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
CEP152	22995	broad.mit.edu	37	15	49030868	49030868	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr15:49030868A>G	ENST00000380950.2	-	27	4898	c.4711T>C	c.(4711-4713)Tgc>Cgc	p.C1571R	CEP152_ENST00000399334.3_Missense_Mutation_p.C1515R	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1515					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	p.C1515R(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CAGCCCAAGCAGTCACTAAGG	0.453000													7	30					0	0	0.047766	0	0
NLGN2	57555	broad.mit.edu	37	17	7317981	7317981	+	Splice_Site	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr17:7317981G>T	ENST00000302926.2	+	4	731		c.e4-1		NLGN2_ENST00000575301.1_Splice_Site	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2						cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity	p.?(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				TCTACTCCCAGGTTTTCTCAG	0.607000													68	120					1.25089e-41	2.11798e-41	0.048971	1	0
PIK3AP1	118788	broad.mit.edu	37	10	98469537	98469537	+	Missense_Mutation	SNP	C	C	T	rs146527410	byFrequency	TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr10:98469537C>T	ENST00000339364.5	-	2	336	c.217G>A	c.(217-219)Gcg>Acg	p.A73T		NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	73						cytoplasm|plasma membrane		p.A73T(1)		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)		ACCAGCTCCGCGGACAGCAGC	0.652000													53	89					0	0	0.048971	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33577084	33577084	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr5:33577084G>T	ENST00000504830.1	-	19	3382	c.3047C>A	c.(3046-3048)cCa>cAa	p.P1016Q	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P931Q|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1016	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P1016Q(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TAGTGTTGGTGGGTTTTTTCC	0.537000										HNSCC(64;0.19)			31	158					4.02929e-09	4.89427e-09	0.045705	1	0
PLG	5340	broad.mit.edu	37	6	161135878	161135878	+	Silent	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr6:161135878C>A	ENST00000308192.9	+	6	663	c.600C>A	c.(598-600)acC>acA	p.T200T		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	200	Kringle 2.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	p.T200T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TTTCCAAGACCATGTCTGGAC	0.463000													26	45					1.06801e-11	1.38377e-11	0.041601	1	0
USH2A	7399	broad.mit.edu	37	1	215848813	215848813	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:215848813G>T	ENST00000366943.2	-	63	12826	c.12440C>A	c.(12439-12441)cCt>cAt	p.P4147H	USH2A_ENST00000307340.3_Missense_Mutation_p.P4147H			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4147	Fibronectin type-III 26.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.P4147H(1)		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)		TGTCCACAGAGGCTGAGGCGC	0.572000										HNSCC(13;0.011)			12	61					5.50884e-06	6.14077e-06	0.013537	1	0
THBS2	7058	broad.mit.edu	37	6	169648860	169648860	+	Silent	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr6:169648860C>A	ENST00000366787.3	-	4	510	c.261G>T	c.(259-261)acG>acT	p.T87T		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	87	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.T87T(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TGAGCTGGGCCGTGAGGAAGA	0.617000													40	134					4.00102e-26	6.20991e-26	0.025465	1	0
ZNF227	7770	broad.mit.edu	37	19	44740634	44740634	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr19:44740634G>T	ENST00000313040.7	+	6	2256	c.2051G>T	c.(2050-2052)gGa>gTa	p.G684V	ZNF227_ENST00000391961.2_Missense_Mutation_p.G633V|ZNF227_ENST00000589005.1_Missense_Mutation_p.G633V|ZNF235_ENST00000589799.1_3'UTR	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	684					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G684V(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				GGCCACACTGGAGAAAAACCT	0.468000													20	59					6.44725e-10	8.00534e-10	0.014323	1	0
KMT2C	58508	broad.mit.edu	37	7	151962157	151962157	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr7:151962157G>C	ENST00000355193.2	-	8	1368	c.1150C>G	c.(1150-1152)Caa>Gaa	p.Q384E	KMT2C_ENST00000262189.6_Missense_Mutation_p.Q384E					lysine (K)-specific methyltransferase 2C									p.Q384E(2)									TCAGGACATTGCCAACCTGCA	0.428000													18	288					0	0	0.030593	0	0
NEB	4703	broad.mit.edu	37	2	152522052	152522052	+	Splice_Site	SNP	T	T	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr2:152522052T>A	ENST00000397345.3	-	42	5235	c.5031_splice	c.e42-1	p.N1678_splice	NEB_ENST00000427231.2_Splice_Site_p.N1678_splice|NEB_ENST00000603639.1_Splice_Site_p.N1678_splice|NEB_ENST00000409198.1_Splice_Site_p.N1678_splice|NEB_ENST00000172853.10_Splice_Site_p.N1678_splice|NEB_ENST00000604864.1_Splice_Site_p.N1678_splice	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	1678					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	p.N1678I(2)		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)		TTTGTACAGATTCTTTACAAT	0.398000													9	15					0	0	0.008291	0	0
ZNF646	9726	broad.mit.edu	37	16	31092791	31092791	+	Silent	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr16:31092791C>T	ENST00000394979.2	+	1	5569	c.5146C>T	c.(5146-5148)Ctg>Ttg	p.L1716L	ZNF646_ENST00000300850.5_Silent_p.L1716L			O15015	ZN646_HUMAN	zinc finger protein 646	1716					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.L1716L(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TCTCCCTAACCTGCTGTCTCT	0.632000													47	355					0	0	0.048971	0	0
UNC79	57578	broad.mit.edu	37	14	94088409	94088409	+	Silent	SNP	A	A	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr14:94088409A>G	ENST00000553484.1	+	31	5050	c.4896A>G	c.(4894-4896)ctA>ctG	p.L1632L	UNC79_ENST00000393151.2_Silent_p.L1610L|UNC79_ENST00000256339.4_Silent_p.L1433L|UNC79_ENST00000555664.1_Silent_p.L1610L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1610						integral to membrane		p.L1433L(1)|p.L1632L(1)		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						TGATAGATCTATCCTCAGATT	0.463000													49	96					0	0	0.048971	0	0
LGR5	8549	broad.mit.edu	37	12	71978333	71978333	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr12:71978333G>T	ENST00000266674.5	+	18	2854	c.2543G>T	c.(2542-2544)aGc>aTc	p.S848I	LGR5_ENST00000540815.2_Missense_Mutation_p.S824I|LGR5_ENST00000536515.1_Missense_Mutation_p.S776I			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	848						integral to plasma membrane	protein-hormone receptor activity	p.S848I(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						AAACACCCAAGCTTGATGTCA	0.448000													36	112					1.06647e-15	1.47589e-15	0.064281	1	0
ZNF23	7571	broad.mit.edu	37	16	71512893	71512893	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr16:71512893C>G	ENST00000561908.1	-	4	551	c.49G>C	c.(49-51)Gag>Cag	p.E17Q	ZNF19_ENST00000565637.1_5'UTR|ZNF19_ENST00000567225.1_Missense_Mutation_p.E17Q|ZNF19_ENST00000288177.5_Missense_Mutation_p.E17Q|ZNF19_ENST00000564230.1_Missense_Mutation_p.E17Q|ZNF19_ENST00000565100.2_Intron														p.E17Q(1)									GCCACATCCTCGAAGGTCACC	0.562000													21	150					0	0	0.021523	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	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)			4	12					0	0	0.021553	0	0
ANGPT1	284	broad.mit.edu	37	8	108264099	108264099	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr8:108264099C>T	ENST00000520734.1	-	8	1166	c.881G>A	c.(880-882)cGa>cAa	p.R294Q	ANGPT1_ENST00000520052.1_Missense_Mutation_p.R293Q|ANGPT1_ENST00000518386.1_5'UTR			Q15389	ANGP1_HUMAN	angiopoietin 1	494	Fibrinogen C-terminal.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	p.R494Q(1)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			ATCTAAAGGTCGAATCATCAT	0.413000													14	79					0	0	0.020292	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072057	17072057	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr22:17072057C>G	ENST00000359963.3	-	1	1643	c.1384G>C	c.(1384-1386)Gac>Cac	p.D462H		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	462					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.D462H(1)		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)				GCCATCACGTCTGAGACAGCT	0.527000													71	196					0	0	0.048971	0	0
SLTM	79811	broad.mit.edu	37	15	59191867	59191867	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr15:59191867C>A	ENST00000380516.2	-	7	946	c.859G>T	c.(859-861)Gca>Tca	p.A287S	SLTM_ENST00000536328.1_Intron	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	287					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	p.A287S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGGCTCTGTGCAATGGCGTCC	0.453000													10	93					0.000978159	0.00103366	0.010729	1	0
BCAS3	54828	broad.mit.edu	37	17	59445833	59445833	+	Silent	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr17:59445833G>T	ENST00000589222.1	+	23	2639	c.2571G>T	c.(2569-2571)cgG>cgT	p.R857R	BCAS3_ENST00000390652.5_Silent_p.R872R|BCAS3_ENST00000588874.1_Silent_p.R628R|BCAS3_ENST00000588462.1_Silent_p.R872R|BCAS3_ENST00000408905.3_Silent_p.R857R|RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000585744.1_Silent_p.R643R|BCAS3_ENST00000407086.3_Silent_p.R857R|BCAS3_ENST00000585812.1_3'UTR			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	872						nucleus		p.R872R(1)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CACCTAGCCGGGACGTCGTGG	0.612000													10	47					3.99206e-14	5.40742e-14	0.043863	1	0
L3MBTL2	83746	broad.mit.edu	37	22	41615532	41615532	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr22:41615532A>T	ENST00000216237.5	+	6	868	c.710A>T	c.(709-711)cAg>cTg	p.Q237L		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	237					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	p.Q237L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCTGTCATCCAGACAGCAGGT	0.552000													18	32					0	0	0.014323	0	0
GAN	8139	broad.mit.edu	37	16	81388292	81388292	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr16:81388292G>T	ENST00000248272.3	+	3	727	c.565G>T	c.(565-567)Gtt>Ttt	p.V189F		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	189	BACK.				cell death	cytoplasm|neurofilament	protein binding	p.V189F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				GAAGTTAAACGTTGGCAATGA	0.383000													83	63					4.64247e-43	7.9509e-43	0.048971	1	0
CEL	1056	broad.mit.edu	37	9	135947032	135947032	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr9:135947032C>A	ENST00000372080.4	+	11	2168	c.2152C>A	c.(2152-2154)Ccg>Acg	p.P718T	CEL_ENST00000351304.7_Missense_Mutation_p.P649T	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	715	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	p.P718T(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CGCCCCCGTGCCGCCCACGGG	0.766000													3	15					1.23904e-05	1.36753e-05	0.014758	1	0
PARVB	29780	broad.mit.edu	37	22	44527413	44527413	+	Silent	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr22:44527413C>T	ENST00000338758.6	+	5	486	c.423C>T	c.(421-423)tcC>tcT	p.S141S	PARVB_ENST00000404989.1_Silent_p.S104S|PARVB_ENST00000406477.3_Silent_p.S174S	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	141	CH 1.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding	p.S174S(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				TGACACAGTCCGAAATAGGGC	0.577000													7	50					0	0	0.038147	0	0
GIP	2695	broad.mit.edu	37	17	47041781	47041781	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr17:47041781G>A	ENST00000357424.2	-	3	248	c.148C>T	c.(148-150)Ccc>Tcc	p.P50S		NM_004123.2	NP_004114.1	P09681	GIP_HUMAN	gastric inhibitory polypeptide	50					energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity	p.P50S(1)		lung(2)|skin(1)|stomach(1)	4						GCGTACCTGGGGCCTCGAGGT	0.567000													22	177					0	0	0.014323	0	0
ZNF527	84503	broad.mit.edu	37	19	37879423	37879423	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr19:37879423A>G	ENST00000436120.2	+	5	579	c.472A>G	c.(472-474)Act>Gct	p.T158A	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	158					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T158A(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGAAATCTCTACTGGGAAAAG	0.398000													33	44					0	0	0.027894	0	0
RIMS2	9699	broad.mit.edu	37	8	104955095	104955095	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr8:104955095C>A	ENST00000507740.1	+	11	2254	c.2018C>A	c.(2017-2019)cCt>cAt	p.P673H	RIMS2_ENST00000436393.2_Missense_Mutation_p.P659H|RIMS2_ENST00000262231.10_Missense_Mutation_p.P720H|RIMS2_ENST00000406091.3_Missense_Mutation_p.P881H	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	943	PDZ.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.P673H(2)|p.P881H(1)|p.P948H(1)|p.P659H(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CTTCCCCACCCTTCTCCATAT	0.373000										HNSCC(12;0.0054)			19	20					2.21704e-12	2.92335e-12	0.016522	1	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		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	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			6	12					0.000157383	0.000168302	0.038147	1	0
APOBEC3F	200316	broad.mit.edu	37	22	39445556	39445556	+	Silent	SNP	C	C	G	rs34578066	by1000genomes	TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr22:39445556C>G	ENST00000308521.5	+	5	1050	c.693C>G	c.(691-693)gtC>gtG	p.V231V	APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	233					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	p.V231V(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					ACTCACCTGTCTCCTGGAAGA	0.463000													30	185					0	0	0.059317	0	0
KLB	152831	broad.mit.edu	37	4	39408690	39408690	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr4:39408690C>A	ENST00000257408.4	+	1	218	c.121C>A	c.(121-123)Ctg>Atg	p.L41M		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	41					carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.L41K(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						ATCTGTCATCCTGTCAGCACT	0.413000													26	84					3.65163e-15	5.02239e-15	0.030593	1	0
METTL13	51603	broad.mit.edu	37	1	171755174	171755174	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:171755174A>G	ENST00000361735.3	+	3	1335	c.1069A>G	c.(1069-1071)Aga>Gga	p.R357G	METTL13_ENST00000458517.1_Missense_Mutation_p.R356G|METTL13_ENST00000367737.5_Missense_Mutation_p.R201G|METTL13_ENST00000362019.3_Missense_Mutation_p.R271G	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	357							methyltransferase activity|protein binding	p.R357G(1)		breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GCTGTCGGCTAGAGTCATGGA	0.572000													5	75					0	0	0.038147	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140793377	140793377	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr5:140793377A>G	ENST00000398610.2	+	1	635	c.635A>G	c.(634-636)cAc>cGc	p.H212R	PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1												p.H212R(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGCCATTCACCACCTGGTC	0.582000													30	65					0	0	0.050027	0	0
MED25	81857	broad.mit.edu	37	19	50334694	50334694	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr19:50334694G>T	ENST00000312865.6	+	10	1259	c.1206G>T	c.(1204-1206)tgG>tgT	p.W402C	MED25_ENST00000538643.1_Missense_Mutation_p.W189C	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	402	Interaction with CREBBP.|Interaction with VP16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm		p.W402C(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		TTCTGGCCTGGAGCGGGGTCC	0.687000													12	20					0.000308642	0.000329267	0.024245	1	0
PCNX	22990	broad.mit.edu	37	14	71514586	71514586	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr14:71514586C>G	ENST00000304743.2	+	22	4669	c.4223C>G	c.(4222-4224)cCt>cGt	p.P1408R	PCNX_ENST00000439984.3_Missense_Mutation_p.P1297R|PCNX_ENST00000238570.5_Missense_Mutation_p.P1408R	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1408						integral to membrane		p.P1408R(1)		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)		TTTAGCAGCCCTACATATCAG	0.383000													15	48					0	0	0.049695	0	0
DENND2A	27147	broad.mit.edu	37	7	140301877	140301877	+	Silent	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr7:140301877C>T	ENST00000275884.6	-	2	738	c.321G>A	c.(319-321)gaG>gaA	p.E107E	DENND2A_ENST00000492720.1_Silent_p.E107E|DENND2A_ENST00000537639.1_Silent_p.E107E|DENND2A_ENST00000496613.1_Silent_p.E107E			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	107								p.E107E(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TCCTCTCCTTCTCTGTGCTCT	0.577000													157	153					0	0	0.048971	0	0
ARMC3	219681	broad.mit.edu	37	10	23270392	23270392	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr10:23270392C>A	ENST00000298032.5	+	9	1124	c.1040C>A	c.(1039-1041)tCa>tAa	p.S347*	ARMC3_ENST00000376528.4_Nonsense_Mutation_p.S84*|ARMC3_ENST00000409049.3_Nonsense_Mutation_p.S347*|ARMC3_ENST00000409983.3_Nonsense_Mutation_p.S347*	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	347							binding	p.S347*(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGTGAGAATTCAGGCAGCAAA	0.373000													19	42					7.45023e-12	9.73757e-12	0.055883	1	0
HKR1	284459	broad.mit.edu	37	19	37853356	37853356	+	Missense_Mutation	SNP	G	G	T	rs143859791		TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr19:37853356G>T	ENST00000324411.4	+	6	928	c.659G>T	c.(658-660)aGc>aTc	p.S220I	HKR1_ENST00000392153.3_Missense_Mutation_p.S201I|HKR1_ENST00000591471.1_5'UTR|HKR1_ENST00000541583.2_Missense_Mutation_p.S159I|HKR1_ENST00000589392.1_Missense_Mutation_p.S202I|HKR1_ENST00000544914.1_5'UTR|HKR1_ENST00000591134.1_Intron	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	220					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S220I(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATAGGGTCCAGCCCTGAACGG	0.473000													48	97					1.05386e-31	1.71925e-31	0.048971	1	0
ZNF780B	163131	broad.mit.edu	37	19	40541960	40541960	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr19:40541960C>A	ENST00000434248.1	-	5	871	c.806G>T	c.(805-807)aGt>aTt	p.S269I	ZNF780B_ENST00000221355.6_Missense_Mutation_p.S121I	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S269I(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AGCATGAATACTTTGATGCTG	0.358000													14	60					1.3612e-06	1.54431e-06	0.024245	1	0
RHBDL1	9028	broad.mit.edu	37	16	727062	727062	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr16:727062A>C	ENST00000219551.2	+	3	740	c.713A>C	c.(712-714)cAc>cCc	p.H238P	RHBDL1_ENST00000352681.3_Missense_Mutation_p.H173P			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	238					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity	p.H238P(1)		endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				CTTGTGTACCACCCCGGGCAC	0.637000													4	111					0	0	0.020292	0	0
NELL1	4745	broad.mit.edu	37	11	20982079	20982079	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr11:20982079G>A	ENST00000298925.5	+	13	1510	c.1357G>A	c.(1357-1359)Gtc>Atc	p.V453I	NELL1_ENST00000325319.5_Missense_Mutation_p.V368I|NELL1_ENST00000532434.1_Missense_Mutation_p.V425I|NELL1_ENST00000357134.5_Missense_Mutation_p.V425I			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	425	EGF-like 2; calcium-binding (Potential).				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.V425I(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TTACATCTCTGTCCAGGGAGA	0.413000													34	93					0	0	0.021022	0	0
PLEK	5341	broad.mit.edu	37	2	68607985	68607985	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr2:68607985C>A	ENST00000234313.7	+	3	508	c.329C>A	c.(328-330)gCc>gAc	p.A110D		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	110					actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	p.A110D(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		CAGAAATTTGCCAGGAAATCT	0.473000													90	202					4.98208e-43	8.49996e-43	0.048971	1	0
TUBB8P7	197331	broad.mit.edu	37	16	90160967	90160967	+	RNA	SNP	T	T	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr16:90160967T>A	ENST00000567960.1	+	0	197				TUBB8P7_ENST00000564451.1_RNA														p.V66E(1)									GCTGTGCTCGTGGATCTGGAG	0.701000													24	174					0	0	0.039052	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073279	17073279	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr22:17073279G>T	ENST00000359963.3	-	1	421	c.162C>A	c.(160-162)caC>caA	p.H54Q		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	54					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.H54Q(1)		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)				TCTGCCGGCCGTGGGGGCCAT	0.637000													23	59					2.48779e-11	3.15027e-11	0.027356	1	0
LILRA2	11027	broad.mit.edu	37	19	55086877	55086877	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr19:55086877G>T	ENST00000251377.3	+	6	943	c.810G>T	c.(808-810)caG>caT	p.Q270H	LILRA2_ENST00000251376.3_Missense_Mutation_p.Q270H|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.Q270H|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.Q258H					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2									p.Q270H(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CTGGTTGGCAGCCCCAGGCTG	0.617000													56	107					2.12129e-23	3.22522e-23	0.048971	1	0
CRNKL1	51340	broad.mit.edu	37	20	20031146	20031146	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr20:20031146C>A	ENST00000377340.2	-	3	686	c.655G>T	c.(655-657)Gaa>Taa	p.E219*	CRNKL1_ENST00000377327.4_Nonsense_Mutation_p.E207*|CRNKL1_ENST00000536226.1_Nonsense_Mutation_p.E58*	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	219					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	p.E219*(1)		breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TCATTTAATTCTTCTTCATCT	0.388000													28	72					9.39395e-14	1.26861e-13	0.030593	1	0
HAL	3034	broad.mit.edu	37	12	96374622	96374622	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr12:96374622C>A	ENST00000261208.3	-	16	1675	c.1307G>T	c.(1306-1308)gGa>gTa	p.G436V	HAL_ENST00000541929.1_Missense_Mutation_p.G228V|HAL_ENST00000538703.1_Missense_Mutation_p.G436V	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	436					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	p.G436V(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	AACTGTCTCTCCCCTATTGGC	0.423000													37	114					3.54909e-21	5.30583e-21	0.042209	1	0
HNF4A	3172	broad.mit.edu	37	20	43048493	43048493	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr20:43048493A>C	ENST00000316099.3	+	7	958	c.869A>C	c.(868-870)aAa>aCa	p.K290T	HNF4A_ENST00000443598.2_Missense_Mutation_p.K290T|HNF4A_ENST00000457232.1_Missense_Mutation_p.K268T|HNF4A_ENST00000415691.1_Missense_Mutation_p.K290T	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	290					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.K290T(2)|p.K268T(1)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCCTACCTCAAAGCCATCATC	0.547000													45	147					0	0	0.048971	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29446938	29446938	+	Splice_Site	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr18:29446938C>A	ENST00000283351.4	-	18	2799	c.2463_splice	c.e18-1	p.A822_splice	TRAPPC8_ENST00000582539.1_Splice_Site_p.A768_splice	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	822					ER to Golgi vesicle-mediated transport	cis-Golgi network		p.A822S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTTAGTCTTGCCTGTGGAGAT	0.358000													15	20					2.23348e-06	2.50846e-06	0.028581	1	0
CCL23	6368	broad.mit.edu	37	17	34340789	34340789	+	Silent	SNP	A	A	C			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr17:34340789A>C	ENST00000293280.2	-	3	367	c.297T>G	c.(295-297)ggT>ggG	p.G99G	CCL23_ENST00000591423.1_Silent_p.G82G	NM_005064.3	NP_005055.2	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	82					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding	p.G99G(1)		large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Treprostinil(DB00374)	CCTACATGACACCCGGCTTGG	0.542000													15	60					0	0	0.033300	0	0
DAG1	1605	broad.mit.edu	37	3	49569641	49569641	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr3:49569641A>G	ENST00000545947.1	+	6	2419	c.1697A>G	c.(1696-1698)gAc>gGc	p.D566G	DAG1_ENST00000308775.2_Missense_Mutation_p.D566G|DAG1_ENST00000541308.1_Missense_Mutation_p.D566G|DAG1_ENST00000539901.1_Missense_Mutation_p.D566G|DAG1_ENST00000538711.1_Missense_Mutation_p.D566G|DAG1_ENST00000515359.2_Missense_Mutation_p.D566G	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	566	Peptidase S72.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding	p.D566G(1)		NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GGCCTTCCCGACAGCAGCCAC	0.597000													13	56					0	0	0.028581	0	0
MTSS1L	92154	broad.mit.edu	37	16	70712199	70712199	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr16:70712199G>A	ENST00000338779.6	-	8	854	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W		NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	194	IMD.				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding	p.R194W(1)		breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						AAGCGGCCCCGCTCCTCGATC	0.672000													17	193					0	0	0.014323	0	0
