7231617	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr18:7231617G>A	ENST00000383467.2	+	1	495	c.481G>A	c.(481-483)Gac>Aac	p.D161N		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	161								p.D161N(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ATGCTTCGCCGACCTCTCTAG	0.572000													14	77					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117303079	117303079	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:117303079C>T	ENST00000321322.6	-	30	5349	c.5348G>A	c.(5347-5349)cGg>cAg	p.R1783Q	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R1513Q	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1723					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGTTCCTGGCCGGATGTCAGA	0.552000													8	39					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141796173	141796173	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:141796173C>T	ENST00000475668.2	+	65	7704	c.7650C>T	c.(7648-7650)ttC>ttT	p.F2550F	MGAM_ENST00000549489.2_Silent_p.F1654F			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1654					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACAGTCAGTTCCTGCTGGGCC	0.592000													11	58					0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203708954	203708954	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:203708954C>T	ENST00000357681.5	+	21	4713	c.3590C>T	c.(3589-3591)tCt>tTt	p.S1197F	ATP2B4_ENST00000367218.3_3'UTR|ATP2B4_ENST00000367219.3_3'UTR|ATP2B4_ENST00000341360.2_3'UTR|ATP2B4_ENST00000391954.2_3'UTR	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1233					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TCGGACAGCTCTCTACAGAGC	0.458000													37	26					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11134267	11134267	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:11134267G>A	ENST00000358026.2	+	20	3217	c.2933G>A	c.(2932-2934)cGa>cAa	p.R978Q	SMARCA4_ENST00000413806.3_Missense_Mutation_p.R978Q|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R978Q|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R978Q|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R978Q|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R978Q|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R978Q|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R978Q|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R978Q	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	978					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TTCTTGCTCCGACGACTCAAG	0.577000			"""F, N, Mis"""		NSCLC								13	20					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91760643	91760643	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:91760643C>T	ENST00000389857.6	-	23	4072	c.3986G>A	c.(3985-3987)gGg>gAg	p.G1329E		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1329					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTCCAAGTTCCCCTTGAGACG	0.537000													15	47					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133935613	133935613	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:133935613G>A	ENST00000220616.4	+	22	4599	c.4559G>A	c.(4558-4560)gGc>gAc	p.G1520D	TG_ENST00000542445.1_5'UTR|TG_ENST00000377869.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1520	Thyroglobulin type-1 11.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AACGAAGCAGGCCTGCAATGT	0.577000													9	51					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39581320	39581320	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:39581320C>T	ENST00000265707.5	+	19	2116	c.2071C>T	c.(2071-2073)Ctg>Ttg	p.L691L	ADAM18_ENST00000379866.1_Silent_p.L667L|ADAM18_ENST00000541111.1_Silent_p.L105L|ADAM18_ENST00000523755.1_3'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	691					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CTGGTTTATTCTGAGTTTCTG	0.328000													22	72					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14763957	14763957	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr18:14763957G>A	ENST00000358984.4	+	7	1273	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.E365K|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	365										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CACATGGGAGGAAAAAGAAAC	0.368000													3	19					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361387	70361387	+	Missense_Mutation	SNP	C	C	T	rs140509960		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:70361387C>T	ENST00000305107.6	-	1	239	c.193G>A	c.(193-195)Gat>Aat	p.D65N	UGT2B4_ENST00000512583.1_Missense_Mutation_p.D65N|UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	65					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.D65N(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CTGTTGGGATCGAAAGAAATG	0.398000													40	107					0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15079115	15079115	+	Splice_Site	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:15079115C>T	ENST00000598504.1	-	6	1907	c.548_splice	c.e6+1	p.R183_splice	SLC1A6_ENST00000430939.2_Intron|SLC1A6_ENST00000544886.2_Splice_Site_p.R183_splice|SLC1A6_ENST00000600144.1_Splice_Site_p.R183_splice|SLC1A6_ENST00000221742.3_Splice_Site_p.R183_splice	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	183					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	gttggcaCACCTGATCAGGTC	0.507000													3	11					0	0	1	0	0
STATH	6779	broad.mit.edu	37	4	70864163	70864163	+	Silent	SNP	C	C	T	rs144461948		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:70864163C>T	ENST00000246895.4	+	2	120	c.9C>T	c.(7-9)ttC>ttT	p.F3F	STATH_ENST00000381060.2_Silent_p.F3F	NM_003154.2	NP_003145.1	P02808	STAT_HUMAN	statherin	3					biomineral tissue development|negative regulation of bone mineralization|ossification|saliva secretion	extracellular region	extracellular matrix constituent, lubricant activity|hydroxyapatite binding|protein binding|structural constituent of tooth enamel	p.F3F(1)		lung(2)|skin(1)	3						CTATGAAGTTCCTTGTCTTTG	0.378000													23	60					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54806758	54806758	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:54806758C>T	ENST00000306858.7	+	5	3105	c.2989C>T	c.(2989-2991)Cga>Tga	p.R997*		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	997										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GAACAAGTTTCGAGGATTTAT	0.333000													20	47					0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219301314	219301314	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:219301314G>A	ENST00000248444.5	+	16	2024	c.1936G>A	c.(1936-1938)Gag>Aag	p.E646K	VIL1_ENST00000392114.2_Missense_Mutation_p.E335K	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	646	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGACTTGGAAGAGGATGATGT	0.557000													40	144					0	0	1	0	0
ZFP91	80829	broad.mit.edu	37	11	58347022	58347022	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:58347022G>A	ENST00000316059.6	+	1	439	c.268G>A	c.(268-270)Gac>Aac	p.D90N	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.D90N	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	90					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CAGGCCTCCCGACGTCCCCGG	0.731000													3	6					0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20490539	20490539	+	RNA	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:20490539C>T	ENST00000555186.1	+	0	519					NR_038836.1																						GGTAGTGGATCCAAAGGCATG	0.443000													34	420					0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4919558	4919558	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:4919558C>T	ENST00000433855.1	+	1	1217	c.351C>T	c.(349-351)ttC>ttT	p.F117F	KCNA6_ENST00000280684.3_Silent_p.F117F	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	117						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TGGACATTTTCCTGGAGGAGA	0.672000										HNSCC(72;0.22)			25	68					0	0	1	0	0
