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
ATAD5	79915	broad.mit.edu	37	17	29162762	29162762	+	Silent	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr17:29162762C>T	ENST00000321990.4	+	2	2041	c.1663C>T	c.(1663-1665)Ctg>Ttg	p.L555L	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	555					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GGTTTCCTCTCTGTGTAACAA	0.323000													6	69					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86027434	86027434	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr8:86027434C>T	ENST00000414626.2	+	4	1473	c.584C>T	c.(583-585)tCa>tTa	p.S195L	LRRCC1_ENST00000360375.3_Missense_Mutation_p.S215L			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	215	LRRCT.				cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ATAAATTCATCACAGCTGCAG	0.358000													5	56					0	0	1	0	0
RCHY1	25898	broad.mit.edu	37	4	76439460	76439460	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr4:76439460G>A	ENST00000324439.5	-	1	435	c.37C>T	c.(37-39)Caa>Taa	p.Q13*	RCHY1_ENST00000512706.1_Silent_p.V5V|RCHY1_ENST00000451788.1_Nonsense_Mutation_p.Q13*|RCHY1_ENST00000514021.1_Intron|RCHY1_ENST00000513257.1_Nonsense_Mutation_p.Q13*|RCHY1_ENST00000380840.2_Nonsense_Mutation_p.Q13*	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	13				SGQ -> TGE (in Ref. 1; ACT35531 and 3; AAK96896).	positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CCTCGCTCTTGACCGCTGGCG	0.602000													12	91					0	0	1	0	0
AGO2	27161	broad.mit.edu	37	8	141572697	141572697	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr8:141572697C>T	ENST00000220592.5	-	4	485	c.373G>A	c.(373-375)Gat>Aat	p.D125N	AGO2_ENST00000519980.1_Missense_Mutation_p.D125N	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		AAGATGCGATCCTTGCCTTCT	0.607000													36	151					0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53572453	53572453	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:53572453C>G	ENST00000601421.1	-	3	2102	c.1226G>C	c.(1225-1227)aGa>aCa	p.R409T	ZNF160_ENST00000429604.1_Missense_Mutation_p.R445T|ZNF160_ENST00000599056.1_Missense_Mutation_p.R445T|ZNF160_ENST00000418871.1_Missense_Mutation_p.R445T			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	445					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		AGTATGAACTCTCCGATGCCT	0.418000													17	64					0	0	1	0	0
RAB9BP1	9366	broad.mit.edu	37	5	104435195	104435195	+	RNA	SNP	T	T	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr5:104435195T>A	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							AATCATCACTTTTTAAAGTAA	0.343000													6	10					0	0	1	0	0
EGLN2	112398	broad.mit.edu	37	19	41313073	41313073	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:41313073G>C	ENST00000593726.1	+	3	2022	c.994G>C	c.(994-996)Gag>Cag	p.E332Q	EGLN2_ENST00000406058.2_Missense_Mutation_p.E332Q|RAB4B-EGLN2_ENST00000594136.1_3'UTR|CTC-490E21.12_ENST00000601627.1_Intron|EGLN2_ENST00000303961.4_Missense_Mutation_p.E332Q|EGLN2_ENST00000594140.1_Missense_Mutation_p.E50Q			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	332	Fe2OG dioxygenase.				cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	GATCTTCCCTGAGGGCCGGCC	0.657000											OREG0025478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	52	123					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200969040	200969040	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:200969040C>T	ENST00000332129.2	-	12	2054	c.1738G>A	c.(1738-1740)Gag>Aag	p.E580K	KIF21B_ENST00000360529.5_Missense_Mutation_p.E580K|KIF21B_ENST00000461742.2_Missense_Mutation_p.E580K|KIF21B_ENST00000422435.2_Missense_Mutation_p.E580K	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	580					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.E580K(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCCGTCTCCTCGCTGTTCTCC	0.637000													14	111					0	0	1	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46387755	46387755	+	Silent	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:46387755C>G	ENST00000302165.3	-	1	1621	c.1278G>C	c.(1276-1278)ctG>ctC	p.L426L		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CCACATTCTTCAGGGCGGCAA	0.716000													7	96					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144854588	144854588	+	Silent	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:144854588C>T	ENST00000369359.4	-	45	7328	c.7290G>A	c.(7288-7290)caG>caA	p.Q2430Q	PDE4DIP_ENST00000369354.3_Silent_p.Q2294Q|PDE4DIP_ENST00000530740.1_Silent_p.Q2379Q|PDE4DIP_ENST00000369356.4_Silent_p.Q2294Q|PDE4DIP_ENST00000313382.9_Silent_p.Q2188Q|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2294					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CAGTTGTGCTCTGAAGGAGTC	0.498000			T	PDGFRB	MPD								27	152					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60758471	60758471	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr17:60758471G>A	ENST00000303375.5	+	18	3085	c.2683G>A	c.(2683-2685)Gag>Aag	p.E895K		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	895	C-type lectin 5.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCACACCTCTGAGAGCGATGG	0.642000													13	55					0	0	1	0	0
SLMAP	7871	broad.mit.edu	37	3	57902669	57902669	+	Silent	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr3:57902669C>T	ENST00000295951.3	+	20	3290	c.2073C>T	c.(2071-2073)ctC>ctT	p.L691L	SLMAP_ENST00000442599.2_Silent_p.L176L|SLMAP_ENST00000295952.3_Silent_p.L691L|SLMAP_ENST00000416870.1_Silent_p.L201L|SLMAP_ENST00000495364.1_Silent_p.L242L|SLMAP_ENST00000428312.1_Silent_p.L708L|SLMAP_ENST00000494088.1_Silent_p.L201L|SLMAP_ENST00000449503.2_Silent_p.L670L			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	708					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		CCAGTGATCTCAGCATCCTTC	0.393000													9	57					0	0	1	0	0
DQX1	165545	broad.mit.edu	37	2	74749885	74749885	+	Silent	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr2:74749885C>T	ENST00000404568.3	-	8	1536	c.1317G>A	c.(1315-1317)ctG>ctA	p.L439L	DQX1_ENST00000393951.2_Silent_p.L439L	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	439	Helicase C-terminal.					nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GGGCTTGCATCAGTGCTTCTG	0.532000													31	252					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	C	rs104886003		TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr3:178936091G>C	ENST00000263967.3	+	10	1790	c.1633G>C	c.(1633-1635)Gag>Cag	p.E545Q		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)			6	39					0	0	1	0	0
ARMC12	221481	broad.mit.edu	37	6	35705102	35705102	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr6:35705102G>A	ENST00000288065.2	+	1	244	c.217G>A	c.(217-219)Gag>Aag	p.E73K	ARMC12_ENST00000373869.3_Intron|ARMC12_ENST00000373866.3_Intron	NM_145028.3	NP_659465.2	Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	55							binding										ACCTGCTCCCGAGGCCTCTGC	0.602000											OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	56					0	0	1	0	0
ZC3H12A	80149	broad.mit.edu	37	1	37947376	37947376	+	Missense_Mutation	SNP	G	G	C	rs142832569	by1000genomes	TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:37947376G>C	ENST00000373087.6	+	4	874	c.758G>C	c.(757-759)cGg>cCg	p.R253P		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	253					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAAGGCGAGCGGCAGGAGTGG	0.567000													26	47					0	0	1	0	0
IRF2BP2	359948	broad.mit.edu	37	1	234743155	234743155	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:234743155G>C	ENST00000366609.3	-	2	1522	c.1492C>G	c.(1492-1494)Ctg>Gtg	p.L498V	IRF2BP2_ENST00000366610.3_Missense_Mutation_p.L482V|IRF2BP2_ENST00000491430.1_5'UTR|RP4-781K5.2_ENST00000436039.1_RNA	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			CTGGTTGCCAGAGAGGAGTCC	0.652000													17	130					0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41111007	41111007	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:41111007C>T	ENST00000308370.7	+	5	518	c.518C>T	c.(517-519)cCg>cTg	p.P173L	LTBP4_ENST00000204005.9_Missense_Mutation_p.P136L|LTBP4_ENST00000545697.1_5'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.P106L|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	173	EGF-like 1.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTCTGTCCCCCGGACTTCGCT	0.662000													15	50					0	0	1	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140755945	140755945	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr5:140755945G>A	ENST00000517434.1	+	1	2295	c.2295G>A	c.(2293-2295)aaG>aaA	p.K765K	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCGCGTAAGAGTCATCTGA	0.537000													15	118					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2622129	2622129	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr12:2622129G>C	ENST00000399655.1	+	9	1634	c.1369G>C	c.(1369-1371)Gat>Cat	p.D457H	CACNA1C_ENST00000399644.1_Missense_Mutation_p.D457H|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D457H|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D457H|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D457H|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D457H|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D457H|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D457H|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D457H|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D457H|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D457H|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D457H|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D457H|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D457H|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D457H|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D457H|CACNA1C_ENST00000347598.4_Missense_Mutation_p.D457H|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D457H|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D457H|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D457H|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D457H|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D457H|CACNA1C_ENST00000399603.1_Missense_Mutation_p.D457H	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	457					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CGAAGGCATGGATGAGGAGAA	0.552000													4	18					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167833324	167833324	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr5:167833324C>G	ENST00000265293.4	+	6	1214	c.712C>G	c.(712-714)Ctc>Gtc	p.L238V	WWC1_ENST00000521089.1_Missense_Mutation_p.L238V	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	238					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		AAAGCAAGATCTCATTAAGGT	0.458000													13	122					0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56342254	56342254	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr17:56342254G>C	ENST00000262290.4	+	10	1754	c.1438G>C	c.(1438-1440)Gag>Cag	p.E480Q	LPO_ENST00000421678.2_Missense_Mutation_p.E397Q|LPO_ENST00000582328.1_Missense_Mutation_p.E397Q|LPO_ENST00000543544.1_Missense_Mutation_p.E421Q	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	480					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CCGCCTGGATGAGAATTATCA	0.522000													18	45					0	0	1	0	0
MOG	4340	broad.mit.edu	37	6	29637994	29637994	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr6:29637994G>C	ENST00000494692.1	+	6	636	c.636G>C	c.(634-636)aaG>aaC	p.K212N	MOG_ENST00000490427.1_Missense_Mutation_p.K96N|MOG_ENST00000376917.3_Intron|MOG_ENST00000396704.3_Missense_Mutation_p.K212N|MOG_ENST00000376902.3_Intron|MOG_ENST00000416766.2_Intron|MOG_ENST00000396701.2_Intron|MOG_ENST00000431798.2_Intron|MOG_ENST00000376891.4_Intron|MOG_ENST00000483013.1_Intron|MOG_ENST00000533330.2_Intron|MOG_ENST00000376894.4_Intron|MOG_ENST00000376898.3_Intron|MOG_ENST00000376888.2_Intron	NM_001008228.2|NM_206811.3	NP_001008229.1|NP_996534.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	235					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						AACCAAAAAAGACAGGTGGGT	0.478000													25	96					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16873362	16873362	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr10:16873362G>C	ENST00000377833.4	-	65	10482	c.10417C>G	c.(10417-10419)Ctg>Gtg	p.L3473V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3473	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTGGCAGCAGAGTTCCACAG	0.378000													62	82					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27804130	27804130	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr2:27804130G>C	ENST00000408964.2	+	1	4742	c.4691G>C	c.(4690-4692)aGa>aCa	p.R1564T		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1564	Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCCTCTTGGAGAAACCATCGC	0.527000													18	203					0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6540947	6540947	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr11:6540947G>C	ENST00000254579.6	+	8	2074	c.1510G>C	c.(1510-1512)Gag>Cag	p.E504Q	DNHD1_ENST00000354685.3_Missense_Mutation_p.E504Q|DNHD1_ENST00000527990.2_Missense_Mutation_p.E504Q	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	504					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CAAGCAACTGGAGCAGAAGCT	0.527000													35	59					0	0	1	0	0
FTSJ3	117246	broad.mit.edu	37	17	61904004	61904004	+	Silent	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr17:61904004C>T	ENST00000427159.2	-	3	741	c.96G>A	c.(94-96)ctG>ctA	p.L32L		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	32					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TGAGCTGGATCAGCTTGAAAG	0.562000													13	54					0	0	1	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31961944	31961944	+	Silent	SNP	A	A	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr20:31961944A>T	ENST00000357886.4	-	10	1377	c.1224T>A	c.(1222-1224)cgT>cgA	p.R408R	CDK5RAP1_ENST00000473997.1_Silent_p.R304R|CDK5RAP1_ENST00000544843.1_Silent_p.R394R|CDK5RAP1_ENST00000339269.5_Silent_p.R317R|CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000346416.2_Silent_p.R394R			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	408					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CCTCCAACACACGGCTGCTTC	0.502000													20	272					0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93788547	93788547	+	Splice_Site	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr10:93788547G>A	ENST00000265990.6	+	38	5715	c.5407G>A	c.(5407-5409)Gat>Aat	p.D1803N	BTAF1_ENST00000544642.1_Splice_Site_p.D631N	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1803					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TTTTCTTAAGGATGGCAAAGC	0.313000													3	16					0	0	1	0	0
VWA5A	4013	broad.mit.edu	37	11	123988549	123988549	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr11:123988549G>C	ENST00000456829.2	+	4	464	c.213G>C	c.(211-213)aaG>aaC	p.K71N	VWA5A_ENST00000361352.5_Missense_Mutation_p.K71N|VWA5A_ENST00000392744.4_Missense_Mutation_p.K87N|VWA5A_ENST00000360334.4_Missense_Mutation_p.K71N|VWA5A_ENST00000449321.1_Missense_Mutation_p.K71N|VWA5A_ENST00000392748.1_Missense_Mutation_p.K71N	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	71	VIT.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TGGATGGGAAGAAAATTGTAG	0.423000													8	72					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102291905	102291905	+	RNA	SNP	C	C	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr15:102291905C>A	ENST00000561463.1	+	0	671																											CCAAGACCATCATGCACATCA	0.572000													6	48					1	1	1	1	0
NOTCH1	4851	broad.mit.edu	37	9	139412639	139412639	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr9:139412639G>A	ENST00000277541.6	-	7	1280	c.1205C>T	c.(1204-1206)tCg>tTg	p.S402L		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	402	EGF-like 10.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.S402*(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGTGTACCCCGAGGGGCAGGT	0.672000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			4	13					0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173150865	173150865	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr4:173150865G>C	ENST00000506823.1	+	3	854	c.197G>C	c.(196-198)aGa>aCa	p.R66T	GALNTL6_ENST00000508122.1_Missense_Mutation_p.R49T	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	66						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GGTTTGAGAAGAAAGGACTGG	0.443000													8	34					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112175509	112175509	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr5:112175509G>C	ENST00000457016.1	+	16	4598	c.4218G>C	c.(4216-4218)caG>caC	p.Q1406H	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.Q1406H|APC_ENST00000508376.2_Missense_Mutation_p.Q1406H			P25054	APC_HUMAN	adenomatous polyposis coli	1406	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.Y1376fs*41(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GCTCCGTTCAGAGTGAACCAT	0.468000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			16	41					0	0	1	0	0
MAN2C1	4123	broad.mit.edu	37	15	75659976	75659976	+	Splice_Site	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr15:75659976C>G	ENST00000565683.1	-	3	239		c.e3-1		MAN2C1_ENST00000563622.1_Splice_Site|MAN2C1_ENST00000267978.5_Splice_Site|MAN2C1_ENST00000563539.1_Splice_Site|MAN2C1_ENST00000569482.1_Splice_Site	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1						mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GGTCCACCATCTGCAAGAGAG	0.537000											OREG0023299	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	89					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	79971665	79971665	+	Silent	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr2:79971665C>G	ENST00000466387.1	+	7	979	c.255C>G	c.(253-255)ctC>ctG	p.L85L	CTNNA2_ENST00000540488.1_Silent_p.L85L|CTNNA2_ENST00000496558.1_Silent_p.L85L|CTNNA2_ENST00000402739.4_Silent_p.L85L|CTNNA2_ENST00000541047.1_Silent_p.L85L|CTNNA2_ENST00000361291.4_Silent_p.L119L			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	85					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GTCAAGATCTCAAAGAAGAGT	0.463000													9	27					0	0	1	0	0
MID2	11043	broad.mit.edu	37	X	107084399	107084399	+	Silent	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chrX:107084399C>T	ENST00000262843.6	+	2	1052	c.504C>T	c.(502-504)gcC>gcT	p.A168A	MID2_ENST00000443968.2_Silent_p.A168A	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	168						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						GCCTGCGGGCCACGCACCCCA	0.557000													6	41					0	0	1	0	0
ZNF420	147923	broad.mit.edu	37	19	37618824	37618824	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:37618824G>C	ENST00000337995.3	+	5	1146	c.931G>C	c.(931-933)Gaa>Caa	p.E311Q	ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Missense_Mutation_p.E311Q	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAATGTAAGGAATGTGGAAA	0.378000													10	105					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31470883	31470883	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr16:31470883C>T	ENST00000457010.2	+	1	739	c.38C>T	c.(37-39)tCg>tTg	p.S13L	ARMC5_ENST00000268314.4_Missense_Mutation_p.S13L|ARMC5_ENST00000408912.3_Missense_Mutation_p.S108L|ARMC5_ENST00000538189.1_Missense_Mutation_p.S45L|ARMC5_ENST00000563544.1_Missense_Mutation_p.S13L|RP11-452L6.5_ENST00000564629.1_RNA	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	13							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GACTCGCTCTCGTTCTGCCTC	0.701000													7	24					0	0	1	0	0
CCDC86	79080	broad.mit.edu	37	11	60615506	60615506	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr11:60615506G>C	ENST00000227520.5	+	2	922	c.868G>C	c.(868-870)Gag>Cag	p.E290Q	RP11-804A23.4_ENST00000538705.1_RNA|CCDC86_ENST00000545580.1_Missense_Mutation_p.E34Q	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	290					interspecies interaction between organisms	nucleus				endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						CCTGGAGGAGGAGAAGGAGAG	0.627000													34	70					0	0	1	0	0
MTRR	4552	broad.mit.edu	37	5	7878223	7878223	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr5:7878223C>G	ENST00000264668.2	+	5	679	c.649C>G	c.(649-651)Caa>Gaa	p.Q217E	MTRR_ENST00000341013.6_3'UTR|MTRR_ENST00000440940.2_Missense_Mutation_p.Q190E	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	217	Hinge.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CATTGAATCTCAAGTCGAGCT	0.463000													8	97					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179623721	179623721	+	Silent	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr2:179623721C>T	ENST00000589042.1	-	44	10517	c.10293G>A	c.(10291-10293)ctG>ctA	p.L3431L	TTN_ENST00000359218.5_Silent_p.L3385L|TTN_ENST00000460472.2_Silent_p.L3385L|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Silent_p.L3385L|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Silent_p.L3431L|TTN_ENST00000342992.6_Silent_p.L3431L|TTN_ENST00000591111.1_Silent_p.L3431L|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3140	Ig-like 20.						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)			CTTCCAGACTCAGGTTGGCTG	0.373000													9	42					0	0	1	0	0
BAIAP2	10458	broad.mit.edu	37	17	79078328	79078328	+	Silent	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr17:79078328C>T	ENST00000321300.6	+	10	1174	c.1081C>T	c.(1081-1083)Ctg>Ttg	p.L361L	BAIAP2_ENST00000428708.2_Silent_p.L361L|BAIAP2_ENST00000575245.1_Silent_p.L394L|BAIAP2_ENST00000321280.7_Silent_p.L361L|BAIAP2_ENST00000416299.2_Silent_p.L224L|BAIAP2_ENST00000575712.1_Silent_p.L361L|BAIAP2_ENST00000435091.3_Silent_p.L361L|BAIAP2_ENST00000392411.3_Silent_p.L283L	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	361					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GAACAAGACTCTGCCTCGCTC	0.647000													44	135					0	0	1	0	0
SLC29A4	222962	broad.mit.edu	37	7	5327439	5327439	+	Splice_Site	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr7:5327439G>C	ENST00000396872.3	+	2	153		c.e2-1		SLC29A4_ENST00000406453.3_Splice_Site|SLC29A4_ENST00000297195.4_5'UTR			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4						nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		CTCCAAAGCAGAGGCTGCCAT	0.592000													11	40					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168833870	168833870	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr3:168833870G>A	ENST00000464456.1	-	7	2426	c.1226C>T	c.(1225-1227)tCg>tTg	p.S409L	MECOM_ENST00000433243.2_Missense_Mutation_p.S410L|MECOM_ENST00000468789.1_Missense_Mutation_p.S409L|MECOM_ENST00000264674.3_Missense_Mutation_p.S474L|MECOM_ENST00000392736.3_Missense_Mutation_p.S409L|MECOM_ENST00000494292.1_Missense_Mutation_p.S597L|MECOM_ENST00000472280.1_Missense_Mutation_p.S410L|MECOM_ENST00000460814.1_Missense_Mutation_p.S409L	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity	p.S409L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATCAGAGCCCGAGGTTGTTTC	0.423000													6	58					0	0	1	0	0
NDUFA6	4700	broad.mit.edu	37	22	42486610	42486610	+	Splice_Site	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr22:42486610C>T	ENST00000498737.2	-	1	349	c.217G>A	c.(217-219)Gtg>Atg	p.V73M	NDUFA6_ENST00000602404.1_Splice_Site_p.V47M	NM_002490.3	NP_002481.2	P56556	NDUA6_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa	73					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5					NADH(DB00157)	TACCTCTCACCAGTGTTCGGC	0.652000													38	171					0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42219034	42219034	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:42219034G>C	ENST00000221992.6	+	3	683	c.569G>C	c.(568-570)aGg>aCg	p.R190T	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Missense_Mutation_p.R190T|CEACAM5_ENST00000398599.4_Missense_Mutation_p.R190T	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	190	Ig-like 2.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GTCAGTCCCAGGCTGCAGCTG	0.532000													92	190					0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32352677	32352677	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr13:32352677C>G	ENST00000298386.2	+	9	813	c.742C>G	c.(742-744)Ctt>Gtt	p.L248V	RXFP2_ENST00000380314.1_Missense_Mutation_p.L248V	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	248						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CTTAGAAGCTCTTCCCAAGCA	0.318000													22	99					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103281576	103281576	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr2:103281576C>G	ENST00000233969.2	+	3	913	c.771C>G	c.(769-771)ttC>ttG	p.F257L		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	257						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						ACAACTTGTTCAAGTCGTTTT	0.458000													41	112					0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159170611	159170611	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:159170611G>C	ENST00000368125.4	+	9	1253	c.1096G>C	c.(1096-1098)Gag>Cag	p.E366Q	CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Missense_Mutation_p.E400Q|CADM3_ENST00000497636.1_3'UTR	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	366					adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CCTGACACATGAGGCAAAAGG	0.557000													30	75					0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44933410	44933410	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:44933410G>C	ENST00000291187.4	-	6	1850	c.1528C>G	c.(1528-1530)Ctg>Gtg	p.L510V	ZNF229_ENST00000588931.1_Missense_Mutation_p.L516V|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	516					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CATTTGTACAGATGCTGCCCC	0.502000													12	134					0	0	1	0	0
PPP1CA	5499	broad.mit.edu	37	11	67166421	67166421	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr11:67166421C>T	ENST00000376745.4	-	5	885	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000312989.7_Missense_Mutation_p.R257Q|PPP1CA_ENST00000358239.4_Missense_Mutation_p.R202Q	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	246					cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			CTGGTGTGCTCGGCAGATGAG	0.667000													18	96					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7789842	7789842	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr5:7789842C>A	ENST00000338316.4	+	20	2646	c.2557C>A	c.(2557-2559)Cgc>Agc	p.R853S	ADCY2_ENST00000537121.1_Missense_Mutation_p.R673S	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	853					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GAACCTGAACCGCGTGCTGCT	0.537000													26	102					3.28513e-13	3.53389e-13	1	1	0