SLC44A4	80736	broad.mit.edu	37	6	31843659	31843659	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr6:31843659G>A	ENST00000229729.6	-	4	232	c.212C>T	c.(211-213)aCt>aTt	p.T71I	SLC44A4_ENST00000544672.1_5'UTR|SLC44A4_ENST00000465707.1_5'UTR|SLC44A4_ENST00000375562.4_Missense_Mutation_p.T71I	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	71						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.T71I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GTAGGCCCCAGTAGAGTTCCT	0.602000													143	296					0	0	0.048971	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12908093	12908093	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:12908093C>A	ENST00000317869.6	-	2	275	c.50G>T	c.(49-51)cGt>cTt	p.R17L		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1									p.R17L(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						AATGAACACACGGGAGTTCAT	0.468000													16	174					1.67942e-08	2.0126e-08	0.038395	1	0
CCT8L2	150160	broad.mit.edu	37	22	17073380	17073380	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr22:17073380C>T	ENST00000359963.3	-	1	320	c.61G>A	c.(61-63)Gag>Aag	p.E21K		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	21					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.E21K(1)		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)				CTCGGGCTCTCCCTTGGGTTC	0.657000													16	49					0	0	0.055883	0	0
ALPK1	80216	broad.mit.edu	37	4	113356422	113356422	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr4:113356422G>T	ENST00000458497.1	+	12	3432	c.3153G>T	c.(3151-3153)tgG>tgT	p.W1051C	ALPK1_ENST00000177648.9_Missense_Mutation_p.W1051C|ALPK1_ENST00000504176.2_Missense_Mutation_p.W973C	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1051	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity	p.W1051C(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		ATGCTTTTTGGGTTCATCATC	0.358000													76	142					4.97629e-18	7.10671e-18	0.048971	1	0
RPSAP58	388524	broad.mit.edu	37	19	24010315	24010315	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr19:24010315G>A	ENST00000496398.1	+	4	775	c.352G>A	c.(352-354)Gag>Aag	p.E118K	RP11-255H23.4_ENST00000599944.1_lincRNA|RP11-255H23.2_ENST00000471224.1_RNA|RPSAP58_ENST00000354585.4_Missense_Mutation_p.E118K														p.E118K(2)		endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						AGCCTTCTGGGAGCCACGGCT	0.562000													8	48					0	0	0.024245	0	0
CCT2	10576	broad.mit.edu	37	12	69983267	69983267	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr12:69983267C>T	ENST00000543146.2	+	7	790	c.308C>T	c.(307-309)tCc>tTc	p.S103F	CCT2_ENST00000299300.6_Missense_Mutation_p.S150F|CCT2_ENST00000544368.2_Missense_Mutation_p.S150F	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	150					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	p.S150F(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTATTTAGTTCCGATGAAGTT	0.299000													5	39					0	0	0.014758	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034721	52034721	+	Silent	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr19:52034721C>A	ENST00000346477.3	-	2	188	c.120G>T	c.(118-120)acG>acT	p.T40T	SIGLEC6_ENST00000391797.3_Silent_p.T40T|SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000343300.4_Silent_p.T40T|SIGLEC6_ENST00000359982.4_Silent_p.T40T|SIGLEC6_ENST00000425629.3_Silent_p.T40T	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	40	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		p.T29T(1)|p.T40T(1)		endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CCTCCTGCACCGTCAGTGACT	0.627000													11	85					5.50884e-06	6.14077e-06	0.013537	1	0
KPRP	448834	broad.mit.edu	37	1	152733141	152733141	+	Silent	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:152733141G>A	ENST00000368773.1	+	2	1135	c.1077G>A	c.(1075-1077)ccG>ccA	p.P359P	KPRP_ENST00000606109.1_Silent_p.P359P	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	359	Pro-rich.					cytoplasm		p.P359P(2)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGCCCGCAGCCCTCCT	0.647000													4	147					0	0	0.009096	0	0
DDX11	1663	broad.mit.edu	37	12	31249591	31249591	+	Silent	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr12:31249591G>T	ENST00000407793.2	+	16	1793	c.1542G>T	c.(1540-1542)cgG>cgT	p.R514R	DDX11_ENST00000228264.6_Silent_p.R488R|DDX11_ENST00000539673.1_3'UTR|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Silent_p.R514R|DDX11_ENST00000542838.1_Silent_p.R514R|DDX11_ENST00000545668.1_Silent_p.R514R	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	514					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	p.Y515N(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TCACTGAACGGTACGGAGCAG	0.592000										Multiple Myeloma(12;0.14)			21	75					1.9806e-07	2.29955e-07	0.014323	1	0
ZNF460	10794	broad.mit.edu	37	19	57802481	57802481	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr19:57802481C>T	ENST00000360338.3	+	3	894	c.572C>T	c.(571-573)cCt>cTt	p.P191L	ZNF460_ENST00000537645.1_Missense_Mutation_p.P150L	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P191L(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAGATTCTCCCTCGTGTGAAG	0.448000													59	126					0	0	0.048971	0	0
DCST2	127579	broad.mit.edu	37	1	155002563	155002563	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:155002563G>A	ENST00000368424.3	-	7	1232	c.1174C>T	c.(1174-1176)Ccg>Tcg	p.P392S	DCST2_ENST00000295536.5_Missense_Mutation_p.P392S	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	392						integral to membrane		p.P392S(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCCTCACCCGGTGGGATGTAG	0.697000													21	197					0	0	0.014323	0	0
CROCC	9696	broad.mit.edu	37	1	17257855	17257855	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:17257855C>T	ENST00000375541.5	+	8	988	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	307					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	p.R307W(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGTGGGGTTCCGGCGGCTGGT	0.622000													22	103					0	0	0.034045	0	0
THBS4	7060	broad.mit.edu	37	5	79375018	79375018	+	Silent	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr5:79375018G>A	ENST00000350881.2	+	19	2638	c.2448G>A	c.(2446-2448)acG>acA	p.T816T	THBS4_ENST00000511733.1_Silent_p.T725T|THBS4_ENST00000504720.1_3'UTR|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	816	TSP C-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	p.T816T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GGAAGCAGACGGAGCAGACAT	0.488000													10	66					0	0	0.020292	0	0
BRAF	673	broad.mit.edu	37	7	140434413	140434413	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr7:140434413G>T	ENST00000288602.6	-	18	2345	c.2285C>A	c.(2284-2286)gCg>gAg	p.A762E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	762					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.A762E(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GACAGGAAACGCACCATATCC	0.403000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				183	189					2.13639e-87	3.78956e-87	0.048971	1	0
PLEKHN1	84069	broad.mit.edu	37	1	905907	905907	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:905907A>T	ENST00000379409.2	+	4	367	c.337A>T	c.(337-339)Agc>Tgc	p.S113C	PLEKHN1_ENST00000379410.3_Missense_Mutation_p.S113C|PLEKHN1_ENST00000379407.2_Missense_Mutation_p.S113C			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	113	PH 1.							p.S113C(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GCAGGATGTCAGCGACTGCTA	0.672000													29	54					0	0	0.041601	0	0
ABCC2	1244	broad.mit.edu	37	10	101606844	101606844	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr10:101606844G>T	ENST00000370449.4	+	30	4386	c.4273G>T	c.(4273-4275)Ggg>Tgg	p.G1425W		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1425	ABC transporter 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.G1425W(1)		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)	CCTGCAACTTGGGTTATCCCA	0.537000													71	143					1.68136e-41	2.83611e-41	0.048971	1	0
APOB	338	broad.mit.edu	37	2	21233375	21233375	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr2:21233375G>T	ENST00000233242.1	-	26	6492	c.6365C>A	c.(6364-6366)gCt>gAt	p.A2122D		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2122	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.A2122D(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATAATCATTAGCTTGCTGTGG	0.368000													20	22					2.89027e-11	3.64958e-11	0.014323	1	0
SDE2	163859	broad.mit.edu	37	1	226183030	226183030	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:226183030T>C	ENST00000272091.7	-	2	193	c.175A>G	c.(175-177)Agt>Ggt	p.S59G	SDE2_ENST00000366817.1_Silent_p.P7P	NM_152608.3	NP_689821.3			SDE2 telomere maintenance homolog (S. pombe)									p.S59G(1)									ACTGTGTCACTGGTGTTAATG	0.383000													21	220					0	0	0.049695	0	0
NEFM	4741	broad.mit.edu	37	8	24771756	24771756	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr8:24771756C>A	ENST00000221166.5	+	1	1232	c.450C>A	c.(448-450)taC>taA	p.Y150*	NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Nonsense_Mutation_p.Y150*|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000518131.1_Nonsense_Mutation_p.Y150*			P07197	NFM_HUMAN	neurofilament, medium polypeptide	150	Coil 1B.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton	p.Y150*(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GCGACGCGTACGACCAGGAGA	0.637000													7	18					0.0477658	0.0487472	0.047766	1	0
TLR8	51311	broad.mit.edu	37	X	12938519	12938519	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chrX:12938519C>T	ENST00000218032.6	+	2	1447	c.1360C>T	c.(1360-1362)Cga>Tga	p.R454*	TLR8_ENST00000311912.5_Nonsense_Mutation_p.R472*	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	454					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	p.R472*(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TATCCGGAAACGACGCTCAAC	0.388000													39	28					0	0	0.039052	0	0
FHDC1	85462	broad.mit.edu	37	4	153864685	153864685	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr4:153864685C>T	ENST00000511601.1	+	2	664	c.476C>T	c.(475-477)tCc>tTc	p.S159F	FHDC1_ENST00000260008.3_Missense_Mutation_p.S159F			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	159	FH2.				actin cytoskeleton organization		actin binding	p.S159F(1)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					TTAAATTCATCCTTCAGAGAA	0.438000													21	93					0	0	0.055883	0	0
IGKV6D-41	28869	broad.mit.edu	37	2	90108952	90108952	+	RNA	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr2:90108952C>A	ENST00000390271.2	+	0	243																											GTATGCTTCCCAGTCCATCTC	0.517000													33	93					4.65686e-17	6.60831e-17	0.064281	1	0
CFI	3426	broad.mit.edu	37	4	110687980	110687980	+	Splice_Site	SNP	C	C	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr4:110687980C>G	ENST00000394634.2	-	2	265	c.57_splice	c.e2-1	p.V20_splice	CFI_ENST00000510800.1_Splice_Site_p.V20_splice|CFI_ENST00000512148.1_Splice_Site_p.V20_splice|CFI_ENST00000394635.3_Splice_Site_p.V20_splice	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	20					complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity	p.V20L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		GTATAAGTGACCTGTAAAATG	0.388000													8	55					0	0	0.058154	0	0
NSD1	64324	broad.mit.edu	37	5	176665401	176665401	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr5:176665401G>C	ENST00000439151.2	+	7	4130	c.4085G>C	c.(4084-4086)gGa>gCa	p.G1362A	NSD1_ENST00000361032.4_Missense_Mutation_p.G1259A|NSD1_ENST00000354179.4_Missense_Mutation_p.G1093A|NSD1_ENST00000347982.4_Missense_Mutation_p.G1093A	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1362					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	p.G1362A(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		TCAGAACTTGGAGGTGGACAT	0.532000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			3	148					0	0	0.004672	0	0
FBXO38	81545	broad.mit.edu	37	5	147796641	147796641	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr5:147796641G>T	ENST00000340253.5	+	12	1660	c.1492G>T	c.(1492-1494)Gat>Tat	p.D498Y	FBXO38_ENST00000296701.6_Missense_Mutation_p.D498Y|FBXO38_ENST00000394370.3_Missense_Mutation_p.D498Y|FBXO38_ENST00000513826.1_Missense_Mutation_p.D498Y			Q6PIJ6	FBX38_HUMAN	F-box protein 38	498				D -> E (in Ref. 1; AAH33454).		cytoplasm|nucleus		p.D498Y(1)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACAATGACGATAATAATGC	0.463000													8	25					3.09899e-07	3.55191e-07	0.047766	1	0
ASTN2	23245	broad.mit.edu	37	9	119770520	119770520	+	Translation_Start_Site	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr9:119770520C>T	ENST00000361477.3	-	0	1389				ASTN2_ENST00000313400.4_Missense_Mutation_p.S481N|ASTN2_ENST00000361209.2_Missense_Mutation_p.S430N|ASTN2_ENST00000373996.3_Missense_Mutation_p.S481N			O75129	ASTN2_HUMAN	astrotactin 2							integral to membrane		p.S430N(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCTCCCTTCACTCACCACGAA	0.498000													12	57					0	0	0.016723	0	0
ARMC9	80210	broad.mit.edu	37	2	232141472	232141472	+	Silent	SNP	C	C	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr2:232141472C>G	ENST00000349938.4	+	15	1652	c.1458C>G	c.(1456-1458)ctC>ctG	p.L486L	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	486							binding	p.L486L(2)		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)		TCATGAACCTCTGCCTCCGCA	0.537000													12	144					0	0	0.024245	0	0
KCNC2	3747	broad.mit.edu	37	12	75442064	75442064	+	Missense_Mutation	SNP	G	G	A	rs142936560	byFrequency	TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr12:75442064G>A	ENST00000549446.1	-	4	2329	c.1649C>T	c.(1648-1650)cCg>cTg	p.P550L	KCNC2_ENST00000550433.1_Missense_Mutation_p.P550L|KCNC2_ENST00000350228.2_Intron|KCNC2_ENST00000298972.1_Missense_Mutation_p.P550L|KCNC2_ENST00000341669.3_Missense_Mutation_p.P550L|KCNC2_ENST00000548243.1_Intron|KCNC2_ENST00000548513.1_Missense_Mutation_p.P550L|KCNC2_ENST00000540018.1_Intron|KCNC2_ENST00000393288.2_Missense_Mutation_p.P550L	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	550					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.P550L(3)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						TGATAGTGGCGGCTCACTTCC	0.483000													9	45					0	0	0.058154	0	0
COL6A2	1292	broad.mit.edu	37	21	47542430	47542430	+	Silent	SNP	C	C	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr21:47542430C>G	ENST00000300527.4	+	20	1697	c.1593C>G	c.(1591-1593)ggC>ggG	p.G531G	COL6A2_ENST00000409416.1_Silent_p.G531G|COL6A2_ENST00000357838.4_Silent_p.G531G|COL6A2_ENST00000397763.1_Silent_p.G531G|COL6A2_ENST00000310645.5_Silent_p.G531G	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	531	Triple-helical region.		G -> R (in UCMD).		axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	p.G531G(3)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GCGAGCCCGGCCCACGCGGCC	0.637000													8	101					0	0	0.058154	0	0
RBM48	84060	broad.mit.edu	37	7	92164123	92164123	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr7:92164123A>G	ENST00000481551.1	+	4	897	c.856A>G	c.(856-858)Aga>Gga	p.R286G	RBM48_ENST00000265732.5_Missense_Mutation_p.R286G			Q5RL73	CG064_HUMAN	RNA binding motif protein 48	286							nucleotide binding	p.R286G(1)									GGAGCGCAAAAGAAGAAGAGA	0.428000													15	19					0	0	0.028581	0	0
ASIC4	55515	broad.mit.edu	37	2	220379514	220379514	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr2:220379514C>A	ENST00000358078.4	+	1	463	c.449C>A	c.(448-450)gCa>gAa	p.A150E	ASIC4_ENST00000347842.3_Missense_Mutation_p.A150E|AC053503.11_ENST00000429882.1_RNA			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	150						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	p.A150E(1)									GAGAAGGAGGCAGGGGATGAG	0.632000													50	154					9.55421e-19	1.39566e-18	0.048971	1	0
MPDZ	8777	broad.mit.edu	37	9	13188859	13188859	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr9:13188859C>A	ENST00000319217.7	-	17	2535	c.2288G>T	c.(2287-2289)aGt>aTt	p.S763I	MPDZ_ENST00000381015.4_Missense_Mutation_p.S763I|MPDZ_ENST00000536827.1_Missense_Mutation_p.S763I|MPDZ_ENST00000381022.2_Missense_Mutation_p.S763I|MPDZ_ENST00000546205.1_Missense_Mutation_p.S763I|MPDZ_ENST00000541718.1_Missense_Mutation_p.S763I|MPDZ_ENST00000447879.1_Missense_Mutation_p.S763I	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	763	PDZ 5.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	p.S763I(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TTCCTCAAGACTGCTGTTTTC	0.463000													67	205					1.31311e-47	2.26625e-47	0.048971	1	0
PSAP	5660	broad.mit.edu	37	10	73579275	73579275	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr10:73579275G>T	ENST00000394936.3	-	11	1444	c.1297C>A	c.(1297-1299)Ctg>Atg	p.L433M	PSAP_ENST00000394934.1_Missense_Mutation_p.L435M			P07602	SAP_HUMAN	prosaposin	433	Saposin B-type 4.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding	p.L433M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						AGAGCAGCCAGGATCTCCTGC	0.577000													30	84					2.48696e-23	3.76837e-23	0.059317	1	0
ETS2	2114	broad.mit.edu	37	21	40191577	40191577	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr21:40191577C>T	ENST00000360214.3	+	9	1422	c.962C>T	c.(961-963)tCt>tTt	p.S321F	ETS2_ENST00000360938.3_Missense_Mutation_p.S321F	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	321					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	p.S321F(2)		NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TGCAGCCAGTCTCTCTGCCTC	0.532000													8	29					0	0	0.008291	0	0
CMTM5	116173	broad.mit.edu	37	14	23847613	23847613	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr14:23847613C>A	ENST00000359320.3	+	2	626	c.182C>A	c.(181-183)gCc>gAc	p.A61D	CMTM5_ENST00000397227.3_Intron|CMTM5_ENST00000382809.2_Missense_Mutation_p.A61D|CMTM5_ENST00000555731.1_Intron|CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000339180.4_Missense_Mutation_p.A61D	NM_138460.2	NP_612469.1	Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	61	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity	p.A61D(2)		endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		GCCTACATGGCCGCGGCGCTA	0.572000													82	137					1.15773e-35	1.93099e-35	0.048971	1	0
COL12A1	1303	broad.mit.edu	37	6	75844451	75844451	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr6:75844451C>A	ENST00000322507.8	-	32	5824	c.5515G>T	c.(5515-5517)Ggc>Tgc	p.G1839C	COL12A1_ENST00000345356.6_Missense_Mutation_p.G675C|COL12A1_ENST00000483888.2_Missense_Mutation_p.G1839C|COL12A1_ENST00000416123.2_Missense_Mutation_p.G1839C	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1839	Fibronectin type-III 13.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.G1839C(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTGGTCTTGCCTCTTCCCGTC	0.453000													33	59					1.62565e-12	2.14989e-12	0.050027	1	0
LILRB2	10288	broad.mit.edu	37	19	54782754	54782754	+	Missense_Mutation	SNP	A	A	G	rs143661416	byFrequency	TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr19:54782754A>G	ENST00000391748.1	-	6	995	c.868T>C	c.(868-870)Tac>Cac	p.Y290H	LILRB2_ENST00000391746.1_Missense_Mutation_p.Y290H|LILRB2_ENST00000391749.4_Missense_Mutation_p.Y290H|LILRB2_ENST00000434421.1_Missense_Mutation_p.Y174H|LILRB2_ENST00000314446.5_Missense_Mutation_p.Y290H	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	290	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.Y290H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGCCCCCGTAGGAGCGGCTC	0.667000													26	39					0	0	0.021022	0	0
DSCAML1	57453	broad.mit.edu	37	11	117395563	117395563	+	Silent	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr11:117395563G>A	ENST00000321322.6	-	5	1075	c.1074C>T	c.(1072-1074)aaC>aaT	p.N358N	DSCAML1_ENST00000527706.1_Silent_p.N88N	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	298	Ig-like C2-type 4.				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	p.N358N(1)		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)		AACCGAAGGTGTTGGTGACCT	0.632000													4	21					0	0	0.021553	0	0
RMDN1	51115	broad.mit.edu	37	8	87498776	87498776	+	Nonsense_Mutation	SNP	A	A	T	rs144513651		TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr8:87498776A>T	ENST00000406452.3	-	4	591	c.432T>A	c.(430-432)taT>taA	p.Y144*	RMDN1_ENST00000430676.2_Nonsense_Mutation_p.Y144*|RMDN1_ENST00000519966.1_Nonsense_Mutation_p.Y144*|RMDN1_ENST00000523911.1_Nonsense_Mutation_p.Y100*|CPNE3_ENST00000198765.4_Intron	NM_016033.2	NP_057117.2			regulator of microtubule dynamics 1									p.Y144*(1)									CTAGGGCTTCATACACCAATA	0.413000													27	36					0	0	0.037714	0	0
PFKFB4	5210	broad.mit.edu	37	3	48573763	48573763	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr3:48573763G>A	ENST00000232375.3	-	8	878	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W	PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000541519.1_Missense_Mutation_p.R222W|PFKFB4_ENST00000536104.1_Missense_Mutation_p.R245W|PFKFB4_ENST00000416568.1_Missense_Mutation_p.R256W|PFKFB4_ENST00000383734.2_Missense_Mutation_p.R256W	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	256	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	p.R256R(1)|p.R256W(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TCCCCGTGCCGGCAGAGGTAG	0.637000													4	291					0	0	0.009096	0	0
RYR2	6262	broad.mit.edu	37	1	237713886	237713886	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:237713886C>T	ENST00000366574.2	+	27	3426	c.3109C>T	c.(3109-3111)Ctt>Ttt	p.L1037F	RYR2_ENST00000542537.1_Missense_Mutation_p.L1021F|RYR2_ENST00000360064.6_Missense_Mutation_p.L1035F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1037	4 X approximate repeats.|B30.2/SPRY 2.			L -> P (in Ref. 1; CAA66975 and 2; CAC18855).	cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.L1035F(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCCCTACACTCTTCTGGATGA	0.512000													15	12					0	0	0.024245	0	0
ZNF320	162967	broad.mit.edu	37	19	53384141	53384141	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr19:53384141T>C	ENST00000595635.1	-	8	1739	c.1238A>G	c.(1237-1239)tAc>tGc	p.Y413C	ZNF320_ENST00000391781.2_Missense_Mutation_p.Y413C|ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y413C(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TTCACATTCGTAAAGTTTCTC	0.393000													24	48					0	0	0.059317	0	0
LPHN2	23266	broad.mit.edu	37	1	82409048	82409048	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:82409048G>C	ENST00000370728.1	+	8	1438	c.793G>C	c.(793-795)Gac>Cac	p.D265H	LPHN2_ENST00000370713.1_Missense_Mutation_p.D265H|LPHN2_ENST00000271029.4_Missense_Mutation_p.D265H|LPHN2_ENST00000370727.1_Missense_Mutation_p.D265H|LPHN2_ENST00000335786.5_Missense_Mutation_p.D265H|LPHN2_ENST00000370730.1_Missense_Mutation_p.D265H|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.D265H|LPHN2_ENST00000370715.1_Missense_Mutation_p.D265H|LPHN2_ENST00000370725.1_Missense_Mutation_p.D265H|LPHN2_ENST00000370717.2_Missense_Mutation_p.D265H|LPHN2_ENST00000370721.1_Missense_Mutation_p.D269H|LPHN2_ENST00000370723.1_Missense_Mutation_p.D265H|LPHN2_ENST00000359929.3_Missense_Mutation_p.D265H|LPHN2_ENST00000319517.6_Missense_Mutation_p.D265H			O95490	LPHN2_HUMAN	latrophilin 2	265	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.D265H(2)		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)		GACTGATATCGACCTAGCAGT	0.408000													21	39					0	0	0.018920	0	0
WDR37	22884	broad.mit.edu	37	10	1151165	1151165	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr10:1151165A>C	ENST00000358220.1	+	11	1205	c.1061A>C	c.(1060-1062)gAc>gCc	p.D354A	WDR37_ENST00000263150.4_Missense_Mutation_p.D354A			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	354								p.D354A(1)		breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		GATTTCAGGGACCCCTCCATC	0.567000													4	24					0	0	0.008291	0	0
SON	6651	broad.mit.edu	37	21	34923302	34923302	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr21:34923302G>T	ENST00000356577.4	+	3	2240	c.1765G>T	c.(1765-1767)Gtg>Ttg	p.V589L	SON_ENST00000300278.4_Missense_Mutation_p.V589L|SON_ENST00000381679.4_Missense_Mutation_p.V589L|SON_ENST00000290239.6_Missense_Mutation_p.V589L|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	589					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	p.V589L(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GGGGCAGCCTGTGGCAACTGG	0.662000													21	64					7.41877e-09	8.98697e-09	0.062417	1	0
PTPRD	5789	broad.mit.edu	37	9	8484300	8484300	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr9:8484300C>G	ENST00000381196.4	-	27	3775	c.3232G>C	c.(3232-3234)Gag>Cag	p.E1078Q	PTPRD_ENST00000360074.4_Missense_Mutation_p.E1065Q|PTPRD_ENST00000397606.3_Missense_Mutation_p.E657Q|PTPRD_ENST00000537002.1_Missense_Mutation_p.E664Q|PTPRD_ENST00000540109.1_Missense_Mutation_p.E1078Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.E667Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.E657Q|PTPRD_ENST00000355233.5_Missense_Mutation_p.E667Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.E664Q|PTPRD_ENST00000358503.5_Missense_Mutation_p.E1056Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.E1078Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1078	Fibronectin type-III 8.		E -> D (in dbSNP:rs7869444).		transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.E1078Q(2)|p.E667Q(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TATGATTTCTCAGGCTTCAGG	0.428000										TSP Lung(15;0.13)			3	65					0	0	0.004672	0	0