ZNF682	91120	broad.mit.edu	37	19	20117516	20117516	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:20117516G>A	ENST00000397165.2	-	4	955	c.795C>T	c.(793-795)gcC>gcT	p.A265A	ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000358523.5_Silent_p.A233A|ZNF682_ENST00000597972.1_Silent_p.A271A|ZNF682_ENST00000595736.1_Silent_p.A189A|ZNF682_ENST00000397162.1_Silent_p.A233A	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						ACCAGTGAAAGGCTTTTCCAC	0.408000													22	82					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39788336	39788336	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:39788336C>T	ENST00000564288.1	+	32	4863	c.4086C>T	c.(4084-4086)tcC>tcT	p.S1362S	MACF1_ENST00000567887.1_Silent_p.S1399S|MACF1_ENST00000539005.1_Silent_p.S1367S|MACF1_ENST00000317713.7_Silent_p.S1367S|MACF1_ENST00000545844.1_Silent_p.S1367S|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000372915.3_Silent_p.S1367S|MACF1_ENST00000361689.2_Silent_p.S1367S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1367					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGCAGAAATCCCCTGGCAAGC	0.473000													31	106					0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38308998	38308998	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr21:38308998G>A	ENST00000399120.1	-	5	1977	c.747C>T	c.(745-747)tcC>tcT	p.S249S	HLCS_ENST00000336648.3_Silent_p.S249S	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	249					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CAAAGGTGAAGGATGAAGACA	0.522000													12	41					0	0	1	0	0
PCSK4	54760	broad.mit.edu	37	19	1481873	1481873	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:1481873G>A	ENST00000300954.5	-	15	2214	c.2153C>T	c.(2152-2154)aCc>aTc	p.T718I		NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	718					proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTCCGAGGGTCACGGCCAG	0.716000													5	16					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178417617	178417617	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:178417617G>A	ENST00000231188.5	-	4	1166	c.988C>T	c.(988-990)Ctg>Ttg	p.L330L	GRM6_ENST00000517717.1_Silent_p.L330L	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	330					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CTTTTGGGCAGGATGGTGATG	0.642000													6	20					0	0	1	0	0
IFRD2	7866	broad.mit.edu	37	3	50329957	50329957	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:50329957G>A	ENST00000336089.4	-	3	300	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L	IFRD2_ENST00000436390.1_5'UTR|IFRD2_ENST00000417626.2_5'UTR			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	106							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGAGCGCGCAGGCGACGGCGG	0.637000													10	36					0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165832235	165832235	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:165832235G>A	ENST00000366882.1	-	12	1010	c.856C>T	c.(856-858)Cgt>Tgt	p.R286C	PDE10A_ENST00000539869.2_Missense_Mutation_p.R296C|PDE10A_ENST00000354448.4_Missense_Mutation_p.R286C			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	286	Allosteric effector binding.|GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	AGCGCACAACGATCGGCATTC	0.373000													16	39					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66938086	66938086	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:66938086G>A	ENST00000269080.2	-	2	227	c.90C>T	c.(88-90)tcC>tcT	p.S30S	ABCA8_ENST00000586539.1_Silent_p.S30S|ABCA8_ENST00000430352.2_Silent_p.S30S	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	30						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ATACCATTAAGGACTCTCTTT	0.378000													16	46					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5485193	5485193	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:5485193C>T	ENST00000345221.3	-	3	1192	c.638G>A	c.(637-639)gGa>gAa	p.G213E	NLRP1_ENST00000269280.4_Missense_Mutation_p.G213E|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Missense_Mutation_p.G213E|NLRP1_ENST00000572272.1_Missense_Mutation_p.G213E|NLRP1_ENST00000262467.5_Missense_Mutation_p.G213E|NLRP1_ENST00000577119.1_Missense_Mutation_p.G213E	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	213					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GTAGTAAATTCCTGACGTTTC	0.602000													31	97					0	0	1	0	0
LOC101929950	101929950	broad.mit.edu	37	17	36358958	36358958	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:36358958G>A	ENST00000312412.4	-	6	732	c.733C>T	c.(733-735)Ctg>Ttg	p.L245L	RP11-1407O15.2_ENST00000544906.1_Silent_p.L90L																kidney(1)|lung(3)	4						AATGCCACCAGATATGTAGAT	0.398000													34	365					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140627082	140627082	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:140627082G>A	ENST00000231173.3	+	1	1936	c.1936G>A	c.(1936-1938)Gac>Aac	p.D646N		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		646	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGGTCAAGGACAATGGCGA	0.706000													18	80					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55972865	55972865	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:55972865C>T	ENST00000263923.4	-	11	1820	c.1525G>A	c.(1525-1527)Gga>Aga	p.G509R		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	509	Ig-like C2-type 5.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TTGTTTTTTCCTTCAATTAGA	0.323000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			10	31					0	0	1	0	0
OR1A2	26189	broad.mit.edu	37	17	3100893	3100893	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:3100893C>T	ENST00000381951.1	+	1	81	c.81C>T	c.(79-81)ttC>ttT	p.F27F		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						ATAATGTCTTCTTTGTGATTT	0.403000													40	118					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155200375	155200375	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:155200375T>C	ENST00000460012.1	-	23	3707	c.3350A>G	c.(3349-3351)gAc>gGc	p.D1117G	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.D1117G|PLCH1_ENST00000340059.7_Missense_Mutation_p.D1155G|PLCH1_ENST00000334686.6_Missense_Mutation_p.D1117G|PLCH1_ENST00000494598.1_Intron			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1155					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CATGGAGACGTCTGACAAAGA	0.423000													25	65					0	0	1	0	0
CEACAM18	729767	broad.mit.edu	37	19	51984797	51984797	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:51984797C>T	ENST00000396477.4	+	3	572	c.551C>T	c.(550-552)tCc>tTc	p.S184F	CEACAM18_ENST00000451626.1_Missense_Mutation_p.S245F	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	245						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ATGACAATTTCCCCAGACGGC	0.483000													8	59					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153594930	153594930	+	Splice_Site	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:153594930C>T	ENST00000422373.1	-	7	1313	c.1065_splice	c.e7+1	p.K355_splice	FLNA_ENST00000344736.4_Splice_Site_p.K355_splice|FLNA_ENST00000369850.3_Splice_Site_p.K355_splice|FLNA_ENST00000360319.4_Splice_Site_p.K355_splice	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	355					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGGGCTCACCTTATGAGTCC	0.627000													20	45					0	0	1	0	0
GOT1	2805	broad.mit.edu	37	10	101162412	101162412	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:101162412C>T	ENST00000370508.5	-	8	1054	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	GOT1_ENST00000543866.1_Missense_Mutation_p.E322K	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	343					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TTGAGGGCTTCTAGTCGTGCC	0.517000													23	54					0	0	1	0	0
DFNB31	25861	broad.mit.edu	37	9	117185767	117185767	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:117185767G>A	ENST00000362057.3	-	7	1621	c.1453C>T	c.(1453-1455)Ccg>Tcg	p.P485S	DFNB31_ENST00000374059.3_Missense_Mutation_p.P134S|DFNB31_ENST00000265134.6_Missense_Mutation_p.P102S	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	485					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGGTCTTGCGGGGAAATGGTG	0.632000													17	73					0	0	1	0	0
B3GNT3	10331	broad.mit.edu	37	19	17922508	17922508	+	Silent	SNP	C	C	T	rs141805771		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:17922508C>T	ENST00000318683.6	+	3	843	c.696C>T	c.(694-696)caC>caT	p.H232H	B3GNT3_ENST00000595387.1_Silent_p.H232H	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	232					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CTGGCCGCCACCTCTTCGTGG	0.577000													26	62					0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77895176	77895176	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr18:77895176C>T	ENST00000262198.4	+	4	2335	c.1880C>T	c.(1879-1881)cCc>cTc	p.P627L		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	627					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CTGCCGGTTCCCCCTGGAGGC	0.617000													11	45					0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108072559	108072559	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:108072559G>A	ENST00000357759.5	+	4	764	c.350G>A	c.(349-351)gGa>gAa	p.G117E	HHLA2_ENST00000467761.1_Missense_Mutation_p.G117E|HHLA2_ENST00000489514.2_Missense_Mutation_p.G117E|HHLA2_ENST00000467562.1_Missense_Mutation_p.G53E|HHLA2_ENST00000491820.1_Missense_Mutation_p.G117E	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	117	Ig-like V-type 1.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						CTGGACGAAGGAATTTACACC	0.403000													13	40					0	0	1	0	0