ZAN	7455	broad.mit.edu	37	7	100382347	100382347	+	RNA	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr7:100382347C>G	ENST00000542585.1	+	0	6870				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AAAGTCCCCTCTGCCTGCGCT	0.617000													5	43					0	0	1	0	0
TMEM119	338773	broad.mit.edu	37	12	108985559	108985559	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr12:108985559C>A	ENST00000392806.3	-	2	769	c.601G>T	c.(601-603)Gag>Tag	p.E201*		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	201						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						CCCCTGCCCTCCACCATCCTG	0.682000													13	58					5.50884e-06	5.73441e-06	1	1	0
DENND4C	55667	broad.mit.edu	37	9	19316763	19316763	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr9:19316763G>C	ENST00000380432.2	+	8	1058	c.1025G>C	c.(1024-1026)aGa>aCa	p.R342T	DENND4C_ENST00000434457.2_Missense_Mutation_p.R578T|DENND4C_ENST00000602925.1_Missense_Mutation_p.R578T			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	342	dDENN.					integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AAAGGATATAGAACATATCTC	0.403000													31	136					0	0	1	0	0
KCNF1	3754	broad.mit.edu	37	2	11053434	11053434	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr2:11053434C>G	ENST00000295082.1	+	1	1372	c.882C>G	c.(880-882)atC>atG	p.I294M		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	294						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CGCTGCGGATCATGCGCATCG	0.657000													12	33					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5463094	5463094	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr5:5463094G>A	ENST00000296564.7	+	13	3869	c.3647G>A	c.(3646-3648)gGa>gAa	p.G1216E		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1216										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AGTGAAATAGGAGAAAAATAC	0.363000													4	52					0	0	1	0	0
DUS1L	64118	broad.mit.edu	37	17	80018777	80018777	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr17:80018777G>A	ENST00000354321.7	-	8	1388	c.903C>T	c.(901-903)atC>atT	p.I301I	DUS1L_ENST00000306796.5_Silent_p.I301I			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	301					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	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)			TCACAGCAGCGATGCCCTCCA	0.692000													5	42					0	0	1	0	0
VEGFA	7422	broad.mit.edu	37	6	43738886	43738886	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr6:43738886G>C	ENST00000372067.3	+	1	937	c.443G>C	c.(442-444)aGa>aCa	p.R148T	VEGFA_ENST00000413642.3_Missense_Mutation_p.R148T|VEGFA_ENST00000372064.4_Missense_Mutation_p.R148T|VEGFA_ENST00000520948.1_5'UTR|VEGFA_ENST00000417285.2_Missense_Mutation_p.R148T|VEGFA_ENST00000324450.6_Missense_Mutation_p.R148T|VEGFA_ENST00000372077.4_5'UTR|VEGFA_ENST00000425836.2_Missense_Mutation_p.R148T|VEGFA_ENST00000482630.2_Missense_Mutation_p.R148T|VEGFA_ENST00000372055.4_Missense_Mutation_p.R148T	NM_001025366.2|NM_001025367.2|NM_001025368.2|NM_001025369.2|NM_001033756.2|NM_001171623.1|NM_001171624.1|NM_001171625.1|NM_001171626.1|NM_001171627.1|NM_001171629.1|NM_003376.5	NP_001020537.2|NP_001020538.2|NP_001020539|NP_001020540.2|NP_001028928.1|NP_001165094.1|NP_001165095.1|NP_001165096.1|NP_001165097.1|NP_001165098.1|NP_001165100.1|NP_003367.4	P15692	VEGFA_HUMAN	vascular endothelial growth factor A	0					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	CGGGGAGGAAGAGTAGCTCGC	0.776000													10	12					0	0	1	0	0
OR4P4	81300	broad.mit.edu	37	11	55406210	55406210	+	Missense_Mutation	SNP	A	A	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr11:55406210A>G	ENST00000314612.2	+	1	377	c.377A>G	c.(376-378)aAg>aGg	p.K126R		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GCCATTTGCAAGCCCCTGCAC	0.413000													20	48					0	0	1	0	0
ATRN	8455	broad.mit.edu	37	20	3581669	3581669	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr20:3581669C>G	ENST00000262919.5	+	23	3709	c.3641C>G	c.(3640-3642)tCa>tGa	p.S1214*	ATRN_ENST00000446916.2_Nonsense_Mutation_p.S1214*	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1214					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GCCAGTTTCTCAGGTAAAGAC	0.423000													7	73					0	0	1	0	0
C2CD2L	9854	broad.mit.edu	37	11	118981783	118981783	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr11:118981783C>T	ENST00000336702.3	+	5	1062	c.703C>T	c.(703-705)Ctc>Ttc	p.L235F	C2CD2L_ENST00000528586.1_5'UTR	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	235						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						ACAAGTGGAGCTCTCCACAAT	0.572000													21	251					0	0	1	0	0
NUP133	55746	broad.mit.edu	37	1	229633913	229633913	+	Silent	SNP	A	A	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:229633913A>G	ENST00000261396.3	-	6	880	c.789T>C	c.(787-789)ttT>ttC	p.F263F	NUP133_ENST00000537506.1_Silent_p.F247F	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	263					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				ATAAAATTCCAAAAAGAGAAG	0.358000													19	28					0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76788699	76788699	+	Missense_Mutation	SNP	G	G	A	rs77402118		TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr10:76788699G>A	ENST00000287239.4	+	18	4606	c.4117G>A	c.(4117-4119)Gaa>Aaa	p.E1373K	KAT6B_ENST00000372724.1_Missense_Mutation_p.E1081K|KAT6B_ENST00000372725.1_Missense_Mutation_p.E1081K|KAT6B_ENST00000372714.1_Missense_Mutation_p.E1081K|KAT6B_ENST00000372711.1_Missense_Mutation_p.E1190K	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1373	Poly-Glu.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										ggaagaagaagaaggaggagg	0.448000													4	24					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164572	139164572	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr8:139164572G>A	ENST00000395297.1	-	13	2316	c.2146C>T	c.(2146-2148)Ccg>Tcg	p.P716S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	716										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CGAACAAACGGGTGCAAGACT	0.562000										HNSCC(54;0.14)			8	38					0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	592511	592511	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr6:592511G>C	ENST00000230449.4	-	11	1285	c.1150C>G	c.(1150-1152)Ctc>Gtc	p.L384V	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	384					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CTGTGCATGAGCTGAAGGATC	0.463000													7	84					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152320601	152320601	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr2:152320601G>C	ENST00000243326.5	+	29	5050	c.4567G>C	c.(4567-4569)Gat>Cat	p.D1523H	RIF1_ENST00000430328.2_Missense_Mutation_p.D1523H|RIF1_ENST00000444746.2_Missense_Mutation_p.D1523H|RIF1_ENST00000453091.2_Missense_Mutation_p.D1523H|RIF1_ENST00000428287.2_Missense_Mutation_p.D1523H			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GGACATTGTAGATAAGTCCTC	0.428000													10	60					0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120350854	120350854	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr11:120350854G>A	ENST00000397843.2	+	38	4118	c.3952G>A	c.(3952-3954)Gga>Aga	p.G1318R	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.G1299R|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.G1215R	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1318					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CTTTAGAACTGGAACTGGTGA	0.498000			T	MLL	AML								21	130					0	0	1	0	0
ZNF343	79175	broad.mit.edu	37	20	2463999	2463999	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr20:2463999G>A	ENST00000278772.4	-	6	2095	c.1608C>T	c.(1606-1608)ctC>ctT	p.L536L	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CATGTACAATGAGGGTTGACT	0.507000													40	89					0	0	1	0	0
RRP15	51018	broad.mit.edu	37	1	218504365	218504365	+	Missense_Mutation	SNP	G	G	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:218504365G>T	ENST00000366932.3	+	5	811	c.781G>T	c.(781-783)Gac>Tac	p.D261Y		NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	261						mitochondrion|nucleolus	protein binding		ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		ATCTATGAAAGACTGGGACAA	0.408000													4	36					0.00024832	0.000254647	1	1	0
HIST1H3H	8357	broad.mit.edu	37	6	27777950	27777950	+	Silent	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr6:27777950C>T	ENST00000369163.2	+	1	109	c.99C>T	c.(97-99)acC>acT	p.T33T		NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	33					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						CTCCGGCCACCGGCGGTGTCA	0.657000													10	115					0	0	1	0	0
PDS5B	23047	broad.mit.edu	37	13	33320235	33320235	+	Silent	SNP	C	C	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr13:33320235C>A	ENST00000315596.10	+	24	2919	c.2733C>A	c.(2731-2733)atC>atA	p.I911I		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	911					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CATTAGCTATCAACGTAAGGA	0.383000													17	39					3.45872e-05	3.56196e-05	1	1	0
ARMC6	93436	broad.mit.edu	37	19	19162550	19162550	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:19162550G>C	ENST00000535612.1	+	5	831	c.399G>C	c.(397-399)caG>caC	p.Q133H	ARMC6_ENST00000546344.1_Missense_Mutation_p.Q40H|ARMC6_ENST00000392336.3_Missense_Mutation_p.Q133H|ARMC6_ENST00000392335.2_Missense_Mutation_p.Q108H|ARMC6_ENST00000269932.6_Missense_Mutation_p.Q108H	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	133							protein binding	p.Q108Q(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			TCGCGGCCCAGAAGGGGGCCT	0.637000													36	58					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9087894	9087894	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:9087894C>T	ENST00000397910.4	-	1	4124	c.3921G>A	c.(3919-3921)atG>atA	p.M1307I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1307	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						CAGGAGCTGTCATCTCAGGTG	0.502000													9	107					0	0	1	0	0
MOCOS	55034	broad.mit.edu	37	18	33785188	33785188	+	Silent	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr18:33785188C>T	ENST00000261326.5	+	6	1188	c.1167C>T	c.(1165-1167)atC>atT	p.I389I		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	389					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	AGGGCCCAATCATCAATTTTA	0.498000													9	104					0	0	1	0	0
MIR411	693121	broad.mit.edu	37	14	101489693	101489693	+	RNA	SNP	G	G	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr14:101489693G>T	ENST00000362239.2	+	0	32					NR_030389.1																						ACCGTATAGCGTACGCTTTAT	0.532000													21	26					2.27731e-05	2.3503e-05	1	1	0
NUP153	9972	broad.mit.edu	37	6	17688732	17688732	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr6:17688732G>A	ENST00000262077.2	-	2	228	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C	NUP153_ENST00000537253.1_Missense_Mutation_p.R77C	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	77					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TCTGGCCAGCGTGGAACCTCG	0.438000													8	116					0	0	1	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153271632	153271632	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:153271632G>A	ENST00000290722.1	-	6	856	c.804C>T	c.(802-804)ttC>ttT	p.F268F		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	268	Interaction with murein.				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAATATCGTTGAATCCATAAG	0.517000													6	57					0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21331569	21331569	+	Missense_Mutation	SNP	C	C	T	rs138965366		TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr12:21331569C>T	ENST00000256958.2	+	6	637	c.541C>T	c.(541-543)Cgt>Tgt	p.R181C		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	181					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.R181C(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TAATATGCTTCGTGGAATAGG	0.348000													8	97					0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27445166	27445166	+	Silent	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr17:27445166C>T	ENST00000527372.1	-	10	2115	c.1935G>A	c.(1933-1935)ctG>ctA	p.L645L	MYO18A_ENST00000533112.1_Silent_p.L645L|MYO18A_ENST00000531253.1_Silent_p.L645L|MYO18A_ENST00000354329.4_Silent_p.L645L	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	645	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TGGCCGCCTGCAGCTTACTAA	0.602000													8	17					0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44933102	44933102	+	Missense_Mutation	SNP	A	A	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:44933102A>C	ENST00000291187.4	-	6	2158	c.1836T>G	c.(1834-1836)caT>caG	p.H612Q	ZNF229_ENST00000588931.1_Missense_Mutation_p.H618Q|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	618					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GGACCCTCTGATGGATAAGGA	0.542000													12	119					0	0	1	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46388427	46388427	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:46388427C>G	ENST00000302165.3	-	1	949	c.606G>C	c.(604-606)caG>caC	p.Q202H		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CCGCATTCCTCTGCTGCTTCT	0.647000													13	258					0	0	1	0	0
MED29	55588	broad.mit.edu	37	19	39884239	39884239	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:39884239G>A	ENST00000315588.5	+	3	434	c.385G>A	c.(385-387)Gag>Aag	p.E129K	MED29_ENST00000594368.1_Missense_Mutation_p.E108K|MED29_ENST00000599213.2_Missense_Mutation_p.E108K	NM_017592.1	NP_060062.1	Q9NX70	MED29_HUMAN	mediator complex subunit 29	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GTGCCTGGAAGAGTTCTATGC	0.488000													21	247					0	0	1	0	0
RBM10	8241	broad.mit.edu	37	X	47045016	47045016	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chrX:47045016C>T	ENST00000377604.3	+	20	3084	c.2342C>T	c.(2341-2343)tCa>tTa	p.S781L	RBM10_ENST00000345781.6_Missense_Mutation_p.S704L|RBM10_ENST00000329236.7_Missense_Mutation_p.S703L	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	781					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CAGCAGCTCTCAGGGCTCCAC	0.627000													4	5					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121652343	121652343	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr7:121652343G>A	ENST00000393386.2	+	12	3654	c.3243G>A	c.(3241-3243)ttG>ttA	p.L1081L	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1081					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TAAATAAGTTGAATGCGTCTT	0.403000													12	58					0	0	1	0	0
CBL	867	broad.mit.edu	37	11	119149279	119149279	+	Silent	SNP	C	C	T	rs148368481		TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr11:119149279C>T	ENST00000264033.4	+	9	1663	c.1287C>T	c.(1285-1287)atC>atT	p.I429I		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	429	Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.G397_I429del(1)|p.I429_F434del(1)|p.I429I(1)|p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CTGAACCCATCGTGGTAGATC	0.473000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				30	67					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215876760	215876760	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr2:215876760G>A	ENST00000272895.7	-	16	2275	c.2056C>T	c.(2056-2058)Ccg>Tcg	p.P686S	ABCA12_ENST00000389661.4_Missense_Mutation_p.P368S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	686					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCTAGCAGCGGATGTGTGCCA	0.423000													16	128					0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9965402	9965402	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:9965402G>A	ENST00000264833.4	-	6	1010	c.825C>T	c.(823-825)aaC>aaT	p.N275N	OLFM2_ENST00000590841.1_Silent_p.N197N	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	275	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						ACAGGGAGCCGTTGTACACCA	0.607000													4	37					0	0	1	0	0
NFATC3	4775	broad.mit.edu	37	16	68208294	68208294	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr16:68208294G>C	ENST00000349223.5	+	6	2016	c.1792G>C	c.(1792-1794)Gaa>Caa	p.E598Q	NFATC3_ENST00000575270.1_Missense_Mutation_p.E598Q|NFATC3_ENST00000346183.3_Missense_Mutation_p.E598Q|NFATC3_ENST00000329524.4_Missense_Mutation_p.E598Q|NFATC3_ENST00000535127.2_3'UTR	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	598					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GTCTGCTCAAGAACTTCCTCA	0.318000													38	198					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29162399	29162399	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr17:29162399C>G	ENST00000321990.4	+	2	1678	c.1300C>G	c.(1300-1302)Cta>Gta	p.L434V	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	434					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TGAAAAATGTCTATATGAAGT	0.313000													8	55					0	0	1	0	0
CEP57	9702	broad.mit.edu	37	11	95532470	95532470	+	Silent	SNP	T	T	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr11:95532470T>C	ENST00000325542.5	+	2	358	c.120T>C	c.(118-120)ccT>ccC	p.P40P	CEP57_ENST00000325486.5_Silent_p.P40P|CEP57_ENST00000538658.1_Silent_p.P40P|CEP57_ENST00000537677.1_Silent_p.P13P|CEP57_ENST00000541150.1_Silent_p.P31P	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	40					fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TAGTATATCCTTCGGATAAGC	0.423000									Mosaic Variegated Aneuploidy Syndrome				22	59					0	0	1	0	0
PCBP1	5093	broad.mit.edu	37	2	70315482	70315482	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr2:70315482G>A	ENST00000303577.5	+	1	898	c.607G>A	c.(607-609)Gac>Aac	p.D203N	PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	203					nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						TCGGTGCAGCGACGCTGCGGG	0.627000													5	49					0	0	1	0	0
C9orf170	401535	broad.mit.edu	37	9	89771598	89771598	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr9:89771598G>C	ENST00000375941.2	+	2	366	c.279G>C	c.(277-279)ttG>ttC	p.L93F		NM_001001709.2	NP_001001709.1	A2RU37	CI170_HUMAN	chromosome 9 open reading frame 170	93										large_intestine(3)|lung(2)|prostate(1)	6						aaaacctCTTGATAGATGTCA	0.403000													14	26					0	0	1	0	0
MTHFD1	4522	broad.mit.edu	37	14	64891572	64891572	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr14:64891572G>A	ENST00000545908.1	+	9	1175	c.946G>A	c.(946-948)Gag>Aag	p.E316K	CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000216605.8_Missense_Mutation_p.E260K			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	260	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GGCATACGACGAGGCCAAAGA	0.468000													22	35					0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53573345	53573345	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:53573345C>T	ENST00000601421.1	-	3	1210	c.334G>A	c.(334-336)Gac>Aac	p.D112N	ZNF160_ENST00000429604.1_Missense_Mutation_p.D148N|ZNF160_ENST00000599056.1_Missense_Mutation_p.D148N|ZNF160_ENST00000418871.1_Missense_Mutation_p.D148N			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	148					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TTTCCTGTGTCATCTCTCCAT	0.423000													20	73					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103148936	103148936	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr2:103148936G>C	ENST00000295269.4	+	12	2643	c.2186G>C	c.(2185-2187)aGa>aCa	p.R729T		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	729					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			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						GGTTATCAAAGAAACACAAGC	0.483000													4	45					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32463093	32463093	+	Missense_Mutation	SNP	C	C	A	rs146885321		TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr8:32463093C>A	ENST00000341377.5	+	3	809	c.292C>A	c.(292-294)Cgc>Agc	p.R98S	NRG1_ENST00000287845.5_Missense_Mutation_p.R98S|NRG1_ENST00000405005.3_Missense_Mutation_p.R98S|NRG1_ENST00000520407.1_Missense_Mutation_p.R313S|NRG1_ENST00000523079.1_Missense_Mutation_p.R98S|NRG1_ENST00000519301.1_Missense_Mutation_p.R77S|NRG1_ENST00000338921.4_Missense_Mutation_p.R98S|NRG1_ENST00000356819.4_Missense_Mutation_p.R98S|NRG1_ENST00000287842.3_Missense_Mutation_p.R98S|NRG1_ENST00000521670.1_Missense_Mutation_p.R98S	NM_013964.3	NP_039258.1	Q02297	NRG1_HUMAN	neuregulin 1	98	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GTCAGAACTTCGCATTAACAA	0.383000													21	50					4.59853e-10	4.90307e-10	1	1	0
SVIL	6840	broad.mit.edu	37	10	29839871	29839871	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr10:29839871C>T	ENST00000375398.2	-	8	931	c.482G>A	c.(481-483)aGa>aAa	p.R161K	SVIL_ENST00000355867.4_Missense_Mutation_p.R161K|SVIL_ENST00000375400.3_Missense_Mutation_p.R161K			O95425	SVIL_HUMAN	supervillin	161	Interaction with MYLK (By similarity).				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACTAGCATCTCTGCTTGACTC	0.562000													31	147					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	152132791	152132791	+	Silent	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr7:152132791C>T	ENST00000355193.2	-	1	299	c.81G>A	c.(79-81)ccG>ccA	p.P27P	KMT2C_ENST00000262189.6_Silent_p.P27P					lysine (K)-specific methyltransferase 2C																		CTGCGGGGCTCGGGGCCGGGG	0.657000													3	9					0	0	1	0	0
IRF2BP2	359948	broad.mit.edu	37	1	234744668	234744668	+	Silent	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:234744668G>C	ENST00000366609.3	-	1	603	c.573C>G	c.(571-573)ctC>ctG	p.L191L	IRF2BP2_ENST00000366610.3_Silent_p.L191L|RP4-781K5.2_ENST00000436039.1_RNA	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	191	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			AGCCGTTCATGAGCGGCACCA	0.761000													4	25					0	0	1	0	0
RAB27A	5873	broad.mit.edu	37	15	55522647	55522647	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr15:55522647C>T	ENST00000396307.2	-	3	442	c.191G>A	c.(190-192)aGa>aAa	p.R64K	RAB27A_ENST00000569493.1_Missense_Mutation_p.R64K|RAB27A_ENST00000336787.1_Missense_Mutation_p.R64K|RAB27A_ENST00000564609.1_Missense_Mutation_p.R64K	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	64					small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		TCTCTGGCCTCTGCCAGTGGC	0.483000													20	49					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15573141	15573141	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr10:15573141C>G	ENST00000378076.3	-	28	3243	c.2890G>C	c.(2890-2892)Gat>Cat	p.D964H		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	964					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GCATAGGGATCATTTTTTCTC	0.338000													8	112					0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194061849	194061849	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr3:194061849C>G	ENST00000323830.3	-	2	1672	c.1583G>C	c.(1582-1584)aGc>aCc	p.S528T	CPN2_ENST00000429275.1_Missense_Mutation_p.S528T	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	528					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		AGAACCGCAGCTCGACCTCAG	0.647000													3	26					0	0	1	0	0
CPB1	1360	broad.mit.edu	37	3	148575267	148575267	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr3:148575267G>A	ENST00000491148.1	+	11	1339	c.1005G>A	c.(1003-1005)gtG>gtA	p.V335V	CPB1_ENST00000498639.1_3'UTR|CPB1_ENST00000282957.4_Silent_p.V335V|RP11-680B3.2_ENST00000488190.1_RNA			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	335					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AAGCTACTGTGAAAGAACTTG	0.428000													5	44					0	0	1	0	0
SLC30A2	7780	broad.mit.edu	37	1	26371561	26371561	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:26371561C>A	ENST00000374278.3	-	2	414	c.198G>T	c.(196-198)aaG>aaT	p.K66N	SLC30A2_ENST00000374276.3_Missense_Mutation_p.K66N|SLC30A2_ENST00000498060.1_5'UTR	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	66					positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity			cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTCCCCTTCTTGGGGTCAC	0.557000													118	144					2.91707e-64	3.23896e-64	1	1	0
KIAA1551	55196	broad.mit.edu	37	12	32135469	32135469	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr12:32135469C>T	ENST00000312561.4	+	4	1994	c.1580C>T	c.(1579-1581)tCa>tTa	p.S527L	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639			KIAA1551																		GTTCTCACTTCAAAGACATCA	0.398000													8	31					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579358	7579358	+	Missense_Mutation	SNP	C	C	A	rs11540654		TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr17:7579358C>A	ENST00000420246.2	-	4	461	c.329G>T	c.(328-330)cGt>cTt	p.R110L	TP53_ENST00000269305.4_Missense_Mutation_p.R110L|TP53_ENST00000445888.2_Missense_Mutation_p.R110L|TP53_ENST00000455263.2_Missense_Mutation_p.R110L|TP53_ENST00000413465.2_Missense_Mutation_p.R110L|TP53_ENST00000359597.4_Missense_Mutation_p.R110L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	110	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAAGCCCAGACGGAAACCGTA	0.612000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			24	70					4.72057e-08	4.98914e-08	1	1	0
CBX2	84733	broad.mit.edu	37	17	77757654	77757654	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr17:77757654G>A	ENST00000310942.4	+	5	516	c.412G>A	c.(412-414)Gag>Aag	p.E138K		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	138					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCGGGGCCGCGAGACCCACCC	0.612000													15	37					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99548167	99548167	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr12:99548167C>T	ENST00000547776.2	-	15	2425	c.2426G>A	c.(2425-2427)aGa>aAa	p.R809K	ANKS1B_ENST00000549493.2_Missense_Mutation_p.R35K|ANKS1B_ENST00000549025.2_5'UTR|ANKS1B_ENST00000547010.1_Missense_Mutation_p.R385K|ANKS1B_ENST00000546568.1_Missense_Mutation_p.R35K|ANKS1B_ENST00000550693.2_Missense_Mutation_p.R35K|ANKS1B_ENST00000546960.1_Missense_Mutation_p.R35K|ANKS1B_ENST00000332712.7_Missense_Mutation_p.R35K|ANKS1B_ENST00000329257.7_Missense_Mutation_p.R809K|ANKS1B_ENST00000549558.2_Missense_Mutation_p.R35K|ANKS1B_ENST00000547446.1_Missense_Mutation_p.R4K	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	809						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		p.R809K(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GACAGGGCATCTGGGTCCTGT	0.517000													22	35					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29821582	29821582	+	Missense_Mutation	SNP	C	C	G	rs139861438		TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr10:29821582C>G	ENST00000375398.2	-	10	2163	c.1714G>C	c.(1714-1716)Gag>Cag	p.E572Q	SVIL_ENST00000355867.4_Missense_Mutation_p.E572Q|SVIL_ENST00000375400.3_Intron			O95425	SVIL_HUMAN	supervillin	572					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CTGGGCAGCTCCAGCTCTCTC	0.582000													74	75					0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103289462	103289462	+	Missense_Mutation	SNP	A	A	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr13:103289462A>G	ENST00000376052.3	+	14	1725	c.1709A>G	c.(1708-1710)cAt>cGt	p.H570R	TPP2_ENST00000376065.4_Missense_Mutation_p.H570R			P29144	TPP2_HUMAN	tripeptidyl peptidase II	570					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTCAGCTTCATTTAGCTCTG	0.363000													8	52					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176268	57176268	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:57176268C>T	ENST00000537055.2	-	2	530	c.299G>A	c.(298-300)cGg>cAg	p.R100Q		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						ACCTCTCTCCCGCTGGCGGCT	0.637000													28	53					0	0	1	0	0