ITIH2	3698	broad.mit.edu	37	10	7759743	7759743	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr10:7759743C>T	ENST00000358415.4	+	6	788	c.622C>T	c.(622-624)Cac>Tac	p.H208Y	ITIH2_ENST00000379587.4_Missense_Mutation_p.H197Y|ITIH2_ENST00000480387.1_3'UTR	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	208					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.H208Y(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GCTGGCCAAACACTTAGAGGT	0.502000													69	191					0	0	0.048971	0	0
LRRN2	10446	broad.mit.edu	37	1	204588748	204588748	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:204588748C>G	ENST00000367175.1	-	1	2585	c.373G>C	c.(373-375)Gag>Cag	p.E125Q	LRRN2_ENST00000367176.3_Missense_Mutation_p.E125Q|LRRN2_ENST00000367177.3_Missense_Mutation_p.E125Q			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	125					cell adhesion	integral to membrane	receptor activity	p.E125Q(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TGGTTCTCCTCTAGGTGCAGG	0.602000													4	420					0	0	0.021553	0	0
LCN9	392399	broad.mit.edu	37	9	138556120	138556120	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr9:138556120G>T	ENST00000277526.3	+	2	209	c.209G>T	c.(208-210)aGc>aTc	p.S70I	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	70						extracellular region	pheromone binding|transporter activity	p.S70I(2)		kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		AAGAACGGCAGCCTAATATTT	0.473000													63	97					4.66136e-34	7.68867e-34	0.048971	1	0
UBE2J2	118424	broad.mit.edu	37	1	1192480	1192480	+	Silent	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:1192480C>A	ENST00000347370.2	-	5	623	c.150G>T	c.(148-150)ccG>ccT	p.P50P	UBE2J2_ENST00000339385.6_Silent_p.P67P|UBE2J2_ENST00000360466.2_Silent_p.P102P|UBE2J2_ENST00000400929.2_Silent_p.P50P|UBE2J2_ENST00000400930.4_Silent_p.P118P|UBE2J2_ENST00000349431.6_Silent_p.P102P|UBE2J2_ENST00000348298.7_Silent_p.P50P|UBE2J2_ENST00000491779.1_5'UTR	NM_194458.1	NP_919440.1	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2	102					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	p.P118P(1)		cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		TCCACGTGTCCGGGTGGAAAT	0.642000													63	145					2.37532e-16	3.34943e-16	0.048971	1	0
CES1P1	51716	broad.mit.edu	37	16	55806304	55806304	+	RNA	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr16:55806304G>A	ENST00000571348.1	+	0	606					NR_003276.2																						CACAGCCCGGGGAACTGGGGT	0.587000													15	12					0	0	0.049695	0	0
ATP6V0B	533	broad.mit.edu	37	1	44441472	44441472	+	Splice_Site	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:44441472G>T	ENST00000532642.1	+	2	165	c.67_splice	c.e2-1	p.G23_splice	ATP6V0B_ENST00000471859.2_Intron|ATP6V0B_ENST00000472174.2_Splice_Site_p.G23_splice|ATP6V0B_ENST00000472277.1_Intron|ATP6V0B_ENST00000236067.4_Intron			Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	23					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity	p.G23V(1)		breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				ACTGCTGCAGGAGTCTGCTAC	0.552000													150	349					1.46247e-67	2.56362e-67	0.048971	1	0
FAM27L	284123	broad.mit.edu	37	17	21825463	21825463	+	RNA	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr17:21825463C>A	ENST00000426869.3	+	0	167					NR_028336.1				family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		tacacaggaacgtctccggac	0.657000													26	72					2.48779e-11	3.15027e-11	0.027356	1	0
NALCN	259232	broad.mit.edu	37	13	101755543	101755543	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr13:101755543C>A	ENST00000251127.6	-	26	3118	c.3037G>T	c.(3037-3039)Ggc>Tgc	p.G1013C		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1013						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.G1013C(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCCTTGAAGCCGCTGAAAAGT	0.453000													38	108					8.69298e-16	1.20676e-15	0.027894	1	0
POP4	10775	broad.mit.edu	37	19	30102776	30102776	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr19:30102776C>G	ENST00000585603.1	+	4	2594	c.292C>G	c.(292-294)Ctt>Gtt	p.L98V	POP4_ENST00000221770.3_5'UTR|POP4_ENST00000591824.1_3'UTR|POP4_ENST00000392279.3_Missense_Mutation_p.L17V			O95707	RPP29_HUMAN	processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae)	98					mRNA cleavage|rRNA processing|tRNA processing	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease P activity|RNA binding	p.L98V(1)		breast(1)|endometrium(1)|lung(4)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			CAGATACAGCCTTTTCCTCCC	0.463000													47	130					0	0	0.048971	0	0
SV2C	22987	broad.mit.edu	37	5	75427939	75427939	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr5:75427939G>T	ENST00000502798.2	+	2	806	c.364G>T	c.(364-366)Gag>Tag	p.E122*	SV2C_ENST00000322285.7_Nonsense_Mutation_p.E122*	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	122					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.E122*(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GGACCGGCGGGAGCTGGAATC	0.547000													19	35					3.62473e-10	4.52585e-10	0.062417	1	0
PLGLA	285189	broad.mit.edu	37	2	107007489	107007489	+	RNA	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr2:107007489C>A	ENST00000484422.1	+	0	338																											AAGACTTTCCCTTTCATCTTT	0.458000													6	13					3.59834e-05	3.92306e-05	0.021553	1	0
PRKRIR	5612	broad.mit.edu	37	11	76063505	76063505	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr11:76063505C>A	ENST00000260045.3	-	5	794	c.689G>T	c.(688-690)tGt>tTt	p.C230F		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	230					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	p.C230F(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TGTTTTTGAACAAAACAACGT	0.438000													19	49					1.33986e-20	1.98976e-20	0.024334	1	0
YEATS2	55689	broad.mit.edu	37	3	183432964	183432964	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr3:183432964A>T	ENST00000305135.5	+	2	209	c.14A>T	c.(13-15)aAg>aTg	p.K5M		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	5					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	p.K5M(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCTGGAATCAAGCGAACCATC	0.378000													38	48					0	0	0.027894	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90576192	90576192	+	RNA	SNP	A	A	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr6:90576192A>G	ENST00000551025.1	+	0	4620							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	p.S1061S(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CAAAATTTTCATTAATACAAT	0.289000													3	1					0	0	0.004672	0	0
ADPRM	56985	broad.mit.edu	37	17	10608454	10608454	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr17:10608454C>T	ENST00000379774.4	+	2	302	c.211C>T	c.(211-213)Cag>Tag	p.Q71*	ADPRM_ENST00000527582.2_Nonsense_Mutation_p.Q71*	NM_020233.4	NP_064618.3			ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent									p.Q71*(1)									TTGTGTCCTTCAGCTTGGAGA	0.433000													35	68					0	0	0.039052	0	0
LINC00969	440993	broad.mit.edu	37	3	195391049	195391049	+	RNA	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr3:195391049C>A	ENST00000445430.1	+	0	575																											TTGGAAAGGGCAGGCAGGCCC	0.532000													4	178					0.00909568	0.0094115	0.009096	1	0
C1orf200	644997	broad.mit.edu	37	1	9713992	9713992	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:9713992G>A	ENST00000377320.3	-	2	498	c.349C>T	c.(349-351)Cgc>Tgc	p.R117C	PIK3CD_ENST00000377346.4_Intron|PIK3CD_ENST00000536656.1_Intron					chromosome 1 open reading frame 200									p.R117C(1)		endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)	9	all_lung(157;0.222)	Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.86e-08)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(185;0.000231)|KIRC - Kidney renal clear cell carcinoma(229;0.000879)|BRCA - Breast invasive adenocarcinoma(304;0.00178)|STAD - Stomach adenocarcinoma(132;0.00331)|READ - Rectum adenocarcinoma(331;0.0419)		Ggctgagagcggtagctcata	0.532000													15	26					0	0	0.028581	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28296491	28296491	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr21:28296491C>G	ENST00000284987.5	-	8	2795	c.2674G>C	c.(2674-2676)Gac>Cac	p.D892H	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	892	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.D892H(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CAACCTGTGTCACAGGTCCTA	0.542000													26	73					0	0	0.027356	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072351	17072351	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr22:17072351C>G	ENST00000359963.3	-	1	1349	c.1090G>C	c.(1090-1092)Gaa>Caa	p.E364Q		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	364					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.E364Q(1)		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)				CATTCCCATTCAAATACCACA	0.612000													38	116					0	0	0.027894	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176000	140176000	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr5:140176000C>A	ENST00000526136.1	+	1	1451	c.1451C>A	c.(1450-1452)gCg>gAg	p.A484E	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A484E|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A484E	NM_018905.2	NP_061728.1												p.A484E(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGCGGACGCGCAGGAGAAC	0.657000													34	99					1.21353e-23	1.85136e-23	0.048971	1	0
FZD10	11211	broad.mit.edu	37	12	130647553	130647553	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr12:130647553C>A	ENST00000229030.4	+	1	550	c.66C>A	c.(64-66)agC>agA	p.S22R	FZD10_ENST00000539839.1_5'UTR			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	22					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.S22R(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CCGCCATCAGCTCCATGGACA	0.667000													4	16					0.000602214	0.000640928	0.014758	1	0
DIP2B	57609	broad.mit.edu	37	12	51065097	51065097	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr12:51065097T>G	ENST00000301180.5	+	5	590	c.556T>G	c.(556-558)Tca>Gca	p.S186A		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	186	Ser-rich.					nucleus	catalytic activity|transcription factor binding	p.S186A(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GTCCACTTCTTCATCCGCATC	0.512000													37	82					0	0	0.023175	0	0
MARS2	92935	broad.mit.edu	37	2	198571112	198571112	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr2:198571112G>A	ENST00000282276.6	+	1	1026	c.983G>A	c.(982-984)gGc>gAc	p.G328D	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	328					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	p.G328D(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TTAGGGGCCGGCATGAGCCCG	0.542000													6	351					0	0	0.029380	0	0
HLCS	3141	broad.mit.edu	37	21	38137445	38137445	+	Silent	SNP	A	A	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr21:38137445A>G	ENST00000399120.1	-	9	2778	c.1548T>C	c.(1546-1548)ccT>ccC	p.P516P	HLCS_ENST00000336648.3_Silent_p.P516P	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	516					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	p.P516P(1)		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)	CACATCCCACAGGGCTCAGCC	0.577000													3	73					0	0	0.009096	0	0
MYO15A	51168	broad.mit.edu	37	17	18023558	18023558	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr17:18023558C>T	ENST00000205890.5	+	2	1782	c.1444C>T	c.(1444-1446)Cga>Tga	p.R482*		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	482	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	p.R482*(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCTCTTCCCGCGACCCCAGGT	0.632000													29	46					0	0	0.054565	0	0
SPECC1	92521	broad.mit.edu	37	17	20217341	20217341	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr17:20217341A>T	ENST00000395530.2	+	13	3135	c.2927A>T	c.(2926-2928)cAg>cTg	p.Q976L	SPECC1_ENST00000261503.5_Missense_Mutation_p.Q1057L|SPECC1_ENST00000536879.1_Missense_Mutation_p.Q397L|SPECC1_ENST00000395527.4_Missense_Mutation_p.Q1057L|AC004702.2_ENST00000580225.1_lincRNA	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	1057	CH.					nucleus		p.Q1057L(1)		breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AGTGTGATGCAGTACGTGGCC	0.572000													17	28					0	0	0.033300	0	0
ZNF208	7757	broad.mit.edu	37	19	22154366	22154366	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr19:22154366C>A	ENST00000397126.4	-	4	3618	c.3470G>T	c.(3469-3471)aGt>aTt	p.S1157I	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.S1029I(2)|p.S1157I(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTTATGATAACTAAGGGTTGA	0.358000													8	20					1.06961e-07	1.25162e-07	0.038147	1	0
FBXO27	126433	broad.mit.edu	37	19	39522510	39522510	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr19:39522510C>A	ENST00000292853.4	-	2	477	c.358G>T	c.(358-360)Ggc>Tgc	p.G120C	FBXO27_ENST00000600828.1_Missense_Mutation_p.G120C|FBXO27_ENST00000509137.2_Missense_Mutation_p.G120C	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	120	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding	p.G120C(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CCACCTTGGCCGCAGGGGTTG	0.701000													12	38					2.32078e-09	2.8344e-09	0.024245	1	0
CSMD3	114788	broad.mit.edu	37	8	113988072	113988072	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr8:113988072G>T	ENST00000297405.5	-	7	1580	c.1336C>A	c.(1336-1338)Cat>Aat	p.H446N	CSMD3_ENST00000352409.3_Missense_Mutation_p.H446N|CSMD3_ENST00000343508.3_Missense_Mutation_p.H406N|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	446						integral to membrane|plasma membrane		p.H446N(1)|p.H406N(1)		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						ATACCTCTATGAGTAACAACT	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			23	43					3.28513e-13	4.38344e-13	0.021523	1	0
TENM3	55714	broad.mit.edu	37	4	183676073	183676073	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr4:183676073A>C	ENST00000511685.1	+	22	4676	c.4553A>C	c.(4552-4554)gAt>gCt	p.D1518A	TENM3_ENST00000406950.2_Missense_Mutation_p.D1518A|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3									p.D1518A(1)									TCTCCAACTGATCAAGAACTC	0.378000													20	57					0	0	0.055883	0	0
PCDHGB7	56099	broad.mit.edu	37	5	140797646	140797646	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr5:140797646C>A	ENST00000398594.2	+	1	220	c.220C>A	c.(220-222)Cac>Aac	p.H74N	PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018927.3	NP_061750.1												p.H74Y(1)|p.H74N(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAAGCTGCACTTCAGCGT	0.562000													37	88					3.62531e-18	5.21065e-18	0.019004	1	0
TECTA	7007	broad.mit.edu	37	11	120996458	120996458	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr11:120996458G>A	ENST00000392793.1	+	8	1922	c.1651G>A	c.(1651-1653)Gtg>Atg	p.V551M	TECTA_ENST00000264037.2_Missense_Mutation_p.V551M			O75443	TECTA_HUMAN	tectorin alpha	551					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.V551M(1)	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)		GCACAGCTGCGTGTATGACCT	0.567000													80	197					0	0	0.048971	0	0
PAX7	5081	broad.mit.edu	37	1	19062359	19062359	+	Silent	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:19062359C>A	ENST00000420770.2	+	8	1472	c.1389C>A	c.(1387-1389)ggC>ggA	p.G463G	PAX7_ENST00000400661.3_Silent_p.G461G|PAX7_ENST00000375375.3_Silent_p.G463G	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	463					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G463G(2)	PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		ATCAGTACGGCCAGTACGGCC	0.657000			T	FOXO1A	alveolar rhabdomyosarcoma								13	68					1.33834e-09	1.64803e-09	0.043863	1	0
MIR3654	100500804	broad.mit.edu	37	11	62346199	62346199	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr11:62346199C>T	ENST00000496634.2	-	5	1039	c.994G>A	c.(994-996)Gag>Aag	p.E332K	TUT1_ENST00000308436.7_Missense_Mutation_p.E370K|TUT1_ENST00000476907.1_Missense_Mutation_p.E332K														p.E370K(1)|p.E332K(1)		NS(1)	1						GCTTTCTCCTCCTTTGGGGTC	0.617000													26	156					0	0	0.045705	0	0
HNRNPK	3190	broad.mit.edu	37	9	86593299	86593299	+	Translation_Start_Site	SNP	T	T	C			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr9:86593299T>C	ENST00000376263.3	-	0	185				HNRNPK_ENST00000351839.3_De_novo_Start_OutOfFrame|HNRNPK_ENST00000376264.2_De_novo_Start_OutOfFrame|HNRNPK_ENST00000360384.5_De_novo_Start_OutOfFrame|HNRNPK_ENST00000376281.4_De_novo_Start_OutOfFrame	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K						interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						AGTTATTATATATCCTTGCAG	0.383000													6	10					0	0	0.038147	0	0
MAP3K2	10746	broad.mit.edu	37	2	128088066	128088066	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr2:128088066T>C	ENST00000409947.1	-	6	562	c.280A>G	c.(280-282)Act>Gct	p.T94A	MAP3K2_ENST00000344908.5_Missense_Mutation_p.T94A			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	94	OPR.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding	p.T94A(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		TCTTGAGTAGTTAATGGAATT	0.378000													2	10					0	0	0.004672	0	0
ZMYM1	79830	broad.mit.edu	37	1	35579110	35579110	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:35579110A>T	ENST00000373330.1	+	11	1853	c.1679A>T	c.(1678-1680)aAt>aTt	p.N560I	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.N560I			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	560						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	p.N560I(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATAATTGAAAATATTTTATTT	0.318000													27	34					0	0	0.037714	0	0
OR4F15	390649	broad.mit.edu	37	15	102358761	102358761	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr15:102358761G>A	ENST00000332238.4	+	1	396	c.372G>A	c.(370-372)atG>atA	p.M124I		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M124I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			ACAGATACATGGCCATATGTA	0.468000													16	105					0	0	0.043863	0	0
GCNT1	2650	broad.mit.edu	37	9	79118029	79118029	+	Silent	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr9:79118029G>T	ENST00000442371.1	+	3	1671	c.732G>T	c.(730-732)acG>acT	p.T244T	GCNT1_ENST00000444201.2_Silent_p.T244T|GCNT1_ENST00000376730.4_Silent_p.T244T|GCNT1_ENST00000536223.1_Silent_p.T244T	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	244	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	p.T244T(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						ACCTGGAAACGGAGAGGATGC	0.418000													11	76					1.08611e-07	1.2676e-07	0.010729	1	0
MYEOV	26579	broad.mit.edu	37	11	69063518	69063518	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr11:69063518G>T	ENST00000535407.1	+	2	1070	c.427G>T	c.(427-429)Gtg>Ttg	p.V143L	MYEOV_ENST00000441339.2_Missense_Mutation_p.V201L|MYEOV_ENST00000308946.3_Missense_Mutation_p.V201L			Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	201								p.V201L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GCGAATGGATGTGGCTCTGCG	0.607000													74	156					1.37693e-34	2.27959e-34	0.048971	1	0
ZNF286A	57335	broad.mit.edu	37	17	15620368	15620368	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr17:15620368G>T	ENST00000464847.2	+	5	1883	c.1330G>T	c.(1330-1332)Ggg>Tgg	p.G444W	ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000593105.1_Missense_Mutation_p.G434W|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000583566.1_Missense_Mutation_p.G444W|ZNF286A_ENST00000413242.2_Missense_Mutation_p.G444W|ZNF286A_ENST00000421016.1_Missense_Mutation_p.G444W			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G444W(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		TAATGAATGTGGGAAAACCTT	0.393000													9	34					1.76689e-08	2.10614e-08	0.058154	1	0
ARID2	196528	broad.mit.edu	37	12	46245320	46245320	+	Silent	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr12:46245320G>T	ENST00000334344.6	+	15	3586	c.3414G>T	c.(3412-3414)ggG>ggT	p.G1138G	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Silent_p.G748G|ARID2_ENST00000422737.1_Silent_p.G989G	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1138					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.G1138G(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CACCCTCAGGGGGAGTACAAA	0.512000			"""N, S, F"""		hepatocellular carcinoma								41	108					2.37825e-27	3.74323e-27	0.039052	1	0
SAV1	60485	broad.mit.edu	37	14	51131974	51131974	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr14:51131974T>C	ENST00000324679.4	-	2	821	c.458A>G	c.(457-459)cAt>cGt	p.H153R		NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador homolog 1 (Drosophila)	153					hippo signaling cascade	cytoplasm|nucleus	identical protein binding	p.H153R(1)		breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					GTAGTCTTCATGTGCACGATC	0.383000													17	40					0	0	0.018920	0	0
TEAD1	7003	broad.mit.edu	37	11	12901386	12901386	+	Silent	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr11:12901386G>A	ENST00000361905.4	+	6	1082	c.417G>A	c.(415-417)ccG>ccA	p.P139P	TEAD1_ENST00000527575.1_Silent_p.P154P|TEAD1_ENST00000527636.1_Silent_p.P154P|TEAD1_ENST00000361985.2_Silent_p.P154P|TEAD1_ENST00000334310.6_Silent_p.P143P|TEAD1_ENST00000526600.1_Silent_p.P58P	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	154					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.P139P(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CAGGGGCGCCGGGGGTAAGTC	0.597000													17	142					0	0	0.055883	0	0
NIPAL2	79815	broad.mit.edu	37	8	99264759	99264759	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr8:99264759C>A	ENST00000341166.3	-	3	563	c.308G>T	c.(307-309)gGg>gTg	p.G103V	NIPAL2_ENST00000430223.2_Missense_Mutation_p.G103V	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	103						integral to membrane		p.G103V(1)		cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						TGCAAAGTTCCCCGTCTCTCC	0.502000													6	34					1.12685e-05	1.24679e-05	0.047766	1	0
CCDC171	203238	broad.mit.edu	37	9	15784550	15784550	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr9:15784550T>G	ENST00000380701.3	+	21	3453	c.3125T>G	c.(3124-3126)cTa>cGa	p.L1042R	CCDC171_ENST00000297641.3_Missense_Mutation_p.L1042R	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	1042								p.L309R(1)|p.L1042R(1)									TGTGAAGAACTAAATAATGCA	0.373000													5	22					0	0	0.014758	0	0
RPSAP58	388524	broad.mit.edu	37	19	24010122	24010122	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr19:24010122G>C	ENST00000496398.1	+	4	582	c.159G>C	c.(157-159)agG>agC	p.R53S	RP11-255H23.4_ENST00000599944.1_lincRNA|RP11-255H23.2_ENST00000471224.1_RNA|RPSAP58_ENST00000354585.4_Missense_Mutation_p.R53S														p.R53S(2)		endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						ATCTCAAGAGGACCTGGGAGA	0.468000													6	54					0	0	0.058154	0	0
OR2AG1	144125	broad.mit.edu	37	11	6806428	6806428	+	Silent	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr11:6806428C>A	ENST00000307401.4	+	1	181	c.160C>A	c.(160-162)Cgg>Agg	p.R54R		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.(=)(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CATGGAAGCCCGGCTCCACAT	0.547000													77	160					7.14593e-30	1.15315e-29	0.048971	1	0
PCDHA12	56137	broad.mit.edu	37	5	140256796	140256796	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr5:140256796T>A	ENST00000398631.2	+	1	1739	c.1739T>A	c.(1738-1740)tTg>tAg	p.L580*	PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1												p.L580*(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTAGCGAGTTGGTACCGCGG	0.662000													49	107					0	0	0.048971	0	0
CENPF	1063	broad.mit.edu	37	1	214791961	214791961	+	Silent	SNP	A	A	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:214791961A>T	ENST00000366955.3	+	4	573	c.405A>T	c.(403-405)gcA>gcT	p.A135A		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	135	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.A135A(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CGCAGTCTGCAGATGTCTCTC	0.398000													19	118					0	0	0.043863	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16838843	16838843	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr11:16838843C>A	ENST00000355661.3	-	11	1380	c.1370G>T	c.(1369-1371)cGc>cTc	p.R457L	PLEKHA7_ENST00000448080.2_Missense_Mutation_p.R457L|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.R457L			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	457					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	p.R457L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						AGGACCCTGGCGAGGAAGCGT	0.587000													38	140					8.16277e-20	1.20025e-19	0.027894	1	0