IRGC	56269	broad.mit.edu	37	19	44223535	44223535	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:44223535C>T	ENST00000244314.5	+	2	1024	c.825C>T	c.(823-825)ggC>ggT	p.G275G		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	275						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				TGGTGTTGGGCGTCATCCAGG	0.637000													19	52					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433330	55433330	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:55433330G>A	ENST00000314259.3	+	1	717	c.688G>A	c.(688-690)Ggg>Agg	p.G230R		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CAGCTCTAAAGGGCGGCACAA	0.493000													22	103					0	0	1	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140774693	140774693	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:140774693C>T	ENST00000398604.2	+	1	2313	c.2313C>T	c.(2311-2313)ccC>ccT	p.P771P	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATCTTTCCCCAGCCCAACT	0.483000													18	86					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	33990587	33990587	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:33990587C>T	ENST00000373381.4	-	66	10467	c.10291G>A	c.(10291-10293)Ggg>Agg	p.G3431R		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3287						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCTTCTTCCCCTGGTATTCA	0.512000													79	108					0	0	1	0	0
IL13RA2	3598	broad.mit.edu	37	X	114251824	114251824	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:114251824G>A	ENST00000371936.1	-	3	258	c.9C>T	c.(7-9)ttC>ttT	p.F3F	IL13RA2_ENST00000468224.1_5'UTR|IL13RA2_ENST00000243213.1_Silent_p.F3F			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	3						extracellular space|integral to membrane|soluble fraction	cytokine receptor activity	p.F3F(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						CCAAGCAAACGAAAGCCATTT	0.328000													18	63					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1083140	1083140	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:1083140C>T	ENST00000441003.2	+	16	2067	c.2040C>T	c.(2038-2040)tcC>tcT	p.S680S	MUC2_ENST00000359061.5_Silent_p.S680S	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	680						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCTGCCGCTCCCTCTCCGAGG	0.657000													6	17					0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44685012	44685012	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:44685012C>T	ENST00000222673.5	+	3	351	c.309C>T	c.(307-309)tcC>tcT	p.S103S	OGDH_ENST00000449767.1_Silent_p.S103S|OGDH_ENST00000447398.1_Silent_p.S103S|OGDH_ENST00000444676.1_Silent_p.S103S|OGDH_ENST00000443864.2_Silent_p.S103S|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Silent_p.S43S	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	103					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GCCGAGGCTCCCTGGCTGCTG	0.592000													29	104					0	0	1	0	0
CARM1	10498	broad.mit.edu	37	19	11022910	11022910	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:11022910C>T	ENST00000327064.4	+	5	799	c.609C>T	c.(607-609)gcC>gcT	p.A203A	CARM1_ENST00000344150.4_Silent_p.A203A	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	203					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TTTTTGCCGCCCAAGCTGGAG	0.627000													64	227					0	0	1	0	0
RBPMS	11030	broad.mit.edu	37	8	30407079	30407079	+	Silent	SNP	C	C	T	rs147114264	byFrequency	TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:30407079C>T	ENST00000287771.5	+	7	1157	c.591C>T	c.(589-591)gcC>gcT	p.A197A	RBPMS_ENST00000538486.1_Intron|RBPMS_ENST00000320203.4_Intron|RBPMS_ENST00000397323.4_Intron	NM_001008711.1	NP_001008711.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing	0					positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		CTGATAGTGCCAGCCTGGCCT	0.572000													23	59					0	0	1	0	0
INMT	11185	broad.mit.edu	37	7	30795321	30795321	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:30795321C>T	ENST00000013222.5	+	3	662	c.646C>T	c.(646-648)Ctg>Ttg	p.L216L	INMT-FAM188B_ENST00000458257.1_Intron|INMT_ENST00000409539.1_Silent_p.L215L|INMT_ENST00000484180.1_3'UTR	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	216						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						CTGCGTGGCCCTGGAGAAAGA	0.587000													24	63					0	0	1	0	0
GUCA1C	9626	broad.mit.edu	37	3	108627001	108627001	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:108627001C>T	ENST00000393963.3	-	4	537	c.538G>A	c.(538-540)Gga>Aga	p.G180R	GUCA1C_ENST00000261047.3_Silent_p.L166L			O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	0					signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						AAACAATCTCCAGGAGATCCT	0.408000													15	58					0	0	1	0	0
C9orf152	401546	broad.mit.edu	37	9	112963442	112963442	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:112963442C>T	ENST00000400613.4	-	2	1115	c.506G>A	c.(505-507)gGa>gAa	p.G169E	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	169										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GATTCCGGTTCCTTGCTGAGT	0.493000													58	162					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6153610	6153610	+	Missense_Mutation	SNP	C	C	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:6153610C>A	ENST00000261405.5	-	18	2543	c.2289G>T	c.(2287-2289)agG>agT	p.R763S		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	763					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGGATAGGCTCCTTTTGCCTC	0.532000													7	27					1.06961e-07	1.08857e-07	1	1	0
RERGL	79785	broad.mit.edu	37	12	18234310	18234310	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:18234310T>A	ENST00000229002.2	-	6	639	c.433A>T	c.(433-435)Aac>Tac	p.N145Y	RERGL_ENST00000536890.1_3'UTR|RERGL_ENST00000538724.1_Missense_Mutation_p.N144Y|RERGL_ENST00000541632.1_5'UTR	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	145	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TGGCATCGGTTTTCCAGTGCC	0.458000													18	71					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21065751	21065751	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:21065751G>A	ENST00000261383.3	-	28	4028	c.4029C>T	c.(4027-4029)atC>atT	p.I1343I	DNAH3_ENST00000415178.1_Silent_p.I1343I	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1343	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CGTGGACATCGATGACCGTGA	0.532000													14	33					0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161569295	161569295	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:161569295G>A	ENST00000356592.3	+	7	1355	c.895G>A	c.(895-897)Gat>Aat	p.D299N	GABRG2_ENST00000393933.4_Missense_Mutation_p.D204N|GABRG2_ENST00000361925.4_Missense_Mutation_p.D299N|GABRG2_ENST00000414552.2_Missense_Mutation_p.D339N	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	299					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GATCAATAAGGATGCTGTTCC	0.403000													39	97					0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36756934	36756934	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:36756934G>A	ENST00000416516.2	-	5	2322	c.1832C>T	c.(1831-1833)cCc>cTc	p.P611L		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	611	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TTCGATCCAGGGGTGCTGAAG	0.552000													17	56					0	0	1	0	0
MALT1	10892	broad.mit.edu	37	18	56390484	56390484	+	Splice_Site	SNP	G	G	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr18:56390484G>T	ENST00000348428.3	+	10	1480		c.e10+1		MALT1_ENST00000345724.3_Splice_Site|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1						activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						GGAGTATATGGTAAGATATTT	0.308000			T	BIRC3	MALT								7	39					0.00307968	0.00308736	1	1	0