LDHB	3945	broad.mit.edu	37	12	21788484	21788484	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr12:21788484C>G	ENST00000396076.1	-	8	1329	c.997G>C	c.(997-999)Gac>Cac	p.D333H	LDHB_ENST00000350669.1_Missense_Mutation_p.D333H	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	333					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity	p.D333Y(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26					NADH(DB00157)	AGTCACAGGTCTTTTAGGTCC	0.423000													9	148					0	0	1	0	0
MARK4	57787	broad.mit.edu	37	19	45805728	45805728	+	Silent	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:45805728G>C	ENST00000262891.4	+	17	2350	c.2019G>C	c.(2017-2019)ctG>ctC	p.L673L	MARK4_ENST00000300843.4_3'UTR	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	673					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CTGAGGCCCTGATGGCAGCTC	0.706000													68	194					0	0	1	0	0
ASB16	92591	broad.mit.edu	37	17	42248327	42248327	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr17:42248327G>A	ENST00000293414.1	+	1	254	c.170G>A	c.(169-171)cGa>cAa	p.R57Q		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	57					intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CGTTCCTGCCGAGACCCAGCT	0.662000													4	49					0	0	1	0	0
ZBTB9	221504	broad.mit.edu	37	6	33422949	33422949	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr6:33422949G>A	ENST00000395064.2	+	2	340	c.72G>A	c.(70-72)caG>caA	p.Q24Q		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						GGACAATCCAGATCGAGTTCC	0.597000													37	151					0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27745372	27745372	+	Nonsense_Mutation	SNP	C	C	T	rs146053779	byFrequency	TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr2:27745372C>T	ENST00000264717.2	+	18	1681	c.1618C>T	c.(1618-1620)Cga>Tga	p.R540*	GCKR_ENST00000424318.2_Nonsense_Mutation_p.R350*	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	540			R -> Q (in dbSNP:rs8179249).		carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					GAGCCTCCTCCGAGCGATCCA	0.537000													25	87					0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53668301	53668301	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:53668301G>C	ENST00000600412.1	-	2	1362	c.1247C>G	c.(1246-1248)tCt>tGt	p.S416C	ZNF665_ENST00000396424.3_Missense_Mutation_p.S481C			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TTTCTCTCCAGAATGAATTCC	0.413000													23	49					0	0	1	0	0
FAR2	55711	broad.mit.edu	37	12	29486714	29486714	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr12:29486714C>T	ENST00000536681.3	+	12	1781	c.1535C>T	c.(1534-1536)aCg>aTg	p.T512M	FAR2_ENST00000182377.4_Missense_Mutation_p.T512M|FAR2_ENST00000547116.1_Missense_Mutation_p.T415M	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2						ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						GCATCCAGCACGCTCAAAGTT	0.408000													21	61					0	0	1	0	0
NFIB	4781	broad.mit.edu	37	9	14146806	14146806	+	Splice_Site	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr9:14146806G>C	ENST00000380959.3	-	6	1280	c.807C>G	c.(805-807)agC>agG	p.S269R	NFIB_ENST00000380934.4_Splice_Site_p.S295R|NFIB_ENST00000397581.2_Splice_Site_p.S269R|NFIB_ENST00000380924.1_Splice_Site_p.S17R|NFIB_ENST00000397579.2_Splice_Site_p.S269R|NFIB_ENST00000543693.1_Splice_Site_p.S17R|NFIB_ENST00000397575.3_Splice_Site_p.S269R|NFIB_ENST00000380953.1_Splice_Site_p.S269R	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	269					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		TGGGTCTTTTGCTGTTAAAAT	0.358000			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""								13	81					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110455234	110455234	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr8:110455234G>A	ENST00000378402.5	+	36	4557	c.4453G>A	c.(4453-4455)Gat>Aat	p.D1485N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1485					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CGGGTATGTTGATGAGGCTCA	0.398000										HNSCC(38;0.096)			43	107					0	0	1	0	0
MPRIP	23164	broad.mit.edu	37	17	17061867	17061867	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr17:17061867G>A	ENST00000395811.5	+	14	1686	c.1597G>A	c.(1597-1599)Gag>Aag	p.E533K	MPRIP_ENST00000341712.4_Missense_Mutation_p.E533K|MPRIP_ENST00000444976.1_Missense_Mutation_p.E495K|MPRIP_ENST00000395804.3_Missense_Mutation_p.E533K	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	533						cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CCGCGCACGGGAGCGGAGGCG	0.677000													6	30					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179599144	179599144	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr2:179599144G>A	ENST00000589042.1	-	52	15631	c.15407C>T	c.(15406-15408)tCg>tTg	p.S5136L	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S3892L|TTN_ENST00000591111.1_Missense_Mutation_p.S4819L|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4819	Ig-like 32.						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)			ACTATTAAACGAAAAGATCTC	0.383000													10	102					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111664144	111664144	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr3:111664144G>C	ENST00000431670.2	+	9	2838	c.2427G>C	c.(2425-2427)aaG>aaC	p.K809N	PHLDB2_ENST00000393925.3_Missense_Mutation_p.K809N|PHLDB2_ENST00000481953.1_Missense_Mutation_p.K766N|PHLDB2_ENST00000495180.1_Missense_Mutation_p.K395N|PHLDB2_ENST00000393923.3_Missense_Mutation_p.K793N|PHLDB2_ENST00000412622.1_Missense_Mutation_p.K766N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	809						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						ATTTGGAAAAGAAATACTCCA	0.388000													4	30					0	0	1	0	0
NRARP	441478	broad.mit.edu	37	9	140196072	140196072	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr9:140196072G>A	ENST00000356628.2	-	1	631	c.309C>T	c.(307-309)ctC>ctT	p.L103L		NM_001004354.2	NP_001004354.1	Q7Z6K4	NRARP_HUMAN	NOTCH-regulated ankyrin repeat protein	103					negative regulation of Notch signaling pathway|positive regulation of canonical Wnt receptor signaling pathway					lung(3)	3	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.185)	OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000273)		CCTTGGTGATGAGATAGAGCA	0.701000													5	37					0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24652224	24652224	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr14:24652224G>A	ENST00000354464.6	-	23	2555	c.2379C>T	c.(2377-2379)ctC>ctT	p.L793L	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	793					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		AGAGCTCAGCGAGGCGCCCAG	0.682000													47	52					0	0	1	0	0
WNT3	7473	broad.mit.edu	37	17	44845959	44845959	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr17:44845959G>A	ENST00000225512.5	-	4	957	c.795C>T	c.(793-795)ctC>ctT	p.L265L		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	265					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GTGGCTTGAAGAGCGAGTACT	0.587000													32	125					0	0	1	0	0
TRAF2	7186	broad.mit.edu	37	9	139814689	139814689	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr9:139814689G>A	ENST00000359662.3	+	8	883	c.838G>A	c.(838-840)Gag>Aag	p.E280K	TRAF2_ENST00000482854.1_3'UTR|TRAF2_ENST00000247668.2_Missense_Mutation_p.E228K|TRAF2_ENST00000536468.1_Missense_Mutation_p.E228K			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	228				Missing (in Ref. 2; BAB70792).	activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		TCCGCAGGTAGAGGGTGAGAA	0.657000													4	36					0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42613323	42613323	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr6:42613323G>A	ENST00000372901.1	+	21	2662	c.2404G>A	c.(2404-2406)Gaa>Aaa	p.E802K	UBR2_ENST00000372883.3_Missense_Mutation_p.E306K|UBR2_ENST00000372899.1_Missense_Mutation_p.E802K			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	802					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GTCTTTACCTGAAGATGTAAG	0.358000													6	74					0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52908953	52908953	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr12:52908953G>A	ENST00000252242.4	-	9	1936	c.1546C>T	c.(1546-1548)Ctt>Ttt	p.L516F		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	516	Tail.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		ccgccgccaagacctccaccg	0.622000													5	25					0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8375060	8375060	+	Silent	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr12:8375060G>C	ENST00000538603.1	-	7	1311	c.753C>G	c.(751-753)ctC>ctG	p.L251L	FAM90A1_ENST00000307435.6_Silent_p.L251L	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	251							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TGACGGCCTGGAGCAGGCCGT	0.662000													25	176					0	0	1	0	0
FAM193B	54540	broad.mit.edu	37	5	176963494	176963494	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr5:176963494G>A	ENST00000443375.2	-	5	2160	c.602C>T	c.(601-603)tCc>tTc	p.S201F	FAM193B_ENST00000508298.1_Intron|FAM193B_ENST00000329540.5_5'UTR|FAM193B_ENST00000514747.1_Missense_Mutation_p.S314F			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	268										kidney(1)|large_intestine(3)	4						CATGCTGGTGGAGGGTAGATG	0.667000													4	13					0	0	1	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57867440	57867440	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr12:57867440G>C	ENST00000393797.2	-	20	2432	c.2240C>G	c.(2239-2241)tCa>tGa	p.S747*	ARHGAP9_ENST00000430041.2_Nonsense_Mutation_p.S473*|ARHGAP9_ENST00000393791.3_Nonsense_Mutation_p.S657*|ARHGAP9_ENST00000550288.1_Silent_p.L730L|ARHGAP9_ENST00000424809.2_Intron|ARHGAP9_ENST00000356411.2_Nonsense_Mutation_p.S676*			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	676	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CTTTGGCATTGAGCCTATTAA	0.488000													24	41					0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50450326	50450326	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr7:50450326G>A	ENST00000331340.3	+	5	665	c.510G>A	c.(508-510)gaG>gaA	p.E170E	IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000359197.5_Silent_p.E170E|IKZF1_ENST00000439701.1_Silent_p.E170E|IKZF1_ENST00000440768.2_Silent_p.E170E|IKZF1_ENST00000357364.4_Silent_p.E170E|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000438033.1_Silent_p.E83E|IKZF1_ENST00000343574.5_Silent_p.E83E	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	170					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				ATTCCGGGGAGAAGCCCTTCA	0.637000			"""D,T"""	BCL6	"""ALL, DLBCL"""								4	37					0	0	1	0	0
MED10	84246	broad.mit.edu	37	5	6378513	6378513	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr5:6378513G>A	ENST00000255764.3	-	1	194	c.84C>T	c.(82-84)gaC>gaT	p.D28D		NM_032286.2	NP_115662.2	Q9BTT4	MED10_HUMAN	mediator complex subunit 10	28					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						TGGGCTGGAAGTCACTGACGA	0.657000													7	67					0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	618099	618099	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr11:618099G>C	ENST00000358353.3	-	15	2295	c.1973C>G	c.(1972-1974)tCg>tGg	p.S658W	CDHR5_ENST00000397542.2_Missense_Mutation_p.S658W|CDHR5_ENST00000349570.7_Missense_Mutation_p.S464W			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	658					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CTTGTCCTCCGAGGGGCCGCC	0.657000													5	33					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209103910	209103910	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr2:209103910C>T	ENST00000415913.1	-	9	1420	c.1039G>A	c.(1039-1041)Gat>Aat	p.D347N	IDH1_ENST00000446179.1_Missense_Mutation_p.D347N|IDH1_ENST00000345146.2_Missense_Mutation_p.D347N	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	347					2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TTATTGTTATCAAGCTTTGCT	0.428000			Mis		gliobastoma								9	22					0	0	1	0	0
DENND2D	79961	broad.mit.edu	37	1	111730280	111730280	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:111730280C>T	ENST00000357640.4	-	12	1592	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K	DENND2D_ENST00000369752.5_Missense_Mutation_p.E452K	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	455										breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		TCCTCATATTCAAGTATTTTC	0.398000													5	11					0	0	1	0	0
C9orf153	389766	broad.mit.edu	37	9	88842816	88842816	+	Missense_Mutation	SNP	A	A	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr9:88842816A>G	ENST00000339137.3	-	3	329	c.196T>C	c.(196-198)Ttc>Ctc	p.F66L	C9orf153_ENST00000469914.1_Intron|C9orf153_ENST00000376001.3_Missense_Mutation_p.F66L	NM_001276367.1|NM_001276368.1	NP_001263296.1|NP_001263297.1	Q5TBE3	CI153_HUMAN	chromosome 9 open reading frame 153	66										breast(1)|lung(1)	2						CCCCTGGTGAATGACATGACA	0.418000													8	52					0	0	1	0	0
OXSM	54995	broad.mit.edu	37	3	25833190	25833190	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr3:25833190G>A	ENST00000280701.3	+	2	778	c.679G>A	c.(679-681)Gat>Aat	p.D227N	OXSM_ENST00000420173.2_Intron|OXSM_ENST00000449808.1_Intron	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	227					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						AGCCCATGGTGATGCTGATGT	0.483000													33	75					0	0	1	0	0
FABP9	646480	broad.mit.edu	37	8	82370637	82370637	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr8:82370637C>G	ENST00000379071.2	-	4	435	c.380G>C	c.(379-381)aGa>aCa	p.R127T	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	127							lipid binding|transporter activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			TTCGTAGATTCTGGTGCTGAC	0.418000													13	44					0	0	1	0	0
GBP1P1	400759	broad.mit.edu	37	1	89885815	89885815	+	RNA	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:89885815C>T	ENST00000513638.1	+	0	355					NR_003133.2																						TATGCCCCATCCCAAGAAGCC	0.542000													30	60					0	0	1	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48598822	48598822	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:48598822G>A	ENST00000354276.3	-	7	935	c.608C>T	c.(607-609)tCt>tTt	p.S203F	PLA2G4C_ENST00000599921.1_Missense_Mutation_p.S203F|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.S213F|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.S203F	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	203	PLA2c.		S -> P (in dbSNP:rs156631).		arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CCCCAGTGCAGAGAAGCCAGC	0.522000													17	169					0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32964998	32964998	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr17:32964998C>A	ENST00000321639.5	+	10	3030	c.2702C>A	c.(2701-2703)tCg>tAg	p.S901*		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	901						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GACGGCTCCTCGGGCGGCTCA	0.701000													4	14					2.56e-06	2.67058e-06	1	1	0
CEP112	201134	broad.mit.edu	37	17	64062905	64062905	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr17:64062905C>G	ENST00000392769.2	-	10	1164	c.946G>C	c.(946-948)Gaa>Caa	p.E316Q	CEP112_ENST00000535342.2_Missense_Mutation_p.E316Q|CEP112_ENST00000537949.1_Missense_Mutation_p.E274Q|CEP112_ENST00000541355.1_5'UTR	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	316						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						CCTTTCTTTTCAAGCTTTCTA	0.264000													4	22					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450573	85450573	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr12:85450573G>A	ENST00000393217.2	+	8	2063	c.2002G>A	c.(2002-2004)Gaa>Aaa	p.E668K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	668										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GATAAATATAGAAGGCAAAAG	0.348000													21	32					0	0	1	0	0
SAPCD1	401251	broad.mit.edu	37	6	31731225	31731225	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr6:31731225G>A	ENST00000415669.2	+	2	207	c.148G>A	c.(148-150)Gat>Aat	p.D50N	MSH5-SAPCD1_ENST00000493662.2_3'UTR|SAPCD1_ENST00000425424.1_Missense_Mutation_p.D50N|MSH5_ENST00000534153.4_3'UTR	NM_001039651.1	NP_001034740.1	Q5SSQ6	G7D_HUMAN	suppressor APC domain containing 1	50																	GAGAGAACAGGATGCCCTGTG	0.597000													10	125					0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31660538	31660538	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr20:31660538G>C	ENST00000375494.3	+	14	1340	c.1340G>C	c.(1339-1341)gGa>gCa	p.G447A		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	447					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										CTGGATGTTGGAATTCCCCTG	0.493000													18	81					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56482537	56482537	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr12:56482537G>A	ENST00000267101.3	+	9	1434	c.994G>A	c.(994-996)Gag>Aag	p.E332K	ERBB3_ENST00000415288.2_Missense_Mutation_p.E273K|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	332					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.E332K(2)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGCAGCCTGTGAGGGAACAGG	0.522000													50	86					0	0	1	0	0
RIPK3	11035	broad.mit.edu	37	14	24808329	24808329	+	Silent	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr14:24808329C>T	ENST00000216274.5	-	3	581	c.363G>A	c.(361-363)ctG>ctA	p.L121L		NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	121	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		CCACTTCTTTCAGCAGGCGGC	0.622000													43	54					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52535240	52535240	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr3:52535240C>G	ENST00000321725.6	+	2	213	c.137C>G	c.(136-138)tCg>tGg	p.S46W		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	46					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			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)		CCCTGCACCTCGTGCGCGGCC	0.632000													25	232					0	0	1	0	0
CSF3R	1441	broad.mit.edu	37	1	36933215	36933215	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:36933215G>A	ENST00000373103.1	-	15	2449	c.1902C>T	c.(1900-1902)ggC>ggT	p.G634G	CSF3R_ENST00000331941.5_Silent_p.G634G|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000338937.5_Intron|CSF3R_ENST00000418048.2_Silent_p.G634G|CSF3R_ENST00000361632.4_Silent_p.G634G|CSF3R_ENST00000440588.2_Silent_p.G634G|CSF3R_ENST00000373106.1_Silent_p.G634G|CSF3R_ENST00000373104.1_Silent_p.G634G	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	634					cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	ACAGCAGGAGGCCGAACAGGC	0.602000													6	40					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227967903	227967903	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr2:227967903C>T	ENST00000396625.3	-	14	1034	c.827G>A	c.(826-828)gGa>gAa	p.G276E	COL4A4_ENST00000329662.7_Missense_Mutation_p.G276E	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	276	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCCAGGAATTCCTTTTATACC	0.313000													4	16					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17434262	17434262	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr11:17434262C>T	ENST00000302539.4	-	21	2635	c.2510G>A	c.(2509-2511)cGa>cAa	p.R837Q	ABCC8_ENST00000389817.3_Missense_Mutation_p.R836Q	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	836	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			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)	CACACTGATTCGCTGGCGTTG	0.582000													8	9					0	0	1	0	0
ZNF595	152687	broad.mit.edu	37	4	59444	59444	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr4:59444C>T	ENST00000509152.2	+	2	310	c.125C>T	c.(124-126)tCc>tTc	p.S42F	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.S42F					zinc finger protein 595											endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		AACCTGGTCTCCCTGGGTGAG	0.433000													23	495					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32089317	32089317	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr5:32089317G>C	ENST00000438447.1	+	20	6151	c.5763G>C	c.(5761-5763)caG>caC	p.Q1921H	PDZD2_ENST00000282493.3_Missense_Mutation_p.Q1921H			O15018	PDZD2_HUMAN	PDZ domain containing 2	1921					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCTCACCCCAGACCTCCCACA	0.602000													12	207					0	0	1	0	0
SCO2	9997	broad.mit.edu	37	22	50962742	50962742	+	Silent	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr22:50962742C>G	ENST00000543927.1	-	2	305	c.99G>C	c.(97-99)ctG>ctC	p.L33L	SCO2_ENST00000252785.3_Silent_p.L33L|CTA-384D8.36_ENST00000608319.1_RNA|SCO2_ENST00000535425.1_Silent_p.L33L|SCO2_ENST00000395693.3_Silent_p.L33L	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	33					cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCCAGGACCTCAGATGCAGGG	0.672000													14	69					0	0	1	0	0
CASKIN1	57524	broad.mit.edu	37	16	2230452	2230452	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr16:2230452C>G	ENST00000343516.6	-	18	3009	c.2917G>C	c.(2917-2919)Gag>Cag	p.E973Q		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	973	Pro-rich.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						AGGCCATCCTCAGGCTCGGCG	0.731000													4	2					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125204409	125204409	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr2:125204409G>A	ENST00000431078.1	+	6	1177	c.813G>A	c.(811-813)tcG>tcA	p.S271S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	271	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACTGGCACTCGGTCCTCATTG	0.612000													6	80					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25342886	25342886	+	RNA	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr15:25342886C>T	ENST00000546682.1	+	0	1229				SNHG14_ENST00000553108.1_RNA|SNORD116-25_ENST00000516517.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						TGTGCCACTTCTGTGAGCTGA	0.458000													7	44					0	0	1	0	0
SESTD1	91404	broad.mit.edu	37	2	180008498	180008498	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr2:180008498G>A	ENST00000428443.3	-	9	986	c.670C>T	c.(670-672)Cga>Tga	p.R224*		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	224					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			CCATTAAATCGACGCTGCTGT	0.378000													8	66					0	0	1	0	0
ZRSR2	8233	broad.mit.edu	37	X	15809081	15809081	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chrX:15809081G>A	ENST00000307771.7	+	2	90	c.66G>A	c.(64-66)ctG>ctA	p.L22L	ZRSR2_ENST00000468028.1_3'UTR|ZRSR2_ENST00000380308.3_Silent_p.L22L	NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	22					spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					GGGCCGCCCTGAAGAAGGAGA	0.512000			"""F, S, Mis"""		"""MDS, CLL"""								4	35					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38924744	38924744	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr3:38924744G>A	ENST00000302328.3	-	18	3397	c.3199C>T	c.(3199-3201)Ctg>Ttg	p.L1067L	SCN11A_ENST00000444237.2_Silent_p.L1067L|SCN11A_ENST00000450244.1_Silent_p.L1067L|SCN11A_ENST00000456224.3_Silent_p.L1029L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1067					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CTGCTCAGCAGAATCACAAAG	0.498000													6	47					0	0	1	0	0
ZNF594	84622	broad.mit.edu	37	17	5086481	5086481	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr17:5086481G>A	ENST00000399604.4	-	1	1211	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F	ZNF594_ENST00000575779.1_Silent_p.F357F			Q96JF6	ZN594_HUMAN	zinc finger protein 594	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CATCCTTGCTGAAGGTTTTCT	0.453000													65	123					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98273428	98273428	+	Silent	SNP	A	A	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr10:98273428A>G	ENST00000357947.3	-	1	240	c.15T>C	c.(13-15)acT>acC	p.T5T	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	5					cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			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)		CCCCAAGTGCAGTCGCCCGGG	0.731000													5	10					0	0	1	0	0
DCAF17	80067	broad.mit.edu	37	2	172291691	172291691	+	Silent	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr2:172291691C>T	ENST00000375255.3	+	2	552	c.225C>T	c.(223-225)gtC>gtT	p.V75V	DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Silent_p.V75V	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	75						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						GGCGCTGTGTCAGCAGGTAAC	0.358000													10	17					0	0	1	0	0
HEMGN	55363	broad.mit.edu	37	9	100692572	100692572	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr9:100692572C>G	ENST00000259456.3	-	4	1248	c.1105G>C	c.(1105-1107)Gaa>Caa	p.E369Q		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	369					cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TGATACGTTTCAGGTGAATAT	0.358000													55	135					0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30955046	30955046	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr6:30955046C>T	ENST00000376296.3	+	2	1335	c.1094C>T	c.(1093-1095)tCc>tTc	p.S365F	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	365	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane		p.S365*(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AACTCTGGGTCCAGCACGACC	0.632000													36	553					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36874441	36874441	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr20:36874441G>C	ENST00000279024.4	-	2	362	c.91C>G	c.(91-93)Cag>Gag	p.Q31E		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	31										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)				CGGAACACCTGACCCAGGACG	0.627000													12	44					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76556103	76556103	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr16:76556103G>A	ENST00000307431.8	+	18	3086	c.2701G>A	c.(2701-2703)Gcc>Acc	p.A901T	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.A829T|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.A853T|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.A905T|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	902	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GACACAGCCCGCCCCCGCTGA	0.488000													10	96					0	0	1	0	0