DOCK3	1795	broad.mit.edu	37	3	51392314	51392314	+	Splice_Site	SNP	A	A	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr3:51392314A>G	ENST00000266037.9	+	41	4132	c.4107_splice	c.e41-1	p.N1370_splice		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1370	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.N1370S(1)|p.N1359S(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTGTGGCAGAACAAAGAATAC	0.532000													58	151					0	0	0.048971	0	0
LIN37	55957	broad.mit.edu	37	19	36244981	36244981	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr19:36244981G>A	ENST00000301159.9	+	7	872	c.508G>A	c.(508-510)Ggg>Agg	p.G170R	AC002398.9_ENST00000591613.2_3'UTR	NM_019104.2	NP_061977.1	Q96GY3	LIN37_HUMAN	lin-37 homolog (C. elegans)	170	Pro-rich.						protein binding	p.G170R(1)		large_intestine(1)|lung(5)	6	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CACACCCCCGGGGCCACCCGG	0.642000													38	86					0	0	0.048971	0	0
SHANK1	50944	broad.mit.edu	37	19	51189549	51189549	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr19:51189549G>T	ENST00000293441.1	-	20	2540	c.2522C>A	c.(2521-2523)cCc>cAc	p.P841H	SHANK1_ENST00000391813.1_Missense_Mutation_p.P228H|SHANK1_ENST00000391814.1_Missense_Mutation_p.P849H|SHANK1_ENST00000359082.3_Missense_Mutation_p.P832H	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	841					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	p.P841H(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GAGGCCACCGGGACCAGGGCT	0.592000													30	97					1.30897e-18	1.89356e-18	0.041601	1	0
ICAM2	3384	broad.mit.edu	37	17	62081303	62081303	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr17:62081303A>T	ENST00000412356.1	-	5	704	c.350T>A	c.(349-351)cTg>cAg	p.L117Q	ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000579788.1_Missense_Mutation_p.L117Q|ICAM2_ENST00000579687.1_Missense_Mutation_p.L117Q|ICAM2_ENST00000578892.1_Missense_Mutation_p.L93Q|ICAM2_ENST00000578379.1_Missense_Mutation_p.L16Q|ICAM2_ENST00000449662.2_Missense_Mutation_p.L117Q|ICAM2_ENST00000418105.1_Missense_Mutation_p.L117Q|C17orf72_ENST00000412177.1_3'UTR	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	117					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	p.L117Q(1)		large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						TTGCAGTGTCAGGATGACCTG	0.637000													4	60					0	0	0.009096	0	0
KNDC1	85442	broad.mit.edu	37	10	134997434	134997434	+	Missense_Mutation	SNP	G	G	A	rs144320928		TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr10:134997434G>A	ENST00000304613.3	+	5	587	c.566G>A	c.(565-567)cGg>cAg	p.R189Q	KNDC1_ENST00000368571.2_Missense_Mutation_p.R124Q|KNDC1_ENST00000368572.2_Missense_Mutation_p.R189Q			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	189	KIND 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			p.R189Q(1)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CGCGTGTGCCGGAGCCTCTCT	0.607000													24	170					0	0	0.021523	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232619633	232619633	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:232619633G>A	ENST00000366630.1	-	5	2244	c.1886C>T	c.(1885-1887)aCg>aTg	p.T629M	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.T629M			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	629	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.T629M(1)		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)				TGGTCCCGCCGTCTCATTGTT	0.448000													10	103					0	0	0.013537	0	0
EXOC3	11336	broad.mit.edu	37	5	454086	454086	+	Silent	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr5:454086G>T	ENST00000512944.1	+	4	1155	c.966G>T	c.(964-966)cgG>cgT	p.R322R	EXOC3_ENST00000315013.5_Silent_p.R322R	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	333					exocytosis|protein transport			p.R322R(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TGAGCACGCGGATGCAGGACC	0.517000													6	38					0.000157383	0.000168302	0.038147	1	0
CNR2	1269	broad.mit.edu	37	1	24201556	24201556	+	Silent	SNP	T	T	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:24201556T>A	ENST00000536471.1	-	3	810	c.552A>T	c.(550-552)ccA>ccT	p.P184P	CNR2_ENST00000374472.4_Silent_p.P184P			P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	184					behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity	p.P184P(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	TGGGGATCAGTGGGAAAAGCT	0.562000													12	69					0	0	0.020292	0	0
ADAM23	8745	broad.mit.edu	37	2	207437900	207437900	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr2:207437900G>T	ENST00000264377.3	+	18	2046	c.1718G>T	c.(1717-1719)tGt>tTt	p.C573F	ADAM23_ENST00000374416.1_Missense_Mutation_p.C573F|ADAM23_ENST00000374415.3_Missense_Mutation_p.C573F	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	573	Disintegrin.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.C573F(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		ACTGAATATTGTACTGGAGAC	0.413000													63	161					1.55545e-33	2.55619e-33	0.048971	1	0
STK36	27148	broad.mit.edu	37	2	219563440	219563440	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr2:219563440C>T	ENST00000295709.3	+	26	3452	c.3173C>T	c.(3172-3174)tCc>tTc	p.S1058F	STK36_ENST00000440309.1_Missense_Mutation_p.S1058F|STK36_ENST00000392105.3_Missense_Mutation_p.S1037F|STK36_ENST00000392106.2_Missense_Mutation_p.S1037F	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	1058					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	p.S1058F(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GTGTCTGCCTCCCCTAGAACC	0.572000													116	284					0	0	0.048971	0	0
SEC22B	9554	broad.mit.edu	37	1	145115850	145115850	+	RNA	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:145115850C>A	ENST00000453618.1	+	0	936							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										CTGTATTTTTCATCATGTTAA	0.413000													17	117					1.96895e-08	2.34074e-08	0.016522	1	0
TAF1A	9015	broad.mit.edu	37	1	222761891	222761891	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:222761891A>T	ENST00000350027.4	-	2	168	c.15T>A	c.(13-15)agT>agA	p.S5R	TAF1A_ENST00000366890.1_5'UTR|TAF1A_ENST00000543857.1_Missense_Mutation_p.S5R|TAF1A_ENST00000465263.1_5'UTR|TAF1A_ENST00000391882.1_5'UTR|TAF1A_ENST00000352967.4_Missense_Mutation_p.S5R	NM_001201536.1	NP_001188465.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	5					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding	p.S5R(1)		kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		TTAATTCTTCACTGAAATCAC	0.378000													19	218					0	0	0.062417	0	0
ZNF490	57474	broad.mit.edu	37	19	12719994	12719994	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr19:12719994C>T	ENST00000311437.6	-	2	262	c.140G>A	c.(139-141)gGa>gAa	p.G47E	ZNF490_ENST00000465656.1_5'UTR	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	47					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G47E(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						GATGCTTTGTCCATGGTGTTC	0.418000													16	41					0	0	0.062417	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745546	77745546	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr2:77745546C>A	ENST00000409088.3	-	3	1863	c.1449G>T	c.(1447-1449)gaG>gaT	p.E483D	LRRTM4_ENST00000409282.1_Missense_Mutation_p.E484D|LRRTM4_ENST00000409911.1_Missense_Mutation_p.E484D|LRRTM4_ENST00000409884.1_Missense_Mutation_p.E483D|LRRTM4_ENST00000409093.1_Missense_Mutation_p.E483D	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	483						integral to membrane		p.E483D(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CCACATAATACTCCTGTAAAG	0.473000													3	24					0.004672	0.00490231	0.004672	1	0
FIBIN	387758	broad.mit.edu	37	11	27016285	27016285	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr11:27016285A>T	ENST00000318627.2	+	1	658	c.212A>T	c.(211-213)cAg>cTg	p.Q71L		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	71						extracellular region|Golgi apparatus		p.Q71L(1)		breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						GAGGGGAGCCAGGTTGGCAGC	0.662000													18	32					0	0	0.055883	0	0
TNFSF11	8600	broad.mit.edu	37	13	43181007	43181007	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr13:43181007C>T	ENST00000398795.2	+	5	1056	c.688C>T	c.(688-690)Cag>Tag	p.Q230*	TNFSF11_ENST00000239849.6_Nonsense_Mutation_p.Q303*|TNFSF11_ENST00000405262.2_Nonsense_Mutation_p.Q230*|TNFSF11_ENST00000544862.1_Nonsense_Mutation_p.Q230*|TNFSF11_ENST00000358545.2_Nonsense_Mutation_p.Q230*	NM_003701.3	NP_003692.1	O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	303					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding	p.Q303*(1)		kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		GGATCCGGATCAGGATGCAAC	0.398000													49	102					0	0	0.048971	0	0
MDN1	23195	broad.mit.edu	37	6	90503894	90503894	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr6:90503894C>G	ENST00000369393.3	-	4	702	c.587G>C	c.(586-588)tGt>tCt	p.C196S	MDN1_ENST00000428876.1_Missense_Mutation_p.C196S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	196					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.C196S(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCATTCATACAGGTAACCAA	0.338000													23	44					0	0	0.030593	0	0
FNDC8	54752	broad.mit.edu	37	17	33448781	33448781	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr17:33448781C>A	ENST00000158009.5	+	1	184	c.69C>A	c.(67-69)aaC>aaA	p.N23K		NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	23								p.N23K(1)		breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		AAAACTTCAACATGATGAATG	0.502000													18	159					0.00074312	0.000787144	0.038395	1	0
SKIV2L2	23517	broad.mit.edu	37	5	54654435	54654435	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr5:54654435G>C	ENST00000230640.5	+	15	1822	c.1568G>C	c.(1567-1569)cGt>cCt	p.R523P	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.R422P	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	523	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.R523H(1)|p.R523P(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				ATGTCTGGTCGTGCTGGAAGG	0.323000													4	39					0	0	0.038147	0	0
STRN3	29966	broad.mit.edu	37	14	31374709	31374709	+	Silent	SNP	T	T	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr14:31374709T>A	ENST00000355683.5	-	13	1907	c.1692A>T	c.(1690-1692)gtA>gtT	p.V564V	STRN3_ENST00000357479.5_Silent_p.V648V	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	648					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	p.V564V(1)|p.V648V(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TGAAAGAGGTTACCATATGAG	0.368000													4	21					0	0	0.021553	0	0
KMT2D	8085	broad.mit.edu	37	12	49422684	49422684	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr12:49422684G>A	ENST00000301067.7	-	45	14308	c.14309C>T	c.(14308-14310)cCt>cTt	p.P4770L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.P4770L(1)|p.P4500L(1)									AGTTGTGACAGGCAGCTTTCC	0.542000													86	231					0	0	0.048971	0	0
RP1L1	94137	broad.mit.edu	37	8	10470214	10470214	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr8:10470214G>T	ENST00000382483.3	-	4	1617	c.1394C>A	c.(1393-1395)tCg>tAg	p.S465*		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	465					intracellular signal transduction			p.S465*(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCTGGCTCCGAGCCCTCGGG	0.716000													13	67					8.10497e-08	9.53401e-08	0.055883	1	0
OR2T33	391195	broad.mit.edu	37	1	248436566	248436566	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:248436566C>A	ENST00000318021.2	-	1	572	c.551G>T	c.(550-552)cGt>cTt	p.R184L		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R184L(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			ACAAGCCAAACGCACCAGCAC	0.542000													11	168					2.79863e-10	3.50417e-10	0.024334	1	0
TRPC5	7224	broad.mit.edu	37	X	111020010	111020010	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chrX:111020010G>T	ENST00000262839.2	-	11	3371	c.2453C>A	c.(2452-2454)cCa>cAa	p.P818Q		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	818					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.P818Q(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ACTGGACCTTGGCATGGTTCT	0.498000													89	54					2.75442e-36	4.61133e-36	0.048971	1	0
GPR22	2845	broad.mit.edu	37	7	107115753	107115753	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr7:107115753T>A	ENST00000304402.4	+	3	2591	c.1248T>A	c.(1246-1248)ttT>ttA	p.F416L	COG5_ENST00000393603.2_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000475638.2_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	416						integral to plasma membrane	G-protein coupled receptor activity	p.F416L(1)		large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						AAATTACCTTTGAAGATAGTG	0.338000													7	5					0	0	0.038147	0	0
CCDC88C	440193	broad.mit.edu	37	14	91779574	91779574	+	Silent	SNP	C	C	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr14:91779574C>G	ENST00000389857.6	-	15	2672	c.2586G>C	c.(2584-2586)ctG>ctC	p.L862L		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	862					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	p.L862L(2)		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)				CAACGGCGGACAGTTTGGCAG	0.622000													25	138					0	0	0.034045	0	0
MUC16	94025	broad.mit.edu	37	19	9062932	9062932	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr19:9062932G>T	ENST00000397910.4	-	3	24717	c.24514C>A	c.(24514-24516)Ctc>Atc	p.L8172I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8174	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L8172I(2)|p.L3805I(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACACTGTGAGCTGAGCAAAG	0.502000													42	108					2.37825e-27	3.74323e-27	0.039052	1	0
TSSK4	283629	broad.mit.edu	37	14	24676508	24676508	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr14:24676508T>A	ENST00000339917.5	+	3	831	c.627T>A	c.(625-627)tgT>tgA	p.C209*	TSSK4_ENST00000287913.6_Nonsense_Mutation_p.C199*|TM9SF1_ENST00000530611.1_Intron|TSSK4_ENST00000428351.2_Intron|TM9SF1_ENST00000556387.1_Intron|TSSK4_ENST00000556621.1_Nonsense_Mutation_p.C123*	NM_001184739.1|NM_174944.3	NP_001171668.1|NP_777604.2	Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	199	Protein kinase.				cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.C199*(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		AGACTTACTGTGGCAGCTTTG	0.527000													98	201					0	0	0.048971	0	0
ATP10D	57205	broad.mit.edu	37	4	47556801	47556801	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr4:47556801G>T	ENST00000273859.3	+	11	1963	c.1694G>T	c.(1693-1695)cGg>cTg	p.R565L		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	565					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.R565L(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ATTACACCTCGGCTCTTTATG	0.388000													25	94					7.07758e-08	8.34744e-08	0.024334	1	0
POLQ	10721	broad.mit.edu	37	3	121206886	121206886	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr3:121206886C>G	ENST00000264233.5	-	16	5020	c.4892G>C	c.(4891-4893)tGg>tCg	p.W1631S		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1631					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	p.W1766S(1)		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)		TGCCCCTGACCATATGAATGA	0.383000								DNA polymerases (catalytic subunits)					50	130					0	0	0.048971	0	0
BAI3	577	broad.mit.edu	37	6	69348714	69348714	+	Silent	SNP	T	T	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr6:69348714T>A	ENST00000370598.1	+	3	968	c.147T>A	c.(145-147)ccT>ccA	p.P49P		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	49	CUB.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P49P(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAATGTTTCCTAAAAACTTTA	0.383000													53	63					0	0	0.048971	0	0
ZNF416	55659	broad.mit.edu	37	19	58084737	58084737	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr19:58084737C>A	ENST00000196489.3	-	4	757	c.535G>T	c.(535-537)Gac>Tac	p.D179Y		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D179Y(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GCTAGGAAGTCCTTCCCAACC	0.483000													40	97					3.61848e-18	5.21065e-18	0.030466	1	0
LILRA1	11024	broad.mit.edu	37	19	55106723	55106723	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr19:55106723C>A	ENST00000453777.1	+	5	687	c.517C>A	c.(517-519)Cgt>Agt	p.R173S	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000251372.3_Missense_Mutation_p.R173S	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	173	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.R173S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTCACAGCCCCGTACCCATGG	0.567000													77	210					6.8793e-45	1.18271e-44	0.048971	1	0
TTN	7273	broad.mit.edu	37	2	179474458	179474458	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr2:179474458C>A	ENST00000589042.1	-	272	51916	c.51692G>T	c.(51691-51693)aGt>aTt	p.S17231I	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S14663I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S8166I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S8358I|TTN_ENST00000359218.5_Missense_Mutation_p.S8291I|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S15590I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15590	Fibronectin type-III 24.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S14663I(2)|p.S8358I(1)|p.S8166I(1)|p.S8291I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAAGGTTCACTAATACCCGC	0.448000													52	138					2.43468e-25	3.73987e-25	0.048971	1	0
TTN	7273	broad.mit.edu	37	2	179415733	179415733	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr2:179415733A>T	ENST00000589042.1	-	336	91749	c.91525T>A	c.(91525-91527)Tca>Aca	p.S30509T	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S27941T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S21444T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S21636T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S21569T|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S28868T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28868	Fibronectin type-III 122.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S21636T(1)|p.S21569T(1)|p.S27939T(1)|p.S21444T(1)|p.S27941T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAGACTGTGAGGGCGGGCTT	0.388000													8	20					0	0	0.047766	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497520	1497520	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr8:1497520G>T	ENST00000421627.2	+	2	795	c.661G>T	c.(661-663)Gac>Tac	p.D221Y		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	300					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.D243Y(1)|p.D265Y(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GAGCTCGGACGACAACCTGGA	0.697000													36	68					6.68952e-21	9.96739e-21	0.045515	1	0
CSMD3	114788	broad.mit.edu	37	8	113314033	113314033	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr8:113314033G>T	ENST00000297405.5	-	53	8673	c.8429C>A	c.(8428-8430)aCc>aAc	p.T2810N	CSMD3_ENST00000352409.3_Missense_Mutation_p.T2740N|CSMD3_ENST00000343508.3_Missense_Mutation_p.T2770N|CSMD3_ENST00000455883.2_Missense_Mutation_p.T2641N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2810	Sushi 17.					integral to membrane|plasma membrane		p.T2770N(1)|p.T2810N(1)		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						TAGGCATCTGGTTTCAGATTC	0.438000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			13	42					1.49906e-05	1.65044e-05	0.020292	1	0
TRIP10	9322	broad.mit.edu	37	19	6750571	6750571	+	Silent	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr19:6750571G>A	ENST00000600428.1	+	13	1738	c.1092G>A	c.(1090-1092)acG>acA	p.T364T	TRIP10_ENST00000313285.8_Silent_p.T472T|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000313244.9_Silent_p.T528T|TRIP10_ENST00000596758.1_Silent_p.T472T			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	528	Interaction with CDC42.|Interaction with PDE6G (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding	p.T528T(1)|p.T472T(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						CCATTTACACGGAGTTTGATG	0.557000													18	126					0	0	0.055883	0	0
POSTN	10631	broad.mit.edu	37	13	38172804	38172804	+	Silent	SNP	G	G	A	rs138966400	byFrequency	TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr13:38172804G>A	ENST00000379747.4	-	1	177	c.60C>T	c.(58-60)aaC>aaT	p.N20N	POSTN_ENST00000541179.1_Silent_p.N20N|POSTN_ENST00000379749.4_Silent_p.N20N|POSTN_ENST00000379742.4_Silent_p.N20N|POSTN_ENST00000541481.1_Silent_p.N20N|POSTN_ENST00000379743.4_Silent_p.N20N	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	20					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	p.N20N(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		GATTGTTGGCGTTTATAGGGT	0.413000													8	53					0	0	0.047766	0	0
COPS2	9318	broad.mit.edu	37	15	49431825	49431825	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr15:49431825C>G	ENST00000388901.5	-	4	345	c.272G>C	c.(271-273)aGa>aCa	p.R91T	COPS2_ENST00000542928.1_Missense_Mutation_p.R27T|COPS2_ENST00000299259.6_Missense_Mutation_p.R91T	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	91					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity	p.R91K(1)|p.R91T(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		CTGCTTATATCTATTCATCAT	0.289000													10	55					0	0	0.010729	0	0
HOXB4	3214	broad.mit.edu	37	17	46655326	46655326	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr17:46655326G>T	ENST00000332503.5	-	1	2147	c.356C>A	c.(355-357)cCg>cAg	p.P119Q	HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000472863.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000465120.3_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	119	Pro-rich (part of the transcriptional activation domain).					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P119Q(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						GCAGGGAGGCGGCGGGGGGCT	0.756000													13	60					6.31663e-08	7.46966e-08	0.024245	1	0
STAB1	23166	broad.mit.edu	37	3	52553536	52553536	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr3:52553536G>A	ENST00000321725.6	+	50	5267	c.5191G>A	c.(5191-5193)Gcc>Acc	p.A1731T		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1731	FAS1 6.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.A1731T(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TGTCACCGCCGCCGCCCAGGG	0.602000													17	93					0	0	0.049695	0	0
KRTAP13-3	337960	broad.mit.edu	37	21	31798219	31798219	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr21:31798219G>T	ENST00000390690.2	-	1	67	c.12C>A	c.(10-12)aaC>aaA	p.N4K		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	4						intermediate filament		p.N4K(1)		endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						TAGAGCAACAGTTGTAGGACA	0.512000													19	91					6.33239e-15	8.68275e-15	0.055883	1	0
PCDHB16	57717	broad.mit.edu	37	5	140564342	140564342	+	Silent	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr5:140564342G>T	ENST00000361016.2	+	1	3363	c.2208G>T	c.(2206-2208)ctG>ctT	p.L736L		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		736					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.L736L(1)		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)			CAGGGCGTCTGGTGGACGTAA	0.632000													38	160					2.40579e-17	3.42481e-17	0.025465	1	0
SLC9A4	389015	broad.mit.edu	37	2	103095664	103095664	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr2:103095664C>T	ENST00000295269.4	+	2	1080	c.623C>T	c.(622-624)cCa>cTa	p.P208L		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	208					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	p.P208L(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GCCGTGGACCCAGTGGCCGTG	0.597000													10	19					0	0	0.020292	0	0
BAGE2	85319	broad.mit.edu	37	21	11038750	11038750	+	RNA	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr21:11038750G>T	ENST00000470054.1	-	0	1453									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGGTCTACCAGGAGAAAATTT	0.373000													7	134					0.00829132	0.00865939	0.008291	1	0
NRXN1	9378	broad.mit.edu	37	2	50318616	50318616	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr2:50318616C>A	ENST00000404971.1	-	20	5022	c.3683G>T	c.(3682-3684)gGa>gTa	p.G1228V	NRXN1_ENST00000406316.2_Missense_Mutation_p.G1188V|NRXN1_ENST00000406859.3_Missense_Mutation_p.G1188V|NRXN1_ENST00000401710.1_Missense_Mutation_p.G206V|NRXN1_ENST00000342183.5_Missense_Mutation_p.G153V|NRXN1_ENST00000401669.2_Missense_Mutation_p.G1188V|NRXN1_ENST00000405472.3_Missense_Mutation_p.G1180V|NRXN1_ENST00000402717.3_Missense_Mutation_p.G1180V	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1188	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.G1229V(1)|p.G153V(1)|p.G1228V(1)|p.G1188V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AAACTTAACTCCAATTTTTCC	0.363000													28	74					4.22769e-11	5.32332e-11	0.030593	1	0
ZBBX	79740	broad.mit.edu	37	3	167086333	167086333	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr3:167086333A>T	ENST00000392766.2	-	5	438	c.98T>A	c.(97-99)gTa>gAa	p.V33E	ZBBX_ENST00000307529.5_Missense_Mutation_p.V33E|ZBBX_ENST00000455345.2_Missense_Mutation_p.V33E|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392767.2_Missense_Mutation_p.V33E|ZBBX_ENST00000392764.1_Missense_Mutation_p.V4E	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	33						intracellular	zinc ion binding	p.V33E(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CTCTAACTGTACTTTCTCCAT	0.343000													15	22					0	0	0.033300	0	0