POLR2A	5430	broad.mit.edu	37	17	7401454	7401454	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:7401454C>T	ENST00000322644.6	+	8	1659	c.1260C>T	c.(1258-1260)atC>atT	p.I420I	POLR2A_ENST00000572844.1_Silent_p.I420I	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	420					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				AGTACATCATCCGAGACAATG	0.532000													21	63					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141758083	141758083	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:141758083G>A	ENST00000475668.2	+	31	3828	c.3774G>A	c.(3772-3774)gaG>gaA	p.E1258E	MGAM_ENST00000549489.2_Silent_p.E1258E			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1258	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATGACTCTGAGATCGCCAGCT	0.488000													60	208					0	0	1	0	0
SLC47A2	146802	broad.mit.edu	37	17	19611819	19611819	+	Splice_Site	SNP	C	C	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:19611819C>A	ENST00000325411.5	-	7	583	c.531_splice	c.e7-1	p.G178_splice	SLC47A2_ENST00000463318.1_Intron|SLC47A2_ENST00000350657.5_Intron	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	178						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					CTTCAGCCATCCCTGTTGAGG	0.567000													43	175					3.76604e-16	3.85719e-16	1	1	0
FAM188B	84182	broad.mit.edu	37	7	30831094	30831094	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:30831094C>T	ENST00000265299.6	+	5	1054	c.977C>T	c.(976-978)cCc>cTc	p.P326L	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	326										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GACAGGATGCCCTTGAAGCTC	0.637000													13	31					0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53002027	53002027	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:53002027C>T	ENST00000305748.3	-	9	1610	c.1576G>A	c.(1576-1578)Gga>Aga	p.G526R	RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	526	Tail.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		AAGGTCTTTCCCTGGGAGTCC	0.567000													42	132					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11500355	11500355	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:11500355G>A	ENST00000423059.3	-	11	2790	c.2539C>T	c.(2539-2541)Cct>Tct	p.P847S	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	847						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACGCTCCAAGGGACTAATTGG	0.547000										HNSCC(18;0.044)			4	15					0	0	1	0	0
TRAV26-2	28656	broad.mit.edu	37	14	22670506	22670506	+	RNA	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:22670506C>T	ENST00000390460.1	+	0	30																											TTACTGTACTCCTATCTTTGG	0.438000													9	31					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170062081	170062081	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:170062081G>A	ENST00000263816.3	-	41	7908	c.7623C>T	c.(7621-7623)ttC>ttT	p.F2541F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2541					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGGGTACGCGGAAGTTTCCTC	0.488000													37	67					0	0	1	0	0
CPSF1	29894	broad.mit.edu	37	8	145619714	145619714	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:145619714C>T	ENST00000349769.3	-	32	3718	c.3624G>A	c.(3622-3624)acG>acA	p.T1208T		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1208					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	p.T1208T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TGTAGAGCTGCGTGTCGATGA	0.622000													12	15					0	0	1	0	0
PITPNA	5306	broad.mit.edu	37	17	1438746	1438746	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:1438746G>A	ENST00000313486.7	-	8	778	c.523C>T	c.(523-525)Ccc>Tcc	p.P175S	PITPNA_ENST00000539476.1_Missense_Mutation_p.P175S	NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha	175					axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		TTCCAATTGGGGCCCAAGGGT	0.567000													7	29					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120600896	120600896	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:120600896G>A	ENST00000300648.6	-	19	2028	c.2016C>T	c.(2014-2016)atC>atT	p.I672I		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	672					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGTGGGAGATGATCAGCATTT	0.607000													16	54					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17071989	17071989	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr22:17071989C>T	ENST00000359963.3	-	1	1711	c.1452G>A	c.(1450-1452)ggG>ggA	p.G484G		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	484					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CATTTATTATCCCTTCAGTTC	0.527000													42	149					0	0	1	0	0
NUB1	51667	broad.mit.edu	37	7	151072975	151072975	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:151072975C>T	ENST00000568733.1	+	13	1575	c.1509C>T	c.(1507-1509)tcC>tcT	p.S503S	NUB1_ENST00000566856.1_Silent_p.S465S|NUB1_ENST00000355851.4_Silent_p.S479S|NUB1_ENST00000413040.2_Silent_p.S489S			Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	479	UBA 3.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		TAAATGATTCCAATCCTGAAA	0.483000													40	163					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161508765	161508765	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:161508765A>T	ENST00000392142.4	+	10	2750	c.2602A>T	c.(2602-2604)Act>Tct	p.T868S	MAP3K4_ENST00000348824.7_Missense_Mutation_p.T868S|MAP3K4_ENST00000366919.2_Missense_Mutation_p.T868S|MAP3K4_ENST00000366920.2_Missense_Mutation_p.T868S	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	868					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TGTTCCAGACACTCTTGCTGA	0.388000													23	80					0	0	1	0	0
SEC24D	9871	broad.mit.edu	37	4	119736678	119736678	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:119736678G>A	ENST00000379735.5	-	5	872	c.601C>T	c.(601-603)Cct>Tct	p.P201S	SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Missense_Mutation_p.P201S	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	201	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GCATTTGGAGGAGGAGGCCCA	0.597000													19	61					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683600	100683600	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:100683600C>T	ENST00000306151.4	+	3	8967	c.8903C>T	c.(8902-8904)tCt>tTt	p.S2968F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2968	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCTAGTTCTTCTCCTACAACT	0.527000													128	407					0	0	1	0	0
RAF1	5894	broad.mit.edu	37	3	12650812	12650812	+	Missense_Mutation	SNP	T	T	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:12650812T>G	ENST00000251849.4	-	4	782	c.343A>C	c.(343-345)Aat>Cat	p.N115H	RAF1_ENST00000542177.1_Missense_Mutation_p.N34H|RAF1_ENST00000442415.2_Missense_Mutation_p.N115H	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1	115	RBD.				activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	GCATCAGTATTCCAATCTAAG	0.338000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				32	92					0	0	1	0	0
EIF1AX	1964	broad.mit.edu	37	X	20156729	20156729	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:20156729T>C	ENST00000379607.5	-	2	231	c.28A>G	c.(28-30)Aaa>Gaa	p.K10E	EIF1AX_ENST00000379593.1_Intron	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	10						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CGTCTGTTTTTACCTCCTTTA	0.308000													31	70					0	0	1	0	0
TAT	6898	broad.mit.edu	37	16	71602113	71602113	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:71602113C>T	ENST00000355962.4	-	12	1432	c.1299G>A	c.(1297-1299)cgG>cgA	p.R433R	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	433					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	ACTCCTGGATCCGGCTGCACG	0.517000													15	48					0	0	1	0	0
OR10G4	390264	broad.mit.edu	37	11	123886368	123886368	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:123886368C>T	ENST00000320891.4	+	1	87	c.87C>T	c.(85-87)ttC>ttT	p.F29F		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TTGGAATCTTCCTGGTGGTTT	0.567000													30	69					0	0	1	0	0
GBP7	388646	broad.mit.edu	37	1	89607329	89607329	+	Silent	SNP	T	T	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:89607329T>G	ENST00000294671.2	-	9	1506	c.1368A>C	c.(1366-1368)gcA>gcC	p.A456A		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	456						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		GGACCTCGTCTGCCTGAAGAA	0.483000													20	61					0	0	1	0	0