PAPOLG	64895	broad.mit.edu	37	2	61020772	61020772	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr2:61020772G>A	ENST00000238714.3	+	18	1939	c.1690G>A	c.(1690-1692)Gag>Aag	p.E564K		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	564					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			GAATAGTGCTGAGCCTGCTGC	0.378000													5	43					0	0	1	0	0
EARS2	124454	broad.mit.edu	37	16	23568552	23568552	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr16:23568552C>G	ENST00000449606.1	-	1	144	c.113G>C	c.(112-114)cGa>cCa	p.R38P	EARS2_ENST00000563232.1_Missense_Mutation_p.R38P|EARS2_ENST00000563459.1_Missense_Mutation_p.R38P|EARS2_ENST00000564501.1_Missense_Mutation_p.R38P|UBFD1_ENST00000219638.4_Missense_Mutation_p.S54W	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	38					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	GAACCGCACTCGCACCGCAAC	0.701000													4	25					0	0	1	0	0
MTCH2	23788	broad.mit.edu	37	11	47648675	47648675	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr11:47648675G>A	ENST00000302503.3	-	10	795	c.638C>T	c.(637-639)tCt>tTt	p.S213F	MTCH2_ENST00000534074.1_5'UTR|MTCH2_ENST00000542981.1_Missense_Mutation_p.S65F	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	213					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						ATTCATGGTAGAAACCTAAAA	0.284000													6	13					0	0	1	0	0
HEMGN	55363	broad.mit.edu	37	9	100692518	100692518	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr9:100692518C>T	ENST00000259456.3	-	4	1302	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	387					cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TGGGATGTTTCTTGGTATATT	0.373000													65	157					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761999	92761999	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr7:92761999C>G	ENST00000318238.4	-	5	4502	c.3286G>C	c.(3286-3288)Gag>Cag	p.E1096Q	SAMD9L_ENST00000437805.1_Missense_Mutation_p.E1096Q|SAMD9L_ENST00000411955.1_Missense_Mutation_p.E1096Q	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1096										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AAGTCCTTCTCTTTAATGTAG	0.388000													13	124					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3235240	3235240	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chrX:3235240C>A	ENST00000217939.6	-	6	6636	c.6482G>T	c.(6481-6483)gGa>gTa	p.G2161V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2161	Ig-like C2-type 6.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GAGGGTTCCTCCGTACCTGAC	0.687000													9	8					0.000673444	0.000684786	1	1	0
CCDC85A	114800	broad.mit.edu	37	2	56419630	56419630	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr2:56419630C>T	ENST00000407595.2	+	2	797	c.295C>T	c.(295-297)Cag>Tag	p.Q99*	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	99										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CCAGAAACTCCAGGAAGACAA	0.527000													14	69					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837424	12837424	+	Silent	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:12837424C>T	ENST00000357726.4	+	3	1161	c.1134C>T	c.(1132-1134)ctC>ctT	p.L378L		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	378										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCCCAGCTCAGCACCTTCA	0.622000													15	143					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91851308	91851308	+	Missense_Mutation	SNP	A	A	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:91851308A>G	ENST00000370425.3	-	5	676	c.578T>C	c.(577-579)aTt>aCt	p.I193T	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	193							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TGTTTGTACAATTTTCACTGA	0.303000													13	23					0	0	1	0	0
NFATC4	4776	broad.mit.edu	37	14	24841687	24841687	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr14:24841687C>T	ENST00000413692.2	+	4	1570	c.1426C>T	c.(1426-1428)Caa>Taa	p.Q476*	NFATC4_ENST00000553879.1_Nonsense_Mutation_p.Q343*|NFATC4_ENST00000539237.2_Nonsense_Mutation_p.Q445*|NFATC4_ENST00000553708.1_Nonsense_Mutation_p.Q413*|NFATC4_ENST00000554050.1_Nonsense_Mutation_p.Q413*|NFATC4_ENST00000554591.1_Nonsense_Mutation_p.Q476*|NFATC4_ENST00000424781.2_Nonsense_Mutation_p.Q426*|NFATC4_ENST00000553469.1_Nonsense_Mutation_p.Q445*|NFATC4_ENST00000422617.3_Nonsense_Mutation_p.Q401*|NFATC4_ENST00000554344.1_Nonsense_Mutation_p.Q343*|NFATC4_ENST00000555590.1_Nonsense_Mutation_p.Q426*|NFATC4_ENST00000554661.1_Nonsense_Mutation_p.Q343*|NFATC4_ENST00000556279.1_Nonsense_Mutation_p.Q445*|NFATC4_ENST00000555453.1_Nonsense_Mutation_p.Q401*|NFATC4_ENST00000250373.4_Nonsense_Mutation_p.Q413*|NFATC4_ENST00000556169.1_Nonsense_Mutation_p.Q401*|NFATC4_ENST00000557451.1_Nonsense_Mutation_p.Q343*|NFATC4_ENST00000554966.1_Nonsense_Mutation_p.Q426*	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	413	RHD.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		TCTGCCCAGCCAATATGAGCA	0.617000													43	51					0	0	1	0	0
ANKZF1	55139	broad.mit.edu	37	2	220099551	220099551	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr2:220099551C>T	ENST00000323348.5	+	10	1382	c.1208C>T	c.(1207-1209)tCa>tTa	p.S403L	ANKZF1_ENST00000410034.3_Missense_Mutation_p.S403L|ANKZF1_ENST00000409849.1_Missense_Mutation_p.S193L	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	403						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCCTAGGTTCAGGGTCGGAG	0.458000													9	57					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50721224	50721224	+	Missense_Mutation	SNP	G	G	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr22:50721224G>T	ENST00000449103.1	-	18	3043	c.2903C>A	c.(2902-2904)tCc>tAc	p.S968Y	PLXNB2_ENST00000359337.4_Missense_Mutation_p.S968Y			O15031	PLXB2_HUMAN	plexin B2	968	IPT/TIG 2.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGGCACGGGGGACCCCCCGTA	0.662000													4	43					0.184627	0.185395	1	1	0
KMT2B	9757	broad.mit.edu	37	19	36218514	36218514	+	Silent	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:36218514C>G	ENST00000420124.1	+	16	4293	c.4293C>G	c.(4291-4293)ctC>ctG	p.L1431L	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000222270.7_Silent_p.L1431L					lysine (K)-specific methyltransferase 2B																		CACTGCTGCTCTGCACCCAGG	0.721000													5	74					0	0	1	0	0
LRWD1	222229	broad.mit.edu	37	7	102106607	102106607	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr7:102106607G>A	ENST00000292616.5	+	3	474	c.322G>A	c.(322-324)Gac>Aac	p.D108N		NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	108					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						CCAGGTCAATGACAACCTGAA	0.567000													10	92					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85492210	85492210	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr12:85492210G>A	ENST00000393217.2	+	12	3026	c.2965G>A	c.(2965-2967)Gat>Aat	p.D989N		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	989										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AGGTCTTTGTGATACACCTAC	0.333000													9	24					0	0	1	0	0
RGL1	23179	broad.mit.edu	37	1	183711301	183711301	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:183711301G>A	ENST00000304685.4	+	2	458	c.9G>A	c.(7-9)gtG>gtA	p.V3V	RGL1_ENST00000536277.1_Silent_p.V3V	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1						cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						AGATGGAGGTGAAACCTGTGG	0.438000													7	57					0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119044681	119044681	+	Silent	SNP	C	C	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr11:119044681C>A	ENST00000409109.1	+	5	1310	c.723C>A	c.(721-723)ctC>ctA	p.L241L	NLRX1_ENST00000409991.1_Silent_p.L241L|NLRX1_ENST00000292199.2_Silent_p.L241L|NLRX1_ENST00000525863.1_Silent_p.L241L|NLRX1_ENST00000409265.4_Silent_p.L241L	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	241	NACHT.|Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TCTTTGTGCTCCATGGCTTAG	0.617000													20	72					1.40151e-16	1.52462e-16	1	1	0
DNAJC10	54431	broad.mit.edu	37	2	183616883	183616883	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr2:183616883G>A	ENST00000264065.7	+	16	1934	c.1519G>A	c.(1519-1521)Gat>Aat	p.D507N		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10		Thioredoxin 2.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGGTACACTAGATTGTACAGT	0.338000													8	57					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98240150	98240150	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr10:98240150C>G	ENST00000357947.3	-	2	467	c.242G>C	c.(241-243)aGa>aCa	p.R81T	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	81					cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			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)		GGTCCAGTCTCTGGCTTTGTC	0.507000													11	105					0	0	1	0	0
PDS5B	23047	broad.mit.edu	37	13	33273919	33273919	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr13:33273919G>A	ENST00000315596.10	+	16	1839	c.1653G>A	c.(1651-1653)caG>caA	p.Q551Q		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	551					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AATTCACACAGGTGTTAGAAG	0.333000													8	59					0	0	1	0	0
ARID4B	51742	broad.mit.edu	37	1	235345287	235345287	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:235345287C>G	ENST00000264183.3	-	20	3444	c.2947G>C	c.(2947-2949)Gaa>Caa	p.E983Q	ARID4B_ENST00000366603.2_Missense_Mutation_p.E983Q|ARID4B_ENST00000349213.3_Missense_Mutation_p.E897Q	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	983					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	p.E983*(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTTTCTAGTTCTACACTGGGT	0.502000													41	103					0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89815107	89815107	+	Missense_Mutation	SNP	G	G	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr16:89815107G>T	ENST00000389301.3	-	33	3338	c.3308C>A	c.(3307-3309)gCc>gAc	p.A1103D	FANCA_ENST00000568369.1_Missense_Mutation_p.A1103D	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1103					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CTCGCATCTGGCAGTGATGGG	0.597000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				5	41					2.0095e-06	2.10084e-06	1	1	0
CACNA2D1	781	broad.mit.edu	37	7	81596517	81596517	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr7:81596517C>T	ENST00000356860.3	-	31	2808	c.2470G>A	c.(2470-2472)Ggt>Agt	p.G824S	CACNA2D1_ENST00000535308.1_Missense_Mutation_p.G36S|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.G836S	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	836						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CAAACTGGACCAGCACACTGA	0.289000													8	21					0	0	1	0	0
ZNF221	7638	broad.mit.edu	37	19	44469162	44469162	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:44469162G>A	ENST00000251269.5	+	4	470	c.142G>A	c.(142-144)Gac>Aac	p.D48N	ZNF221_ENST00000592350.1_Missense_Mutation_p.D48N|ZNF221_ENST00000587682.1_Missense_Mutation_p.D48N	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	48	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				GGGGCTGCTGGACCCTGCCCA	0.493000													14	275					0	0	1	0	0
HYKK	123688	broad.mit.edu	37	15	78825858	78825858	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr15:78825858C>G	ENST00000388988.4	+	5	1081	c.968C>G	c.(967-969)tCt>tGt	p.S323C	HYKK_ENST00000408962.2_Intron|HYKK_ENST00000569878.1_Missense_Mutation_p.S323C|HYKK_ENST00000563233.1_Intron	NM_001013619.2	NP_001013641.2			hydroxylysine kinase																		GCTGCATACTCTTGCCAGCTA	0.443000													5	66					0	0	1	0	0
PDP1	54704	broad.mit.edu	37	8	94934496	94934496	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr8:94934496G>C	ENST00000396200.3	+	3	560	c.284G>C	c.(283-285)aGa>aCa	p.R95T	PDP1_ENST00000520728.1_Missense_Mutation_p.R70T|PDP1_ENST00000517764.1_Missense_Mutation_p.R70T|PDP1_ENST00000297598.4_Missense_Mutation_p.R70T	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	70					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						CAAGGAAGGAGATATGCTTCC	0.453000													13	105					0	0	1	0	0
HDLBP	3069	broad.mit.edu	37	2	242194815	242194815	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr2:242194815G>A	ENST00000391975.1	-	8	1281	c.1054C>T	c.(1054-1056)Cag>Tag	p.Q352*	HDLBP_ENST00000427183.2_Intron|HDLBP_ENST00000310931.4_Nonsense_Mutation_p.Q352*|HDLBP_ENST00000391976.2_Nonsense_Mutation_p.Q352*	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	352	KH 3.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GTCAACGCCTGACCTAACTTT	0.517000													9	38					0	0	1	0	0
PAQR6	79957	broad.mit.edu	37	1	156214522	156214522	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:156214522C>G	ENST00000335852.1	-	6	1087	c.472G>C	c.(472-474)Gag>Cag	p.E158Q	PAQR6_ENST00000292291.5_Intron|PAQR6_ENST00000368270.1_Intron|PAQR6_ENST00000356983.2_Missense_Mutation_p.E158Q|PAQR6_ENST00000540423.1_Intron|PAQR6_ENST00000492619.1_Intron	NM_024897.3	NP_079173.2	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	0						integral to membrane	receptor activity			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					GCCCCTGCCTCTTCCCGGGCC	0.587000													10	65					0	0	1	0	0
PRPS2	5634	broad.mit.edu	37	X	12809712	12809712	+	Silent	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chrX:12809712G>C	ENST00000380668.5	+	1	224	c.96G>C	c.(94-96)acG>acC	p.T32T	PRPS2_ENST00000398491.2_Silent_p.T32T|PRPS2_ENST00000489404.1_Silent_p.T32T	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	32					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						AGGTGGTCACGAAGAAGTTCA	0.726000													7	11					0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72431570	72431570	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr14:72431570C>G	ENST00000553530.1	+	2	269	c.62C>G	c.(61-63)cCa>cGa	p.P21R	RGS6_ENST00000406236.4_Missense_Mutation_p.P21R|RGS6_ENST00000355512.6_Missense_Mutation_p.P21R|RGS6_ENST00000407322.4_Missense_Mutation_p.P21R|RGS6_ENST00000402788.2_Missense_Mutation_p.P21R|RGS6_ENST00000404301.2_Missense_Mutation_p.P21R|RGS6_ENST00000556437.1_Missense_Mutation_p.P21R|RGS6_ENST00000555571.1_Missense_Mutation_p.P21R|RGS6_ENST00000553525.1_Missense_Mutation_p.P21R|RGS6_ENST00000343854.6_Missense_Mutation_p.P21R	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	21					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		GAGAGTTCTCCAAACATGATC	0.488000													13	69					0	0	1	0	0
WAPAL	23063	broad.mit.edu	37	10	88260183	88260183	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr10:88260183C>T	ENST00000298767.5	-	3	1289	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	273	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TTCAGATTTTCCAATCGATTT	0.373000													26	51					0	0	1	0	0
IL10RA	3587	broad.mit.edu	37	11	117859158	117859158	+	Silent	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr11:117859158C>G	ENST00000227752.3	+	2	249	c.129C>G	c.(127-129)ctC>ctG	p.L43L	IL10RA_ENST00000541785.1_Silent_p.L23L|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000545409.1_5'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	43						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		ACCACATCCTCCACTGGACAC	0.567000													44	68					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75898223	75898223	+	Silent	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr6:75898223G>C	ENST00000322507.8	-	8	1161	c.852C>G	c.(850-852)ctC>ctG	p.L284L	COL12A1_ENST00000483888.2_Silent_p.L284L|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Silent_p.L284L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	284	VWFA 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			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						CAATTTGTTTGAGTTCTTTTG	0.398000													16	70					0	0	1	0	0
DMRTA1	63951	broad.mit.edu	37	9	22451840	22451840	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr9:22451840C>T	ENST00000325870.2	+	2	1670	c.1445C>T	c.(1444-1446)tCc>tTc	p.S482F		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1						cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		AGAGATTCTTCCTACCTTTCC	0.423000													10	42					0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40661855	40661855	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr22:40661855C>G	ENST00000454349.2	+	5	1832	c.1621C>G	c.(1621-1623)Caa>Gaa	p.Q541E	TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.Q541E|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	541					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						ATGGGACAATCAAAAGGGCCA	0.517000													14	65					0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56531307	56531307	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr12:56531307G>C	ENST00000394048.5	+	18	2227	c.1963G>C	c.(1963-1965)Gag>Cag	p.E655Q	ESYT1_ENST00000541590.1_Missense_Mutation_p.E665Q|ESYT1_ENST00000267113.4_Missense_Mutation_p.E665Q	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	655	C2 3.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CCATGTATTAGAGGCCCAGGA	0.547000													59	207					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30703334	30703334	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr8:30703334C>G	ENST00000256246.2	-	1	3274	c.3200G>C	c.(3199-3201)aGa>aCa	p.R1067T		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1067										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)		GTCATATTTTCTTTTTGACGA	0.323000													15	29					0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665954	19665954	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr20:19665954G>T	ENST00000328041.6	+	12	1470	c.1273G>T	c.(1273-1275)Gag>Tag	p.E425*		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	425	Poly-Glu.					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						tgaggaggaagaggaggacga	0.522000													17	83					1.99824e-07	2.09815e-07	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228494156	228494156	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:228494156G>A	ENST00000570156.2	+	55	14688	c.14614G>A	c.(14614-14616)Gag>Aag	p.E4872K	OBSCN_ENST00000366707.4_Missense_Mutation_p.E1549K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E3915K|OBSCN_ENST00000366709.4_Missense_Mutation_p.E1034K|OBSCN_ENST00000284548.11_Missense_Mutation_p.E3915K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3915	IQ.				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)				TGAGCTGTCTGAGCCCACTGC	0.697000													24	36					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115229399	115229399	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:115229399C>G	ENST00000369538.3	-	3	482	c.435G>C	c.(433-435)caG>caC	p.Q145H	AMPD1_ENST00000353928.6_Missense_Mutation_p.Q116H|AMPD1_ENST00000520113.2_Missense_Mutation_p.Q149H	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	116					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TCTGCACTCTCTGAAAATCAG	0.468000													5	67					0	0	1	0	0
CD300LG	146894	broad.mit.edu	37	17	41926330	41926330	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr17:41926330G>A	ENST00000588884.1	+	2	512	c.448G>A	c.(448-450)Gca>Aca	p.A150T	CD300LG_ENST00000586233.1_Intron|CD300LG_ENST00000377203.4_Intron|CD300LG_ENST00000293396.8_Intron|CD300LG_ENST00000539718.1_Intron|CD300LG_ENST00000317310.4_Intron			Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	0						apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGGTGGTGGGGCATAATCCTG	0.562000													3	16					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38579410	38579410	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:38579410G>A	ENST00000222345.6	+	4	2093	c.1584G>A	c.(1582-1584)gtG>gtA	p.V528V		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	528					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAGTGGCTGTGAGCATTAAGC	0.572000													6	78					0	0	1	0	0
ALG6	29929	broad.mit.edu	37	1	63902619	63902619	+	Missense_Mutation	SNP	C	C	G	rs150298974	by1000genomes	TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:63902619C>G	ENST00000371108.4	+	15	1757	c.1452C>G	c.(1450-1452)ttC>ttG	p.F484L	ALG6_ENST00000263440.4_Missense_Mutation_p.F486L|ALG6_ENST00000494765.1_3'UTR	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	484					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ACTTCCTGTTCTTCTTGGTAT	0.368000													17	29					0	0	1	0	0
MIA-RAB4B	100529262	broad.mit.edu	37	19	41282877	41282877	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:41282877C>T	ENST00000600729.1	+	4	687	c.265C>T	c.(265-267)Cag>Tag	p.Q89*	MIA_ENST00000597784.1_Nonsense_Mutation_p.Q89*|MIA_ENST00000263369.3_Nonsense_Mutation_p.Q89*|MIA_ENST00000594436.1_Nonsense_Mutation_p.Q89*																							TCCCCAGGTTCAGGGAGATTA	0.522000													7	22					0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16528995	16528995	+	Missense_Mutation	SNP	T	T	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:16528995T>C	ENST00000270747.3	-	13	2118	c.1982A>G	c.(1981-1983)cAg>cGg	p.Q661R	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	661	PH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGATGCCCTGCAGCTTCAG	0.652000													39	45					0	0	1	0	0
PARP2	10038	broad.mit.edu	37	14	20825585	20825585	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr14:20825585G>A	ENST00000527915.1	+	15	1503	c.1498G>A	c.(1498-1500)Gag>Aag	p.E500K	PARP2_ENST00000250416.5_Missense_Mutation_p.E500K|PARP2_ENST00000429687.3_Missense_Mutation_p.E487K			Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	500	PARP catalytic.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		TGAACTACTAGAGGCCAATCC	0.463000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					8	53					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994669	140994669	+	Silent	SNP	T	T	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chrX:140994669T>C	ENST00000285879.4	+	4	1765	c.1479T>C	c.(1477-1479)agT>agC	p.S493S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	493							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTATTGAGTCTTTTCCAGA	0.502000										HNSCC(15;0.026)			27	169					0	0	1	0	0
RABL6	55684	broad.mit.edu	37	9	139733489	139733489	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr9:139733489C>G	ENST00000371675.3	+	11	1949	c.1064C>G	c.(1063-1065)tCg>tGg	p.S355W	RABL6_ENST00000311502.7_Missense_Mutation_p.S470W|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000432842.2_Missense_Mutation_p.S432W|RABL6_ENST00000371663.4_Missense_Mutation_p.S471W					RAB, member RAS oncogene family-like 6																		ATCACTCTTTCGAGTGAGGAG	0.627000													13	56					0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42740803	42740803	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr13:42740803C>T	ENST00000261491.5	+	9	1132	c.1111C>T	c.(1111-1113)Cat>Tat	p.H371Y	DGKH_ENST00000337343.4_Missense_Mutation_p.H371Y|DGKH_ENST00000538674.1_Missense_Mutation_p.H126Y|DGKH_ENST00000540693.1_Missense_Mutation_p.H371Y|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000379274.2_Missense_Mutation_p.H235Y|DGKH_ENST00000536612.1_Missense_Mutation_p.H235Y	NM_152910.4	NP_690874.2	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta		DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TGGAGGTCCTCATTTAGGGTA	0.358000													20	22					0	0	1	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46388386	46388386	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:46388386C>A	ENST00000302165.3	-	1	990	c.647G>T	c.(646-648)cGa>cTa	p.R216L		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		TGCCCGGCCTCGCATGGCCTC	0.627000													26	247					2.14196e-07	2.24417e-07	1	1	0
BPIFB6	128859	broad.mit.edu	37	20	31619480	31619480	+	Silent	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr20:31619480C>T	ENST00000349552.1	+	1	27	c.27C>T	c.(25-27)ctC>ctT	p.L9L		NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6	9						extracellular region	lipid binding										GCCTGGCACTCTGCAGCCTGC	0.662000													15	37					0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44933783	44933783	+	Missense_Mutation	SNP	G	G	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:44933783G>T	ENST00000291187.4	-	6	1477	c.1155C>A	c.(1153-1155)aaC>aaA	p.N385K	ZNF229_ENST00000588931.1_Missense_Mutation_p.N391K|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GGACAAGCAGGTTTGAACTTC	0.473000													36	132					1.36615e-20	1.49287e-20	1	1	0
KCNH2	3757	broad.mit.edu	37	7	150648640	150648640	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr7:150648640G>A	ENST00000392968.2	-	5	2673	c.1553C>T	c.(1552-1554)gCg>gTg	p.A518V	KCNH2_ENST00000430723.3_Missense_Mutation_p.A614V|KCNH2_ENST00000262186.5_Missense_Mutation_p.A614V|KCNH2_ENST00000330883.4_Missense_Mutation_p.A274V			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	614					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GAAGTAGAGCGCCGTCACATA	0.577000													15	122					0	0	1	0	0
PRDX4	10549	broad.mit.edu	37	X	23693153	23693153	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chrX:23693153G>C	ENST00000379341.4	+	3	531	c.406G>C	c.(406-408)Gaa>Caa	p.E136Q	PRDX4_ENST00000379331.3_Missense_Mutation_p.E136Q|PRDX4_ENST00000495599.1_3'UTR	NM_006406.1	NP_006397.1	Q13162	PRDX4_HUMAN	peroxiredoxin 4	136	Thioredoxin.				cell redox homeostasis|I-kappaB phosphorylation		thioredoxin peroxidase activity			lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						CGACAGACTTGAAGAATTCAG	0.343000													18	14					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16672834	16672834	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr5:16672834C>G	ENST00000513610.1	-	37	5727	c.5273G>C	c.(5272-5274)cGa>cCa	p.R1758P	MYO10_ENST00000427430.2_Missense_Mutation_p.R1115P|MYO10_ENST00000505695.1_Missense_Mutation_p.R1097P|MYO10_ENST00000515803.1_Missense_Mutation_p.R1097P|MYO10_ENST00000274203.9_Missense_Mutation_p.R1115P	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1758	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TACGACGGTTCGACTTTCAAT	0.483000													9	61					0	0	1	0	0
TRIM11	81559	broad.mit.edu	37	1	228594121	228594121	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:228594121C>T	ENST00000284551.6	-	1	420	c.142G>A	c.(142-144)Gag>Aag	p.E48K	TRIM11_ENST00000366699.3_Missense_Mutation_p.E48K	NM_145214.2	NP_660215.1	Q96F44	TRI11_HUMAN	tripartite motif containing 11	48					response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				TACGGGCCCTCGGGCTGGCCC	0.701000													8	16					0	0	1	0	0