ITGA2	3673	broad.mit.edu	37	5	52360751	52360751	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr5:52360751G>T	ENST00000296585.5	+	14	1755	c.1612G>T	c.(1612-1614)Ggt>Tgt	p.G538C		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	538					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	p.G538C(2)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GGGCATTTTGGGTCAGCACCA	0.433000													21	47					1.50039e-11	1.92723e-11	0.062417	1	0
PPP3R1	5534	broad.mit.edu	37	2	68413773	68413773	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr2:68413773T>C	ENST00000234310.3	-	5	695	c.292A>G	c.(292-294)Atc>Gtc	p.I98V	PPP3R1_ENST00000409752.1_Missense_Mutation_p.I117V|PPP3R1_ENST00000409377.1_Missense_Mutation_p.I88V	NM_000945.3	NP_000936.1	P63098	CANB1_HUMAN	protein phosphatase 3, regulatory subunit B, alpha	98	EF-hand 3.				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	calcineurin complex|cytosol	calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding	p.I98V(1)		large_intestine(1)	1					Pimecrolimus(DB00337)	ATGTCATAGATACGGAAAGCA	0.348000													7	11					0	0	0.038147	0	0
PSG7	5676	broad.mit.edu	37	19	43430068	43430068	+	RNA	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr19:43430068G>T	ENST00000406070.2	-	0	1196				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				CCCATTAATTGTCCAAGAATA	0.458000													86	232					4.31119e-35	7.16394e-35	0.048971	1	0
MATN1	4146	broad.mit.edu	37	1	31189047	31189047	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:31189047C>T	ENST00000373765.4	-	5	951	c.916G>A	c.(916-918)Gac>Aac	p.D306N	MATN1_ENST00000477320.1_5'UTR	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	306	VWFA 2.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.D306N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGACACGTCCAGCGTATCC	0.562000													30	74					0	0	0.030466	0	0
KLB	152831	broad.mit.edu	37	4	39408691	39408691	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr4:39408691T>A	ENST00000257408.4	+	1	219	c.122T>A	c.(121-123)cTg>cAg	p.L41Q		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	41					carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.L41K(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						TCTGTCATCCTGTCAGCACTT	0.418000													26	86					0	0	0.030593	0	0
BIRC7	79444	broad.mit.edu	37	20	61870735	61870735	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr20:61870735G>T	ENST00000217169.3	+	6	889	c.675G>T	c.(673-675)caG>caT	p.Q225H	BIRC7_ENST00000342412.6_Intron|BIRC7_ENST00000395306.1_Intron	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	225					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding	p.Q225H(1)		endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					CCGAGGCCCAGAGGGCGTGGT	0.692000													63	56					9.65139e-37	1.62187e-36	0.048971	1	0
ROBO2	6092	broad.mit.edu	37	3	77612382	77612382	+	Silent	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr3:77612382G>T	ENST00000461745.1	+	11	2484	c.1584G>T	c.(1582-1584)ccG>ccT	p.P528P	ROBO2_ENST00000332191.8_Silent_p.P528P|ROBO2_ENST00000487694.3_Silent_p.P544P	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	528	Fibronectin type-III 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.P528P(1)|p.P544P(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CATCCAAACCGCAGGTCACTG	0.463000													14	33					6.31663e-08	7.46966e-08	0.024245	1	0
NOP56	10528	broad.mit.edu	37	20	2638609	2638609	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr20:2638609A>C	ENST00000329276.5	+	12	1970	c.1454A>C	c.(1453-1455)cAa>cCa	p.Q485P	NOP56_ENST00000492135.1_3'UTR	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	485	Lys-rich.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	p.Q485P(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						AAGAAAAAGCAAAAGCCCCAG	0.428000													177	278					0	0	0.048971	0	0
DIAPH3	81624	broad.mit.edu	37	13	60582753	60582753	+	Silent	SNP	T	T	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr13:60582753T>A	ENST00000400324.4	-	9	1159	c.939A>T	c.(937-939)tcA>tcT	p.S313S	DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Silent_p.S243S|DIAPH3_ENST00000400320.1_Silent_p.S267S|DIAPH3_ENST00000400330.1_Silent_p.S313S|DIAPH3_ENST00000377908.2_Silent_p.S302S|DIAPH3_ENST00000267215.4_Silent_p.S313S	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	313	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.S313S(1)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CTTCACCAGCTGAAGTTAAAG	0.328000													17	119					0	0	0.038395	0	0
ROBO2	6092	broad.mit.edu	37	3	77595510	77595510	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr3:77595510G>A	ENST00000461745.1	+	7	1856	c.956G>A	c.(955-957)cGg>cAg	p.R319Q	ROBO2_ENST00000332191.8_Missense_Mutation_p.R319Q|ROBO2_ENST00000487694.3_Missense_Mutation_p.R335Q	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	319	Ig-like C2-type 4.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.R319Q(1)|p.R335Q(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TTTGTGGTTCGGCCAAGAGAT	0.398000													21	86					0	0	0.049695	0	0
TAS1R2	80834	broad.mit.edu	37	1	19181144	19181144	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:19181144C>T	ENST00000375371.3	-	3	841	c.820G>A	c.(820-822)Gtg>Atg	p.V274M	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	274					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.V274M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GGCGAGAACACGACCACGACG	0.627000													4	52					0	0	0.009096	0	0
ALG13	79868	broad.mit.edu	37	X	110988103	110988103	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chrX:110988103G>A	ENST00000394780.3	+	24	2915	c.2903G>A	c.(2902-2904)tGt>tAt	p.C968Y	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Intron	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	968	Pro-rich.				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	p.C968Y(1)		endometrium(2)|lung(10)|skin(1)	13						ccTTATTCCTGTGATCCAAGC	0.473000													10	4					0	0	0.013537	0	0
DDX11	1663	broad.mit.edu	37	12	31249592	31249592	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr12:31249592T>A	ENST00000407793.2	+	16	1794	c.1543T>A	c.(1543-1545)Tac>Aac	p.Y515N	DDX11_ENST00000228264.6_Missense_Mutation_p.Y489N|DDX11_ENST00000539673.1_3'UTR|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Missense_Mutation_p.Y515N|DDX11_ENST00000542838.1_Missense_Mutation_p.Y515N|DDX11_ENST00000545668.1_Missense_Mutation_p.Y515N	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	515					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	p.Y515N(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CACTGAACGGTACGGAGCAGT	0.592000										Multiple Myeloma(12;0.14)			22	74					0	0	0.018920	0	0
TTLL2	83887	broad.mit.edu	37	6	167753913	167753913	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr6:167753913C>A	ENST00000239587.5	+	3	613	c.525C>A	c.(523-525)taC>taA	p.Y175*		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	175	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity	p.Y175*(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CTTCCCTGTACCAGTTCATCC	0.507000													48	102					2.64894e-19	3.88222e-19	0.048971	1	0
LAMA2	3908	broad.mit.edu	37	6	129649532	129649532	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr6:129649532G>T	ENST00000421865.2	+	29	4335	c.4286G>T	c.(4285-4287)tGt>tTt	p.C1429F		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1429	Laminin EGF-like 15.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.C1429F(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGCAGCCTGTGTGACCCTGAA	0.532000													61	125					1.02016e-41	1.73388e-41	0.048971	1	0
TRPM3	80036	broad.mit.edu	37	9	73218374	73218374	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr9:73218374C>A	ENST00000377110.2	-	19	2887	c.2644G>T	c.(2644-2646)Gga>Tga	p.G882*	TRPM3_ENST00000377106.1_Nonsense_Mutation_p.G754*|TRPM3_ENST00000396292.4_Nonsense_Mutation_p.G754*|TRPM3_ENST00000396280.5_Nonsense_Mutation_p.G731*|TRPM3_ENST00000377105.1_Nonsense_Mutation_p.G741*|TRPM3_ENST00000423814.3_Nonsense_Mutation_p.G909*|TRPM3_ENST00000396285.1_Nonsense_Mutation_p.G729*|TRPM3_ENST00000360823.2_Nonsense_Mutation_p.G744*|TRPM3_ENST00000408909.2_Nonsense_Mutation_p.G741*|TRPM3_ENST00000377111.2_Nonsense_Mutation_p.G882*|TRPM3_ENST00000358082.3_Nonsense_Mutation_p.G744*|TRPM3_ENST00000357533.2_Nonsense_Mutation_p.G886*	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	907						integral to membrane	calcium channel activity	p.G882*(1)|p.G754*(1)|p.G886*(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ATCAGGTATCCGATATACGCC	0.522000													26	38					3.73148e-12	4.90579e-12	0.034045	1	0
RNASE11	122651	broad.mit.edu	37	14	21052268	21052268	+	Silent	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr14:21052268G>T	ENST00000335950.4	-	3	828	c.366C>A	c.(364-366)cgC>cgA	p.R122R	RNASE11_ENST00000398008.2_Silent_p.R122R|RNASE11_ENST00000553849.1_Silent_p.R122R|RNASE11_ENST00000432835.2_Silent_p.R122R|RNASE11_ENST00000555841.1_Silent_p.R122R|RNASE11_ENST00000398009.2_Silent_p.R122R	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	122						extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.R122R(1)		endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		CTGTGGAGCTGCGGATGAAGT	0.488000													22	59					0.00188189	0.00198397	0.062417	1	0
ASB7	140460	broad.mit.edu	37	15	101170138	101170138	+	Silent	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr15:101170138C>T	ENST00000332783.7	+	5	1493	c.708C>T	c.(706-708)taC>taT	p.Y236Y	ASB7_ENST00000558747.1_Intron|ASB7_ENST00000343276.4_Silent_p.Y236Y	NM_198243.2	NP_937886.1	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box containing 7	236					intracellular signal transduction			p.Y236Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)	16	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			TATATAATTACGGAGCAGACA	0.453000													16	86					0	0	0.014323	0	0
FCRL2	79368	broad.mit.edu	37	1	157738300	157738300	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:157738300G>T	ENST00000361516.3	-	5	835	c.787C>A	c.(787-789)Cca>Aca	p.P263T	FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Missense_Mutation_p.P263T	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	263	Ig-like C2-type 3.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	p.P263T(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TTCACAGCTGGGATCTCCAGC	0.512000													143	214					3.42498e-63	5.98034e-63	0.048971	1	0
EPRS	2058	broad.mit.edu	37	1	220178627	220178627	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:220178627C>T	ENST00000366923.3	-	16	2295	c.2026G>A	c.(2026-2028)Gga>Aga	p.G676R	EPRS_ENST00000464052.1_5'UTR	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	676	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	p.G676R(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	ATGAAGAATCCTCTTCTCTGG	0.333000													6	70					0	0	0.029380	0	0
MED13L	23389	broad.mit.edu	37	12	116401214	116401214	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr12:116401214T>A	ENST00000281928.3	-	30	6704	c.6498A>T	c.(6496-6498)ttA>ttT	p.L2166F		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2166					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			p.L2166F(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GTATCTACCTTAAAACATCCG	0.428000													22	47					0	0	0.016522	0	0
INSRR	3645	broad.mit.edu	37	1	156810734	156810734	+	Silent	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:156810734G>T	ENST00000368195.3	-	22	4221	c.3825C>A	c.(3823-3825)acC>acA	p.T1275T	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1275					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	p.T1275T(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCTCTGCATCGGTGGTAGGCA	0.647000													4	73					8.12818e-05	8.75494e-05	0.029380	1	0
ARHGAP31	57514	broad.mit.edu	37	3	119134364	119134364	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr3:119134364G>T	ENST00000264245.4	+	12	4120	c.3588G>T	c.(3586-3588)caG>caT	p.Q1196H		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1196					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	p.Q1196H(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AAATGTGCCAGGCCAGGGCGG	0.582000													12	78					2.32078e-09	2.8344e-09	0.024245	1	0
LOC645752	645752	broad.mit.edu	37	15	78211461	78211461	+	RNA	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr15:78211461C>A	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TCTCCTCCTGCTCCTGGAGTC	0.567000													57	179					6.3237e-29	1.00953e-28	0.048971	1	0
BECN1	8678	broad.mit.edu	37	17	40966604	40966604	+	Silent	SNP	A	A	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr17:40966604A>G	ENST00000361523.4	-	9	1050	c.918T>C	c.(916-918)gcT>gcC	p.A306A	BECN1_ENST00000438274.3_Silent_p.A230A|BECN1_ENST00000590099.1_Silent_p.A306A	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	306					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding	p.A306A(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TCTGGCCCCAAGCAGCATTAA	0.512000													28	91					0	0	0.030593	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33683976	33683976	+	Silent	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr5:33683976G>T	ENST00000504830.1	-	4	1154	c.819C>A	c.(817-819)acC>acA	p.T273T	ADAMTS12_ENST00000352040.3_Silent_p.T273T|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	273	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.T273T(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGTTCATGATGGTGAGGATGT	0.463000										HNSCC(64;0.19)			25	59					1.04121e-07	1.22158e-07	0.027356	1	0
PLCE1	51196	broad.mit.edu	37	10	95791385	95791385	+	Silent	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr10:95791385C>T	ENST00000260766.3	+	2	1216	c.582C>T	c.(580-582)gaC>gaT	p.D194D	PLCE1_ENST00000371380.2_Silent_p.D194D	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	194					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	p.D194D(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ATGAAGTTGACAGAAGAATGT	0.418000													17	68					0	0	0.038395	0	0
ALDOB	229	broad.mit.edu	37	9	104189921	104189921	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr9:104189921A>T	ENST00000374855.4	-	5	507	c.383T>A	c.(382-384)cTt>cAt	p.L128H	ALDOB_ENST00000468981.2_Intron	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	128					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding	p.L128H(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GAGGCCATCAAGCCCTGCAAG	0.498000													12	54					0	0	0.020292	0	0
RASA2	5922	broad.mit.edu	37	3	141327427	141327427	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr3:141327427C>T	ENST00000286364.3	+	21	2148	c.2113C>T	c.(2113-2115)Cga>Tga	p.R705*	RASA2_ENST00000452898.1_Nonsense_Mutation_p.R706*|RASA2_ENST00000509118.1_3'UTR			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	705	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	p.R705*(2)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						CAGGGTGAGCCGATGCAATCA	0.448000													6	32					0	0	0.047766	0	0
FAT3	120114	broad.mit.edu	37	11	92087733	92087733	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr11:92087733A>G	ENST00000298047.6	+	1	2472	c.2455A>G	c.(2455-2457)Atc>Gtc	p.I819V	FAT3_ENST00000541502.1_Missense_Mutation_p.I819V|FAT3_ENST00000409404.2_Missense_Mutation_p.I819V|FAT3_ENST00000525166.1_Missense_Mutation_p.I669V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	819	Cadherin 7.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.I819V(2)		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)				ACTGCTGACCATCAATGTGGA	0.403000										TCGA Ovarian(4;0.039)			23	46					0	0	0.021523	0	0
LOC645166	645166	broad.mit.edu	37	1	148932875	148932875	+	RNA	SNP	G	G	C			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:148932875G>C	ENST00000539543.1	+	0	131					NR_027355.1																						GGTGGGAGACGGGTGAGGTAC	0.632000													77	331					0	0	0.048971	0	0
TRAV9-2	28677	broad.mit.edu	37	14	22409639	22409639	+	RNA	SNP	G	G	C			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr14:22409639G>C	ENST00000390441.2	+	0	185																											TAAACTGCACGTACACAGCCA	0.488000													8	27					0	0	0.058154	0	0
HERC2	8924	broad.mit.edu	37	15	28414753	28414753	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr15:28414753C>A	ENST00000261609.7	-	66	10214	c.10106G>T	c.(10105-10107)gGt>gTt	p.G3369V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3369					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.G3369F(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATTACTTGCACCACTTATTTT	0.378000													23	94					7.92952e-12	1.03338e-11	0.021523	1	0
FLG	2312	broad.mit.edu	37	1	152277110	152277110	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:152277110C>A	ENST00000368799.1	-	3	10287	c.10252G>T	c.(10252-10254)Gca>Tca	p.A3418S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3418	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.A3418S(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCTCGTGCCTGCTCGTGG	0.597000									Ichthyosis				103	676					3.34506e-74	5.91004e-74	0.048971	1	0
GPC6	10082	broad.mit.edu	37	13	94482405	94482405	+	Splice_Site	SNP	A	A	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr13:94482405A>T	ENST00000377047.4	+	3	934		c.e3-1		GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6							anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.?(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TTTTATCTGCAGAATTTTTCC	0.378000													21	43					0	0	0.018920	0	0
MURC	347273	broad.mit.edu	37	9	103348672	103348672	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr9:103348672A>T	ENST00000307584.5	+	2	1099	c.1034A>T	c.(1033-1035)aAa>aTa	p.K345I		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	345					cell differentiation|muscle organ development|transcription, DNA-dependent			p.K345I(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				GTTACTTTTAAATCTCAGGTG	0.423000													41	50					0	0	0.042209	0	0
HERC2	8924	broad.mit.edu	37	15	28414754	28414754	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr15:28414754C>A	ENST00000261609.7	-	66	10213	c.10105G>T	c.(10105-10107)Ggt>Tgt	p.G3369C		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3369					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.G3369F(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTACTTGCACCACTTATTTTA	0.378000													24	93					2.48779e-11	3.15027e-11	0.027356	1	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253670	32253670	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr21:32253670C>G	ENST00000332378.4	-	1	204	c.174G>C	c.(172-174)gaG>gaC	p.E58D		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	58						keratin filament	structural molecule activity	p.E58D(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						CACAGCAGGTCTCTTGACAGT	0.557000													28	67					0	0	0.024334	0	0
TRPM3	80036	broad.mit.edu	37	9	73151524	73151524	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr9:73151524G>T	ENST00000377110.2	-	25	4712	c.4469C>A	c.(4468-4470)cCt>cAt	p.P1490H	TRPM3_ENST00000377106.1_Missense_Mutation_p.P1362H|TRPM3_ENST00000396292.4_Missense_Mutation_p.P1362H|TRPM3_ENST00000396280.5_Missense_Mutation_p.P1339H|TRPM3_ENST00000377105.1_Missense_Mutation_p.P1349H|TRPM3_ENST00000423814.3_Missense_Mutation_p.P1517H|TRPM3_ENST00000396285.1_Missense_Mutation_p.P1349H|TRPM3_ENST00000360823.2_Missense_Mutation_p.P1352H|TRPM3_ENST00000408909.2_Missense_Mutation_p.P1349H|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000358082.3_Missense_Mutation_p.P1352H|TRPM3_ENST00000357533.2_Missense_Mutation_p.P1494H	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1515						integral to membrane	calcium channel activity	p.P1362H(1)|p.P1490H(1)|p.P1494H(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GTACATCGGAGGCTCTGAGTC	0.493000													40	64					8.01111e-26	1.23909e-25	0.039052	1	0
EIF2B4	8890	broad.mit.edu	37	2	27590037	27590037	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr2:27590037C>A	ENST00000493344.2	-	9	1292	c.980G>T	c.(979-981)cGg>cTg	p.R327L	EIF2B4_ENST00000451130.2_Missense_Mutation_p.R326L|EIF2B4_ENST00000445933.2_Missense_Mutation_p.R305L|EIF2B4_ENST00000347454.4_Missense_Mutation_p.R306L|AC074117.10_ENST00000412749.1_RNA			Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	306					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding	p.R306L(1)|p.R326L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGCACATACCGATCAATGGC	0.433000													72	181					4.18771e-30	6.78227e-30	0.048971	1	0
CACNA1H	8912	broad.mit.edu	37	16	1250434	1250434	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr16:1250434G>A	ENST00000348261.5	+	7	1230	c.982G>A	c.(982-984)Gag>Aag	p.E328K	CACNA1H_ENST00000565831.1_Missense_Mutation_p.E328K|CACNA1H_ENST00000358590.4_Missense_Mutation_p.E328K	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	328					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.E328K(4)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GCCGCAGGCCGAGGGGGTGGG	0.667000													11	24					0	0	0.020292	0	0
KRT33B	3884	broad.mit.edu	37	17	39521447	39521447	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr17:39521447G>T	ENST00000251646.3	-	5	905	c.856C>A	c.(856-858)Ctg>Atg	p.L286M		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	286	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity	p.L286M(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TGGGCCTGCAGCTCGATCTCC	0.592000													45	176					2.23044e-30	3.62547e-30	0.048971	1	0
OR13C2	392376	broad.mit.edu	37	9	107367202	107367202	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr9:107367202T>A	ENST00000542196.1	-	1	749	c.707A>T	c.(706-708)aAa>aTa	p.K236I		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K236I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AGAGGAAGCTTTGCTTCTCCC	0.393000													31	55					0	0	0.054565	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454289	84454289	+	Silent	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr13:84454289G>A	ENST00000377084.2	-	1	2239	c.1354C>T	c.(1354-1356)Ctg>Ttg	p.L452L		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	452						integral to membrane		p.L452L(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TCCACGTTCAGGTACTCTAGG	0.512000													54	139					0	0	0.048971	0	0
SYNM	23336	broad.mit.edu	37	15	99673193	99673193	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr15:99673193C>T	ENST00000336292.6	+	5	4745	c.4625C>T	c.(4624-4626)tCa>tTa	p.S1542L	SYNM_ENST00000328642.7_Missense_Mutation_p.S1230L|SYNM_ENST00000560674.1_Missense_Mutation_p.S945L|SYNM_ENST00000561323.1_3'UTR	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1543	Interaction with DMD and UTRN.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	p.S1230L(1)|p.S1542L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TCGGTGATTTCAGATGAAAAG	0.468000													6	39					0	0	0.021553	0	0
TCTEX1D1	200132	broad.mit.edu	37	1	67241985	67241985	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:67241985G>T	ENST00000282670.2	+	4	363	c.235G>T	c.(235-237)Gtc>Ttc	p.V79F		NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	79								p.V79F(1)		large_intestine(2)|lung(10)|skin(1)	13						TTTTCCTGTGGTCACCGTCAA	0.358000													15	32					3.99206e-14	5.40742e-14	0.043863	1	0
MYL2	4633	broad.mit.edu	37	12	111356969	111356969	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr12:111356969C>A	ENST00000228841.8	-	2	79	c.32G>T	c.(31-33)gGg>gTg	p.G11V	MYL2_ENST00000548438.1_Missense_Mutation_p.G11V	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	11					cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle	p.G11V(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						GTTGGCGCCCCCGGCTCTCTT	0.502000													10	41					6.40141e-05	6.94522e-05	0.010729	1	0
C8orf74	203076	broad.mit.edu	37	8	10555360	10555360	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr8:10555360G>T	ENST00000304519.5	+	3	522	c.493G>T	c.(493-495)Gag>Tag	p.E165*	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	165								p.E165*(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		GTGGATCCACGAGCAGCAGGT	0.677000													26	45					3.1745e-13	4.2485e-13	0.037714	1	0
CTDNEP1	23399	broad.mit.edu	37	17	7150664	7150664	+	Splice_Site	SNP	T	T	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr17:7150664T>A	ENST00000573600.1	-	3	524		c.e3-2		CTDNEP1_ENST00000574322.1_Splice_Site|CTDNEP1_ENST00000318988.6_Splice_Site|CTDNEP1_ENST00000572043.1_Splice_Site|RP1-4G17.5_ENST00000577138.1_Splice_Site			O95476	CNEP1_HUMAN	CTD nuclear envelope phosphatase 1						nuclear envelope organization|protein dephosphorylation	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein serine/threonine phosphatase activity	p.?(1)		central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						CTGAATTACCTACAAATAGCA	0.438000													27	34					0	0	0.024334	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072376	17072376	+	Silent	SNP	C	C	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr22:17072376C>G	ENST00000359963.3	-	1	1324	c.1065G>C	c.(1063-1065)ctG>ctC	p.L355L		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	355					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.L355L(1)		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)				AACCATCTCCCAGCTCCTGCC	0.587000													40	120					0	0	0.048971	0	0