LIPN	643418	broad.mit.edu	37	10	90528662	90528662	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:90528662C>T	ENST00000404459.1	+	5	649	c.649C>T	c.(649-651)Cta>Tta	p.L217L		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	217					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		CAGGTTTTTTCTACTTCCAAA	0.368000													13	55					0	0	1	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20368517	20368517	+	RNA	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:20368517C>T	ENST00000593655.1	-	0	199																											GCGGCTCTTCCCTGGGTGGAC	0.512000													6	27					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56481944	56481944	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:56481944C>T	ENST00000267101.3	+	7	1312	c.872C>T	c.(871-873)cCc>cTc	p.P291L	ERBB3_ENST00000415288.2_Missense_Mutation_p.P232L|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	291					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GCCAGCTGTCCCCGTAAGTGT	0.443000													12	31					0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45309857	45309857	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr22:45309857G>A	ENST00000313237.5	-	5	826	c.676C>T	c.(676-678)Cat>Tat	p.H226Y	PHF21B_ENST00000403565.1_Intron|PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000404079.2_Intron|PHF21B_ENST00000396103.3_Intron	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	226							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		AAGATGCCATggaggggtgaa	0.642000													18	51					0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121351010	121351010	+	Missense_Mutation	SNP	C	C	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:121351010C>A	ENST00000314583.3	-	13	1353	c.1262G>T	c.(1261-1263)gGg>gTg	p.G421V	HCLS1_ENST00000428394.2_Missense_Mutation_p.G384V|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	421					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		agccccagccccagccGGGCA	0.542000													20	65					2.89027e-11	2.9527e-11	1	1	0
REG3A	5068	broad.mit.edu	37	2	79384774	79384774	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:79384774C>T	ENST00000393878.1	-	4	638	c.384G>A	c.(382-384)atG>atA	p.M128I	REG3A_ENST00000409839.3_Missense_Mutation_p.M128I|REG3A_ENST00000305165.2_Missense_Mutation_p.M128I	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	128	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						CAAAGTAATTCATCACATCAC	0.547000													19	93					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139889228	139889228	+	Missense_Mutation	SNP	C	C	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:139889228C>G	ENST00000297183.6	+	21	3896	c.3772C>G	c.(3772-3774)Ctt>Gtt	p.L1258V	ANKHD1_ENST00000360839.2_Missense_Mutation_p.L1258V|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.L1258V	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGACGGGTCTTACCCCCTT	0.393000													14	61					0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98388206	98388206	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:98388206C>T	ENST00000339364.5	-	9	1539	c.1420G>A	c.(1420-1422)Gat>Aat	p.D474N	PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.D296N|PIK3AP1_ENST00000371109.3_Missense_Mutation_p.D73N	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	474						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GAGAAACCATCTCCAGGGATT	0.443000													50	169					0	0	1	0	0
RBM7	10179	broad.mit.edu	37	11	114276477	114276477	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:114276477C>T	ENST00000541475.1	+	4	462	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	RBM7_ENST00000540163.1_Nonsense_Mutation_p.Q132*|RBM7_ENST00000375490.5_Nonsense_Mutation_p.Q133*|RBM7_ENST00000545678.1_Nonsense_Mutation_p.Q12*|RBM7_ENST00000544582.1_Nonsense_Mutation_p.Q132*|RP11-212D19.4_ENST00000544347.1_Silent_p.F129F			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	132					meiosis		nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		ACAGATAATTCAGAGATCTTT	0.318000													8	50					0	0	1	0	0
ZNF300P1	134466	broad.mit.edu	37	5	150321863	150321863	+	RNA	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:150321863G>A	ENST00000520773.1	-	0	1385																											ATCTGGTTTGGAAACTGGATA	0.408000													4	19					0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117245850	117245850	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:117245850G>A	ENST00000332958.2	+	15	1590	c.1574G>A	c.(1573-1575)cGa>cAa	p.R525Q		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	525					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	p.R525Q(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CATTTGATTCGAATGCTTCTC	0.383000													20	86					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94139696	94139696	+	Splice_Site	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:94139696G>A	ENST00000553484.1	+	43	6973		c.e43-1		UNC79_ENST00000393151.2_Splice_Site|UNC79_ENST00000555664.1_Splice_Site|UNC79_ENST00000256339.4_Splice_Site			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)							integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GTTTTCTTTAGGAACGAGATA	0.358000													24	56					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197032094	197032094	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:197032094T>C	ENST00000367412.1	-	2	201	c.158A>G	c.(157-159)aAa>aGa	p.K53R		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	53	Sushi 1.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TGACAATTTTTTGTCTATGCT	0.393000													48	152					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058878	79058878	+	Silent	SNP	C	C	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:79058878C>A	ENST00000388820.4	-	19	3585	c.3375G>T	c.(3373-3375)ctG>ctT	p.L1125L		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1125					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						ACCAAGGTCCCAGTACCCCCT	0.687000													4	15					0.150653	0.150653	1	1	0
MEFV	4210	broad.mit.edu	37	16	3293320	3293320	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:3293320C>T	ENST00000219596.1	-	10	2206	c.2167G>A	c.(2167-2169)Gac>Aac	p.D723N	MEFV_ENST00000536379.1_Missense_Mutation_p.D512N|MEFV_ENST00000339854.4_Missense_Mutation_p.D543N|MEFV_ENST00000541159.1_3'UTR	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	723	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.D723N(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	ACTCTGTAGTCCACGAAGATG	0.517000													29	99					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121980708	121980708	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:121980708C>T	ENST00000498619.1	+	4	1264	c.826C>T	c.(826-828)Ctt>Ttt	p.L276F	CASR_ENST00000296154.5_Missense_Mutation_p.L276F|CASR_ENST00000490131.1_Missense_Mutation_p.L276F	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	276					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGGCCCAGATCTTGAGCCCCT	0.557000													45	113					0	0	1	0	0
LNPEP	4012	broad.mit.edu	37	5	96342189	96342189	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:96342189C>T	ENST00000231368.5	+	11	2697	c.2005C>T	c.(2005-2007)Caa>Taa	p.Q669*	LNPEP_ENST00000395770.3_Nonsense_Mutation_p.Q655*	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	669					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TTCAAAATATCAATCGGTATC	0.303000													17	30					0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79837979	79837979	+	Missense_Mutation	SNP	A	A	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:79837979A>C	ENST00000261205.4	+	10	1712	c.1055A>C	c.(1054-1056)cAa>cCa	p.Q352P	SYT1_ENST00000393240.3_Missense_Mutation_p.Q352P|RP1-78O14.1_ENST00000550268.1_lincRNA|SYT1_ENST00000457153.2_Missense_Mutation_p.Q349P|SYT1_ENST00000552744.1_Missense_Mutation_p.Q352P	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	352	C2 2.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CCTTTTGAACAAATCCAGGTA	0.358000													35	144					0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31091182	31091182	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:31091182G>A	ENST00000394979.2	+	1	3960	c.3537G>A	c.(3535-3537)ggG>ggA	p.G1179G	ZNF646_ENST00000300850.5_Silent_p.G1179G			O15015	ZN646_HUMAN	zinc finger protein 646	1179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CTGTGAAGGGGGAGGAGATAG	0.592000													3	20					0	0	1	0	0