POP4	10775	broad.mit.edu	37	19	30101462	30101462	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:30101462G>A	ENST00000585603.1	+	3	2509	c.207G>A	c.(205-207)aaG>aaA	p.K69K	POP4_ENST00000392279.3_Intron|POP4_ENST00000221770.3_Intron|POP4_ENST00000591824.1_3'UTR			O95707	RPP29_HUMAN	processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae)	69	Poly-Lys.				mRNA cleavage|rRNA processing|tRNA processing	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease P activity|RNA binding			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)			GCAAGGAGAAGAAGAAGAAAG	0.622000											OREG0025393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	56					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63930659	63930659	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr15:63930659C>A	ENST00000443617.2	-	63	12131	c.12044G>T	c.(12043-12045)aGa>aTa	p.R4015I		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4015					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CATTACATTTCTTCCAGCTTC	0.443000													13	61					0.00244969	0.00248051	1	1	0
SYTL4	94121	broad.mit.edu	37	X	99955915	99955915	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chrX:99955915G>A	ENST00000372981.1	-	5	703	c.517C>T	c.(517-519)Cag>Tag	p.Q173*	SYTL4_ENST00000454200.2_Nonsense_Mutation_p.Q173*|SYTL4_ENST00000455616.1_Nonsense_Mutation_p.Q173*|SYTL4_ENST00000372989.1_Nonsense_Mutation_p.Q173*|SYTL4_ENST00000276141.6_Nonsense_Mutation_p.Q173*|SYTL4_ENST00000263033.5_Nonsense_Mutation_p.Q173*			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	173					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGCCGCTCCTGAATGATCTTT	0.393000													14	85					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10916641	10916641	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:10916641C>T	ENST00000314646.5	+	13	1707	c.1543C>T	c.(1543-1545)Cag>Tag	p.Q515*	DNM2_ENST00000359692.6_Nonsense_Mutation_p.Q515*|DNM2_ENST00000389253.4_Nonsense_Mutation_p.Q515*|DNM2_ENST00000408974.4_Nonsense_Mutation_p.Q515*|DNM2_ENST00000585892.1_Nonsense_Mutation_p.Q515*|DNM2_ENST00000355667.6_Nonsense_Mutation_p.Q515*			P50570	DYN2_HUMAN	dynamin 2	515					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CATCCCCAATCAGGTAGCACA	0.602000			"""F, N, Splice, Mis, O"""		ETP ALL								14	98					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68191088	68191088	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr11:68191088G>A	ENST00000294304.7	+	14	3265	c.3159G>A	c.(3157-3159)ctG>ctA	p.L1053L		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1053	Beta-propeller 4.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCCACAGGCTGAGCGGGGAAG	0.647000													55	113					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9256469	9256469	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr18:9256469G>C	ENST00000262126.4	+	9	3444	c.3204G>C	c.(3202-3204)aaG>aaC	p.K1068N	ANKRD12_ENST00000400020.3_Missense_Mutation_p.K1045N|ANKRD12_ENST00000383440.2_Missense_Mutation_p.K1045N	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12							nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CTAAAGAAAAGAGGTTAGTGA	0.328000													25	144					0	0	1	0	0
IL22RA2	116379	broad.mit.edu	37	6	137477973	137477973	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr6:137477973C>T	ENST00000296980.2	-	4	516	c.216G>A	c.(214-216)atG>atA	p.M72I	IL22RA2_ENST00000349184.4_Intron|IL22RA2_ENST00000339602.3_Intron	NM_052962.2	NP_443194.1	Q969J5	I22R2_HUMAN	interleukin 22 receptor, alpha 2	72					regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	interleukin-22 receptor activity			endometrium(1)|large_intestine(1)|lung(3)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		gagagcttttcatgctgcatg	0.468000													17	60					0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46319799	46319799	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:46319799C>G	ENST00000245934.7	-	25	3539	c.3295G>C	c.(3295-3297)Gag>Cag	p.E1099Q	SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1099					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	p.E1099K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CCGCTGGCCTCCAAGATGGTC	0.657000													4	49					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36710361	36710361	+	Silent	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr22:36710361C>G	ENST00000216181.5	-	13	1613	c.1383G>C	c.(1381-1383)ctG>ctC	p.L461L		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	461	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CAAACGAGTTCAGCTGCAAGG	0.542000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				5	49					0	0	1	0	0
PHF2	5253	broad.mit.edu	37	9	96425260	96425260	+	Missense_Mutation	SNP	A	A	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr9:96425260A>C	ENST00000359246.4	+	13	2137	c.1770A>C	c.(1768-1770)gaA>gaC	p.E590D	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	590	Lys-rich.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		AGAGGCTGGAAATTCGAGAGC	0.498000													25	78					0	0	1	0	0
TMEM211	255349	broad.mit.edu	37	22	25331507	25331507	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr22:25331507G>C	ENST00000407886.1	-	4	435	c.183C>G	c.(181-183)ttC>ttG	p.F61L	TMEM211_ENST00000423535.1_Missense_Mutation_p.F132L|TMEM211_ENST00000382744.1_Missense_Mutation_p.F61L			Q6ICI0	TM211_HUMAN	transmembrane protein 211	132						integral to membrane				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CTTCCTTGATGAATGGGGAGG	0.537000													5	76					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51791498	51791498	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr15:51791498C>G	ENST00000251076.5	-	18	4210	c.3923G>C	c.(3922-3924)aGa>aCa	p.R1308T	DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Missense_Mutation_p.R1308T	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1308						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AACACTTTTTCTTGCCAGCAT	0.388000													28	63					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41159294	41159294	+	Silent	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr5:41159294C>T	ENST00000263413.3	-	12	2010	c.1746G>A	c.(1744-1746)aaG>aaA	p.K582K	C6_ENST00000337836.5_Silent_p.K582K	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	582	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTCTCGATCTCTTATAAGTAG	0.507000													7	93					0	0	1	0	0
ANAPC5	51433	broad.mit.edu	37	12	121773386	121773386	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr12:121773386C>G	ENST00000261819.3	-	7	1021	c.900G>C	c.(898-900)ttG>ttC	p.L300F	ANAPC5_ENST00000541887.1_Missense_Mutation_p.L300F|ANAPC5_ENST00000441917.2_Missense_Mutation_p.L201F|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000536366.1_Missense_Mutation_p.L179F|ANAPC5_ENST00000344395.4_Missense_Mutation_p.L201F	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	300					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGGCGTATCTCAAGCTCCGGC	0.483000													16	113					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38652999	38652999	+	Silent	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:38652999C>T	ENST00000222345.6	+	14	4277	c.3768C>T	c.(3766-3768)aaC>aaT	p.N1256N		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1256					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ATTCCCCCAACAGGCATTCCA	0.632000													12	29					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20123581	20123581	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr20:20123581G>A	ENST00000245957.5	+	9	1016	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.E314K|C20orf26_ENST00000451767.2_Missense_Mutation_p.E314K|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	314										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AGATACCATGGAAAACATCCA	0.542000													5	8					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140228251	140228251	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr5:140228251G>A	ENST00000378122.3	+	1	895	c.171G>A	c.(169-171)gcG>gcA	p.A57A	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.A57A|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGCTGGCGGAGCTGGTGC	0.632000													86	139					0	0	1	0	0
CYTH1	9267	broad.mit.edu	37	17	76677092	76677092	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr17:76677092C>G	ENST00000589297.1	-	12	1439	c.747G>C	c.(745-747)gaG>gaC	p.E249D	CYTH1_ENST00000586175.1_5'UTR|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000591455.1_Missense_Mutation_p.E307D|CYTH1_ENST00000361101.4_Missense_Mutation_p.E308D|CYTH1_ENST00000446868.3_Missense_Mutation_p.E308D|CYTH1_ENST00000585509.1_Missense_Mutation_p.E249D			Q15438	CYH1_HUMAN	cytohesin 1	308					regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						TACTCAGATTCTCTAAAGGGA	0.433000													9	162					0	0	1	0	0
EMP2	2013	broad.mit.edu	37	16	10631787	10631787	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr16:10631787G>A	ENST00000359543.3	-	4	523	c.314C>T	c.(313-315)tCa>tTa	p.S105L	EMP2_ENST00000536829.1_Missense_Mutation_p.S105L	NM_001424.4	NP_001415.1	P54851	EMP2_HUMAN	epithelial membrane protein 2	105					cell proliferation	integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						GTACTTACATGACATTAGCTG	0.532000													43	71					0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7047992	7047992	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr12:7047992G>A	ENST00000356654.4	+	7	3103	c.2866G>A	c.(2866-2868)Gag>Aag	p.E956K	ATN1_ENST00000396684.2_Missense_Mutation_p.E956K	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	956					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GAAGCCTAGTGAGCTGGAACC	0.652000													38	104					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61432635	61432635	+	Silent	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr17:61432635C>G	ENST00000424789.2	+	12	2248	c.2244C>G	c.(2242-2244)ctC>ctG	p.L748L	TANC2_ENST00000389520.4_Silent_p.L748L	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	748							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TGGAGAACCTCTCCATGTTCC	0.453000													6	24					0	0	1	0	0
OR10H5	284433	broad.mit.edu	37	19	15904881	15904881	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:15904881C>G	ENST00000308940.8	+	1	121	c.23C>G	c.(22-24)tCc>tGc	p.S8C		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						AACCACACCTCCGTGTCTGAA	0.582000													34	137					0	0	1	0	0
AKT2	208	broad.mit.edu	37	19	40742005	40742005	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:40742005C>T	ENST00000392038.2	-	11	1265	c.967G>A	c.(967-969)Gag>Aag	p.E323K	AKT2_ENST00000579047.1_Missense_Mutation_p.E261K|AKT2_ENST00000424901.1_Missense_Mutation_p.E323K|AKT2_ENST00000311278.6_Missense_Mutation_p.E280K	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	323	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			TCATTGTCCTCCAGCACCTGA	0.627000			A		"""ovarian, pancreatic """								23	74					0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	54048692	54048692	+	Splice_Site	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr10:54048692G>A	ENST00000373980.4	+	16	2251	c.1834G>A	c.(1834-1836)Gac>Aac	p.D612N	PRKG1_ENST00000401604.2_Splice_Site_p.D597N|PRKG1_ENST00000373975.2_Splice_Site_p.D315N|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373985.1_Splice_Site_p.D585N|PRKG1-AS1_ENST00000426785.2_RNA	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	597	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TATTTTTAGGGACAATCCATC	0.284000													23	68					0	0	1	0	0
RELB	5971	broad.mit.edu	37	19	45540711	45540711	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:45540711C>G	ENST00000221452.8	+	12	1553	c.1403C>G	c.(1402-1404)tCt>tGt	p.S468C	RELB_ENST00000540120.1_Missense_Mutation_p.S468C|RELB_ENST00000505236.1_Missense_Mutation_p.S465C	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	468						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GACTTCTTCTCTGGCACCGTG	0.622000													23	258					0	0	1	0	0
GLUD1	2746	broad.mit.edu	37	10	88854364	88854364	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr10:88854364C>A	ENST00000277865.4	-	1	259	c.163G>T	c.(163-165)Gag>Tag	p.E55*		NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	55					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	GCCACCGCCTCGCTGTAGTGG	0.731000													10	120					1.08611e-07	1.14539e-07	1	1	0
DOC2A	8448	broad.mit.edu	37	16	30018583	30018583	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr16:30018583C>T	ENST00000350119.4	-	6	755	c.565G>A	c.(565-567)Gag>Aag	p.E189K	DOC2A_ENST00000564944.1_Missense_Mutation_p.E189K|DOC2A_ENST00000564979.1_Missense_Mutation_p.E189K	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	189	C2 1.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						CCAATAAACTCATTGTGACTC	0.607000													20	81					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126237661	126237661	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr4:126237661C>T	ENST00000394329.3	+	1	108	c.95C>T	c.(94-96)tCa>tTa	p.S32L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	32					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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						TGGCTACTGTCATTGCTTCCG	0.612000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	146					0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47459101	47459101	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr3:47459101G>C	ENST00000265565.5	-	17	3075	c.2663C>G	c.(2662-2664)tCa>tGa	p.S888*	SCAP_ENST00000545718.1_Nonsense_Mutation_p.S495*|SCAP_ENST00000441517.2_Nonsense_Mutation_p.S632*	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	888	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AGTGGGCTGTGAGGACCGAGG	0.677000													9	19					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31355457	31355457	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr15:31355457C>T	ENST00000542188.1	-	7	1193	c.880G>A	c.(880-882)Gag>Aag	p.E294K	TRPM1_ENST00000256552.6_Missense_Mutation_p.E277K|TRPM1_ENST00000397795.2_Missense_Mutation_p.E255K	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	255					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGGCCCCCCTCCACCACGAGA	0.602000													28	82					0	0	1	0	0
POU3F2	5454	broad.mit.edu	37	6	99283767	99283767	+	Missense_Mutation	SNP	G	G	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr6:99283767G>T	ENST00000328345.5	+	1	1188	c.1018G>T	c.(1018-1020)Ggc>Tgc	p.G340C		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	340					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		CTCGTCCTCGGGCAGCCCCAC	0.582000													41	136					2.6416e-12	2.82903e-12	1	1	0
OR2G3	81469	broad.mit.edu	37	1	247768986	247768986	+	Silent	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:247768986C>T	ENST00000320002.2	+	1	131	c.99C>T	c.(97-99)ttC>ttT	p.F33F	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTGTCCTTTTCTTCTACCTCC	0.458000													13	138					0	0	1	0	0
DPH1	1801	broad.mit.edu	37	17	1939336	1939336	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr17:1939336G>A	ENST00000263083.6	+	4	411	c.366G>A	c.(364-366)gcG>gcA	p.A122A	DPH1_ENST00000570477.1_Silent_p.A42A|DPH1_ENST00000576891.2_3'UTR	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	122					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						ACTTCACAGCGAGGGCCCTGG	0.657000													30	35					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47700113	47700113	+	Silent	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr17:47700113C>T	ENST00000393331.3	-	4	530	c.60G>A	c.(58-60)gaG>gaA	p.E20E	SPOP_ENST00000347630.2_Silent_p.E20E|SPOP_ENST00000504102.1_Silent_p.E20E|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000503676.1_Silent_p.E20E|SPOP_ENST00000393328.2_Silent_p.E20E	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	20					mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AGCACCAACTCTCAGCTACGG	0.493000										Prostate(2;0.17)			9	131					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67857949	67857949	+	Missense_Mutation	SNP	A	A	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr18:67857949A>T	ENST00000255674.6	-	9	1300	c.1014T>A	c.(1012-1014)agT>agA	p.S338R	RTTN_ENST00000437017.1_Missense_Mutation_p.S338R|RTTN_ENST00000454359.1_Missense_Mutation_p.S338R	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	338							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CATGACTACTACTTCCACTGC	0.413000													16	38					0	0	1	0	0
LPCAT1	79888	broad.mit.edu	37	5	1489971	1489971	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr5:1489971G>C	ENST00000283415.3	-	4	628	c.496C>G	c.(496-498)Ctg>Gtg	p.L166V		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	166					phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		TACTGGATCAGAGCTGGAAGA	0.602000													42	212					0	0	1	0	0
KANK2	25959	broad.mit.edu	37	19	11304226	11304226	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:11304226G>A	ENST00000432929.2	-	4	890	c.530C>T	c.(529-531)cCg>cTg	p.P177L	KANK2_ENST00000589894.1_Missense_Mutation_p.P177L|KANK2_ENST00000355150.5_Missense_Mutation_p.P177L|KANK2_ENST00000589359.1_Missense_Mutation_p.P177L|KANK2_ENST00000586659.1_Missense_Mutation_p.P177L	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	177										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGGAGGCACCGGTGTGGACAG	0.716000													5	54					0	0	1	0	0
SLC30A4	7782	broad.mit.edu	37	15	45814289	45814289	+	Silent	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr15:45814289C>T	ENST00000261867.4	-	2	578	c.264G>A	c.(262-264)ctG>ctA	p.L88L	HMGN2P46_ENST00000409454.1_RNA|SLC30A4_ENST00000559667.1_5'UTR	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	88	Asp-rich (acidic).				regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		CCTTCAAACTCAGCTGACTGT	0.537000													32	80					0	0	1	0	0
C3orf17	25871	broad.mit.edu	37	3	112732196	112732196	+	Silent	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr3:112732196C>T	ENST00000314400.5	-	4	587	c.396G>A	c.(394-396)gtG>gtA	p.V132V	C3orf17_ENST00000383675.2_Intron|C3orf17_ENST00000393857.2_5'UTR	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	132						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						ACACCAACTCCACCACTGGCT	0.388000													9	68					0	0	1	0	0
GALR2	8811	broad.mit.edu	37	17	74071057	74071057	+	Silent	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr17:74071057C>T	ENST00000329003.3	+	1	183	c.93C>T	c.(91-93)ctC>ctT	p.L31L		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	31					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TGCCCCTGCTCTTCGCGCTCA	0.721000													7	20					0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124346180	124346180	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr8:124346180G>C	ENST00000287394.5	-	24	3523	c.3416C>G	c.(3415-3417)tCa>tGa	p.S1139*	ATAD2_ENST00000521903.1_Nonsense_Mutation_p.S457*	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CTCTGGGTCTGATCTTTTATC	0.403000													9	54					0	0	1	0	0
COG5	10466	broad.mit.edu	37	7	107167758	107167758	+	Silent	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr7:107167758G>C	ENST00000393603.2	-	6	826	c.555C>G	c.(553-555)ctC>ctG	p.L185L	COG5_ENST00000475638.2_5'UTR|COG5_ENST00000347053.3_Silent_p.L185L|COG5_ENST00000297135.3_Silent_p.L185L	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	185					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						GTCTCTTACTGAGATTCAAGA	0.353000													6	20					0	0	1	0	0
SCAF8	22828	broad.mit.edu	37	6	155116167	155116167	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr6:155116167C>A	ENST00000367178.3	+	6	1076	c.500C>A	c.(499-501)cCg>cAg	p.P167Q	SCAF8_ENST00000417268.1_Missense_Mutation_p.P167Q|SCAF8_ENST00000367186.4_Missense_Mutation_p.P233Q	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	167					mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CCTGTTACTCCGGCCAATGTG	0.423000													27	89					2.08457e-15	2.2575e-15	1	1	0
BTAF1	9044	broad.mit.edu	37	10	93748959	93748959	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr10:93748959C>G	ENST00000265990.6	+	20	2784	c.2476C>G	c.(2476-2478)Caa>Gaa	p.Q826E	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	826					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TTTAAATCCTCAAGTGTTACA	0.348000													15	33					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102074286	102074286	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr12:102074286G>A	ENST00000549145.1	+	29	3530	c.3430G>A	c.(3430-3432)Gaa>Aaa	p.E1144K	MYBPC1_ENST00000536007.1_Missense_Mutation_p.E1094K|MYBPC1_ENST00000547509.1_Missense_Mutation_p.E1099K|MYBPC1_ENST00000550270.1_Missense_Mutation_p.E1131K|MYBPC1_ENST00000441232.1_Missense_Mutation_p.E1131K|MYBPC1_ENST00000545503.2_Missense_Mutation_p.E1113K|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E1131K|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000541119.1_Missense_Mutation_p.E1101K|MYBPC1_ENST00000551300.1_Missense_Mutation_p.E1014K|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E1138K|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E1131K|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E1138K|MYBPC1_ENST00000547405.1_Missense_Mutation_p.E1087K|MYBPC1_ENST00000553190.1_Missense_Mutation_p.E1113K|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E1100K			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	1131					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AGTGGAGATTGAATGCAAACT	0.418000													21	21					0	0	1	0	0
CLCN3	1182	broad.mit.edu	37	4	170611701	170611701	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr4:170611701G>C	ENST00000513761.1	+	6	1186	c.627G>C	c.(625-627)atG>atC	p.M209I	CLCN3_ENST00000347613.4_Missense_Mutation_p.M209I|CLCN3_ENST00000360642.3_Missense_Mutation_p.M209I|CLCN3_ENST00000504131.2_Missense_Mutation_p.M192I	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	209				M -> T (in Ref. 5; BX647119).	endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		CTTATATCATGAACTACATAA	0.383000													6	26					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179600588	179600588	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr2:179600588C>G	ENST00000589042.1	-	50	14809	c.14585G>C	c.(14584-14586)aGa>aCa	p.R4862T	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R3618T|TTN_ENST00000591111.1_Missense_Mutation_p.R4545T|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4545	Ig-like 29.						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)			ATAAACTCCTCTATCTTGAAT	0.403000													7	36					0	0	1	0	0
RUVBL1	8607	broad.mit.edu	37	3	127872439	127872439	+	Translation_Start_Site	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr3:127872439C>T	ENST00000464873.1	-	0	318				EEFSEC_ENST00000254730.6_Missense_Mutation_p.T30I|EEFSEC_ENST00000483457.1_Missense_Mutation_p.T30I			Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1						cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		CTAAGCACCACAGCCTCCACC	0.726000													5	19					0	0	1	0	0
PDZD4	57595	broad.mit.edu	37	X	153073868	153073868	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chrX:153073868G>A	ENST00000164640.4	-	2	434	c.243C>T	c.(241-243)atC>atT	p.I81I	PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000393758.2_5'UTR|PDZD4_ENST00000544474.1_Intron	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	81						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGCGCCATGATATGCTCGA	0.677000													9	56					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110885639	110885639	+	Silent	SNP	C	C	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr4:110885639C>A	ENST00000265171.5	+	10	1966	c.1521C>A	c.(1519-1521)ctC>ctA	p.L507L	EGF_ENST00000503392.1_Silent_p.L507L|EGF_ENST00000509793.1_Silent_p.L465L	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	507					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GAACTCTGCTCAGCCAGCAGA	0.408000													18	144					7.07596e-05	7.27168e-05	1	1	0
ZDHHC9	51114	broad.mit.edu	37	X	128947698	128947698	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chrX:128947698G>C	ENST00000357166.6	-	7	1020	c.629C>G	c.(628-630)tCt>tGt	p.S210C	ZDHHC9_ENST00000371064.3_Missense_Mutation_p.S210C	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	210						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						AATTTTCAAAGATTCTGTGAA	0.433000													23	18					0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109782094	109782094	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr4:109782094G>A	ENST00000399132.1	-	23	1761	c.1231C>T	c.(1231-1233)Cag>Tag	p.Q411*	COL25A1_ENST00000399127.1_Nonsense_Mutation_p.Q392*|COL25A1_ENST00000399126.1_Nonsense_Mutation_p.Q411*	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	411	Collagen-like 5.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTTGGTCCCTGAGCTCCAGAG	0.443000													11	50					0	0	1	0	0
BBS4	585	broad.mit.edu	37	15	73020291	73020291	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr15:73020291G>C	ENST00000268057.4	+	9	639	c.598G>C	c.(598-600)Gaa>Caa	p.E200Q	BBS4_ENST00000542334.1_Missense_Mutation_p.E28Q|BBS4_ENST00000395205.2_Missense_Mutation_p.E208Q|BBS4_ENST00000539603.1_Missense_Mutation_p.E188Q	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	200	Interaction with PCM1.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GTTCTCACCAGAAAATACAGA	0.393000									Bardet-Biedl syndrome				3	19					0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194180210	194180210	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr3:194180210C>T	ENST00000439040.1	-	6	1260	c.469G>A	c.(469-471)Gat>Aat	p.D157N	ATP13A3_ENST00000256031.4_Missense_Mutation_p.D157N			Q9H7F0	AT133_HUMAN	ATPase type 13A3	157					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TTTAAGAAATCAAAATTGTGA	0.294000													4	9					0	0	1	0	0
RPL3	6122	broad.mit.edu	37	22	39713471	39713471	+	Silent	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr22:39713471C>T	ENST00000216146.4	-	3	533	c.360G>A	c.(358-360)aaG>aaA	p.K120K	RPL3_ENST00000401609.1_Silent_p.K68K|RPL3_ENST00000465618.1_5'UTR	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	120					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)					CTTACCAATTCTTATAGAAAC	0.552000											OREG0026575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	75					0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170244723	170244723	+	Translation_Start_Site	SNP	C	C	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr3:170244723C>A	ENST00000231706.5	-	2	318	c.3G>T	c.(1-3)atG>atT	p.M1I	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14							integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AGAAGCCACTCATCTTGAGCG	0.567000													3	21					1	1	1	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144854539	144854539	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:144854539C>T	ENST00000369359.4	-	45	7377	c.7339G>A	c.(7339-7341)Gaa>Aaa	p.E2447K	PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E2311K|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E2396K|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E2311K|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E2205K|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2311					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATGAACTGTTCCATGCTCTCC	0.512000			T	PDGFRB	MPD								24	167					0	0	1	0	0