RELN	5649	broad.mit.edu	37	7	103126853	103126853	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr7:103126853G>T	ENST00000428762.1	-	61	9933	c.9774C>A	c.(9772-9774)tgC>tgA	p.C3258*	RELN_ENST00000343529.5_Nonsense_Mutation_p.C3258*|RELN_ENST00000424685.2_Nonsense_Mutation_p.C3258*|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3258	EGF-like 8.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.C3258*(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGAAAACAGAGCAGTCATCAC	0.423000													41	35					3.54561e-26	5.52225e-26	0.036044	1	0
ZNF646	9726	broad.mit.edu	37	16	31092914	31092914	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr16:31092914C>T	ENST00000394979.2	+	1	5692	c.5269C>T	c.(5269-5271)Cgg>Tgg	p.R1757W	ZNF646_ENST00000300850.5_Missense_Mutation_p.R1757W			O15015	ZN646_HUMAN	zinc finger protein 646	1757					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.R1757W(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CCATGCACCCCGGGAGGGGCC	0.692000													19	121					0	0	0.043863	0	0
NEURL1	9148	broad.mit.edu	37	10	105330758	105330758	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr10:105330758C>T	ENST00000369780.4	+	2	624	c.215C>T	c.(214-216)tCc>tTc	p.S72F	NEURL_ENST00000369777.2_Missense_Mutation_p.S55F	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		72	NHR 1.				nervous system development	perinuclear region of cytoplasm	zinc ion binding	p.S72F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		ACCAAGGGCTCCCAGATCCTC	0.637000													65	161					0	0	0.048971	0	0
CANX	821	broad.mit.edu	37	5	179149988	179149988	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr5:179149988G>T	ENST00000247461.4	+	11	1566	c.1366G>T	c.(1366-1368)Ggc>Tgc	p.G456C	CANX_ENST00000415618.2_Missense_Mutation_p.G491C|CANX_ENST00000512607.2_Missense_Mutation_p.G348C|CANX_ENST00000452673.2_Missense_Mutation_p.G456C|CANX_ENST00000504734.1_Missense_Mutation_p.G456C	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	456					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding	p.G456C(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGATGGATGGGGCCTGAAGAA	0.438000													22	129					2.48779e-11	3.15027e-11	0.027356	1	0
SORL1	6653	broad.mit.edu	37	11	121403215	121403215	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr11:121403215G>A	ENST00000260197.7	+	12	1768	c.1639G>A	c.(1639-1641)Gga>Aga	p.G547R	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	547					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	p.G547R(1)		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)		AGACCACGGCGGAATCATCAC	0.483000													4	69					0	0	0.009096	0	0
BAGE2	85319	broad.mit.edu	37	21	11049484	11049484	+	RNA	SNP	G	G	C			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr21:11049484G>C	ENST00000470054.1	-	0	624									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCAGGACATTGCCAACCTGCA	0.438000													9	155					0	0	0.016723	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45127206	45127206	+	RNA	SNP	G	G	C			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr17:45127206G>C	ENST00000575173.1	-	0	418																											GTGAGAGACAGATGGAAAGAC	0.458000													61	135					0	0	0.048971	0	0
TTC37	9652	broad.mit.edu	37	5	94863722	94863722	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr5:94863722C>A	ENST00000358746.2	-	13	1427	c.1129G>T	c.(1129-1131)Gat>Tat	p.D377Y		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	377							binding	p.D377Y(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TCTACCTGATCAAGCGTACGA	0.368000													7	16					0.0293803	0.0301216	0.029380	1	0
GC	2638	broad.mit.edu	37	4	72631270	72631270	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr4:72631270C>A	ENST00000273951.8	-	4	695	c.352G>T	c.(352-354)Gaa>Taa	p.E118*	GC_ENST00000504199.1_Nonsense_Mutation_p.E137*|GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Nonsense_Mutation_p.E118*	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	118	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	p.E118*(1)|p.E137*(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	AGCTTTCGTTCCAGGCCCTCT	0.527000													28	75					5.60225e-13	7.45299e-13	0.041601	1	0
TTN	7273	broad.mit.edu	37	2	179422644	179422644	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr2:179422644A>T	ENST00000589042.1	-	328	87661	c.87437T>A	c.(87436-87438)gTt>gAt	p.V29146D	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V26578D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V20081D|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V20273D|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V20206D|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V27505D|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27505	Fibronectin type-III 112.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V20081D(1)|p.V26578D(1)|p.V20273D(1)|p.V26576D(1)|p.V20206D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCACTAATAACAACAGGGCC	0.433000													45	260					0	0	0.048971	0	0
GABBR1	2550	broad.mit.edu	37	6	29574725	29574725	+	Silent	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr6:29574725G>A	ENST00000377034.4	-	18	2501	c.2166C>T	c.(2164-2166)gtC>gtT	p.V722V	GABBR1_ENST00000377012.4_Silent_p.V605V|GABBR1_ENST00000377016.4_Silent_p.V660V|GABBR1_ENST00000355973.3_Silent_p.V605V|GABBR1_ENST00000376977.3_3'UTR	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	722					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	p.V722V(1)		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)	CGAGAGTGAGGACATCCATGC	0.572000													35	94					0	0	0.023175	0	0
PLGLA	285189	broad.mit.edu	37	2	107007493	107007493	+	RNA	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr2:107007493C>A	ENST00000484422.1	+	0	342																											CTTTCCCTTTCATCTTTGTGT	0.458000													4	11					0.00909568	0.0094115	0.009096	1	0
PTPRN2	5799	broad.mit.edu	37	7	157414082	157414082	+	Silent	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr7:157414082G>T	ENST00000389413.3	-	14	2332	c.2229C>A	c.(2227-2229)ccC>ccA	p.P743P	PTPRN2_ENST00000404321.2_Silent_p.P795P|PTPRN2_ENST00000409483.1_Silent_p.P734P|PTPRN2_ENST00000389416.4_Silent_p.P755P|PTPRN2_ENST00000389418.4_Silent_p.P772P	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	772						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.P772P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGCGGTTCTTGGGCACGTTCT	0.637000													8	537					1.58986e-06	1.79462e-06	0.008291	1	0
POPDC3	64208	broad.mit.edu	37	6	105609367	105609367	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr6:105609367T>G	ENST00000254765.3	-	2	696	c.418A>C	c.(418-420)Aag>Cag	p.K140Q	BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_Intron|BVES-AS1_ENST00000580511.1_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	140						integral to membrane		p.K140Q(1)		NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				CAGTGTTCCTTTTCCAAAGTA	0.453000													54	145					0	0	0.048971	0	0
NLRP7	199713	broad.mit.edu	37	19	55450745	55450745	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr19:55450745G>C	ENST00000588756.1	-	6	1928	c.1442C>G	c.(1441-1443)gCc>gGc	p.A481G	NLRP7_ENST00000592784.1_Missense_Mutation_p.A481G|NLRP7_ENST00000590030.1_Missense_Mutation_p.A481G|NLRP7_ENST00000448121.2_Missense_Mutation_p.A481G|NLRP7_ENST00000446217.1_Missense_Mutation_p.A509G|NLRP7_ENST00000340844.2_Missense_Mutation_p.A481G|NLRP7_ENST00000328092.5_Missense_Mutation_p.A481G			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	481	NACHT.			A -> T (in Ref. 4; AAI09126).			ATP binding	p.A481G(2)		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)		CTTCTCCAGGGCGTAGAACAG	0.592000													41	83					0	0	0.048971	0	0
A1BG	1	broad.mit.edu	37	19	58858921	58858921	+	Silent	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr19:58858921G>T	ENST00000263100.3	-	7	1339	c.1278C>A	c.(1276-1278)ccC>ccA	p.P426P	A1BG_ENST00000596924.1_5'UTR	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	426	Ig-like V-type 5.					extracellular region		p.P426P(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		CGTCGGGGATGGGTCCCTCGC	0.741000													10	16					3.07112e-06	3.44058e-06	0.010729	1	0
BCMO1	53630	broad.mit.edu	37	16	81320986	81320986	+	Silent	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr16:81320986G>A	ENST00000258168.2	+	10	1850	c.1389G>A	c.(1387-1389)gcG>gcA	p.A463A	BCMO1_ENST00000425577.2_Silent_p.A394A	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	463					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity	p.A463A(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						TTGTGCCCGCGCCAGGTGCCA	0.517000													59	102					0	0	0.048971	0	0
NOS1AP	9722	broad.mit.edu	37	1	162313767	162313767	+	Splice_Site	SNP	G	G	C			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:162313767G>C	ENST00000361897.5	+	6	997		c.e6+1		NOS1AP_ENST00000530878.1_Splice_Site	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein						regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	p.?(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GGAGACCCAGGTAGGCACTGC	0.582000													48	31					0	0	0.048971	0	0
SPTB	6710	broad.mit.edu	37	14	65216089	65216089	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr14:65216089G>T	ENST00000389722.3	-	35	6975	c.6922C>A	c.(6922-6924)Ccc>Acc	p.P2308T	SPTB_ENST00000556626.1_Missense_Mutation_p.P2308T|SPTB_ENST00000342835.4_5'UTR	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	0					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.P2308T(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTGGCGTCGGGGCCGGAGAGG	0.652000													8	9					1.58986e-06	1.79462e-06	0.008291	1	0
MYH15	22989	broad.mit.edu	37	3	108159970	108159970	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr3:108159970C>A	ENST00000273353.3	-	24	2909	c.2853G>T	c.(2851-2853)agG>agT	p.R951S		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	951						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.R951S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GTTTCCGCCCCCTGGCAGTCA	0.478000													23	94					1.9806e-07	2.29955e-07	0.014323	1	0
OR5A2	219981	broad.mit.edu	37	11	59190046	59190046	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr11:59190046G>C	ENST00000302040.4	-	1	403	c.381C>G	c.(379-381)atC>atG	p.I127M		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I127M(1)		large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						AGGGGTTGCAGATTGCAGCAT	0.478000													4	52					0	0	0.009096	0	0
NEK9	91754	broad.mit.edu	37	14	75573382	75573382	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr14:75573382C>A	ENST00000238616.5	-	12	1509	c.1351G>T	c.(1351-1353)Gga>Tga	p.G451*		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	451					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity	p.G451*(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		TAATCTGATCCGAAGGCATAG	0.468000													17	40					1.87028e-06	2.10583e-06	0.062417	1	0
TNR	7143	broad.mit.edu	37	1	175324739	175324739	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:175324739C>A	ENST00000367674.1	-	17	3857	c.3149G>T	c.(3148-3150)aGt>aTt	p.S1050I	TNR_ENST00000263525.2_Missense_Mutation_p.S1050I	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1050	Fibronectin type-III 9.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.S1050I(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGTGACTTCACTGGCTGTCAG	0.552000													89	51					3.10586e-51	5.38108e-51	0.048971	1	0
GRM1	2911	broad.mit.edu	37	6	146720730	146720730	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr6:146720730C>A	ENST00000392299.2	+	8	3025	c.2555C>A	c.(2554-2556)aCc>aAc	p.T852N	GRM1_ENST00000361719.2_Missense_Mutation_p.T852N|GRM1_ENST00000492807.2_Missense_Mutation_p.T852N|GRM1_ENST00000355289.4_Missense_Mutation_p.T852N|GRM1_ENST00000282753.1_Missense_Mutation_p.T852N|GRM1_ENST00000507907.1_Missense_Mutation_p.T852N			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	852					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.T852N(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GCCTTCACCACCTCTGATGTT	0.532000													18	54					6.94344e-10	8.57381e-10	0.038395	1	0
STK36	27148	broad.mit.edu	37	2	219562210	219562210	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr2:219562210C>T	ENST00000295709.3	+	24	3065	c.2786C>T	c.(2785-2787)gCc>gTc	p.A929V	STK36_ENST00000440309.1_Missense_Mutation_p.A929V|STK36_ENST00000392105.3_Missense_Mutation_p.A908V|STK36_ENST00000392106.2_Missense_Mutation_p.A908V	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	929					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	p.A929V(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CTGAGCCTGGCCATGGCCACC	0.587000													17	61					0	0	0.038395	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180669	142180669	+	RNA	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr7:142180669G>T	ENST00000390368.2	-	0	255																											TAATGAATCAGCCTCAGCCCC	0.517000													163	287					1.36702e-90	2.43449e-90	0.048971	1	0
SULT1C3	442038	broad.mit.edu	37	2	108881745	108881745	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr2:108881745T>C	ENST00000329106.2	+	7	853	c.853T>C	c.(853-855)Ttt>Ctt	p.F285L		NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	285						cytoplasm	alcohol sulfotransferase activity	p.F285L(1)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						AAATGAAGAATTTGACAAGGA	0.473000													22	56					0	0	0.024334	0	0
HELQ	113510	broad.mit.edu	37	4	84348734	84348734	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr4:84348734C>A	ENST00000295488.3	-	13	2820	c.2658G>T	c.(2656-2658)tgG>tgT	p.W886C	HELQ_ENST00000510985.1_Missense_Mutation_p.W819C	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	886							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.W886C(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGTATATCATCCAATCAGGGT	0.368000								Other identified genes with known or suspected DNA repair function					32	77					3.03874e-20	4.49774e-20	0.059317	1	0
MOXD1	26002	broad.mit.edu	37	6	132695975	132695975	+	Translation_Start_Site	SNP	A	A	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr6:132695975A>T	ENST00000336749.3	-	1	229	c.2T>A	c.(1-3)aTg>aAg	p.M1K	MOXD1_ENST00000367963.3_Intron			Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	0					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		AAAAGAATTCATAGGACCTTT	0.358000													3	9					0	0	0.004672	0	0
TINAG	27283	broad.mit.edu	37	6	54191689	54191689	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr6:54191689T>A	ENST00000259782.4	+	4	695	c.599T>A	c.(598-600)aTg>aAg	p.M200K	TINAG_ENST00000370864.3_Missense_Mutation_p.M182K|TINAG_ENST00000370869.3_Missense_Mutation_p.M196K	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	200					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	p.M200K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CCTAGTCCCATGCTCCTGAGC	0.393000													39	67					0	0	0.036044	0	0
ATP8A2	51761	broad.mit.edu	37	13	26148945	26148945	+	Splice_Site	SNP	G	G	C			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr13:26148945G>C	ENST00000381655.2	+	19	1804		c.e19-1		ATP8A2_ENST00000255283.8_Splice_Site|ATP8A2_ENST00000491840.1_Splice_Site	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2						ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.?(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TCTTCCTTTAGATGGGACAGG	0.333000													22	41					0	0	0.027356	0	0
TAGLN2	8407	broad.mit.edu	37	1	159888698	159888698	+	Silent	SNP	A	A	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:159888698A>G	ENST00000368097.4	-	5	802	c.492T>C	c.(490-492)gaT>gaC	p.D164D	TAGLN2_ENST00000320307.4_Silent_p.D164D|TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000368096.1_Silent_p.D185D	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	164					muscle organ development	nuclear membrane|plasma membrane	protein binding	p.D164D(1)		endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCAGCTGGTTATCCGAGAAGT	0.567000													34	256					0	0	0.021022	0	0
SLC22A11	55867	broad.mit.edu	37	11	64331815	64331815	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr11:64331815A>T	ENST00000301891.4	+	5	1231	c.857A>T	c.(856-858)aAg>aTg	p.K286M	SLC22A11_ENST00000490834.1_Intron|SLC22A11_ENST00000377581.3_Missense_Mutation_p.K286M|SLC22A11_ENST00000377585.3_Missense_Mutation_p.K286M	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	286					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	p.K286M(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	CTGATTATTAAGGGCAAACCA	0.587000													26	79					0	0	0.037714	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													4	86					0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179610734	179610734	+	Silent	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr2:179610734G>T	ENST00000360870.5	-	46	16615	c.16393C>A	c.(16393-16395)Cgg>Agg	p.R5465R	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8972	Ig-like 35.						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)			AGGAATCCCCGACAGATAGCC	0.408000													36	92					1.04594e-18	1.52291e-18	0.025465	1	0
TENM2	57451	broad.mit.edu	37	5	167674480	167674480	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr5:167674480A>G	ENST00000519204.1	+	26	6291	c.6173A>G	c.(6172-6174)tAt>tGt	p.Y2058C	TENM2_ENST00000545108.1_Missense_Mutation_p.Y2178C|TENM2_ENST00000518659.1_Missense_Mutation_p.Y2179C|TENM2_ENST00000403607.2_Missense_Mutation_p.Y2003C|TENM2_ENST00000520394.1_Missense_Mutation_p.Y1940C					teneurin transmembrane protein 2									p.Y2179C(1)|p.Y2058C(1)|p.Y2012C(1)									ACGGTGCAATATGACAGCATG	0.552000													24	71					0	0	0.027356	0	0
DIS3L2	129563	broad.mit.edu	37	2	233075098	233075098	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr2:233075098G>T	ENST00000325385.7	+	10	1463	c.1187G>T	c.(1186-1188)tGc>tTc	p.C396F	DIS3L2_ENST00000273009.6_Missense_Mutation_p.C396F|DIS3L2_ENST00000409307.1_Missense_Mutation_p.C396F	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	396							exonuclease activity|ribonuclease activity|RNA binding	p.C396F(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GCCCTCTCCTGCAAGCCACTC	0.507000													19	57					6.32553e-13	8.39024e-13	0.024334	1	0
ATP8B2	57198	broad.mit.edu	37	1	154317977	154317977	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:154317977A>T	ENST00000368489.3	+	23	2749	c.2749A>T	c.(2749-2751)Atg>Ttg	p.M917L		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	903					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.M917L(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGCTTTCACCATGGTCCACTT	0.493000											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	81	1156					0	0	0.048971	0	0
OR51D1	390038	broad.mit.edu	37	11	4661752	4661752	+	Silent	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr11:4661752G>T	ENST00000357605.2	+	1	808	c.732G>T	c.(730-732)cgG>cgT	p.R244R		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R244R(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTCCTCTCGGAGGGCAGCAC	0.527000													65	151					1.7104e-27	2.71116e-27	0.048971	1	0
SON	6651	broad.mit.edu	37	21	34922564	34922564	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr21:34922564C>T	ENST00000356577.4	+	3	1502	c.1027C>T	c.(1027-1029)Cct>Tct	p.P343S	SON_ENST00000300278.4_Missense_Mutation_p.P343S|SON_ENST00000381679.4_Missense_Mutation_p.P343S|SON_ENST00000290239.6_Missense_Mutation_p.P343S|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	343					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	p.P343S(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GCCAGAGCAGCCTGTAGACGT	0.517000											OREG0003564	type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	49	101					0	0	0.048971	0	0
RAD21	5885	broad.mit.edu	37	8	117868465	117868465	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr8:117868465G>C	ENST00000297338.2	-	8	1164	c.877C>G	c.(877-879)Caa>Gaa	p.Q293E		NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	293	Interaction with WAPAL and PDS5B.				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	p.Q293E(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					AGTGTTGTTTGATCAGTCATG	0.363000													3	73					0	0	0.004672	0	0
POTED	317754	broad.mit.edu	37	21	14983042	14983042	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr21:14983042G>T	ENST00000299443.5	+	1	545	c.493G>T	c.(493-495)Gac>Tac	p.D165Y		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	165						plasma membrane		p.D165Y(1)		central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						CAGGGACACTGACATGAACAA	0.577000													18	106					2.48779e-11	3.15027e-11	0.027356	1	0
ADAM9	8754	broad.mit.edu	37	8	38884248	38884248	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr8:38884248G>T	ENST00000487273.2	+	11	1127	c.1049G>T	c.(1048-1050)gGt>gTt	p.G350V		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	350	Peptidase M12B.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	p.G350V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			CATGAATTGGGTCATAATCTT	0.423000													49	102					3.76525e-18	5.39444e-18	0.048971	1	0
USP48	84196	broad.mit.edu	37	1	22083110	22083110	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:22083110C>T	ENST00000308271.9	-	3	989	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	USP48_ENST00000400301.1_Missense_Mutation_p.R114Q|USP48_ENST00000529637.1_Missense_Mutation_p.R114Q|USP48_ENST00000421625.2_Missense_Mutation_p.R114Q	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	114					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.R114Q(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		GAGTGCCTGCCGAAGCTCCAA	0.468000													31	157					0	0	0.034045	0	0
SERPINE1	5054	broad.mit.edu	37	7	100771819	100771819	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr7:100771819G>T	ENST00000223095.4	+	2	302	c.145G>T	c.(145-147)Gcc>Tcc	p.A49S	SERPINE1_ENST00000445463.2_Missense_Mutation_p.A34S	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	49					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	p.A49S(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	GGTGGCGCAGGCCTCCAAGGA	0.602000													31	49					2.08457e-15	2.87593e-15	0.045705	1	0
USP54	159195	broad.mit.edu	37	10	75258547	75258547	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr10:75258547C>T	ENST00000339859.4	-	23	4995	c.4895G>A	c.(4894-4896)cGa>cAa	p.R1632Q	RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000428547.1_Missense_Mutation_p.R1482Q|USP54_ENST00000422491.2_Missense_Mutation_p.R767Q|RP11-137L10.6_ENST00000442133.3_RNA|USP54_ENST00000394811.2_Missense_Mutation_p.R673Q|RP11-137L10.6_ENST00000596320.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000600607.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000600887.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000595935.1_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.R1632Q			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1632					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	p.R1632Q(1)|p.R715Q(1)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					ATCTACTCTTCGAGGACCAGG	0.517000													15	117					0	0	0.024245	0	0
OLA1	29789	broad.mit.edu	37	2	175111467	175111467	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr2:175111467C>A	ENST00000284719.3	-	2	323	c.77G>T	c.(76-78)gGt>gTt	p.G26V	OLA1_ENST00000428402.2_Missense_Mutation_p.G26V|OLA1_ENST00000344357.5_Intron|OLA1_ENST00000409546.1_Missense_Mutation_p.G46V	NM_013341.3	NP_037473.3	Q9NTK5	OLA1_HUMAN	Obg-like ATPase 1	26					ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding	p.G26V(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						TCCAACAATACCAATTTTCAG	0.398000													31	100					1.45844e-13	1.96362e-13	0.054565	1	0
ADAM2	2515	broad.mit.edu	37	8	39624713	39624713	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr8:39624713C>A	ENST00000265708.4	-	13	1373	c.1270G>T	c.(1270-1272)Ggt>Tgt	p.G424C	ADAM2_ENST00000379853.2_Missense_Mutation_p.G298C|ADAM2_ENST00000347580.4_Missense_Mutation_p.G405C|ADAM2_ENST00000521880.1_Missense_Mutation_p.G424C	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	424	Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.G424C(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CAGTTTGAACCGGCTTTAAAT	0.358000													65	161					5.96624e-29	9.55882e-29	0.048971	1	0
FAT4	79633	broad.mit.edu	37	4	126239750	126239750	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr4:126239750A>G	ENST00000394329.3	+	1	2197	c.2184A>G	c.(2182-2184)atA>atG	p.I728M		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	728	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I728M(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AATATAGCATATCTGCTGGGG	0.468000													20	92					0	0	0.062417	0	0