MED8	112950	broad.mit.edu	37	1	43853204	43853204	+	Silent	SNP	C	C	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:43853204C>G	ENST00000372457.4	-	3	283	c.240G>C	c.(238-240)gtG>gtC	p.V80V	RP1-92O14.6_ENST00000436713.1_RNA|MED8_ENST00000372455.4_5'UTR|MED8_ENST00000290663.6_Silent_p.V80V	NM_001001653.2|NM_201542.3	NP_001001653.1|NP_963836.2	Q96G25	MED8_HUMAN	mediator complex subunit 8	80					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTGGAGACAACACCAGAGGAA	0.423000													37	28					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103354185	103354185	+	Splice_Site	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:103354185C>T	ENST00000358392.2	-	62	4909	c.4590_splice	c.e62-1	p.G1531_splice	COL11A1_ENST00000370096.3_Splice_Site_p.G1519_splice|COL11A1_ENST00000512756.1_Splice_Site_p.G1403_splice|COL11A1_ENST00000353414.4_Splice_Site_p.G1480_splice	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1519	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCCAGCGGGTCCCTGTTAGAA	0.413000													12	42					0	0	1	0	0
LATS1	9113	broad.mit.edu	37	6	150005421	150005421	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:150005421C>T	ENST00000543571.1	-	4	1351	c.804G>A	c.(802-804)tgG>tgA	p.W268*	LATS1_ENST00000392273.3_Nonsense_Mutation_p.W268*|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Nonsense_Mutation_p.W268*	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	268					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		AGTTTGGTTCCCATGAAGGGG	0.547000													53	135					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2813624	2813624	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:2813624C>T	ENST00000301740.8	+	11	3644	c.3095C>T	c.(3094-3096)tCc>tTc	p.S1032F		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1032	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TGCCCTGGATCCCTCTCTCTC	0.483000													35	109					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120998980	120998980	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:120998980G>A	ENST00000392793.1	+	9	2565	c.2294G>A	c.(2293-2295)tGg>tAg	p.W765*	TECTA_ENST00000264037.2_Nonsense_Mutation_p.W765*			O75443	TECTA_HUMAN	tectorin alpha	765	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGACCTGCTTGGCTGCGGGGA	0.592000													19	51					0	0	1	0	0
MSH6	2956	broad.mit.edu	37	2	48023039	48023039	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:48023039A>G	ENST00000234420.4	+	3	616	c.464A>G	c.(463-465)aAa>aGa	p.K155R	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_5'UTR|MSH6_ENST00000540021.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	155					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTAGGTTCAAAATCAAAGGAA	0.438000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				6	44					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164323	150164323	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:150164323C>T	ENST00000307271.3	+	2	1111	c.537C>T	c.(535-537)atC>atT	p.I179I		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	179						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		ATGAGCAGATCACCCAGGTGT	0.438000													45	107					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90502089	90502089	+	Missense_Mutation	SNP	G	G	A	rs139269965		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:90502089G>A	ENST00000325643.5	+	4	2753	c.2687G>A	c.(2686-2688)gGa>gAa	p.G896E		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		ATTTTCCTGGGAAAACGTCCT	0.597000													20	34					0	0	1	0	0
WIPF3	644150	broad.mit.edu	37	7	29918687	29918687	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:29918687C>T	ENST00000409290.1	+	3	286	c.286C>T	c.(286-288)Ccc>Tcc	p.P96S	WIPF3_ENST00000409123.1_Missense_Mutation_p.P96S|WIPF3_ENST00000242140.5_Missense_Mutation_p.P96S	NM_001080529.2	NP_001073998.2	B8ZZV2	B8ZZV2_HUMAN	WAS/WASL interacting protein family, member 3	96										breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						GAGCACACCTCCCACCCTGGG	0.517000													10	17					0	0	1	0	0
PAX6	5080	broad.mit.edu	37	11	31816322	31816322	+	Missense_Mutation	SNP	G	G	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:31816322G>T	ENST00000419022.1	-	9	1048	c.580C>A	c.(580-582)Cag>Aag	p.Q194K	PAX6_ENST00000379129.2_Missense_Mutation_p.Q194K|PAX6_ENST00000379123.5_Missense_Mutation_p.Q180K|PAX6_ENST00000379132.3_Missense_Mutation_p.Q180K|PAX6_ENST00000379111.2_Missense_Mutation_p.Q180K|PAX6_ENST00000379115.4_Missense_Mutation_p.Q194K|PAX6_ENST00000241001.8_Missense_Mutation_p.Q180K|PAX6_ENST00000379107.2_Missense_Mutation_p.Q194K	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	180	Gln/Gly-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					CCTCCTTCCTGTTGCTGGCAG	0.468000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				18	84					7.07596e-05	7.13811e-05	1	1	0
SLCO4C1	353189	broad.mit.edu	37	5	101606459	101606459	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:101606459G>A	ENST00000310954.6	-	3	957	c.671C>T	c.(670-672)tCa>tTa	p.S224L		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	224					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GTTAGAAAGTGAAGAAGTTGA	0.363000													20	34					0	0	1	0	0
TMED3	23423	broad.mit.edu	37	15	79614547	79614547	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:79614547C>T	ENST00000299705.5	+	3	833	c.645C>T	c.(643-645)gtC>gtT	p.V215V	TMED3_ENST00000424155.2_Intron|TMED3_ENST00000536821.1_Intron|TMED3_ENST00000558562.1_3'UTR	NM_007364.2	NP_031390.1	Q9Y3Q3	TMED3_HUMAN	transmembrane emp24 protein transport domain containing 3	215					protein transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane				large_intestine(3)|lung(4)|ovary(1)|skin(1)	9						GCAGGGCAGTCCACTCCTAGC	0.607000													14	76					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26164846	26164846	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr22:26164846C>T	ENST00000335473.7	+	4	1213	c.963C>T	c.(961-963)ttC>ttT	p.F321F	MYO18B_ENST00000536101.1_Silent_p.F321F|MYO18B_ENST00000407587.2_Silent_p.F321F	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	321						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGGGAGGTTTCCTGGGAAGAA	0.532000													4	20					0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904250	73904250	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:73904250G>A	ENST00000342056.2	+	15	2367	c.1969G>A	c.(1969-1971)Gcc>Acc	p.A657T	KCNQ5_ENST00000414165.2_Missense_Mutation_p.A528T|KCNQ5_ENST00000403813.2_Missense_Mutation_p.A629T|KCNQ5_ENST00000402622.2_Missense_Mutation_p.A648T|KCNQ5_ENST00000370398.1_Missense_Mutation_p.A638T|KCNQ5_ENST00000355635.3_Missense_Mutation_p.A639T|KCNQ5_ENST00000355194.4_Missense_Mutation_p.A638T	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	638					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CTCTGCCTCAGCCCTCGCTTT	0.478000													15	60					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30740292	30740292	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:30740292C>T	ENST00000262518.4	+	26	6049	c.5664C>T	c.(5662-5664)tcC>tcT	p.S1888S	SRCAP_ENST00000395059.2_Silent_p.S1826S|SRCAP_ENST00000344771.4_Silent_p.S1730S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1888					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCCAGGACTCCCTGGAGGAAA	0.507000													18	104					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35727852	35727852	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:35727852C>T	ENST00000440995.2	+	21	2975	c.2975C>T	c.(2974-2976)cCt>cTt	p.P992L	SPEF2_ENST00000356031.3_Missense_Mutation_p.P997L|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	997					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GATACATCACCTGTTGCAATA	0.418000													25	92					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124380618	124380618	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:124380618G>A	ENST00000368909.3	+	41	5049	c.4943G>A	c.(4942-4944)aGg>aAg	p.R1648K	DMBT1_ENST00000368956.2_Missense_Mutation_p.R1020K|DMBT1_ENST00000368955.3_Missense_Mutation_p.R1638K|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.R1638K|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1020K|DMBT1_ENST00000338354.3_Missense_Mutation_p.R1648K	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1648	SRCR 13.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGAGGTGACAGGTGTCGAGGC	0.532000													96	279					0	0	1	0	0