INTS4P1	285905	broad.mit.edu	37	7	64643356	64643356	+	RNA	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr7:64643356C>T	ENST00000587624.1	+	0	763																											TAAAAGGATTCATCCAGAGAT	0.408000													5	18					0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178769850	178769850	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr2:178769850G>A	ENST00000286063.6	-	3	1453	c.1136C>T	c.(1135-1137)tCa>tTa	p.S379L	PDE11A_ENST00000449286.2_Missense_Mutation_p.S21L|PDE11A_ENST00000358450.4_Missense_Mutation_p.S129L|PDE11A_ENST00000409504.1_Missense_Mutation_p.S21L|PDE11A_ENST00000497003.1_5'UTR	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A						platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TTCTTTCCTTGAGGCAGCAAA	0.358000									Primary Pigmented Nodular Adrenocortical Disease, Familial				6	21					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153697780	153697780	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chrX:153697780G>C	ENST00000369682.3	+	27	4828	c.4653G>C	c.(4651-4653)aaG>aaC	p.K1551N	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1551					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCACCACCAAGATCGAGTGTG	0.627000													49	45					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64422316	64422316	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr6:64422316C>T	ENST00000262043.3	+	16	5172	c.4832C>T	c.(4831-4833)tCa>tTa	p.S1611L	PHF3_ENST00000393387.1_Missense_Mutation_p.S1611L			Q92576	PHF3_HUMAN	PHD finger protein 3	1611					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AACCAGACTTCAAATAGTTCT	0.373000													7	30					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31025091	31025091	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr20:31025091G>A	ENST00000375687.4	+	13	5000	c.4576G>A	c.(4576-4578)Gac>Aac	p.D1526N	ASXL1_ENST00000306058.5_Missense_Mutation_p.D1521N	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1526					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTGTCACGATGACTGTATTGG	0.468000			"""F, N, Mis"""		"""MDS, CMML"""								8	135					0	0	1	0	0
NRDE2	55051	broad.mit.edu	37	14	90770544	90770544	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr14:90770544G>A	ENST00000354366.3	-	5	972	c.740C>T	c.(739-741)tCa>tTa	p.S247L	NRDE2_ENST00000357904.3_Missense_Mutation_p.S16L	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		GGGCTCAGATGAGGGAGGTTC	0.448000													31	106					0	0	1	0	0
DEPDC1B	55789	broad.mit.edu	37	5	59982971	59982971	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr5:59982971G>A	ENST00000265036.5	-	2	199	c.132C>T	c.(130-132)ttC>ttT	p.F44F	DEPDC1B_ENST00000545085.1_Silent_p.F17F|DEPDC1B_ENST00000453022.2_Silent_p.F44F	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	44	DEP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				CGGCCGCTGTGAAACAATGCT	0.507000													18	58					0	0	1	0	0
CERCAM	51148	broad.mit.edu	37	9	131186771	131186771	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr9:131186771C>T	ENST00000372842.1	+	6	3554	c.410C>T	c.(409-411)tCc>tTc	p.S137F	CERCAM_ENST00000372838.4_Missense_Mutation_p.S215F			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	215					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						ATGGTCCACTCCACCTTCCTT	0.612000													26	112					0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30906679	30906679	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr12:30906679G>A	ENST00000251071.5	-	1	769	c.19C>T	c.(19-21)Caa>Taa	p.Q7*	CAPRIN2_ENST00000417045.1_Nonsense_Mutation_p.Q7*|CAPRIN2_ENST00000395805.2_Nonsense_Mutation_p.Q7*|CAPRIN2_ENST00000298892.5_Nonsense_Mutation_p.Q7*|CAPRIN2_ENST00000308433.5_5'UTR	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	7					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AATGATGCTTGAGATACTTGT	0.438000											OREG0021723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	110					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33482535	33482535	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr2:33482535G>A	ENST00000404816.2	+	12	2705	c.2352G>A	c.(2350-2352)ctG>ctA	p.L784L	LTBP1_ENST00000404525.1_Silent_p.L405L|LTBP1_ENST00000402934.1_Silent_p.L405L|LTBP1_ENST00000390003.4_Silent_p.L458L|LTBP1_ENST00000418533.2_Silent_p.L458L|LTBP1_ENST00000407925.1_Silent_p.L458L|LTBP1_ENST00000354476.3_Silent_p.L784L			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	784					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGGAGGCCCTGACCTTCTCCC	0.522000													11	53					0	0	1	0	0
RBM7	10179	broad.mit.edu	37	11	114278282	114278282	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr11:114278282C>T	ENST00000540163.1	+	5	1196	c.554C>T	c.(553-555)tCa>tTa	p.S185L	RBM7_ENST00000541475.1_3'UTR|RP11-212D19.4_ENST00000544347.1_Intron|RBM7_ENST00000545678.1_Missense_Mutation_p.S65L|RBM7_ENST00000544582.1_Intron|RBM7_ENST00000375490.5_Missense_Mutation_p.S186L			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	185					meiosis		nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		AATCAGTCTTCAAGCTCCCAG	0.428000													44	97					0	0	1	0	0
CEACAM19	56971	broad.mit.edu	37	19	45179640	45179640	+	Silent	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:45179640C>T	ENST00000358777.4	+	3	1002	c.522C>T	c.(520-522)atC>atT	p.I174I	CEACAM19_ENST00000403660.3_Silent_p.I174I|CTB-171A8.1_ENST00000590796.1_RNA|CEACAM19_ENST00000480278.1_3'UTR	NM_001127893.1|NM_020219.3	NP_001121365.1|NP_064604.2	Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	174						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				CCCTTCTCATCAGCTGCATTG	0.587000													31	106					0	0	1	0	0
XYLT2	64132	broad.mit.edu	37	17	48435844	48435844	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr17:48435844G>A	ENST00000017003.2	+	10	2267	c.2218G>A	c.(2218-2220)Gag>Aag	p.E740K	XYLT2_ENST00000507602.1_Intron	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	740					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					ACCGCTGGGTGAGACCCGCTT	0.587000													8	56					0	0	1	0	0
JPH3	57338	broad.mit.edu	37	16	87677961	87677961	+	Silent	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr16:87677961G>C	ENST00000284262.2	+	2	722	c.480G>C	c.(478-480)ctG>ctC	p.L160L		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	160					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GCTCACCCCTGAGGACGTCCA	0.726000													27	117					0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3599703	3599703	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr5:3599703C>A	ENST00000302006.3	+	2	693	c.641C>A	c.(640-642)cCg>cAg	p.P214Q	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	214						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GAGGGCGACCCGGAGAAGGCC	0.627000													15	105					1.15088e-07	1.21105e-07	1	1	0
TGIF2LX	90316	broad.mit.edu	37	X	89177430	89177430	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chrX:89177430C>T	ENST00000561129.2	+	1	476	c.346C>T	c.(346-348)Cgt>Tgt	p.R116C	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.R116C			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	116						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						GCTTCAACAGCGTAGAAACGA	0.527000													13	65					0	0	1	0	0
HSPA6	3310	broad.mit.edu	37	1	161494743	161494743	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:161494743G>T	ENST00000309758.4	+	1	708	c.295G>T	c.(295-297)Gag>Tag	p.E99*	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	99					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GGTGGTGAGCGAGGGCGGCAA	0.627000													8	69					2.17888e-05	2.25353e-05	1	1	0
CALCRL	10203	broad.mit.edu	37	2	188243735	188243735	+	Silent	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr2:188243735C>T	ENST00000409998.1	-	9	1213	c.432G>A	c.(430-432)ctG>ctA	p.L144L	CALCRL_ENST00000392370.3_Silent_p.L144L|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Silent_p.L144L			Q16602	CALRL_HUMAN	calcitonin receptor-like	144				L -> Q (in Ref. 4; BAF84319).		integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			CAATTATGGTCAGGTAAAACA	0.289000													18	85					0	0	1	0	0
BTBD2	55643	broad.mit.edu	37	19	1986490	1986490	+	Silent	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:1986490G>C	ENST00000255608.4	-	9	1591	c.1575C>G	c.(1573-1575)acC>acG	p.T525T		NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	525						cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCAGCCTAGGTGTAGAAGA	0.677000													17	84					0	0	1	0	0
RRP1	8568	broad.mit.edu	37	21	45222205	45222205	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr21:45222205G>C	ENST00000497547.1	+	12	1177	c.1060G>C	c.(1060-1062)Gaa>Caa	p.E354Q	RRP1_ENST00000471909.1_3'UTR	NM_003683.5	NP_003674.1	P56182	RRP1_HUMAN	ribosomal RNA processing 1	354					rRNA processing	nucleolus|preribosome, small subunit precursor				central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		GCGCCTGCTTGAAGGGAGGCG	0.592000													16	73					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702213	27702213	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr10:27702213G>A	ENST00000438700.3	-	1	1084	c.967C>T	c.(967-969)Cgg>Tgg	p.R323W		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	323					spermatid development	integral to membrane	hedgehog receptor activity	p.R323W(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TACAGCAGCCGCATGGCTTTG	0.562000													50	217					0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53669003	53669003	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:53669003G>A	ENST00000600412.1	-	2	660	c.545C>T	c.(544-546)tCa>tTa	p.S182L	ZNF665_ENST00000396424.3_Missense_Mutation_p.S247L			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TGCAAGGTTTGAAGGTTGACT	0.393000													32	55					0	0	1	0	0
DDX19B	11269	broad.mit.edu	37	16	70363368	70363368	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr16:70363368C>G	ENST00000288071.6	+	8	1026	c.781C>G	c.(781-783)Cag>Gag	p.Q261E	RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000393657.2_Missense_Mutation_p.Q152E|DDX19B_ENST00000568625.1_Missense_Mutation_p.Q152E|DDX19B_ENST00000355992.3_Missense_Mutation_p.Q230E|DDX19B_ENST00000563206.1_Missense_Mutation_p.Q266E|RP11-529K1.3_ENST00000567706.1_Intron|DDX19B_ENST00000563392.1_Missense_Mutation_p.Q152E|DDX19B_ENST00000451014.3_Missense_Mutation_p.Q235E	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	261	Helicase ATP-binding.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				CATCCGCATCCAGAGGTAGGG	0.527000													26	54					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136350	55136350	+	Missense_Mutation	SNP	A	A	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr11:55136350A>T	ENST00000314706.3	+	1	991	c.991A>T	c.(991-993)Agt>Tgt	p.S331C		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	331					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GAAACTTTGGAGTAAAAAAGT	0.378000													38	78					0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8393718	8393718	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr17:8393718C>G	ENST00000360416.3	-	35	4962	c.4824G>C	c.(4822-4824)gaG>gaC	p.E1608D	MYH10_ENST00000269243.4_Missense_Mutation_p.E1577D|MYH10_ENST00000379980.4_Missense_Mutation_p.E1593D|MYH10_ENST00000396239.1_Missense_Mutation_p.E1598D	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1577					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GCAGGTCTCTCTCGAACTGCG	0.582000													46	80					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46001008	46001008	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr3:46001008G>C	ENST00000296137.2	-	12	3669	c.3464C>G	c.(3463-3465)tCa>tGa	p.S1155*	FYCO1_ENST00000535325.1_Nonsense_Mutation_p.S1155*	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1155					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CAGGGCATCTGACTTCTGCCA	0.498000													10	34					0	0	1	0	0
ZDHHC9	51114	broad.mit.edu	37	X	128948701	128948701	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chrX:128948701G>A	ENST00000357166.6	-	6	949	c.558C>T	c.(556-558)ctC>ctT	p.L186L	ZDHHC9_ENST00000371064.3_Silent_p.L186L	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	186						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						AAAGGATGAAGAGGTAGAAGT	0.512000													96	40					0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23177557	23177557	+	Silent	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr8:23177557C>T	ENST00000389131.3	-	8	1680	c.1311G>A	c.(1309-1311)ctG>ctA	p.L437L		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	437	SRCR 4.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GGCCGCCGTTCAGGCGCAGCT	0.637000													12	59					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228890136	228890136	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr2:228890136G>A	ENST00000392056.3	-	5	461	c.415C>T	c.(415-417)Ctc>Ttc	p.L139F	SPHKAP_ENST00000344657.5_Missense_Mutation_p.L139F	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	139						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTGCCTGGAGATTTCCAGAG	0.383000													9	51					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87726518	87726518	+	Silent	SNP	T	T	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr4:87726518T>G	ENST00000436978.1	+	44	7236	c.6756T>G	c.(6754-6756)ctT>ctG	p.L2252L	PTPN13_ENST00000427191.2_Silent_p.L2228L|PTPN13_ENST00000511467.1_Silent_p.L2252L|PTPN13_ENST00000411767.2_Silent_p.L2247L|PTPN13_ENST00000316707.6_Silent_p.L2056L	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2247	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AAAATATACTTCCCTGTAAGT	0.308000													3	8					0	0	1	0	0
IRF2BP2	359948	broad.mit.edu	37	1	234742887	234742887	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:234742887G>C	ENST00000366609.3	-	2	1790	c.1760C>G	c.(1759-1761)tCg>tGg	p.S587W	IRF2BP2_ENST00000366610.3_Missense_Mutation_p.S571W|RP4-781K5.2_ENST00000436039.1_RNA	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	587					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			GAAAAGTCACGAGTCTCTCTC	0.398000													20	134					0	0	1	0	0
SLC30A4	7782	broad.mit.edu	37	15	45814238	45814238	+	Silent	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr15:45814238C>T	ENST00000261867.4	-	2	629	c.315G>A	c.(313-315)ctG>ctA	p.L105L	HMGN2P46_ENST00000409454.1_RNA|SLC30A4_ENST00000559667.1_5'UTR	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	105					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		TTCTCTGCTTCAGTATCTCTC	0.458000													25	66					0	0	1	0	0
IKZF4	64375	broad.mit.edu	37	12	56428453	56428453	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr12:56428453G>A	ENST00000262032.5	+	12	1463	c.1096G>A	c.(1096-1098)Gag>Aag	p.E366K	IKZF4_ENST00000431367.2_Missense_Mutation_p.E264K|IKZF4_ENST00000547791.1_Missense_Mutation_p.E321K|IKZF4_ENST00000547167.1_Missense_Mutation_p.E366K|RP11-603J24.4_ENST00000551846.1_RNA			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	366					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCACAGCCTAGAGCCTGGCTT	0.562000													45	71					0	0	1	0	0
SMTN	6525	broad.mit.edu	37	22	31493042	31493042	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr22:31493042G>A	ENST00000333137.7	+	15	2303	c.2085G>A	c.(2083-2085)tcG>tcA	p.S695S	SMTN_ENST00000347557.2_Silent_p.S695S|SMTN_ENST00000404574.1_Intron|SMTN_ENST00000358743.1_Silent_p.S695S	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	695					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						TGAGGCGCTCGGAGAGTAAGG	0.637000													6	41					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186331458	186331458	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:186331458G>C	ENST00000367478.4	-	7	1047	c.751C>G	c.(751-753)Caa>Gaa	p.Q251E	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ACATGCTTTTGAAGATGTTCA	0.318000			T	NTRK1	papillary thyroid								8	37					0	0	1	0	0
SNX32	254122	broad.mit.edu	37	11	65620773	65620773	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr11:65620773G>A	ENST00000308342.6	+	13	1604	c.1179G>A	c.(1177-1179)cgG>cgA	p.R393R		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	393					cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		TGATTCTCCGGAACACCCTTG	0.572000													52	147					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31302286	31302286	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr5:31302286G>A	ENST00000265071.2	+	6	1145	c.880G>A	c.(880-882)Gac>Aac	p.D294N	CDH6_ENST00000514738.1_Missense_Mutation_p.D239N	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	294	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAAAGCCAGCGACGCTGATGT	0.463000													9	88					0	0	1	0	0
FERMT2	10979	broad.mit.edu	37	14	53347817	53347817	+	Silent	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr14:53347817C>G	ENST00000395631.2	-	6	1008	c.792G>C	c.(790-792)gtG>gtC	p.V264V	FERMT2_ENST00000341590.3_Silent_p.V264V|FERMT2_ENST00000553373.1_Silent_p.V264V|FERMT2_ENST00000343279.4_Silent_p.V264V|FERMT2_ENST00000399304.3_Silent_p.V264V			Q96AC1	FERM2_HUMAN	fermitin family member 2	264	FERM.				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					CATTTTCCTTCACATCTTGTT	0.383000													4	48					0	0	1	0	0
GNAT1	2779	broad.mit.edu	37	3	50232062	50232062	+	Silent	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr3:50232062C>T	ENST00000232461.3	+	7	951	c.837C>T	c.(835-837)ctC>ctT	p.L279L	GNAT1_ENST00000433068.1_Silent_p.L279L	NM_144499.2	NP_653082.1	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	279					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AGGCGCACCTCAGCATCTGTT	0.622000											OREG0015580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	107					0	0	1	0	0
IGSF11	152404	broad.mit.edu	37	3	118624485	118624485	+	Missense_Mutation	SNP	T	T	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr3:118624485T>C	ENST00000354673.2	-	7	1038	c.658A>G	c.(658-660)Att>Gtt	p.I220V	IGSF11_ENST00000441144.2_Intron|IGSF11_ENST00000489689.1_Intron|IGSF11_ENST00000393775.2_Missense_Mutation_p.I221V|IGSF11_ENST00000491903.1_Missense_Mutation_p.I221V|IGSF11_ENST00000425327.2_Missense_Mutation_p.I220V	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	221	Ig-like C2-type.				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTGGTTCCAATAGCATTAGAA	0.448000													41	70					0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6532523	6532523	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr11:6532523C>A	ENST00000254579.6	+	7	1820	c.1256C>A	c.(1255-1257)tCt>tAt	p.S419Y	DNHD1_ENST00000354685.3_Missense_Mutation_p.S419Y|DNHD1_ENST00000527990.2_Missense_Mutation_p.S419Y	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	419					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GAGCTACACTCTGTGTCCTGG	0.547000													35	66					1.06647e-15	1.15754e-15	1	1	0
UNC45B	146862	broad.mit.edu	37	17	33476016	33476016	+	Missense_Mutation	SNP	G	G	A	rs140539145		TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr17:33476016G>A	ENST00000268876.5	+	3	290	c.193G>A	c.(193-195)Gat>Aat	p.D65N	UNC45B_ENST00000394570.2_Missense_Mutation_p.D65N|UNC45B_ENST00000433649.1_Missense_Mutation_p.D65N|UNC45B_ENST00000591048.1_Missense_Mutation_p.D65N|UNC45B_ENST00000378449.1_Missense_Mutation_p.D65N	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	65					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GGCAGCTTCAGATGCCTCCAG	0.552000													9	138					0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6865527	6865527	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr4:6865527C>T	ENST00000307659.5	+	7	3873	c.3418C>T	c.(3418-3420)Caa>Taa	p.Q1140*	KIAA0232_ENST00000425103.1_Nonsense_Mutation_p.Q1140*	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1140							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CATTCCTTCTCAAGTTGATAT	0.433000													12	49					0	0	1	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182909584	182909584	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:182909584C>T	ENST00000367547.3	-	3	886	c.650G>A	c.(649-651)aGa>aAa	p.R217K	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.R98K	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	289										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						AACCAAATCTCTTGGAATATT	0.393000													9	57					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34261481	34261481	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr18:34261481G>A	ENST00000257209.4	+	12	1515	c.1393G>A	c.(1393-1395)Gag>Aag	p.E465K	FHOD3_ENST00000445677.1_Missense_Mutation_p.E427K|FHOD3_ENST00000590592.1_Missense_Mutation_p.E640K|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000359247.4_Missense_Mutation_p.E465K	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	465					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GCGGCGGCAGGAGAGAGAAGA	0.428000													10	66					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87196188	87196188	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr7:87196188C>G	ENST00000265724.3	-	7	860	c.443G>C	c.(442-444)aGa>aCa	p.R148T	ABCB1_ENST00000543898.1_Intron	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	148	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.R148T(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AAACTGTTTTCTAATTTTGTG	0.428000													20	36					0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	48040148	48040148	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr3:48040148G>C	ENST00000426837.2	-	2	290	c.203C>G	c.(202-204)tCa>tGa	p.S68*	MAP4_ENST00000383737.4_Nonsense_Mutation_p.S68*|MAP4_ENST00000434267.1_Nonsense_Mutation_p.S68*|MAP4_ENST00000395734.3_Nonsense_Mutation_p.S68*|MAP4_ENST00000439356.1_Nonsense_Mutation_p.S68*|MAP4_ENST00000360240.6_Nonsense_Mutation_p.S68*			P27816	MAP4_HUMAN	microtubule-associated protein 4	68					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		GCTAGTTTCTGAGCACGGTTT	0.398000													16	154					0	0	1	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54110119	54110119	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr12:54110119C>A	ENST00000548263.1	-	8	978	c.930G>T	c.(928-930)caG>caT	p.Q310H	CALCOCO1_ENST00000430117.2_Intron|CALCOCO1_ENST00000550804.1_Missense_Mutation_p.Q310H|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.Q310H			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	310					steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CCTGAGCACTCTGCTCCTCTT	0.582000													29	61					2.12542e-12	2.28128e-12	1	1	0
RHOU	58480	broad.mit.edu	37	1	228879347	228879347	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:228879347G>C	ENST00000366691.3	+	3	1303	c.637G>C	c.(637-639)Gag>Cag	p.E213Q		NM_021205.5	NP_067028.1	Q7L0Q8	RHOU_HUMAN	ras homolog family member U	213					regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				AAACCTCAAAGAGGTCTTTGA	0.483000													14	164					0	0	1	0	0
MLH1	4292	broad.mit.edu	37	3	37056028	37056028	+	Silent	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr3:37056028C>T	ENST00000231790.2	+	9	999	c.783C>T	c.(781-783)ttC>ttT	p.F261F	MLH1_ENST00000458205.2_Silent_p.F20F|MLH1_ENST00000435176.1_Silent_p.F163F|MLH1_ENST00000455445.2_Silent_p.F20F|MLH1_ENST00000539477.1_Silent_p.F20F|MLH1_ENST00000536378.1_Silent_p.F20F	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	261			Missing (in HNPCC2).		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TCTTACTCTTCATCAACCGTA	0.383000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				11	18					0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53572838	53572838	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:53572838C>G	ENST00000601421.1	-	3	1717	c.841G>C	c.(841-843)Gag>Cag	p.E281Q	ZNF160_ENST00000429604.1_Missense_Mutation_p.E317Q|ZNF160_ENST00000599056.1_Missense_Mutation_p.E317Q|ZNF160_ENST00000418871.1_Missense_Mutation_p.E317Q			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	317					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TTGCCACACTCATGACATTTG	0.418000													17	64					0	0	1	0	0
PACSIN2	11252	broad.mit.edu	37	22	43286959	43286959	+	Silent	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr22:43286959C>T	ENST00000263246.3	-	4	648	c.447G>A	c.(445-447)ctG>ctA	p.L149L	PACSIN2_ENST00000337959.4_Silent_p.L149L|PACSIN2_ENST00000403744.3_Silent_p.L149L|PACSIN2_ENST00000407585.1_Silent_p.L149L|PACSIN2_ENST00000402229.1_Silent_p.L149L	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	149					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				GTACCTCTTTCAGCTTCTTGG	0.592000													6	30					0	0	1	0	0
WSB2	55884	broad.mit.edu	37	12	118481089	118481089	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr12:118481089C>G	ENST00000315436.3	-	3	417	c.276G>C	c.(274-276)caG>caC	p.Q92H	WSB2_ENST00000544233.1_Intron|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000542304.1_5'UTR|WSB2_ENST00000535496.1_Missense_Mutation_p.Q94H|WSB2_ENST00000441406.2_Missense_Mutation_p.Q109H	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	92					intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCCAGACAATCTGACCACAGT	0.597000													14	117					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121652139	121652139	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr7:121652139G>A	ENST00000393386.2	+	12	3450	c.3039G>A	c.(3037-3039)ctG>ctA	p.L1013L	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1013					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CAGATGGGCTGACAGCCCTTA	0.418000													10	99					0	0	1	0	0
STAT1	6772	broad.mit.edu	37	2	191847151	191847151	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr2:191847151G>A	ENST00000361099.3	-	18	1927	c.1540C>T	c.(1540-1542)Ctc>Ttc	p.L514F	STAT1_ENST00000392322.3_Missense_Mutation_p.L514F|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.L514F|STAT1_ENST00000392323.2_Missense_Mutation_p.L516F	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	514					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	p.L514V(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TCCACATTGAGACCTCTTTTG	0.398000													20	126					0	0	1	0	0