FBXO18	84893	broad.mit.edu	37	10	5955787	5955787	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr10:5955787C>T	ENST00000379999.5	+	8	1546	c.1442C>T	c.(1441-1443)cCa>cTa	p.P481L	FBXO18_ENST00000362091.4_Missense_Mutation_p.P430L|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000379994.1_Missense_Mutation_p.P167L	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	430					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.P481L(1)		NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						AAAGAGGAGCCATCTGTCTGG	0.413000													33	54					0	0	0.050027	0	0
OR2AG1	144125	broad.mit.edu	37	11	6806427	6806427	+	Silent	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr11:6806427C>A	ENST00000307401.4	+	1	180	c.159C>A	c.(157-159)gcC>gcA	p.A53A		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.(=)(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCATGGAAGCCCGGCTCCACA	0.542000													79	160					2.02726e-29	3.25966e-29	0.048971	1	0
IMPG2	50939	broad.mit.edu	37	3	100963143	100963143	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr3:100963143C>A	ENST00000193391.7	-	13	2219	c.2032G>T	c.(2032-2034)Gag>Tag	p.E678*		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	678					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	p.E678*(1)		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						GGCTCTTCCTCTGGAAAGTGT	0.448000													17	25					9.16793e-09	1.1046e-08	0.033300	1	0
LRBA	987	broad.mit.edu	37	4	151773298	151773298	+	Silent	SNP	T	T	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr4:151773298T>A	ENST00000535741.1	-	23	4037	c.3564A>T	c.(3562-3564)tcA>tcT	p.S1188S	LRBA_ENST00000507224.1_Silent_p.S1188S|LRBA_ENST00000357115.3_Silent_p.S1188S|LRBA_ENST00000510413.1_Silent_p.S1188S			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1188						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	p.S1188S(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GTGACATAGCTGAAGACCCTG	0.398000													18	47					0	0	0.055883	0	0
DNAH17	8632	broad.mit.edu	37	17	76567765	76567765	+	Silent	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr17:76567765G>T	ENST00000389840.5	-	4	763	c.639C>A	c.(637-639)gcC>gcA	p.A213A	DNAH17_ENST00000585328.1_Silent_p.A213A					dynein, axonemal, heavy chain 17									p.A213A(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCAGCGCCTGGGCTGAGTCTT	0.592000													29	156					6.04164e-23	9.1237e-23	0.045705	1	0
ZNF142	7701	broad.mit.edu	37	2	219503486	219503486	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr2:219503486C>A	ENST00000411696.2	-	9	5419	c.4640G>T	c.(4639-4641)cGg>cTg	p.R1547L	ZNF142_ENST00000449707.1_Missense_Mutation_p.R1547L			P52746	ZN142_HUMAN	zinc finger protein 142	1547					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R1384L(1)|p.R1547L(1)		breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGCATCAGCCCGGTTGGTGCA	0.572000													12	32					1.02788e-11	1.33565e-11	0.033300	1	0
RFX3	5991	broad.mit.edu	37	9	3263012	3263012	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr9:3263012G>C	ENST00000382004.3	-	14	1839	c.1528C>G	c.(1528-1530)Cgt>Ggt	p.R510G	RFX3_ENST00000358730.2_Missense_Mutation_p.R510G|RFX3_ENST00000302303.1_Missense_Mutation_p.R510G	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	510					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	p.R510G(2)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		AGCACTGCACGAGCTGCCTGG	0.493000													38	61					0	0	0.027894	0	0
UTRN	7402	broad.mit.edu	37	6	144844318	144844318	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr6:144844318G>T	ENST00000367545.3	+	40	5900	c.5900G>T	c.(5899-5901)cGg>cTg	p.R1967L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1967					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.R1967L(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TACAGTGATCGGAAAGGGTAT	0.378000													23	32					4.26978e-12	5.59704e-12	0.018920	1	0
SUPT6H	6830	broad.mit.edu	37	17	27011938	27011938	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr17:27011938A>T	ENST00000314616.6	+	19	2729	c.2446A>T	c.(2446-2448)Aaa>Taa	p.K816*	SUPT6H_ENST00000347486.4_Nonsense_Mutation_p.K816*	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	816					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	p.K816*(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CCATTTTACCAAACGGCGAAC	0.493000													47	49					0	0	0.048971	0	0
DCAF16	54876	broad.mit.edu	37	4	17805366	17805366	+	Silent	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr4:17805366C>A	ENST00000382247.1	-	3	1459	c.399G>T	c.(397-399)cgG>cgT	p.R133R	DCAF16_ENST00000536863.1_Silent_p.R133R	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	133						CUL4 RING ubiquitin ligase complex		p.R133R(1)		cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						CTCTAGAGAGCCGGCTGGGAC	0.502000													75	144					1.32764e-51	2.30916e-51	0.048971	1	0
SLC51A	200931	broad.mit.edu	37	3	195953990	195953990	+	Splice_Site	SNP	G	G	A	rs139345051		TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr3:195953990G>A	ENST00000296327.5	+	3	497	c.288_splice	c.e3+1	p.T96_splice		NM_152672.5	NP_689885.4			solute carrier family 51, alpha subunit									p.T96T(1)									CGGCACCCACGGTGAGGCCCC	0.577000													21	103					0	0	0.027356	0	0
PRRC2B	84726	broad.mit.edu	37	9	134334625	134334625	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr9:134334625G>C	ENST00000357304.4	+	10	1341	c.1286G>C	c.(1285-1287)cGa>cCa	p.R429P	PRRC2B_ENST00000458550.1_Missense_Mutation_p.R429P|PRRC2B_ENST00000405995.1_Missense_Mutation_p.R429P|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	429							protein binding	p.R429P(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AAGCGGACTCGAGAGGAAGGG	0.592000													39	111					0	0	0.039052	0	0
ARMC5	79798	broad.mit.edu	37	16	31476156	31476156	+	Silent	SNP	T	T	C			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr16:31476156T>C	ENST00000457010.2	+	4	2513	c.1812T>C	c.(1810-1812)gaT>gaC	p.D604D	ARMC5_ENST00000563544.1_Silent_p.D604D|ARMC5_ENST00000408912.3_Silent_p.D699D|ARMC5_ENST00000538189.1_Silent_p.D636D|ARMC5_ENST00000268314.4_Silent_p.D604D|ARMC5_ENST00000412665.2_Silent_p.D248D	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	604							binding	p.D699D(1)|p.D604D(1)		central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CGCCTGACGATTGGCCGGCAC	0.701000													8	10					0	0	0.013537	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072228	17072228	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr22:17072228C>G	ENST00000359963.3	-	1	1472	c.1213G>C	c.(1213-1215)Gat>Cat	p.D405H		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	405					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.D405H(1)		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)				AGTCTGGGATCTTGACATAGC	0.557000													34	60					0	0	0.064281	0	0
GPS1	2873	broad.mit.edu	37	17	80011904	80011904	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr17:80011904G>A	ENST00000392358.2	+	3	756	c.407G>A	c.(406-408)cGc>cAc	p.R136H	GPS1_ENST00000320548.4_Missense_Mutation_p.R80H|GPS1_ENST00000306823.6_Missense_Mutation_p.R96H|GPS1_ENST00000578552.1_Missense_Mutation_p.R96H|GPS1_ENST00000355130.2_Missense_Mutation_p.R136H	NM_212492.1	NP_997657.1	Q13098	CSN1_HUMAN	G protein pathway suppressor 1	96					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding	p.R136H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GAGATCCACCGCAAGCTCTCA	0.632000													25	21					0	0	0.037714	0	0
NOV	4856	broad.mit.edu	37	8	120431528	120431528	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr8:120431528G>T	ENST00000259526.3	+	4	947	c.720G>T	c.(718-720)caG>caT	p.Q240H		NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	nephroblastoma overexpressed	240	TSP type-1.				regulation of cell growth		growth factor activity|insulin-like growth factor binding	p.Q240H(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGCTGAAACAGACTCGGCTCT	0.547000													51	151					1.27334e-21	1.91e-21	0.048971	1	0
KCNK17	89822	broad.mit.edu	37	6	39278775	39278775	+	Silent	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr6:39278775G>A	ENST00000453413.2	-	2	386	c.246C>T	c.(244-246)gtC>gtT	p.V82V	KCNK17_ENST00000373231.4_Silent_p.V82V	NM_001135111.1	NP_001128583.1	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	82						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.V82V(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						TGTATGCTTGGACGACATCCT	0.562000													43	122					0	0	0.039052	0	0
CSF1R	1436	broad.mit.edu	37	5	149435795	149435795	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr5:149435795A>G	ENST00000286301.3	-	18	2720	c.2429T>C	c.(2428-2430)aTt>aCt	p.I810T		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	810	Protein kinase.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	p.I810T(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GCCCTTGACAATGTAGTTGGA	0.592000													78	113					0	0	0.048971	0	0
SPTA1	6708	broad.mit.edu	37	1	158615031	158615031	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:158615031C>A	ENST00000368148.3	-	29	4321	c.4141G>T	c.(4141-4143)Gag>Tag	p.E1381*	SPTA1_ENST00000368147.3_Nonsense_Mutation_p.E1381*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1381					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.E1381*(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAAGCCTTCTCCAAATCATCT	0.448000													144	140					1.97865e-72	3.48211e-72	0.048971	1	0
TRPA1	8989	broad.mit.edu	37	8	72984007	72984007	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr8:72984007A>T	ENST00000262209.4	-	2	414	c.207T>A	c.(205-207)taT>taA	p.Y69*		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	69						integral to plasma membrane		p.Y69*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CTGCTGCAGCATAATGCAAGA	0.353000													8	28					0	0	0.047766	0	0
OR10J3	441911	broad.mit.edu	37	1	159284169	159284169	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:159284169G>A	ENST00000332217.5	-	1	280	c.281C>T	c.(280-282)gCc>gTc	p.A94V		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A94V(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GCTTTGGGTGGCAATGGGCTG	0.498000													8	142					0	0	0.038147	0	0
DNAH17	8632	broad.mit.edu	37	17	76525628	76525628	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr17:76525628G>A	ENST00000389840.5	-	22	3557	c.3433C>T	c.(3433-3435)Ccc>Tcc	p.P1145S	DNAH17_ENST00000585328.1_Missense_Mutation_p.P1142S					dynein, axonemal, heavy chain 17									p.P1142S(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGCTTCAGGGGCTCAAACATG	0.582000													5	335					0	0	0.021553	0	0
ZNF483	158399	broad.mit.edu	37	9	114305028	114305028	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr9:114305028A>G	ENST00000309235.5	+	6	1971	c.1813A>G	c.(1813-1815)Aaa>Gaa	p.K605E	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	605					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K605E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						CACTGGAGAAAAACCATATTT	0.378000													22	31					0	0	0.014323	0	0
MROH2B	133558	broad.mit.edu	37	5	41004553	41004553	+	Silent	SNP	A	A	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr5:41004553A>G	ENST00000399564.4	-	37	4539	c.4089T>C	c.(4087-4089)tgT>tgC	p.C1363C	MROH2B_ENST00000506092.2_Silent_p.C918C	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.C1363C(1)									TCAAGCTTTCACAGACGACTT	0.423000													32	91					0	0	0.050027	0	0
MS4A4A	51338	broad.mit.edu	37	11	60064740	60064740	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr11:60064740C>T	ENST00000355131.3	+	4	438	c.215C>T	c.(214-216)aCt>aTt	p.T72I	MS4A4A_ENST00000395016.3_Missense_Mutation_p.T72I|MS4A4A_ENST00000532114.1_Missense_Mutation_p.T91I|MS4A4A_ENST00000337908.4_Missense_Mutation_p.T91I	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	91						integral to membrane	receptor activity	p.T72I(1)|p.T91I(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						GCATCTAATACTTATGGAAGT	0.373000													13	39					0	0	0.016723	0	0
MKRN3	7681	broad.mit.edu	37	15	23811308	23811308	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr15:23811308G>T	ENST00000314520.3	+	1	855	c.379G>T	c.(379-381)Gcc>Tcc	p.A127S	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	127						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.A127S(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TCGGAAGATGGCCACTGAGGG	0.602000													48	87					2.43468e-25	3.73987e-25	0.048971	1	0
TRBV7-3	28595	broad.mit.edu	37	7	142247218	142247218	+	RNA	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr7:142247218G>T	ENST00000390361.3	-	0	287																											CGATCGTTGGGCAGCCCTGAG	0.572000													38	33					2.87052e-16	4.03498e-16	0.023175	1	0
CSMD3	114788	broad.mit.edu	37	8	113702259	113702259	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr8:113702259C>G	ENST00000297405.5	-	14	2237	c.1993G>C	c.(1993-1995)Ggt>Cgt	p.G665R	CSMD3_ENST00000352409.3_Missense_Mutation_p.G665R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G625R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G561R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	665	Sushi 3.					integral to membrane|plasma membrane		p.G665R(1)|p.G625R(1)		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						CCAGGATCACCACAACTTTCT	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			40	60					0	0	0.027894	0	0
OR10J1	26476	broad.mit.edu	37	1	159410018	159410018	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:159410018T>A	ENST00000423932.3	+	1	507	c.470T>A	c.(469-471)cTg>cAg	p.L157Q	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	157					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	p.L157Q(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CAACTTGTCCTGGGGGCCTGC	0.498000													150	116					0	0	0.048971	0	0
KLHL1	57626	broad.mit.edu	37	13	70413137	70413137	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr13:70413137T>C	ENST00000377844.4	-	6	2144	c.1385A>G	c.(1384-1386)tAt>tGt	p.Y462C	KLHL1_ENST00000545028.1_Missense_Mutation_p.Y269C	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	462					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.Y462C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TCCTACAGCATACAAAGTTCC	0.348000													4	7					0	0	0.009096	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073395	17073395	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr22:17073395C>T	ENST00000359963.3	-	1	305	c.46G>A	c.(46-48)Gca>Aca	p.A16T		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	16					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.A16T(1)		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)				GGGTTCAGTGCCAGCCGCTGG	0.647000													20	46					0	0	0.018920	0	0
FST	10468	broad.mit.edu	37	5	52778792	52778792	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr5:52778792C>A	ENST00000396947.3	+	2	334	c.168C>A	c.(166-168)tgC>tgA	p.C56*	FST_ENST00000256759.3_Nonsense_Mutation_p.C56*	NM_006350.3	NP_006341.1	P19883	FST_HUMAN	follistatin	56	TB.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity	p.C56*(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				AGGAGTGCTGCAGCACCGGCC	0.597000											OREG0016608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	43					3.1745e-13	4.2485e-13	0.037714	1	0
GPR155	151556	broad.mit.edu	37	2	175300882	175300882	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr2:175300882C>T	ENST00000392552.2	-	16	2813	c.2575G>A	c.(2575-2577)Gag>Aag	p.E859K	GPR155_ENST00000295500.4_Missense_Mutation_p.E859K|GPR155_ENST00000392551.2_Missense_Mutation_p.E859K	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	859					intracellular signal transduction|transmembrane transport	integral to membrane		p.E859K(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						GATGAATGCTCAATTTCTTTA	0.403000													4	164					0	0	0.009096	0	0
MDGA2	161357	broad.mit.edu	37	14	47504503	47504503	+	Silent	SNP	T	T	A	rs146423621	by1000genomes	TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr14:47504503T>A	ENST00000426342.1	-	8	1382	c.636A>T	c.(634-636)ccA>ccT	p.P212P	MDGA2_ENST00000439988.2_Silent_p.P441P|MDGA2_ENST00000399232.2_Silent_p.P510P|MDGA2_ENST00000357362.3_Silent_p.P212P	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	441	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.P212P(2)|p.P510P(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TCAGATTGGGTGGAACTTGAA	0.373000													24	44					0	0	0.021523	0	0
TJP1	7082	broad.mit.edu	37	15	30010701	30010701	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr15:30010701C>A	ENST00000346128.6	-	21	4119	c.3645G>T	c.(3643-3645)gaG>gaT	p.E1215D	TJP1_ENST00000356107.6_Missense_Mutation_p.E1215D|TJP1_ENST00000545208.2_Missense_Mutation_p.E1135D|TJP1_ENST00000400011.2_Missense_Mutation_p.E1139D	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1215					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		p.E1215D(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CATGGAGAGGCTCAAAATGAC	0.522000													13	67					7.93312e-07	9.02317e-07	0.020292	1	0
BNC2	54796	broad.mit.edu	37	9	16436214	16436214	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr9:16436214G>T	ENST00000380672.4	-	6	2035	c.1978C>A	c.(1978-1980)Ccc>Acc	p.P660T	BNC2_ENST00000380666.2_Missense_Mutation_p.P660T|BNC2_ENST00000380667.2_Missense_Mutation_p.P593T|BNC2_ENST00000545497.1_Missense_Mutation_p.P565T	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	660					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	p.P660T(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CCATCATTGGGGTCATCATCT	0.468000													11	76					0.00010058	0.000108075	0.013537	1	0
RPAP2	79871	broad.mit.edu	37	1	92789591	92789591	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:92789591G>C	ENST00000370343.3	+	8	1223	c.1114G>C	c.(1114-1116)Gag>Cag	p.E372Q	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	372						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	p.E372Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AGTTTTGAAGGAGACTTTGAT	0.403000													17	89					0	0	0.038395	0	0
ARID3C	138715	broad.mit.edu	37	9	34627853	34627853	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr9:34627853C>A	ENST00000378909.2	-	1	251	c.159G>T	c.(157-159)gaG>gaT	p.E53D		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	53	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.E53D(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		cagcatcttcctcttcctcAG	0.682000													9	9					0.00621372	0.00650476	0.058154	1	0
ANLN	54443	broad.mit.edu	37	7	36483457	36483457	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr7:36483457G>A	ENST00000265748.2	+	22	3285	c.3064G>A	c.(3064-3066)Gat>Aat	p.D1022N	ANLN_ENST00000396068.2_Missense_Mutation_p.D985N	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	1022	Localization to the cleavage furrow.|PH.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	p.D1022N(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TTATCCAGATGATGAGAAACG	0.408000													11	13					0	0	0.010729	0	0
OGT	8473	broad.mit.edu	37	X	70774416	70774416	+	Silent	SNP	C	C	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chrX:70774416C>G	ENST00000373719.3	+	6	919	c.702C>G	c.(700-702)gtC>gtG	p.V234V	OGT_ENST00000373701.3_Silent_p.V224V	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	234					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	p.V234V(1)|p.V224V(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TAGGAAATGTCTTGAAAGAGG	0.358000													3	69					0	0	0.009096	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29974314	29974314	+	RNA	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr6:29974314G>T	ENST00000376797.3	-	0	1346				ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA																							AGCGTCGCGCGGCCCCGGTTC	0.657000													9	11					0.000673444	0.000715034	0.008291	1	0
TLL2	7093	broad.mit.edu	37	10	98273371	98273371	+	Silent	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr10:98273371C>A	ENST00000357947.3	-	1	297	c.72G>T	c.(70-72)ggG>ggT	p.G24G	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	24					cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.G24G(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CCCCGAGTCCCCCGGCGCCGC	0.726000													16	22					3.45872e-05	3.78007e-05	0.028581	1	0
CUL3	8452	broad.mit.edu	37	2	225376300	225376300	+	Splice_Site	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr2:225376300C>T	ENST00000264414.4	-	6	993		c.e6-1		CUL3_ENST00000409777.1_Splice_Site|CUL3_ENST00000344951.4_Splice_Site|CUL3_ENST00000409096.1_Splice_Site	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3						cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	p.?(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GGCTTTCCATCTGCCatttaa	0.289000													17	31					0	0	0.028581	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072155	17072155	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr22:17072155C>T	ENST00000359963.3	-	1	1545	c.1286G>A	c.(1285-1287)aGa>aAa	p.R429K		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	429					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.R429K(1)		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)				CCCTTCCAATCTGCTTCCTTT	0.488000													40	79					0	0	0.042209	0	0
SCN3A	6328	broad.mit.edu	37	2	165997321	165997321	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr2:165997321C>T	ENST00000360093.3	-	13	2350	c.1859G>A	c.(1858-1860)cGa>cAa	p.R620Q	SCN3A_ENST00000283254.7_Missense_Mutation_p.R620Q|SCN3A_ENST00000409101.3_Missense_Mutation_p.R620Q	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	620						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R620Q(4)		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)	ACTGTTGCGTCGCTCTCCATG	0.498000													18	50					0	0	0.043863	0	0
SPOCK3	50859	broad.mit.edu	37	4	167656177	167656177	+	Silent	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr4:167656177C>T	ENST00000357154.3	-	12	1343	c.1206G>A	c.(1204-1206)gaG>gaA	p.E402E	SPOCK3_ENST00000504953.1_Silent_p.E399E|SPOCK3_ENST00000541637.1_Silent_p.E304E|SPOCK3_ENST00000511269.1_Silent_p.E399E|SPOCK3_ENST00000541354.1_Silent_p.E282E|SPOCK3_ENST00000535728.1_Silent_p.E270E|SPOCK3_ENST00000502330.1_Silent_p.E402E|SPOCK3_ENST00000534949.1_Silent_p.E306E|SPOCK3_ENST00000510741.1_Silent_p.E359E|SPOCK3_ENST00000421836.2_Silent_p.E351E|SPOCK3_ENST00000357545.4_Silent_p.E399E|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Silent_p.E304E|SPOCK3_ENST00000506886.1_Silent_p.E402E|SPOCK3_ENST00000511531.1_Silent_p.E402E	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	402	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	p.E399E(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		cttcatcatcctcatcatcag	0.353000													4	6					0	0	0.014758	0	0
ZBBX	79740	broad.mit.edu	37	3	167068302	167068302	+	Splice_Site	SNP	A	A	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr3:167068302A>T	ENST00000392766.2	-	9	774	c.432_splice	c.e9-1	p.V145_splice	ZBBX_ENST00000307529.5_Splice_Site_p.V145_splice|ZBBX_ENST00000455345.2_Splice_Site_p.V145_splice|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392767.2_Splice_Site_p.V145_splice|ZBBX_ENST00000392764.1_Splice_Site_p.V116_splice	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	145						intracellular	zinc ion binding	p.V145E(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTCAAGGCATACCTAAAAAGa	0.299000													16	30					0	0	0.024245	0	0
PRSS36	146547	broad.mit.edu	37	16	31154786	31154786	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr16:31154786C>A	ENST00000268281.4	-	8	1035	c.977G>T	c.(976-978)gGg>gTg	p.G326V	PRSS36_ENST00000569305.1_Missense_Mutation_p.G326V|PRSS36_ENST00000418068.2_Missense_Mutation_p.G326V	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	326	Peptidase S1 2.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	p.G326V(1)		kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CGGGGCCTTCCCGCACTCTGA	0.657000													56	114					1.19403e-26	1.87275e-26	0.048971	1	0
KIAA1755	85449	broad.mit.edu	37	20	36868046	36868046	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr20:36868046G>A	ENST00000279024.4	-	4	1902	c.1631C>T	c.(1630-1632)gCt>gTt	p.A544V		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	544								p.A544V(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GCCTGCAGAAGCTTCTGGCAA	0.602000													37	116					0	0	0.042209	0	0
PDE6B	5158	broad.mit.edu	37	4	647926	647926	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr4:647926C>A	ENST00000255622.6	+	5	953	c.910C>A	c.(910-912)Cgc>Agc	p.R304S	PDE6B_ENST00000429163.2_Missense_Mutation_p.R25S|RP11-1191J2.2_ENST00000489312.1_RNA|RP11-1191J2.2_ENST00000468356.1_RNA|PDE6B_ENST00000496514.1_Missense_Mutation_p.R304S	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	304	GAF 2.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.R304S(1)		NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CTCGGGCCCACGCACGCCTGA	0.642000													21	49					8.16277e-20	1.20025e-19	0.027894	1	0