HSPA2	3306	broad.mit.edu	37	14	65009365	65009365	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:65009365A>G	ENST00000247207.6	+	1	2180	c.1798A>G	c.(1798-1800)Aaa>Gaa	p.K600E	HSPA2_ENST00000394709.1_Missense_Mutation_p.K600E	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	600					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		ACACAAGCAGAAAGAGCTCGA	0.557000													21	59					0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48936112	48936112	+	Missense_Mutation	SNP	G	G	A	rs149917479		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:48936112G>A	ENST00000294954.7	-	8	676	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Missense_Mutation_p.R219C|LHCGR_ENST00000405626.1_Missense_Mutation_p.R219C|LHCGR_ENST00000403273.1_Missense_Mutation_p.R219C|LHCGR_ENST00000344775.3_Missense_Mutation_p.R219C	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	219					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GTGGCCCCACGGAAGGCTCCA	0.542000													30	114					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56481962	56481962	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:56481962C>T	ENST00000291971.3	+	6	2505	c.2434C>T	c.(2434-2436)Ctt>Ttt	p.L812F	NLRP8_ENST00000590542.1_Missense_Mutation_p.L812F	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	812						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGGCAATAATCTTCAAGGTAA	0.488000													54	144					0	0	1	0	0
CECR1	51816	broad.mit.edu	37	22	17690307	17690307	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr22:17690307G>A	ENST00000399839.1	-	2	531	c.261C>T	c.(259-261)ttC>ttT	p.F87F	CECR1_ENST00000262607.3_Silent_p.F87F|CECR1_ENST00000399837.2_Silent_p.F87F|CECR1_ENST00000449907.2_Silent_p.F45F			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	87	Dimerization.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GCTTGGCCTGGAAAAAGTGCA	0.502000													9	46					0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62551076	62551076	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:62551076C>T	ENST00000430451.2	+	5	1794	c.1597C>T	c.(1597-1599)Cga>Tga	p.R533*		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	533	C2 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CAGCCATTTCCGAAACCTCGC	0.537000													10	47					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132241685	132241685	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:132241685T>C	ENST00000260818.6	+	49	5935	c.5687T>C	c.(5686-5688)tTa>tCa	p.L1896S		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1896							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CGAATTACGTTAATGAAATTT	0.328000													8	35					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55933887	55933887	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:55933887C>T	ENST00000244728.5	-	22	2445	c.2048G>A	c.(2047-2049)gGa>gAa	p.G683E	COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370819.1_Missense_Mutation_p.G680E|COL21A1_ENST00000535941.1_Missense_Mutation_p.G683E|COL21A1_ENST00000370808.2_Missense_Mutation_p.G83E	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	683	Collagen-like 4.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCCTGGTTCTCCTGGGGAACC	0.418000													4	15					0	0	1	0	0
LECT2	3950	broad.mit.edu	37	5	135286927	135286927	+	Nonsense_Mutation	SNP	G	G	A	rs138618187		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:135286927G>A	ENST00000274507.1	-	3	474	c.274C>T	c.(274-276)Cga>Tga	p.R92*	LECT2_ENST00000522943.1_Nonsense_Mutation_p.R92*|LECT2_ENST00000514447.2_Nonsense_Mutation_p.R92*|LECT2_ENST00000471827.1_5'UTR|FBXL21_ENST00000467490.1_RNA|LECT2_ENST00000512872.1_Nonsense_Mutation_p.R20*	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2	92					chemotaxis|skeletal system development	cytoplasm|extracellular space				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCAGATATTCGAACACCATTA	0.443000													17	39					0	0	1	0	0
OR3A4P	390756	broad.mit.edu	37	17	3214341	3214341	+	RNA	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:3214341C>T	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA																							ACGTGTAGTTCCCACCTCACT	0.567000													30	73					0	0	1	0	0
CES4A	283848	broad.mit.edu	37	16	67038069	67038069	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:67038069C>T	ENST00000540947.2	+	9	1206	c.1022C>T	c.(1021-1023)tCa>tTa	p.S341L	CES4A_ENST00000540579.1_Missense_Mutation_p.S243L|CES4A_ENST00000338718.4_Missense_Mutation_p.S364L|CES4A_ENST00000541479.1_Missense_Mutation_p.S364L|CES4A_ENST00000326686.5_Missense_Mutation_p.S341L|CES4A_ENST00000398354.1_Missense_Mutation_p.S341L|CES4A_ENST00000535696.1_Missense_Mutation_p.S247L	NM_173815.6	NP_776176.5	Q5XG92	EST4A_HUMAN	carboxylesterase 4A	341						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						GGGAAGGTTTCATCTGTGCCC	0.493000													34	111					0	0	1	0	0
MAPK6	5597	broad.mit.edu	37	15	52356225	52356225	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:52356225C>T	ENST00000261845.5	+	6	2001	c.1194C>T	c.(1192-1194)ccC>ccT	p.P398P	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	398					cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		AAGTTGATCCCCGAAAATATT	0.408000													29	76					0	0	1	0	0
RDH8	50700	broad.mit.edu	37	19	10124162	10124162	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:10124162G>A	ENST00000591589.1	+	1	238	c.49G>A	c.(49-51)Gag>Aag	p.E17K	RDH8_ENST00000171214.1_5'UTR			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	0					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CGAGTCCAGGGAGGGGATCAA	0.617000													16	60					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25275033	25275033	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr13:25275033C>T	ENST00000218548.6	+	13	2205	c.1872C>T	c.(1870-1872)gtC>gtT	p.V624V	ATP12A_ENST00000381946.3_Silent_p.V618V	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	618					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CAGATGCAGTCACCAAATGCC	0.463000													14	58					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42035012	42035012	+	Silent	SNP	T	T	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:42035012T>A	ENST00000219905.7	+	15	5035	c.4854T>A	c.(4852-4854)atT>atA	p.I1618I	MGA_ENST00000389936.4_Silent_p.I1618I|MGA_ENST00000570161.1_Silent_p.I1618I|MGA_ENST00000545763.1_Intron|MGA_ENST00000566586.1_Intron	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1618	Thr-rich.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TGACTGCTATTTCTGACGTGG	0.453000													20	90					0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77451873	77451873	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:77451873G>A	ENST00000308488.6	-	4	783	c.481C>T	c.(481-483)Ctc>Ttc	p.L161F	RSF1_ENST00000360355.2_Missense_Mutation_p.L130F			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	161					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CAGTACATGAGGCCATCTTTG	0.398000													20	65					0	0	1	0	0
SLC22A17	51310	broad.mit.edu	37	14	23817419	23817419	+	Silent	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:23817419G>A	ENST00000354772.3	-	6	1292	c.789C>T	c.(787-789)aaC>aaT	p.N263N	SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397267.1_Silent_p.N263N|SLC22A17_ENST00000206544.8_Silent_p.N263N|SLC22A17_ENST00000397260.3_Silent_p.N152N	NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	263					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CATGGGGCCGGTTTCGCTCAG	0.612000													19	71					0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102153961	102153961	+	Translation_Start_Site	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:102153961G>A	ENST00000466937.1	+	0	85				ZPLD1_ENST00000306176.1_Start_Codon_SNP_p.M1I|ZPLD1_ENST00000491959.1_Intron			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1							integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ATGGCAAGATGATGCTCAGGT	0.383000													17	62					0	0	1	0	0