IRX2	153572	broad.mit.edu	37	5	2748724	2748724	+	Silent	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr5:2748724C>T	ENST00000382611.6	-	3	1346	c.1098G>A	c.(1096-1098)ccG>ccA	p.P366P	IRX2_ENST00000302057.5_Silent_p.P366P	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	366						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		AGCCTCCTGGCGGTGCCCCGG	0.726000													6	77					0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35880662	35880662	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr17:35880662C>A	ENST00000339208.6	-	20	3896	c.3756G>T	c.(3754-3756)ttG>ttT	p.L1252F	SYNRG_ENST00000585472.1_Missense_Mutation_p.L1173F|SYNRG_ENST00000502449.2_Missense_Mutation_p.L1129F|SYNRG_ENST00000394378.2_Missense_Mutation_p.L1197F|SYNRG_ENST00000346661.4_Missense_Mutation_p.L1252F|SYNRG_ENST00000345615.4_Missense_Mutation_p.L1174F|SYNRG_ENST00000591288.1_Missense_Mutation_p.L1046F	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1252					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGTCCACATTCAAGAGGCACA	0.527000													24	68					1.42536e-11	1.52311e-11	1	1	0
FNDC1	84624	broad.mit.edu	37	6	159654401	159654401	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr6:159654401C>G	ENST00000297267.9	+	11	3057	c.2857C>G	c.(2857-2859)Caa>Gaa	p.Q953E	FNDC1_ENST00000340366.6_Missense_Mutation_p.Q890E	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	953						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TCAGGATGTTCAACAGAGCAC	0.622000													7	31					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115350619	115350619	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr10:115350619G>A	ENST00000369358.4	-	40	4942	c.4698C>T	c.(4696-4698)gaC>gaT	p.D1566D	NRAP_ENST00000369360.3_Silent_p.D1531D|NRAP_ENST00000360478.3_Silent_p.D1523D|NRAP_ENST00000359988.3_Silent_p.D1558D			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1558			R -> C (in dbSNP:rs1885434).			fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GCAGGCCTCGGTCCCGCAGGA	0.577000													8	55					0	0	1	0	0
TRAF3IP2	10758	broad.mit.edu	37	6	111912578	111912578	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr6:111912578G>A	ENST00000368761.5	-	2	1190	c.712C>T	c.(712-714)Cag>Tag	p.Q238*	TRAF3IP2_ENST00000340026.6_Nonsense_Mutation_p.Q247*|TRAF3IP2_ENST00000359831.4_Nonsense_Mutation_p.Q238*|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2-AS1_ENST00000532353.1_RNA	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	247					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		GGTTCAAACTGAGGGAACTCC	0.572000													23	80					0	0	1	0	0
CWC25	54883	broad.mit.edu	37	17	36963063	36963063	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr17:36963063G>A	ENST00000225428.5	-	7	1154	c.857C>T	c.(856-858)tCt>tTt	p.S286F	CWC25_ENST00000536127.1_Missense_Mutation_p.S223F	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)											central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						CAGGGATCGAGACCTCCTGTC	0.592000													5	53					0	0	1	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15116005	15116005	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr3:15116005G>A	ENST00000253699.3	-	14	2252	c.1639C>T	c.(1639-1641)Cgg>Tgg	p.R547W	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R547W	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	547	Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TCCAGGGACCGAGTCCGTGTG	0.587000													11	112					0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869719	151869719	+	Missense_Mutation	SNP	G	G	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chrX:151869719G>T	ENST00000329342.5	+	3	634	c.409G>T	c.(409-411)Ggg>Tgg	p.G137W		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	137	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAATGCTGGGGAGTGTCGT	0.512000													20	129					1.85244e-09	1.97077e-09	1	1	0
BRPF1	7862	broad.mit.edu	37	3	9786060	9786060	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr3:9786060G>C	ENST00000383829.2	+	9	3192	c.2788G>C	c.(2788-2790)Gga>Cga	p.G930R	BRPF1_ENST00000433861.2_Intron|BRPF1_ENST00000457855.1_Missense_Mutation_p.G924R|BRPF1_ENST00000302054.3_Missense_Mutation_p.G924R|BRPF1_ENST00000424362.1_Missense_Mutation_p.G923R	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	924	Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CCCCAGCCACGGAGGCAGTCC	0.662000													14	20					0	0	1	0	0
RAD1	5810	broad.mit.edu	37	5	34909006	34909006	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr5:34909006G>C	ENST00000382038.2	-	6	2132	c.713C>G	c.(712-714)tCt>tGt	p.S238C	RAD1_ENST00000341754.4_Missense_Mutation_p.S238C	NM_002853.3	NP_002844.1	O60671	RAD1_HUMAN	RAD1 homolog (S. pombe)	238					DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I	nucleoplasm	3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding			endometrium(3)|large_intestine(1)|lung(5)|urinary_tract(1)	10	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TACCTTACAAGATAGGACTAA	0.348000								Other conserved DNA damage response genes					17	136					0	0	1	0	0
MIEN1	84299	broad.mit.edu	37	17	37886529	37886529	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr17:37886529G>A	ENST00000394231.3	-	2	396	c.105C>T	c.(103-105)ttC>ttT	p.F35F	MIEN1_ENST00000474210.1_Intron|ERBB2_ENST00000584888.1_3'UTR|MIEN1_ENST00000577810.1_Silent_p.F35F			Q9BRT3	CQ037_HUMAN	migration and invasion enhancer 1	35					cell redox homeostasis	cytosol|membrane	selenium binding										AGGTCGCCTCGAAGCCGCAGG	0.687000											OREG0024383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	15					0	0	1	0	0
NR1I2	8856	broad.mit.edu	37	3	119528974	119528974	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr3:119528974G>A	ENST00000393716.2	+	3	2103	c.264G>A	c.(262-264)cgG>cgA	p.R88R	NR1I2_ENST00000466380.1_Silent_p.R88R|NR1I2_ENST00000337940.4_Silent_p.R127R	NM_003889.3	NP_003880	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	88					drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	AGATCACCCGGAAGACCCGGC	0.697000													5	45					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168098352	168098352	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr2:168098352G>C	ENST00000409195.1	+	8	1197	c.1108G>C	c.(1108-1110)Gaa>Caa	p.E370Q	XIRP2_ENST00000295237.9_Missense_Mutation_p.E370Q|XIRP2_ENST00000409756.2_Missense_Mutation_p.E370Q|XIRP2_ENST00000409605.1_Missense_Mutation_p.E148Q|XIRP2_ENST00000409043.1_Missense_Mutation_p.E370Q|XIRP2_ENST00000409273.1_Missense_Mutation_p.E148Q|XIRP2_ENST00000409728.1_Missense_Mutation_p.E403Q|XIRP2_ENST00000420519.1_Missense_Mutation_p.E403Q	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	195					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGAGCAGTTTGAAAAGTCTGC	0.378000													21	69					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98552868	98552868	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr7:98552868G>A	ENST00000359863.4	+	40	6066	c.5857G>A	c.(5857-5859)Gag>Aag	p.E1953K	TRRAP_ENST00000446306.3_Missense_Mutation_p.E1934K|TRRAP_ENST00000355540.3_Missense_Mutation_p.E1935K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1953					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CATTGTGGAGGAGGGGCACAC	0.642000													12	34					0	0	1	0	0
CYP2A6	1548	broad.mit.edu	37	19	41356272	41356272	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:41356272C>G	ENST00000301141.5	-	1	80	c.60G>C	c.(58-60)ttG>ttC	p.L20F	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	20					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding	p.L20F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	AAACAGACATCAAGACCATTA	0.562000													16	107					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206305191	206305191	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr2:206305191G>A	ENST00000406610.2	+	20	3046	c.2839G>A	c.(2839-2841)Gat>Aat	p.D947N	PARD3B_ENST00000358768.2_Missense_Mutation_p.D885N|PARD3B_ENST00000349953.3_Intron|PARD3B_ENST00000351153.1_Missense_Mutation_p.D878N	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	947					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TATGGATGATGATGAAATGGA	0.458000													8	86					0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56530662	56530662	+	Missense_Mutation	SNP	G	G	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr12:56530662G>T	ENST00000394048.5	+	16	2031	c.1767G>T	c.(1765-1767)atG>atT	p.M589I	ESYT1_ENST00000541590.1_Missense_Mutation_p.M599I|ESYT1_ENST00000267113.4_Missense_Mutation_p.M599I	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	589						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GACTCTATATGAAACTAGTCA	0.527000													27	70					2.44723e-14	2.64432e-14	1	1	0
DEFB128	245939	broad.mit.edu	37	20	168640	168640	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr20:168640C>A	ENST00000334391.4	-	2	226	c.169G>T	c.(169-171)Gaa>Taa	p.E57*		NM_001037732.1	NP_001032821.1	Q7Z7B8	DB128_HUMAN	defensin, beta 128	57					defense response to bacterium	extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		all_cancers(10;0.00499)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TTCTCTTCTTCATCATTAGCA	0.383000													69	170					2.60599e-31	2.86718e-31	1	1	0
FILIP1L	11259	broad.mit.edu	37	3	99568944	99568944	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr3:99568944G>C	ENST00000331335.5	-	5	2046	c.1576C>G	c.(1576-1578)Caa>Gaa	p.Q526E	CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.Q526E|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.Q286E|FILIP1L_ENST00000487087.1_Missense_Mutation_p.Q102E|FILIP1L_ENST00000471562.1_Missense_Mutation_p.Q286E	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	526						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TGCTCCACTTGAAGCTGAGAA	0.343000													5	25					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214818325	214818325	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:214818325G>A	ENST00000366955.3	+	13	5580	c.5412G>A	c.(5410-5412)atG>atA	p.M1804I		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1900					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			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)		TAAATGAAATGAAAGAATTAG	0.343000													5	21					0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24652248	24652248	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr14:24652248G>A	ENST00000354464.6	-	23	2531	c.2355C>T	c.(2353-2355)ctC>ctT	p.L785L	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	785					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		GCTTCAGTGTGAGGGTCCCAC	0.662000													41	53					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38958420	38958420	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:38958420G>A	ENST00000355481.4	+	25	3480	c.3349G>A	c.(3349-3351)Gac>Aac	p.D1117N	RYR1_ENST00000359596.3_Missense_Mutation_p.D1117N|RYR1_ENST00000360985.3_Missense_Mutation_p.D1117N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1117	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCTGGGAGCTGACGAGCTGGC	0.632000													23	80					0	0	1	0	0
DAAM1	23002	broad.mit.edu	37	14	59830408	59830408	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr14:59830408G>A	ENST00000395125.1	+	23	2787	c.2764G>A	c.(2764-2766)Gat>Aat	p.D922N	DAAM1_ENST00000351081.1_Missense_Mutation_p.D922N|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000360909.3_Missense_Mutation_p.D912N	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	922	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		ACAGCCCGGAGATAAGTTTGT	0.448000													27	38					0	0	1	0	0
GNAI1	2770	broad.mit.edu	37	7	79846682	79846682	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr7:79846682G>C	ENST00000351004.3	+	8	1311	c.938G>C	c.(937-939)aGa>aCa	p.R313T	GNAI1_ENST00000457358.2_Missense_Mutation_p.R261T	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	313					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						CTCAATAAAAGAAAGGACACA	0.343000													14	23					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50102766	50102766	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:50102766C>G	ENST00000418929.2	+	5	3928	c.3916C>G	c.(3916-3918)Ccg>Gcg	p.P1306A		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	485							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCTGACGCCTCCGCTCAGCCC	0.667000													5	15					0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119044705	119044705	+	Silent	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr11:119044705C>G	ENST00000409109.1	+	5	1334	c.747C>G	c.(745-747)ctC>ctG	p.L249L	NLRX1_ENST00000409991.1_Silent_p.L249L|NLRX1_ENST00000292199.2_Silent_p.L249L|NLRX1_ENST00000525863.1_Silent_p.L249L|NLRX1_ENST00000409265.4_Silent_p.L249L	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	249	NACHT.|Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		ATCTCAACCTCGACTTCCGGC	0.602000													17	80					0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53573408	53573408	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:53573408C>T	ENST00000601421.1	-	3	1147	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	ZNF160_ENST00000429604.1_Missense_Mutation_p.E127K|ZNF160_ENST00000599056.1_Missense_Mutation_p.E127K|ZNF160_ENST00000418871.1_Missense_Mutation_p.E127K			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	127					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		GAAAAGTCTTCAATGTCAGGG	0.423000													22	65					0	0	1	0	0
TMEM38A	79041	broad.mit.edu	37	19	16791370	16791370	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:16791370G>A	ENST00000187762.2	+	3	535	c.444G>A	c.(442-444)atG>atA	p.M148I		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	148						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						GGTTCGTCATGATTGCAACTG	0.522000													25	77					0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45912381	45912381	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr20:45912381G>C	ENST00000311275.7	-	9	1009	c.756C>G	c.(754-756)atC>atG	p.I252M	ZMYND8_ENST00000262975.4_Missense_Mutation_p.I252M|ZMYND8_ENST00000352431.2_Missense_Mutation_p.I272M|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000372023.3_Missense_Mutation_p.I247M|ZMYND8_ENST00000461685.1_Missense_Mutation_p.I272M|ZMYND8_ENST00000536340.1_Missense_Mutation_p.I279M|ZMYND8_ENST00000360911.3_Missense_Mutation_p.I247M|ZMYND8_ENST00000540497.1_Missense_Mutation_p.I247M|ZMYND8_ENST00000446994.2_Missense_Mutation_p.I189M|ZMYND8_ENST00000471951.2_Missense_Mutation_p.I272M|ZMYND8_ENST00000355972.4_Missense_Mutation_p.I252M|ZMYND8_ENST00000458360.2_Missense_Mutation_p.I247M|ZMYND8_ENST00000396281.4_Missense_Mutation_p.I252M	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	252							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GACATACTTCGATTTCATTCA	0.368000													5	39					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138662250	138662250	+	Missense_Mutation	SNP	G	G	A	rs147306623	byFrequency	TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr9:138662250G>A	ENST00000298480.5	+	17	1800	c.1726G>A	c.(1726-1728)Gag>Aag	p.E576K	KCNT1_ENST00000487664.1_Missense_Mutation_p.E531K|KCNT1_ENST00000488444.2_Missense_Mutation_p.E557K|KCNT1_ENST00000371757.2_Missense_Mutation_p.E576K|KCNT1_ENST00000263604.3_Missense_Mutation_p.E557K|KCNT1_ENST00000486577.2_Missense_Mutation_p.E537K|KCNT1_ENST00000490355.2_Missense_Mutation_p.E557K|KCNT1_ENST00000491806.2_Missense_Mutation_p.E543K			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	576						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCGCGAGTACGAGGGCAAGAG	0.637000													52	120					0	0	1	0	0
C14orf39	317761	broad.mit.edu	37	14	60923782	60923782	+	Missense_Mutation	SNP	A	A	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr14:60923782A>G	ENST00000321731.3	-	15	1370	c.1211T>C	c.(1210-1212)gTa>gCa	p.V404A		NM_174978.2	NP_777638	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	404										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ATCATTTTCTACTGACTTCCC	0.343000													31	63					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8719992	8719992	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr20:8719992C>G	ENST00000378641.3	+	21	2768	c.2293C>G	c.(2293-2295)Caa>Gaa	p.Q765E	PLCB1_ENST00000338037.6_Missense_Mutation_p.Q765E|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.Q765E	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	765					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.Q765K(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTTGCCAGTGCAAGCCATTCG	0.393000													16	40					0	0	1	0	0
SMO	6608	broad.mit.edu	37	7	128850951	128850951	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr7:128850951G>A	ENST00000249373.3	+	10	2078	c.1798G>A	c.(1798-1800)Gtg>Atg	p.V600M	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	600					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CGACGGGCCCGTGGGTGAGCC	0.632000			Mis		skin basal cell								36	83					0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	712823	712823	+	Silent	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr16:712823C>T	ENST00000549091.1	+	34	4388	c.4296C>T	c.(4294-4296)ctC>ctT	p.L1432L	WDR90_ENST00000293879.4_Silent_p.L1430L	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1430										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GCACACGTCTCATCAGTGGCC	0.672000													5	5					0	0	1	0	0
VEGFA	7422	broad.mit.edu	37	6	43738906	43738906	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr6:43738906G>T	ENST00000372067.3	+	1	957	c.463G>T	c.(463-465)Gag>Tag	p.E155*	VEGFA_ENST00000413642.3_Nonsense_Mutation_p.E155*|VEGFA_ENST00000372064.4_Nonsense_Mutation_p.E155*|VEGFA_ENST00000520948.1_5'UTR|VEGFA_ENST00000417285.2_Nonsense_Mutation_p.E155*|VEGFA_ENST00000324450.6_Nonsense_Mutation_p.E155*|VEGFA_ENST00000372077.4_5'UTR|VEGFA_ENST00000425836.2_Nonsense_Mutation_p.E155*|VEGFA_ENST00000482630.2_Nonsense_Mutation_p.E155*|VEGFA_ENST00000372055.4_Nonsense_Mutation_p.E155*	NM_001025366.2|NM_001025367.2|NM_001025368.2|NM_001025369.2|NM_001033756.2|NM_001171623.1|NM_001171624.1|NM_001171625.1|NM_001171626.1|NM_001171627.1|NM_001171629.1|NM_003376.5	NP_001020537.2|NP_001020538.2|NP_001020539|NP_001020540.2|NP_001028928.1|NP_001165094.1|NP_001165095.1|NP_001165096.1|NP_001165097.1|NP_001165098.1|NP_001165100.1|NP_003367.4	P15692	VEGFA_HUMAN	vascular endothelial growth factor A	0					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	CCGAGGCGCCGAGGAGAGCGG	0.751000													23	21					7.41877e-09	7.85804e-09	1	1	0
DYRK1B	9149	broad.mit.edu	37	19	40316422	40316422	+	Missense_Mutation	SNP	T	T	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:40316422T>G	ENST00000593685.1	-	11	2291	c.1823A>C	c.(1822-1824)gAc>gCc	p.D608A	DYRK1B_ENST00000348817.3_Missense_Mutation_p.D580A|DYRK1B_ENST00000323039.5_Missense_Mutation_p.D608A|DYRK1B_ENST00000430012.2_Missense_Mutation_p.D568A|DYRK1B_ENST00000597639.1_Missense_Mutation_p.D580A			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	608					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			AGTGGCAGGGTCATCAGGAGG	0.716000													3	2					0	0	1	0	0
ARMC7	79637	broad.mit.edu	37	17	73125084	73125084	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr17:73125084C>G	ENST00000245543.1	+	3	850	c.548C>G	c.(547-549)tCt>tGt	p.S183C	ARMC7_ENST00000579096.1_3'UTR|ARMC7_ENST00000581078.1_3'UTR	NM_024585.2	NP_078861.1	Q9H6L4	ARMC7_HUMAN	armadillo repeat containing 7	183							binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			CAGGCGCACTCTGCCCTGGGT	0.697000													5	27					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15739220	15739220	+	RNA	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:15739220C>T	ENST00000441682.2	+	0	1285							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						ACGTGGTGCTCCCAGACAGCC	0.652000													24	105					0	0	1	0	0
PLAT	5327	broad.mit.edu	37	8	42042622	42042622	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr8:42042622C>G	ENST00000220809.4	-	7	864	c.608G>C	c.(607-609)tGc>tCc	p.C203S	PLAT_ENST00000429089.2_Missense_Mutation_p.C203S|PLAT_ENST00000352041.3_Missense_Mutation_p.C157S|PLAT_ENST00000270189.6_Missense_Mutation_p.C203S|PLAT_ENST00000524009.1_Intron|PLAT_ENST00000519510.1_Missense_Mutation_p.C140S|PLAT_ENST00000429710.2_Intron	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	203	Kringle 1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AGGGGTGCTGCAGAACTCTGA	0.587000													6	39					0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114456513	114456513	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr9:114456513C>G	ENST00000394779.3	-	21	3248	c.3004G>C	c.(3004-3006)Gag>Cag	p.E1002Q	C9orf84_ENST00000374287.3_Missense_Mutation_p.E1041Q|C9orf84_ENST00000318737.4_Missense_Mutation_p.E1041Q|C9orf84_ENST00000394777.4_Missense_Mutation_p.E967Q	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1041										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAATATACCTCAGATGGTGAA	0.333000													30	131					0	0	1	0	0
C9orf85	138241	broad.mit.edu	37	9	74526692	74526692	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr9:74526692G>A	ENST00000486911.2	+	1	116	c.42G>A	c.(40-42)caG>caA	p.Q14Q	C9orf85_ENST00000377031.3_Silent_p.Q14Q|C9orf85_ENST00000334731.2_Silent_p.Q14Q			Q96MD7	CI085_HUMAN	chromosome 9 open reading frame 85	14								p.Q14Q(2)		kidney(2)|large_intestine(1)|lung(4)	7						CCAGACCTCAGAAGCACCAGA	0.512000													35	291					0	0	1	0	0
TEX2	55852	broad.mit.edu	37	17	62290909	62290909	+	Silent	SNP	C	C	T	rs144990420		TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr17:62290909C>T	ENST00000258991.3	-	2	753	c.669G>A	c.(667-669)acG>acA	p.T223T	TEX2_ENST00000584379.1_Silent_p.T223T|TEX2_ENST00000583097.1_Silent_p.T223T			Q8IWB9	TEX2_HUMAN	testis expressed 2	223					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GGGAAGTGTCCGTGGACAGAG	0.532000													7	118					0	0	1	0	0
ACTN4	81	broad.mit.edu	37	19	39220041	39220041	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:39220041C>G	ENST00000252699.2	+	21	2781	c.2705C>G	c.(2704-2706)tCc>tGc	p.S902C	ACTN4_ENST00000424234.2_Missense_Mutation_p.S512C|ACTN4_ENST00000390009.3_Missense_Mutation_p.S683C|ACTN4_ENST00000497637.1_3'UTR	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	902					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AAGTCCTTCTCCACGGCCTTG	0.687000													10	32					0	0	1	0	0
GNAO1	2775	broad.mit.edu	37	16	56374811	56374811	+	Silent	SNP	G	G	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr16:56374811G>T	ENST00000262494.7	+	7	1049	c.789G>T	c.(787-789)acG>acT	p.T263T	GNAO1_ENST00000262493.6_Intron	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	263					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	p.T263T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				TCACAGACACGTCCATCATCC	0.483000													83	264					6.11987e-43	6.76407e-43	1	1	0
EPRS	2058	broad.mit.edu	37	1	220170650	220170650	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:220170650G>A	ENST00000366923.3	-	18	2485	c.2216C>T	c.(2215-2217)tCt>tTt	p.S739F		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	739	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			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)	ATTATTCAGAGAAGGTGTTGG	0.343000													7	56					0	0	1	0	0
TTLL6	284076	broad.mit.edu	37	17	46865306	46865306	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr17:46865306C>T	ENST00000393382.3	-	11	1597	c.1456G>A	c.(1456-1458)Gag>Aag	p.E486K	TTLL6_ENST00000433608.2_Missense_Mutation_p.E179K	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	438						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TTTTCCTTCTCATACGTTTCA	0.473000													18	258					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117996316	117996316	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr12:117996316C>A	ENST00000425217.1	-	8	1355	c.1301G>T	c.(1300-1302)cGa>cTa	p.R434L	KSR2_ENST00000339824.5_Missense_Mutation_p.R463L|KSR2_ENST00000302438.5_Missense_Mutation_p.R160L|KSR2_ENST00000545002.1_5'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	463					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTTACCTCCTCGGTGGATGAT	0.498000													7	42					0.00307968	0.00311189	1	1	0
CERCAM	51148	broad.mit.edu	37	9	131191065	131191065	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr9:131191065C>T	ENST00000372842.1	+	8	3826	c.682C>T	c.(682-684)Cat>Tat	p.H228Y	CERCAM_ENST00000372838.4_Missense_Mutation_p.H306Y			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	306					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GGCCTCAGCTCATGTGACTCG	0.607000													16	58					0	0	1	0	0
PPP2R3C	55012	broad.mit.edu	37	14	35579793	35579793	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr14:35579793C>T	ENST00000261475.5	-	3	582	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	PPP2R3C_ENST00000555644.1_Missense_Mutation_p.E77K	NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	77						centrosome|nucleus	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		GCTCTTGATTCCTCTCTTAAT	0.323000													11	18					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296361	39296361	+	Missense_Mutation	SNP	A	A	G	rs146882220	by1000genomes	TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr17:39296361A>G	ENST00000345847.4	-	1	378	c.379T>C	c.(379-381)Tcc>Ccc	p.S127P		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	123	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						CAGCACTGGGACCTGCAGCAC	0.652000													8	69					0	0	1	0	0
RANBP6	26953	broad.mit.edu	37	9	6012421	6012421	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr9:6012421C>T	ENST00000259569.5	-	1	3197	c.3187G>A	c.(3187-3189)Gat>Aat	p.D1063N		NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	1063					protein transport	cytoplasm|nucleus	binding	p.D1063Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		GCACAAGGATCCTCATAGTTA	0.378000													6	54					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167263148	167263148	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr2:167263148G>A	ENST00000409855.1	-	25	4117	c.3991C>T	c.(3991-3993)Ctg>Ttg	p.L1331L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1331					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GTCATAGGCAGACATAGTCCT	0.398000													26	67					0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119014797	119014797	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr10:119014797C>A	ENST00000298472.5	+	7	853	c.710C>A	c.(709-711)cCc>cAc	p.P237H	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	237					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GTGGGCCCCCCCTTCGGGAGT	0.587000													5	73					0.000602214	0.000613649	1	1	0