EHBP1L1	254102	broad.mit.edu	37	11	65349621	65349621	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr11:65349621G>A	ENST00000309295.4	+	9	1743	c.1478G>A	c.(1477-1479)gGt>gAt	p.G493D		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	493								p.G493D(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGGCAACTTGGTGACCTCGAG	0.682000													7	25					0	0	0.010729	0	0
LHFPL1	340596	broad.mit.edu	37	X	111874652	111874652	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chrX:111874652G>T	ENST00000371968.3	-	4	898	c.659C>A	c.(658-660)cCt>cAt	p.P220H	LHFPL1_ENST00000478229.1_5'UTR|LHFPL1_ENST00000536453.1_Missense_Mutation_p.P187H	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	220						integral to membrane		p.P220H(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						CAAAGCTCAAGGTTTGAGGCA	0.463000													40	38					1.41504e-22	2.1297e-22	0.042209	1	0
MYF6	4618	broad.mit.edu	37	12	81101854	81101854	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr12:81101854G>A	ENST00000228641.3	+	1	578	c.356G>A	c.(355-357)cGa>cAa	p.R119Q		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	119	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	p.R119Q(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CTGAAGCGGCGAACTGTGGCC	0.597000													36	101					0	0	0.039052	0	0
COL4A5	1287	broad.mit.edu	37	X	107814662	107814662	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chrX:107814662G>T	ENST00000328300.6	+	7	648	c.404G>T	c.(403-405)gGc>gTc	p.G135V	COL4A5_ENST00000361603.2_Missense_Mutation_p.G135V	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	135	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.G135V(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						GGATTTCCAGGCAGTCCCGGT	0.373000									Alport syndrome with Diffuse Leiomyomatosis				64	33					3.39796e-24	5.20167e-24	0.048971	1	0
C1orf216	127703	broad.mit.edu	37	1	36181806	36181806	+	Silent	SNP	G	G	C			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:36181806G>C	ENST00000270815.4	-	2	887	c.117C>G	c.(115-117)gcC>gcG	p.A39A	C1orf216_ENST00000503824.1_5'UTR	NM_152374.1	NP_689587.1	Q8TAB5	CA216_HUMAN	chromosome 1 open reading frame 216	39								p.A39A(1)		kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TAGCATCCTTGGCACTTGCCA	0.577000											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	113					0	0	0.024334	0	0
KIF6	221458	broad.mit.edu	37	6	39330242	39330242	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr6:39330242C>A	ENST00000287152.7	-	17	2008	c.1914G>T	c.(1912-1914)aaG>aaT	p.K638N	KIF6_ENST00000541946.1_Missense_Mutation_p.K89N|KIF6_ENST00000373215.3_Missense_Mutation_p.K621N|KIF6_ENST00000229913.5_Missense_Mutation_p.K89N|KIF6_ENST00000373213.4_Missense_Mutation_p.K477N|KIF6_ENST00000373216.3_Missense_Mutation_p.K638N|KIF6_ENST00000538893.1_Missense_Mutation_p.K582N|KIF6_ENST00000394362.1_Missense_Mutation_p.K89N	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	638					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	p.K638N(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GTGATCGCAGCTTCTCCTCCT	0.547000											OREG0017415	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	45	224					6.27289e-28	9.97858e-28	0.048971	1	0
BRINP2	57795	broad.mit.edu	37	1	177226496	177226496	+	Silent	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:177226496C>A	ENST00000361539.4	+	4	957	c.645C>A	c.(643-645)atC>atA	p.I215I	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		215						extracellular region		p.I215I(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TGCACCATATCCAGATAGCCA	0.612000													33	21					1.56738e-10	1.96803e-10	0.019004	1	0
PLXNA4	91584	broad.mit.edu	37	7	131888169	131888169	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr7:131888169C>A	ENST00000359827.3	-	11	3270	c.2308G>T	c.(2308-2310)Gaa>Taa	p.E770*	PLXNA4_ENST00000321063.4_Nonsense_Mutation_p.E770*			Q9HCM2	PLXA4_HUMAN	plexin A4	770						integral to membrane|intracellular|plasma membrane		p.E770*(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCCATCCCTTCATAGGAATAC	0.522000													4	138					0.00909568	0.0094115	0.009096	1	0
TNR	7143	broad.mit.edu	37	1	175372653	175372653	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:175372653G>A	ENST00000367674.1	-	4	1307	c.599C>T	c.(598-600)tCg>tTg	p.S200L	TNR_ENST00000263525.2_Missense_Mutation_p.S200L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	200	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.S200L(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GTAGGGCTCCGAGCAATTCTT	0.582000													38	310					0	0	0.036044	0	0
DOPEY2	9980	broad.mit.edu	37	21	37618548	37618548	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr21:37618548A>T	ENST00000399151.3	+	19	4355	c.4270A>T	c.(4270-4272)Att>Ttt	p.I1424F		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1424					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		p.I1424F(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGAGAGTCTCATTAACTTGGG	0.612000													10	70					0	0	0.016723	0	0
MYH1	4619	broad.mit.edu	37	17	10403991	10403991	+	Silent	SNP	G	G	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr17:10403991G>A	ENST00000226207.5	-	28	3911	c.3817C>T	c.(3817-3819)Ctg>Ttg	p.L1273L	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1273						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.L1273L(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCATTGATCAGCCGCTGCTGC	0.483000													29	62					0	0	0.050027	0	0
SMARCA2	6595	broad.mit.edu	37	9	2101582	2101582	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr9:2101582G>C	ENST00000382203.1	+	22	3300	c.3091G>C	c.(3091-3093)Gaa>Caa	p.E1031Q	SMARCA2_ENST00000349721.2_Missense_Mutation_p.E1031Q|SMARCA2_ENST00000382194.1_Missense_Mutation_p.E1031Q|SMARCA2_ENST00000357248.2_Missense_Mutation_p.E1031Q			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1031					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	p.E1031Q(1)|p.E1027Q(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ATCCTTTGCTGAACACCTAGG	0.299000													5	28					0	0	0.029380	0	0
PARP14	54625	broad.mit.edu	37	3	122420301	122420301	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr3:122420301T>A	ENST00000474629.2	+	6	3166	c.2900T>A	c.(2899-2901)gTt>gAt	p.V967D		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	967	Macro 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	p.V804D(1)|p.V967D(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GAGAAGACTGTTGAGGCCTTT	0.488000													8	32					0	0	0.047766	0	0
SLITRK5	26050	broad.mit.edu	37	13	88330366	88330366	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr13:88330366A>G	ENST00000325089.6	+	2	2942	c.2723A>G	c.(2722-2724)gAc>gGc	p.D908G	SLITRK5_ENST00000400028.3_Missense_Mutation_p.D667G	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	908						integral to membrane		p.D908G(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GGGGCAGGGGACAGCAGGCTA	0.552000													40	251					0	0	0.030466	0	0
TMEM2	23670	broad.mit.edu	37	9	74313084	74313084	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr9:74313084C>A	ENST00000377044.4	-	20	3953	c.3414G>T	c.(3412-3414)agG>agT	p.R1138S	TMEM2_ENST00000396272.3_Missense_Mutation_p.R131S|TMEM2_ENST00000377066.5_Missense_Mutation_p.R1075S	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1138						integral to membrane		p.R1138S(1)|p.R1138R(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TGTGGCCATGCCTGTGGCTTT	0.418000													56	94					1.64573e-32	2.69466e-32	0.048971	1	0
PCLO	27445	broad.mit.edu	37	7	82764745	82764745	+	Silent	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr7:82764745C>T	ENST00000423517.2	-	3	2458	c.2121G>A	c.(2119-2121)gtG>gtA	p.V707V	PCLO_ENST00000333891.8_Silent_p.V707V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	653	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.V707V(2)|p.V653V(1)		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						TTGGTTGTTTCACTAGTGGTG	0.542000													15	78					0	0	0.043863	0	0
MYH11	4629	broad.mit.edu	37	16	15820896	15820896	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr16:15820896C>T	ENST00000338282.6	-	28	3773	c.3667G>A	c.(3667-3669)Gac>Aac	p.D1223N	MYH11_ENST00000300036.5_Missense_Mutation_p.D1223N|MYH11_ENST00000396324.3_Missense_Mutation_p.D1230N|MYH11_ENST00000576790.1_Missense_Mutation_p.D1223N|AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000452625.2_Missense_Mutation_p.D1230N	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1223					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.D1223N(1)|p.D1230N(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TTATTCTTGTCTAGGTTCGCC	0.597000			T	CBFB	AML								77	550					0	0	0.048971	0	0
PCDH7	5099	broad.mit.edu	37	4	31144129	31144129	+	Silent	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr4:31144129G>T	ENST00000543491.1	+	3	3426	c.3426G>T	c.(3424-3426)ggG>ggT	p.G1142G				O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.G1087G(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CCCTGACTGGGAAGTGCACTC	0.512000													22	99					1.55469e-16	2.1992e-16	0.018920	1	0
MYO1H	283446	broad.mit.edu	37	12	109841826	109841826	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr12:109841826G>T	ENST00000310903.5	+	7	848	c.742G>T	c.(742-744)Gac>Tac	p.D248Y	MYO1H_ENST00000431443.2_Missense_Mutation_p.D248Y|MYO1H_ENST00000542883.1_3'UTR			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity	p.D248Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TGACAAGAATGACTGGAAAAC	0.418000													6	27					3.09899e-07	3.55191e-07	0.047766	1	0
NGFR	4804	broad.mit.edu	37	17	47583901	47583901	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr17:47583901C>A	ENST00000172229.3	+	3	574	c.449C>A	c.(448-450)cCc>cAc	p.P150H	NGFR_ENST00000504201.1_Missense_Mutation_p.P56H|RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	150					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm		p.P150H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GAGGAGTGCCCCGACGGCACG	0.701000													8	56					1.12685e-05	1.24679e-05	0.047766	1	0
LRP1B	53353	broad.mit.edu	37	2	141812830	141812830	+	Splice_Site	SNP	T	T	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr2:141812830T>A	ENST00000389484.3	-	10	2380		c.e10-2			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.?(1)		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)		GGCTTCTGACTACAACAAATA	0.398000										TSP Lung(27;0.18)			6	21					0	0	0.021553	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256990	69256990	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr14:69256990C>A	ENST00000439696.2	-	2	578	c.277G>T	c.(277-279)Gaa>Taa	p.E93*	ZFP36L1_ENST00000336440.3_Nonsense_Mutation_p.E93*|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	93					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E93*(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TCGCCCCCTTCCGAGAAGGAG	0.667000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	38					6.50621e-10	8.05617e-10	0.054565	1	0
CTC1	80169	broad.mit.edu	37	17	8141519	8141519	+	Silent	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr17:8141519C>A	ENST00000315684.8	-	4	484	c.477G>T	c.(475-477)ctG>ctT	p.L159L	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	159					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	p.L159L(1)		NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						AACGGGGGAACAGAAAAAGAT	0.532000													23	91					1.42536e-11	1.83612e-11	0.024334	1	0
GIMAP2	26157	broad.mit.edu	37	7	150389570	150389570	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr7:150389570G>T	ENST00000223293.5	+	3	290	c.196G>T	c.(196-198)Gga>Tga	p.G66*		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	66						integral to membrane	GTP binding	p.G66*(1)		kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAAAAGTCAGGGAAGCTGGGG	0.468000													44	21					6.21074e-16	8.6486e-16	0.042209	1	0
ABCC8	6833	broad.mit.edu	37	11	17449426	17449426	+	Missense_Mutation	SNP	G	G	A	rs72559724		TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr11:17449426G>A	ENST00000302539.4	-	15	2229	c.2104C>T	c.(2104-2106)Cgt>Tgt	p.R702C	ABCC8_ENST00000389817.3_Missense_Mutation_p.R702C	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	702	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	p.R702C(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CGGGGGATACGAATGGTGATG	0.532000													11	49					0	0	0.020292	0	0
RPL31P11	641311	broad.mit.edu	37	1	161654774	161654774	+	RNA	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:161654774C>A	ENST00000426558.1	-	0	268					NR_002595.1																						CATTCTTATTCCTTTGGCCCA	0.473000													10	46					1.33987e-11	1.73099e-11	0.008291	1	0
GAS2L3	283431	broad.mit.edu	37	12	101005791	101005791	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr12:101005791G>C	ENST00000537247.1	+	6	959	c.5G>C	c.(4-6)aGa>aCa	p.R2T	GAS2L3_ENST00000266754.5_Missense_Mutation_p.R106T|GAS2L3_ENST00000547754.1_Missense_Mutation_p.R106T|GAS2L3_ENST00000539410.1_Missense_Mutation_p.R106T			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	106					cell cycle arrest			p.R106T(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TTTCCAATGAGAAAAGTGCCC	0.348000													21	76					0	0	0.055883	0	0
TEX15	56154	broad.mit.edu	37	8	30704102	30704102	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr8:30704102T>A	ENST00000256246.2	-	1	2506	c.2432A>T	c.(2431-2433)aAt>aTt	p.N811I		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	811								p.N811I(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATCTTCCTTATTTATTTCCGG	0.368000													4	25					0	0	0.047766	0	0
AL132709.8	0	broad.mit.edu	37	14	101431171	101431171	+	RNA	SNP	T	T	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr14:101431171T>A	ENST00000423708.3	+	0	736																											GAATACATGTTTGAAACTCTG	0.353000													16	35					0	0	0.043863	0	0
TPO	7173	broad.mit.edu	37	2	1426848	1426848	+	Silent	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr2:1426848C>A	ENST00000345913.4	+	3	217	c.126C>A	c.(124-126)gtC>gtA	p.V42V	TPO_ENST00000382201.3_Silent_p.V42V|TPO_ENST00000539820.1_Silent_p.V42V|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Silent_p.V42V|TPO_ENST00000382269.3_Silent_p.V42V|TPO_ENST00000346956.3_Silent_p.V42V|TPO_ENST00000337415.3_Silent_p.V42V|TPO_ENST00000329066.4_Silent_p.V42V|TPO_ENST00000382198.1_Silent_p.V42V	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	42					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.V42V(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TCTCTAGCGTCTTGGAGGAAA	0.582000													27	73					7.11191e-15	9.72178e-15	0.054565	1	0
MTR	4548	broad.mit.edu	37	1	236969511	236969511	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:236969511C>A	ENST00000366577.5	+	3	711	c.317C>A	c.(316-318)gCt>gAt	p.A106D	MTR_ENST00000418145.2_Missense_Mutation_p.A162D|MTR_ENST00000535889.1_Missense_Mutation_p.A106D	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	106	Hcy-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	p.A106D(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	ATTGCCCAAGCTGACTATGGC	0.413000													4	142					0.014758	0.0152352	0.014758	1	0
EMC9	51016	broad.mit.edu	37	14	24610337	24610337	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr14:24610337C>G	ENST00000419198.2	-	1	457	c.177G>C	c.(175-177)atG>atC	p.M59I	EMC9_ENST00000560403.1_Intron|EMC9_ENST00000558200.1_5'UTR|EMC9_ENST00000216799.4_Missense_Mutation_p.M59I					ER membrane protein complex subunit 9									p.M59I(1)									CGACCTCCAACATGACGGACA	0.652000											OREG0022618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	55	168					0	0	0.048971	0	0
CDH7	1005	broad.mit.edu	37	18	63511297	63511297	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr18:63511297G>T	ENST00000536984.2	+	7	1925	c.1231G>T	c.(1231-1233)Gtg>Ttg	p.V411L	CDH7_ENST00000397968.2_Missense_Mutation_p.V411L|CDH7_ENST00000323011.3_Missense_Mutation_p.V411L			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	411	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V411L(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CAATAGCCCTGTGAGGTAAAA	0.423000													9	53					3.09899e-07	3.55191e-07	0.047766	1	0
HMCN1	83872	broad.mit.edu	37	1	186086738	186086738	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:186086738A>G	ENST00000271588.4	+	77	12060	c.11831A>G	c.(11830-11832)tAt>tGt	p.Y3944C	HMCN1_ENST00000367492.2_Missense_Mutation_p.Y3944C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3944	Ig-like C2-type 38.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.Y3944C(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGAGATGGCTATAGAATTCTG	0.433000													69	42					0	0	0.048971	0	0
ABI3BP	25890	broad.mit.edu	37	3	100498978	100498978	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr3:100498978G>T	ENST00000471714.1	-	57	4320	c.4211C>A	c.(4210-4212)cCa>cAa	p.P1404Q	ABI3BP_ENST00000284322.5_Missense_Mutation_p.P702Q|ABI3BP_ENST00000383691.4_Missense_Mutation_p.P656Q			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	702						extracellular space		p.P703Q(1)|p.P656Q(1)|p.P1404Q(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTACTTACCTGGCTTTTTAGT	0.458000													8	59					0.0381472	0.0390202	0.038147	1	0
VCAM1	7412	broad.mit.edu	37	1	101185437	101185437	+	Silent	SNP	G	G	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:101185437G>T	ENST00000294728.2	+	1	122	c.21G>T	c.(19-21)gtG>gtT	p.V7V	VCAM1_ENST00000370115.1_Silent_p.V7V|VCAM1_ENST00000347652.2_Silent_p.V7V|VCAM1_ENST00000370119.4_Silent_p.V7V	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	7					heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	p.V7V(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AGATGGTCGTGATCCTTGGAG	0.413000													15	43					1.55795e-14	2.12318e-14	0.062417	1	0
ZSWIM5	57643	broad.mit.edu	37	1	45508890	45508890	+	Splice_Site	DEL	C	C	-			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:45508890delC	ENST00000359600.5	-	6	1815		c.e6+1			NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5								zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GCTAGACTTACCAAGCCACAG	0.478													39	108	---	---	---	---					
BCL9	607	broad.mit.edu	37	1	147091501	147091501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:147091501delC	ENST00000234739.3	+	8	2280	c.1540delC	c.(1540-1542)ccfs	p.P517fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	517	Poly-Pro.|Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGTCCGAGGACCCCCCCCTCC	0.582			T	"""IGH@, IGL@"""	B-ALL								7	465	---	---	---	---					
OBSCN	84033	broad.mit.edu	37	1	228558786	228558786	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr1:228558786delC	ENST00000570156.2	+	105	23252	c.23178delC	c.(23176-23178)ggfs	p.G7726fs	OBSCN_ENST00000422127.1_Frame_Shift_Del_p.G6769fs|OBSCN_ENST00000366707.4_Frame_Shift_Del_p.G4403fs	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6769	Protein kinase 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCTGCGGGGCCCACCCGACA	0.662													60	55	---	---	---	---					
AC005754.7	0	broad.mit.edu	37	5	140480154	140480154	+	RNA	DEL	G	G	-			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr5:140480154delG	ENST00000607216.1	-	0	255																											TACAAAGGTTGTGGGGCAAAA	0.542													17	33	---	---	---	---					
FRK	2444	broad.mit.edu	37	6	116289825	116289827	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr6:116289825_116289827delTTC	ENST00000606080.1	-	3	988_990	c.542_544delGAA	c.(541-546)atc>a	p.RI181del	FRK_ENST00000538210.1_In_Frame_Del_p.RI39del	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	181	SH2.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		GTTGAAAAGATTCTTCTTCGCGT	0.409													22	148	---	---	---	---					
SHPRH	257218	broad.mit.edu	37	6	146276182	146276182	+	Frame_Shift_Del	DEL	A	A	-			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr6:146276182delA	ENST00000367503.3	-	2	675	c.277delT	c.(277-279)ccfs	p.S93fs	SHPRH_ENST00000367505.2_Frame_Shift_Del_p.S93fs|SHPRH_ENST00000275233.7_Frame_Shift_Del_p.S93fs|SHPRH_ENST00000438092.2_Frame_Shift_Del_p.S93fs	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	93					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GACAAAGGGGAAAAAATACCA	0.363													8	74	---	---	---	---					
FAM66B	100128890	broad.mit.edu	37	8	7191540	7191541	+	RNA	DEL	CA	CA	-			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr8:7191540_7191541delCA	ENST00000606573.1	-	0	703																											GGGGTGcacgcacacacacaca	0.530													7	31	---	---	---	---					
ISCA1	81689	broad.mit.edu	37	9	88881102	88881103	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr9:88881102_88881103insA	ENST00000375991.4	-	4	315_316	c.245_246insT	c.(244-246)gagfs	p.E82fs	ISCA1_ENST00000452279.2_Frame_Shift_Ins_p.E129fs|ISCA1_ENST00000311534.6_5'UTR	NM_030940.3	NP_112202.2	Q9BUE6	ISCA1_HUMAN	iron-sulfur cluster assembly 1	82					iron-sulfur cluster assembly	mitochondrion	iron-sulfur cluster binding|metal ion binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)	8				OV - Ovarian serous cystadenocarcinoma(323;5.4e-34)|Lung(182;0.0375)		TGAATACTCTGACTCCTTGGAG	0.376													16	102	---	---	---	---					
PBLD	64081	broad.mit.edu	37	10	70048359	70048375	+	Frame_Shift_Del	DEL	CCTGTGTTTTCAACTTG	CCTGTGTTTTCAACTTG	-			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr10:70048359_70048375delCCTGTGTTTTCAACTTG	ENST00000358769.2	-	8	758_774	c.556_572delCAAGTTGAAAACACAGG	c.(556-573)gfs	p.QVENTG186fs	PBLD_ENST00000277795.4_3'UTR|PBLD_ENST00000432941.1_Frame_Shift_Del_p.QVENTG186fs|PBLD_ENST00000336578.1_Frame_Shift_Del_p.QVENTG153fs|PBLD_ENST00000309049.4_Frame_Shift_Del_p.QVENTG186fs|PBLD_ENST00000495025.1_5'UTR	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	186					biosynthetic process		isomerase activity	p.G191V(1)		endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						TTTCACCTTCCCTGTGTTTTCAACTTGCAGCAGATTC	0.461													15	152	---	---	---	---					
RPH3A	22895	broad.mit.edu	37	12	113303262	113303262	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr12:113303262delG	ENST00000389385.4	+	6	771	c.274delG	c.(274-276)gafs	p.G92fs	RPH3A_ENST00000420983.2_Frame_Shift_Del_p.G92fs|RPH3A_ENST00000551052.1_Frame_Shift_Del_p.G88fs|RPH3A_ENST00000548866.1_Frame_Shift_Del_p.G43fs|RPH3A_ENST00000447659.2_Frame_Shift_Del_p.G43fs|RPH3A_ENST00000543106.2_Frame_Shift_Del_p.G92fs|RPH3A_ENST00000415485.3_Frame_Shift_Del_p.G92fs	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	92	RabBD.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GAACGTGGCTGGAGATGGGGT	0.532													70	167	---	---	---	---					
KRTAP1-1	81851	broad.mit.edu	37	17	39197262	39197262	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr17:39197262delG	ENST00000306271.4	-	1	451	c.388delC	c.(388-390)tgfs	p.L130fs		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	130						extracellular region|keratin filament				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGGGGGGCAGGCAGGTACCC	0.667													8	74	---	---	---	---					
RUNDC1	146923	broad.mit.edu	37	17	41143406	41143406	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr17:41143406delG	ENST00000361677.1	+	5	1527	c.1515delG	c.(1513-1515)acfs	p.T505fs		NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN	RUN domain containing 1	505	RUN.									breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		TTCCTGTTACGGGAGGCACTG	0.542													72	91	---	---	---	---					
KANK3	256949	broad.mit.edu	37	19	8398950	8398961	+	In_Frame_Del	DEL	TCGCTGTCGCCA	TCGCTGTCGCCA	-	rs111751275		TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr19:8398950_8398961delTCGCTGTCGCCA	ENST00000330915.3	-	5	1532_1543	c.1467_1478delTGGCGACAGCGA	c.(1465-1479)gag>ga	p.DGDSE489del	KANK3_ENST00000593649.1_In_Frame_Del_p.DGDSE489del	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	489								p.D489_S492delDGDS(2)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GCCACCGTTCTCGCTGTCGCCATCGCTGTCGC	0.717													3	3	---	---	---	---					
COL5A3	50509	broad.mit.edu	37	19	10080331	10080332	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr19:10080331_10080332insT	ENST00000264828.3	-	56	4102_4103	c.4017_4018insA	c.(4015-4020)ccggagfs	p.E1340fs		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1340	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)			CCCGTCCTCCCTGGGGGCCCAT	0.673													12	36	---	---	---	---					
ZNF536	9745	broad.mit.edu	37	19	30935349	30935350	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chr19:30935349_30935350insT	ENST00000355537.3	+	2	1027_1028	c.880_881insT	c.(880-882)catfs	p.H294fs		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCGCCACATCCGCATCTTGCAC	0.644													68	183	---	---	---	---					
FAM58A	92002	broad.mit.edu	37	X	152860006	152860006	+	Splice_Site	DEL	T	T	-			TCGA-05-4249-01A-01D-1105-08	TCGA-05-4249-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be717b5-5b65-4631-a175-1f4c063d447e	5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7	g.chrX:152860006delT	ENST00000406277.2	-	5	524	c.423_splice	c.e5+1	p.K141_splice	FAM58A_ENST00000370175.4_5'UTR	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A	143					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTATGTACCTTGTGTGGATG	0.537													76	55	---	---	---	---					