LDLRAD4	753	broad.mit.edu	37	18	13621218	13621218	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr18:13621218C>T	ENST00000361205.4	+	5	952	c.284C>T	c.(283-285)tCc>tTc	p.S95F	LDLRAD4_ENST00000399848.3_Missense_Mutation_p.S95F|LDLRAD4_ENST00000359446.5_Missense_Mutation_p.S95F|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.S18F|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.S58F|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.S58F	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1			low density lipoprotein receptor class A domain containing 4																		TCCACGCGGTCCTTCATCAAC	0.632000													13	69					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21501018	21501018	+	Splice_Site	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr18:21501018G>A	ENST00000313654.9	+	61	8284	c.8043_splice	c.e61+1	p.S2681_splice	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Splice_Site_p.S1016_splice|LAMA3_ENST00000399516.3_Splice_Site_p.S2625_splice|LAMA3_ENST00000269217.6_Splice_Site_p.S1072_splice	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2681	Laminin G-like 2.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAGACCATTCGGTACACCTTT	0.383000													13	34					0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	54050045	54050045	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:54050045C>T	ENST00000373980.4	+	17	2374	c.1957C>T	c.(1957-1959)Cca>Tca	p.P653S	PRKG1_ENST00000373985.1_Missense_Mutation_p.P626S|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373975.2_Missense_Mutation_p.P356S|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000401604.2_Missense_Mutation_p.P638S	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	638	AGC-kinase C-terminal.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TCCTATAATACCAAGTGTAAG	0.333000													27	88					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30740291	30740291	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:30740291C>T	ENST00000262518.4	+	26	6048	c.5663C>T	c.(5662-5664)tCc>tTc	p.S1888F	SRCAP_ENST00000395059.2_Missense_Mutation_p.S1826F|SRCAP_ENST00000344771.4_Missense_Mutation_p.S1730F	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1888					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCCCAGGACTCCCTGGAGGAA	0.507000													18	101					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168123363	168123363	+	Missense_Mutation	SNP	C	C	T	rs142215582	byFrequency	TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:168123363C>T	ENST00000519560.1	-	28	3435	c.3016G>A	c.(3016-3018)Gaa>Aaa	p.E1006K	SLIT3_ENST00000404867.3_Missense_Mutation_p.E1006K|SLIT3_ENST00000332966.8_Missense_Mutation_p.E1013K	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1006	EGF-like 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCATTGTTTTCGCAGTCGTTG	0.547000													18	92					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131976362	131976362	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:131976362G>A	ENST00000356920.5	+	1	481	c.387G>A	c.(385-387)atG>atA	p.M129I	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.M129I|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	129							ATP binding										GCGCCTTCATGGAGCCCAGGT	0.602000													20	107					0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30831093	30831093	+	Missense_Mutation	SNP	C	C	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:30831093C>A	ENST00000265299.6	+	5	1053	c.976C>A	c.(976-978)Ccc>Acc	p.P326T	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	326										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGACAGGATGCCCTTGAAGCT	0.637000													13	29					2.27111e-07	2.30261e-07	1	1	0
MAGEB16	139604	broad.mit.edu	37	X	35820590	35820590	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:35820590G>A	ENST00000399989.1	+	2	556	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	MAGEB16_ENST00000399988.1_Missense_Mutation_p.E93K|MAGEB16_ENST00000399985.1_Missense_Mutation_p.E93K|MAGEB16_ENST00000399992.1_Missense_Mutation_p.E125K|MAGEB16_ENST00000399987.1_Missense_Mutation_p.E93K	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	93										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TCAAGAAGAGGAAGATAGTCC	0.493000													10	11					0	0	1	0	0
CLCNKB	1188	broad.mit.edu	37	1	16378205	16378205	+	Splice_Site	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:16378205G>A	ENST00000375679.4	+	14	1409	c.1297_splice	c.e14-1	p.G433_splice	CLCNKB_ENST00000375667.3_Splice_Site_p.G264_splice	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTGGCCAGGAGCTGCTATC	0.622000													35	94					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121137202	121137202	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:121137202G>A	ENST00000273666.6	+	27	3588	c.3317G>A	c.(3316-3318)gGa>gAa	p.G1106E	STXBP5L_ENST00000471454.1_Missense_Mutation_p.G1082E	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1106					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GCTTCGGCAGGAAAAGCATCC	0.473000													5	36					0	0	1	0	0
MAATS1	89876	broad.mit.edu	37	3	119445028	119445028	+	Silent	SNP	C	C	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:119445028C>T	ENST00000273390.5	+	7	770	c.693C>T	c.(691-693)ctC>ctT	p.L231L		NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		GTCGGGGTCTCCCAGCAGGAC	0.547000													5	21					0	0	1	0	0
OR2T35	403244	broad.mit.edu	37	1	248801602	248801603	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:248801602_248801603insCA	ENST00000317450.3	-	1	956_957	c.957_958insTG	c.(955-960)gttcagfs	p.Q320fs		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I320fs*1(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCTTCCTGATCACAGTCGCCA	0.545													3	4	---	---	---	---					
IDO2	169355	broad.mit.edu	37	8	39847305	39847306	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:39847305_39847306delGC	ENST00000502986.2	+	8	896_897	c.654_655delGC	c.(652-657)cagafs	p.QR218fs	IDO2_ENST00000389060.4_Frame_Shift_Del_p.QR205fs|RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000343295.4_3'UTR	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	205					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						AAGCCCTGCAGCGACTGAGACT	0.535											OREG0018729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	14	---	---	---	---					
CACNA1C	775	broad.mit.edu	37	12	2778120	2778127	+	Frame_Shift_Del	DEL	CCTCTGAA	CCTCTGAA	-			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:2778120_2778127delCCTCTGAA	ENST00000399655.1	+	38	4910_4917	c.4645_4652delCCTCTGAA	c.(4645-4653)cfs	p.PLN1549fs	CACNA1C_ENST00000399634.1_Frame_Shift_Del_p.PLN1549fs|CACNA1C_ENST00000399591.1_Frame_Shift_Del_p.PLN1538fs|CACNA1C_ENST00000327702.7_Frame_Shift_Del_p.PLN1549fs|CACNA1C_ENST00000399649.1_Frame_Shift_Del_p.PLN1536fs|CACNA1C_ENST00000406454.3_Frame_Shift_Del_p.PLN1549fs|CACNA1C_ENST00000399638.1_Frame_Shift_Del_p.PLN1577fs|CACNA1C_ENST00000399629.1_Frame_Shift_Del_p.PLN1566fs|CACNA1C_ENST00000399595.1_Frame_Shift_Del_p.PLN1538fs|CACNA1C_ENST00000399641.1_Frame_Shift_Del_p.PLN1549fs|CACNA1C_ENST00000399606.1_Frame_Shift_Del_p.PLN1569fs|CACNA1C_ENST00000344100.3_Frame_Shift_Del_p.PLN1571fs|CACNA1C_ENST00000399617.1_Frame_Shift_Del_p.PLN1549fs|CACNA1C_ENST00000399621.1_Frame_Shift_Del_p.PLN1549fs|CACNA1C_ENST00000399601.1_Frame_Shift_Del_p.PLN1549fs|CACNA1C_ENST00000399597.1_Frame_Shift_Del_p.PLN1549fs|CACNA1C_ENST00000399644.1_Frame_Shift_Del_p.PLN1549fs|CACNA1C_ENST00000402845.3_Frame_Shift_Del_p.PLN1549fs|CACNA1C_ENST00000399637.1_Frame_Shift_Del_p.PLN1549fs|CACNA1C_ENST00000347598.4_Frame_Shift_Del_p.PLN1597fs|CACNA1C-AS2_ENST00000545526.1_RNA|CACNA1C_ENST00000335762.5_Frame_Shift_Del_p.PLN1574fs|CACNA1C_ENST00000399603.1_Frame_Shift_Del_p.PLN1549fs	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1597					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CATGAACATGCCTCTGAACAGCGACGGG	0.587													18	120	---	---	---	---					
UNG	7374	broad.mit.edu	37	12	109536377	109536378	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:109536377_109536378insGT	ENST00000336865.2	+	1	455_456	c.246_247insGT	c.(244-249)cctgggfs	p.G83fs	UNG_ENST00000242576.2_Frame_Shift_Ins_p.G92fs	NM_003362.3	NP_003353.1	P13051	UNG_HUMAN	uracil-DNA glycosylase	92					base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						GCAACGTGCCCGTGGGCTTTGG	0.594								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM				15	105	---	---	---	---					
ARHGAP35	2909	broad.mit.edu	37	19	47423663	47423665	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:47423663_47423665delGTT	ENST00000404338.3	+	1	1731_1733	c.1731_1733delGTT	c.(1729-1734)cgt>cg	p.RF577del		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	577					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										TTAGTTCTCGGTTTATCCGGCCG	0.468													14	137	---	---	---	---					
BRD1	23774	broad.mit.edu	37	22	50187690	50187690	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr22:50187690delC	ENST00000216267.8	-	6	2837	c.2351delG	c.(2350-2352)gcfs	p.G784fs	BRD1_ENST00000342989.5_Frame_Shift_Del_p.G379fs|BRD1_ENST00000404034.1_Frame_Shift_Del_p.G784fs|BRD1_ENST00000404760.1_Frame_Shift_Del_p.G784fs|BRD1_ENST00000457780.2_Frame_Shift_Del_p.G784fs|BRD1_ENST00000542442.1_Frame_Shift_Del_p.G472fs	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	784					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ACCTTCCTCGCCCGCCTCCGG	0.687													12	48	---	---	---	---					