HECTD3	79654	broad.mit.edu	37	1	45474321	45474321	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:45474321C>A	ENST00000372172.4	-	8	1196	c.1125G>T	c.(1123-1125)caG>caT	p.Q375H		NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	375	DOC.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					CTAGTTCCCGCTGTCTAGATG	0.542000													83	125					7.43734e-37	8.20145e-37	1	1	0
DCAF4	26094	broad.mit.edu	37	14	73425341	73425341	+	Missense_Mutation	SNP	G	G	A	rs17856584		TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr14:73425341G>A	ENST00000555042.1	+	14	1363	c.1298G>A	c.(1297-1299)aGa>aAa	p.R433K	DCAF4_ENST00000353777.3_Missense_Mutation_p.R269K|DCAF4_ENST00000358377.2_Missense_Mutation_p.R439K|DCAF4_ENST00000509153.1_Missense_Mutation_p.R379K|DCAF4_ENST00000394234.2_Missense_Mutation_p.R339K	NM_001163508.1	NP_001156980.1	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	439						CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						TGCTACACGAGAATCTGGAGC	0.572000													43	46					0	0	1	0	0
CLYBL	171425	broad.mit.edu	37	13	100518586	100518586	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr13:100518586C>G	ENST00000376355.3	+	5	656	c.625C>G	c.(625-627)Ctg>Gtg	p.L209V	CLYBL_ENST00000339105.4_Missense_Mutation_p.L243V|CLYBL_ENST00000444838.2_Missense_Mutation_p.L209V|CLYBL_ENST00000376354.1_Missense_Mutation_p.L209V|CLYBL_ENST00000376360.1_Missense_Mutation_p.L243V	NM_206808.2	NP_996531.1	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	243					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGCCATAGATCTGGTGTACAT	0.473000													14	154					0	0	1	0	0
KLHL7	55975	broad.mit.edu	37	7	23164805	23164805	+	Missense_Mutation	SNP	G	G	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr7:23164805G>T	ENST00000545771.1	+	5	603	c.390G>T	c.(388-390)caG>caT	p.Q130H	KLHL7_ENST00000322275.5_Intron|KLHL7_ENST00000409689.1_Intron|KLHL7_ENST00000479288.1_Intron|KLHL7_ENST00000322231.7_Intron|KLHL7_ENST00000545443.1_Intron|KLHL7_ENST00000339077.5_Intron|KLHL7_ENST00000542558.1_Intron|KLHL7_ENST00000410047.1_Intron|KLHL7_ENST00000539124.1_Intron			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	150						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGAAATATCAGATTCCTGTTG	0.289000													22	26					7.87624e-14	8.49158e-14	1	1	0
GIMAP2	26157	broad.mit.edu	37	7	150389922	150389922	+	Missense_Mutation	SNP	A	A	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr7:150389922A>G	ENST00000223293.5	+	3	642	c.548A>G	c.(547-549)aAt>aGt	p.N183S		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	183						integral to membrane	GTP binding			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)		TGTGCCTTTAATAACCGTGCT	0.468000													15	100					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46805004	46805004	+	Silent	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr22:46805004C>G	ENST00000262738.3	-	9	5114	c.5115G>C	c.(5113-5115)ctG>ctC	p.L1705L		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1705	Laminin G-like 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGATGATGTTCAGGTCACTCC	0.622000													7	56					0	0	1	0	0
UHRF2	115426	broad.mit.edu	37	9	6486893	6486893	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr9:6486893C>G	ENST00000276893.5	+	9	1633	c.1465C>G	c.(1465-1467)Ctt>Gtt	p.L489V	UHRF2_ENST00000485617.2_3'UTR	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	489	Methyl-CpG binding and interaction with HDAC1.|YDG.				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		GGCTTATTCTCTTGTACTGGC	0.413000													10	45					0	0	1	0	0
PPP4R1	9989	broad.mit.edu	37	18	9595103	9595103	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr18:9595103G>C	ENST00000400556.3	-	3	174	c.101C>G	c.(100-102)tCa>tGa	p.S34*	PPP4R1_ENST00000400555.3_Intron	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	34					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						GTCCAGGGCTGAAGGTATAAT	0.398000													11	101					0	0	1	0	0
STAT1	6772	broad.mit.edu	37	2	191841679	191841679	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr2:191841679C>T	ENST00000361099.3	-	22	2333	c.1946G>A	c.(1945-1947)cGc>cAc	p.R649H	STAT1_ENST00000392322.3_Missense_Mutation_p.R649H|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.R649H|STAT1_ENST00000392323.2_Missense_Mutation_p.R651H	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	649	SH2.				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	p.R649H(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TTTGTAATTGCGAATGATGTC	0.403000													8	98					0	0	1	0	0
DENND4C	55667	broad.mit.edu	37	9	19341064	19341064	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr9:19341064G>A	ENST00000380432.2	+	16	2134	c.2101G>A	c.(2101-2103)Gaa>Aaa	p.E701K	DENND4C_ENST00000434457.2_Missense_Mutation_p.E986K|DENND4C_ENST00000602925.1_Missense_Mutation_p.E937K			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	701						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TGTGCCTGAAGAACAGGCAGC	0.343000													8	47					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41556984	41556984	+	Silent	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr8:41556984C>T	ENST00000396942.1	-	23	2627	c.2544G>A	c.(2542-2544)ccG>ccA	p.P848P	ANK1_ENST00000352337.4_Silent_p.P848P|ANK1_ENST00000379758.2_Silent_p.P848P|ANK1_ENST00000289734.7_Silent_p.P848P|ANK1_ENST00000396945.1_Silent_p.P848P|ANK1_ENST00000347528.4_Silent_p.P848P|ANK1_ENST00000265709.8_Silent_p.P889P			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	848					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGTCTAGCTTCGGCACAAAAT	0.577000													8	90					0	0	1	0	0
PARP9	83666	broad.mit.edu	37	3	122259339	122259339	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr3:122259339C>T	ENST00000462315.1	-	8	2038	c.1745G>A	c.(1744-1746)cGa>cAa	p.R582Q	PARP9_ENST00000360356.2_Missense_Mutation_p.R617Q|PARP9_ENST00000477522.2_Missense_Mutation_p.R582Q|PARP9_ENST00000492382.1_Missense_Mutation_p.R162Q|PARP9_ENST00000471785.1_Missense_Mutation_p.R582Q	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	617					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CCAAAGGCCTCGCTCCTTTTT	0.428000													14	34					0	0	1	0	0
KCNS3	3790	broad.mit.edu	37	2	18112855	18112855	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr2:18112855G>A	ENST00000403915.1	+	3	1031	c.580G>A	c.(580-582)Gtg>Atg	p.V194M	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.V194M	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	194					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTCCTTGAGCGTGGTGCTGGC	0.532000													5	59					0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145113543	145113543	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr8:145113543G>A	ENST00000426825.1	-	6	720	c.639C>T	c.(637-639)ttC>ttT	p.F213F	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	213							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	ACACGTGCGTGAAGCCCAGCT	0.682000													7	47					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3674135	3674135	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr20:3674135C>T	ENST00000344754.4	-	13	3466	c.3467G>A	c.(3466-3468)cGg>cAg	p.R1156Q	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R1156Q	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1156	Ig-like C2-type 11.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCGGGGTGCCCGACCAGGGGG	0.647000													7	53					0	0	1	0	0
RBBP4	5928	broad.mit.edu	37	1	33117606	33117606	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:33117606G>A	ENST00000373493.5	+	2	267	c.108G>A	c.(106-108)atG>atA	p.M36I	RBBP4_ENST00000544435.1_5'UTR|RBBP4_ENST00000414241.3_Missense_Mutation_p.M35I|RBBP4_ENST00000458695.2_Start_Codon_SNP_p.M1I|RBBP4_ENST00000524393.1_3'UTR|RBBP4_ENST00000373485.1_Missense_Mutation_p.M36I	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	36					cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				ATTTGGTGATGACCCATGCTC	0.448000													5	80					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87735666	87735666	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr4:87735666G>T	ENST00000436978.1	+	48	7915	c.7435G>T	c.(7435-7437)Gaa>Taa	p.E2479*	PTPN13_ENST00000427191.2_Nonsense_Mutation_p.E2455*|PTPN13_ENST00000511467.1_Nonsense_Mutation_p.E2479*|PTPN13_ENST00000411767.2_Nonsense_Mutation_p.E2474*|PTPN13_ENST00000316707.6_Nonsense_Mutation_p.E2283*	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2474						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCTTCAAGCAGAAGAAGAGCA	0.403000													5	34					0.000602214	0.000613649	1	1	0
OR2T1	26696	broad.mit.edu	37	1	248569430	248569430	+	Silent	SNP	C	C	A	rs145103744		TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:248569430C>A	ENST00000366474.1	+	1	135	c.135C>A	c.(133-135)atC>atA	p.I45I		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I45I(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TACCTTATATCGGCACAACTG	0.378000													32	65					2.85442e-18	3.11215e-18	1	1	0
MFAP3L	9848	broad.mit.edu	37	4	170913357	170913357	+	Silent	SNP	C	C	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr4:170913357C>A	ENST00000361618.3	-	3	709	c.402G>T	c.(400-402)gtG>gtT	p.V134V	MFAP3L_ENST00000393704.3_Silent_p.V31V|RP11-6E9.4_ENST00000508955.1_RNA	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	134	Ig-like C2-type.					integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		CCGTGTTGTTCACGGTGCCGT	0.527000													18	116					4.30721e-22	4.71742e-22	1	1	0
HMGCS1	3157	broad.mit.edu	37	5	43292661	43292661	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr5:43292661C>T	ENST00000325110.6	-	10	1594	c.1388G>A	c.(1387-1389)aGa>aAa	p.R463K	HMGCS1_ENST00000433297.2_Missense_Mutation_p.R463K	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	463					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						GTAAGTTCTTCTGTGCTTTTC	0.413000													22	71					0	0	1	0	0
NCOA7	135112	broad.mit.edu	37	6	126210683	126210683	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr6:126210683G>A	ENST00000368357.3	+	10	1835	c.1483G>A	c.(1483-1485)Gaa>Aaa	p.E495K	NCOA7_ENST00000229634.9_Missense_Mutation_p.E380K|NCOA7_ENST00000392477.2_Missense_Mutation_p.E495K	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	495					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		TATAATGCCAGAAGTGGACAA	0.428000													10	61					0	0	1	0	0
MICALL1	85377	broad.mit.edu	37	22	38323565	38323565	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr22:38323565C>T	ENST00000215957.6	+	9	1739	c.1613C>T	c.(1612-1614)tCa>tTa	p.S538L	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	538	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					AAGAGCTCCTCAGAGCCTGCT	0.637000													16	125					0	0	1	0	0
TRAF2	7186	broad.mit.edu	37	9	139811039	139811039	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr9:139811039G>C	ENST00000359662.3	+	7	851	c.806G>C	c.(805-807)aGa>aCa	p.R269T	TRAF2_ENST00000482854.1_3'UTR|TRAF2_ENST00000247668.2_Missense_Mutation_p.R217T|TRAF2_ENST00000536468.1_Missense_Mutation_p.R217T			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	217				Missing (in Ref. 2; BAB70792).	activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		GTCCCTTGCAGATTCCACGCC	0.582000													17	116					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182845243	182845243	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:182845243C>G	ENST00000367549.3	+	17	1984	c.1874C>G	c.(1873-1875)tCt>tGt	p.S625C		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	625					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TTGAGCATGTCTCAATTGAAC	0.388000													38	65					0	0	1	0	0
SMC1A	8243	broad.mit.edu	37	X	53432727	53432727	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chrX:53432727G>A	ENST00000322213.4	-	10	1834	c.1707C>T	c.(1705-1707)acC>acT	p.T569T	SMC1A_ENST00000375340.6_Silent_p.T335T	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	569	Flexible hinge.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						GAGGCAAGAAGGTCTCAGGCT	0.537000													11	9					0	0	1	0	0
EIF3D	8664	broad.mit.edu	37	22	36914924	36914924	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr22:36914924C>T	ENST00000216190.8	-	9	1115	c.745G>A	c.(745-747)Gat>Aat	p.D249N	EIF3D_ENST00000541106.1_Missense_Mutation_p.D200N|EIF3D_ENST00000405442.1_Missense_Mutation_p.D249N	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN	eukaryotic translation initiation factor 3, subunit D	249						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						AGGATGGCATCAGTGGCAAAC	0.502000													14	44					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086108	9086108	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:9086108C>T	ENST00000397910.4	-	1	5910	c.5707G>A	c.(5707-5709)Gaa>Aaa	p.E1903K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1903	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						GAAGACACTTCACTCTTCTCT	0.488000													7	50					0	0	1	0	0
SEPT4	5414	broad.mit.edu	37	17	56598156	56598156	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr17:56598156G>A	ENST00000457347.2	-	12	1514	c.1370C>T	c.(1369-1371)cCa>cTa	p.P457L	SEPT4_ENST00000426861.1_3'UTR|SEPT4_ENST00000579371.1_Intron|SEPT4_ENST00000412945.3_Missense_Mutation_p.P434L|SEPT4_ENST00000317268.3_Missense_Mutation_p.P442L|SEPT4_ENST00000580844.1_Missense_Mutation_p.P343L|SEPT4_ENST00000393086.1_Missense_Mutation_p.P423L|SEPT4_ENST00000583114.1_Missense_Mutation_p.P295L|SEPT4_ENST00000317256.6_Missense_Mutation_p.P423L|RP11-112H10.4_ENST00000580589.1_RNA	NM_001256782.1	NP_001243711.1	O43236	SEPT4_HUMAN	septin 4	442					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTCCCTGGTGGGACAGCAGG	0.532000											OREG0024614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	52	207					0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38500984	38500984	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr7:38500984G>A	ENST00000356264.2	-	11	1131	c.916C>T	c.(916-918)Cta>Tta	p.L306L	AMPH_ENST00000428293.2_Silent_p.L306L|AMPH_ENST00000325590.5_Silent_p.L306L	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	306					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						ACTTTAGGTAGAGGTGGGACA	0.448000													13	111					0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67579886	67579886	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr14:67579886G>A	ENST00000478722.1	+	16	2745	c.1624G>A	c.(1624-1626)Gag>Aag	p.E542K	GPHN_ENST00000315266.5_Missense_Mutation_p.E509K|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Missense_Mutation_p.E478K|GPHN_ENST00000543237.1_Missense_Mutation_p.E555K	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	509	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AACAGGGAATGAGGTATTAAA	0.413000			T	MLL	AL								6	64					0	0	1	0	0
ZNF226	7769	broad.mit.edu	37	19	44676286	44676286	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr19:44676286G>A	ENST00000588883.1	+	4	369	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	ZNF226_ENST00000589160.1_Missense_Mutation_p.E21K|ZNF226_ENST00000413984.2_Missense_Mutation_p.E21K|ZNF226_ENST00000588795.1_Missense_Mutation_p.E21K|ZNF226_ENST00000588742.1_Missense_Mutation_p.E21K|ZNF226_ENST00000337433.5_Missense_Mutation_p.E21K|ZNF226_ENST00000454662.2_Missense_Mutation_p.E21K|ZNF226_ENST00000300823.6_Missense_Mutation_p.E21K|ZNF226_ENST00000590089.1_Missense_Mutation_p.E21K			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				CACGGAGGAGGAATTGGGGCT	0.537000													14	215					0	0	1	0	0
TRAF2	7186	broad.mit.edu	37	9	139814838	139814838	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr9:139814838G>A	ENST00000359662.3	+	8	1032	c.987G>A	c.(985-987)aaG>aaA	p.K329K	TRAF2_ENST00000247668.2_Silent_p.K277K|TRAF2_ENST00000536468.1_Silent_p.K277K			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	277					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		GCCTGGAGAAGAAGACGGCCA	0.642000													9	107					0	0	1	0	0
GLG1	2734	broad.mit.edu	37	16	74525054	74525054	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr16:74525054C>A	ENST00000422840.2	-	8	1293	c.1294G>T	c.(1294-1296)Gaa>Taa	p.E432*	GLG1_ENST00000205061.5_Nonsense_Mutation_p.E432*|GLG1_ENST00000447066.2_Nonsense_Mutation_p.E421*	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	432						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GAAAAGTCTTCCATCAACATG	0.502000													69	96					6.72169e-28	7.37859e-28	1	1	0
SPPL2C	162540	broad.mit.edu	37	17	43922962	43922962	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr17:43922962G>A	ENST00000329196.5	+	1	707	c.690G>A	c.(688-690)ctG>ctA	p.L230L	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	230						integral to membrane	aspartic-type endopeptidase activity										ACCATCAGCTGCAGGAAGCTG	0.652000													19	104					0	0	1	0	0
CWC25	54883	broad.mit.edu	37	17	36963158	36963158	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr17:36963158C>T	ENST00000225428.5	-	7	1059	c.762G>A	c.(760-762)atG>atA	p.M254I	CWC25_ENST00000536127.1_Missense_Mutation_p.M191I	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)											central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						AATGGTTCTTCATCCCATGCC	0.532000													7	81					0	0	1	0	0
PRMT10	90826	broad.mit.edu	37	4	148594917	148594917	+	Silent	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr4:148594917C>T	ENST00000322396.6	-	3	689	c.447G>A	c.(445-447)gtG>gtA	p.V149V	PRMT10_ENST00000541232.1_Silent_p.V36V	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	149						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						GCCAGCGTTCCACCAACCAGT	0.403000													13	52					0	0	1	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213436150	213436150	+	Silent	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:213436150C>G	ENST00000366960.3	+	14	3231	c.3081C>G	c.(3079-3081)ctC>ctG	p.L1027L	RPS6KC1_ENST00000543470.1_Silent_p.L815L|RPS6KC1_ENST00000366959.3_Silent_p.L1015L|RPS6KC1_ENST00000543354.1_3'UTR|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	1027	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CTCGCTCACTCATTCAACAGG	0.413000													9	71					0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	715958	715958	+	Silent	SNP	C	C	G			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr16:715958C>G	ENST00000549091.1	+	36	4541	c.4449C>G	c.(4447-4449)ctC>ctG	p.L1483L	WDR90_ENST00000315764.4_Silent_p.L80L|WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000293879.4_Silent_p.L1481L|WDR90_ENST00000547944.1_Silent_p.L80L	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1481										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				AGAGCTGCCTCTGCCTGGCAT	0.697000													11	62					0	0	1	0	0
CCHCR1	54535	broad.mit.edu	37	6	31118537	31118537	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr6:31118537C>A	ENST00000396268.3	-	6	1254	c.1066G>T	c.(1066-1068)Gaa>Taa	p.E356*	CCHCR1_ENST00000376266.5_Nonsense_Mutation_p.E267*|CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000451521.2_Nonsense_Mutation_p.E320*|CCHCR1_ENST00000396263.2_Nonsense_Mutation_p.E267*	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	267					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CGCTCCAGTTCCCATGTCTGG	0.532000													135	343					1.84813e-57	2.04736e-57	1	1	0
RIF1	55183	broad.mit.edu	37	2	152321825	152321825	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr2:152321825G>C	ENST00000243326.5	+	29	6274	c.5791G>C	c.(5791-5793)Gag>Cag	p.E1931Q	RIF1_ENST00000430328.2_Missense_Mutation_p.E1931Q|RIF1_ENST00000444746.2_Missense_Mutation_p.E1931Q|RIF1_ENST00000453091.2_Missense_Mutation_p.E1931Q|RIF1_ENST00000428287.2_Missense_Mutation_p.E1931Q			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)		Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TCATGGACAAGAGAGAACCAA	0.353000													8	76					0	0	1	0	0
DBR1	51163	broad.mit.edu	37	3	137882265	137882265	+	Silent	SNP	G	G	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr3:137882265G>A	ENST00000260803.4	-	7	1020	c.867C>T	c.(865-867)ctC>ctT	p.L289L	DBR1_ENST00000505015.2_Silent_p.L55L	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	289						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CCGTAGCCCTGAGAATAGTGA	0.398000													4	48					0	0	1	0	0
PURG	29942	broad.mit.edu	37	8	30889363	30889363	+	Silent	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr8:30889363C>T	ENST00000475541.1	-	1	1868	c.936G>A	c.(934-936)gaG>gaA	p.E312E	PURG_ENST00000339382.2_Intron	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	312						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		TGATAAAATTCTCCCCAAACC	0.393000													4	8					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113205938	113205938	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr9:113205938C>T	ENST00000401783.2	-	27	4862	c.4526G>A	c.(4525-4527)aGa>aAa	p.R1509K	SVEP1_ENST00000302728.8_Missense_Mutation_p.R1509K|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.R1486K	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1509	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATGATGCCATCTGCCATCATT	0.453000													9	32					0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176314610	176314610	+	Missense_Mutation	SNP	C	C	T	rs61741552	byFrequency	TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr5:176314610C>T	ENST00000292432.5	-	11	1533	c.1442G>A	c.(1441-1443)cGc>cAc	p.R481H		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	481	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	p.R481H(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCCAGCAGGCGCCGGTGGGC	0.662000													27	54					0	0	1	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238045619	238045620	+	RNA	INS	-	-	A			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr1:238045619_238045620insA	ENST00000450451.1	+	0	307					NR_027247.2																						GTTATACTACCAAGCTTAAGAG	0.351													12	21	---	---	---	---					
GCNT2	2651	broad.mit.edu	37	6	10586243	10586243	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr6:10586243delC	ENST00000265012.4	+	1	265	c.21delC	c.(19-21)tgcfs	p.C7fs	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron	NM_145655.3	NP_663630.2	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	8						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GGAGGTACTGCTTTTTTGCTT	0.413													54	117	---	---	---	---					
NKAIN3	286183	broad.mit.edu	37	8	63492158	63492159	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr8:63492158_63492159insC	ENST00000523211.1	+	2	247_248	c.115_116insC	c.(115-117)ggafs	p.G39fs	NKAIN3_ENST00000328472.5_Frame_Shift_Ins_p.G39fs|NKAIN3_ENST00000519049.1_3'UTR	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	39						integral to membrane|plasma membrane				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				GCCTATTCTTGGAAATTTTCTA	0.371													7	79	---	---	---	---					
AKNA	80709	broad.mit.edu	37	9	117113216	117113216	+	Frame_Shift_Del	DEL	G	G	-	rs144860883	byFrequency	TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr9:117113216delG	ENST00000307564.4	-	15	3305	c.3144delC	c.(3142-3144)cccfs	p.P1048fs	AKNA_ENST00000223791.3_Frame_Shift_Del_p.P508fs|AKNA_ENST00000374088.3_Frame_Shift_Del_p.P1048fs|AKNA_ENST00000374075.5_Frame_Shift_Del_p.P967fs	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1048					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CGGCAGGGGCGGGGGCTGGGG	0.607													20	123	---	---	---	---					
STXBP1	6812	broad.mit.edu	37	9	130422354	130422354	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr9:130422354delA	ENST00000373302.3	+	5	431	c.292delA	c.(292-294)aaafs	p.K98fs	STXBP1_ENST00000373299.1_Frame_Shift_Del_p.K98fs	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	98					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						GCCGACTGCTAAATACCGGGC	0.527													12	48	---	---	---	---					
ARHGAP20	57569	broad.mit.edu	37	11	110451085	110451085	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr11:110451085delC	ENST00000260283.4	-	16	2869	c.2585delG	c.(2584-2586)ggafs	p.G862fs	ARHGAP20_ENST00000529591.1_Frame_Shift_Del_p.G405fs|ARHGAP20_ENST00000528829.1_Frame_Shift_Del_p.G826fs|ARHGAP20_ENST00000357139.3_Frame_Shift_Del_p.G836fs|ARHGAP20_ENST00000527598.1_Frame_Shift_Del_p.G826fs|ARHGAP20_ENST00000533353.1_Frame_Shift_Del_p.G836fs|ARHGAP20_ENST00000524756.1_Frame_Shift_Del_p.G839fs	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	862					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TGAATAAATTCCCCTGAGATA	0.498													32	56	---	---	---	---					
RP11-377D9.3	0	broad.mit.edu	37	12	13174142	13174144	+	RNA	DEL	AAC	AAC	-	rs59907395		TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr12:13174142_13174144delAAC	ENST00000543321.1	+	0	1025																											ctgtctcaaaaacaacaacaaca	0.552													4	5	---	---	---	---					
FAM60A	58516	broad.mit.edu	37	12	31448177	31448178	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr12:31448177_31448178insT	ENST00000337682.4	-	3	586_587	c.218_219insA	c.(217-219)aacfs	p.N73fs	FAM60A_ENST00000395766.1_5'UTR|FAM60A_ENST00000539409.1_Intron|FAM60A_ENST00000454658.2_Frame_Shift_Ins_p.N73fs|FAM60A_ENST00000542983.1_5'UTR	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	73										large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					CATGATTCCAGTTTTTTTTTGA	0.356													7	23	---	---	---	---					
BTBD7	55727	broad.mit.edu	37	14	93761192	93761193	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr14:93761192_93761193insT	ENST00000334746.5	-	3	480_481	c.173_174insA	c.(172-174)aagfs	p.K58fs	BTBD7_ENST00000298896.3_Frame_Shift_Ins_p.K58fs|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000555525.1_Frame_Shift_Ins_p.K58fs	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	58								p.K58fs*44(2)|p.R59fs*14(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CAGAGGTTCTCTTTTTTTTGTC	0.441													7	146	---	---	---	---					
SLC47A2	146802	broad.mit.edu	37	17	19617232	19617233	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-HQ-A5NE-01A-12D-A289-08	TCGA-HQ-A5NE-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92460195-9483-4350-a20b-580c4a8835c7	b615578c-7ce1-4070-9680-570f07fa2e2d	g.chr17:19617232_19617233delGC	ENST00000350657.5	-	4	522_523	c.348_349delGC	c.(346-351)gcgctgfs	p.L117fs	SLC47A2_ENST00000463318.1_5'UTR|SLC47A2_ENST00000325411.5_Frame_Shift_Del_p.L117fs	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	117						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					AGCAGGACCAGCGCGCCCCGCT	0.673													40	118	---	---	---	---