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
FES	2242	broad.mit.edu	37	15	91436007	91436007	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr15:91436007G>A	ENST00000328850.3	+	14	1920	c.1778G>A	c.(1777-1779)cGa>cAa	p.R593Q	FES_ENST00000414248.2_Missense_Mutation_p.R465Q|FES_ENST00000450438.2_Missense_Mutation_p.R465Q|FES_ENST00000444422.2_Missense_Mutation_p.R523Q|FES_ENST00000394300.3_Missense_Mutation_p.R535Q|FES_ENST00000394302.1_Missense_Mutation_p.R465Q	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	593	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			AAGTCTTGTCGAGAGACGCTC	0.577000													6	37					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188818	140188818	+	Silent	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:140188818G>A	ENST00000530339.1	+	1	2046	c.2046G>A	c.(2044-2046)gcG>gcA	p.A682A	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.A682A|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Silent_p.A682A	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCACGGGCGTTGGTGGGCG	0.637000													25	98					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14822685	14822685	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr12:14822685G>A	ENST00000261170.3	-	10	1389	c.1253C>T	c.(1252-1254)tCt>tTt	p.S418F	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	418					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AGGAAGTTTAGAGTTCTTCCA	0.398000													3	26					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26717839	26717839	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr2:26717839C>G	ENST00000272371.2	-	9	994	c.868G>C	c.(868-870)Gag>Cag	p.E290Q	OTOF_ENST00000403946.3_Missense_Mutation_p.E290Q	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	290	C2 1.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTAGTGGACTCCTTCATGGAT	0.592000													11	86					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155241740	155241740	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr4:155241740A>G	ENST00000357232.3	-	14	3445	c.3446T>C	c.(3445-3447)cTg>cCg	p.L1149P		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1149	Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTGTGCTGTCAGTGATCTCAG	0.468000													4	91					0	0	1	0	0
USP38	84640	broad.mit.edu	37	4	144106718	144106718	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr4:144106718G>A	ENST00000307017.4	+	1	621	c.115G>A	c.(115-117)Gag>Aag	p.E39K	USP38_ENST00000510377.1_Missense_Mutation_p.E39K	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	39					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					GGCGCAGTGCGAGGCCATGTT	0.652000													11	67					0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91470852	91470852	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr10:91470852G>C	ENST00000416354.1	+	6	697	c.625G>C	c.(625-627)Gag>Cag	p.E209Q	KIF20B_ENST00000260753.4_Missense_Mutation_p.E209Q|KIF20B_ENST00000394289.2_Missense_Mutation_p.E209Q|KIF20B_ENST00000371728.3_Missense_Mutation_p.E209Q			Q96Q89	KI20B_HUMAN	kinesin family member 20B	209	Kinesin-motor.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ATCAGAACAAGAGAAAGAAGA	0.299000													3	17					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71197410	71197410	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr14:71197410C>T	ENST00000554752.2	-	12	3001	c.3002G>A	c.(3001-3003)cGg>cAg	p.R1001Q	MAP3K9_ENST00000555993.2_Missense_Mutation_p.R1015Q|MAP3K9_ENST00000553414.1_Missense_Mutation_p.R734Q|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R729Q|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R978Q			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	1001					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CAGCCGTTGCCGGTTGGCAGA	0.637000													5	89					0	0	1	0	0
PNPT1	87178	broad.mit.edu	37	2	55900074	55900074	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr2:55900074G>A	ENST00000447944.2	-	9	906	c.820C>T	c.(820-822)Cag>Tag	p.Q274*		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	274					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AATAACTTCTGAGGTGTCCTC	0.363000													9	37					0	0	1	0	0
NIPAL1	152519	broad.mit.edu	37	4	48037921	48037921	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr4:48037921C>T	ENST00000295461.5	+	6	1031	c.965C>T	c.(964-966)tCt>tTt	p.S322F		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	322						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						GTGACTTGCTCTGCCATCTTA	0.413000													7	34					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													4	22					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30977169	30977169	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr2:30977169C>G	ENST00000295055.8	-	9	1104	c.928G>C	c.(928-930)Gat>Cat	p.D310H	CAPN13_ENST00000534090.2_Missense_Mutation_p.D310H	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	310	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AACTCGCCATCTTCCCGTTTC	0.443000													3	5					0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56436623	56436623	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr15:56436623G>C	ENST00000423270.1	-	3	253	c.254C>G	c.(253-255)tCt>tGt	p.S85C	RFX7_ENST00000559447.2_5'UTR|RFX7_ENST00000422057.1_5'UTR|RFX7_ENST00000317318.6_Missense_Mutation_p.S85C	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	726					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GCTGAGACCAGAAGGCAGCTG	0.348000													5	20					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16254889	16254889	+	Silent	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:16254889G>A	ENST00000375759.3	+	11	2358	c.2154G>A	c.(2152-2154)gaG>gaA	p.E718E		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	718	Arg-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAGACCATGAGAGGAGGCCGA	0.488000													11	46					0	0	1	0	0
PAIP1	10605	broad.mit.edu	37	5	43529915	43529915	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:43529915C>T	ENST00000306846.3	-	10	1551	c.1319G>A	c.(1318-1320)gGa>gAa	p.G440E	PAIP1_ENST00000514514.1_Intron|PAIP1_ENST00000436644.2_Missense_Mutation_p.G361E|PAIP1_ENST00000338972.4_Missense_Mutation_p.G328E	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	440	PABPC1-interacting motif-1 (PAM1).				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					TAAATCTGTTCCATTTTCTTC	0.348000													3	32					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64644310	64644310	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr3:64644310C>G	ENST00000498707.1	-	4	1179	c.837G>C	c.(835-837)aaG>aaC	p.K279N	ADAMTS9_ENST00000459780.1_Missense_Mutation_p.K279N|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.K279N	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	279					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGTGGGTCCTCTTTTCTCTTG	0.438000													20	109					0	0	1	0	0
SERPINB9	5272	broad.mit.edu	37	6	2895698	2895698	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr6:2895698C>A	ENST00000380698.4	-	4	440	c.351G>T	c.(349-351)aaG>aaT	p.K117N		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	117					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				AGGAAAGCTCCTTCAGCTCAG	0.423000													9	28					2.17888e-05	2.26919e-05	1	1	0
AFAP1L2	84632	broad.mit.edu	37	10	116067594	116067594	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr10:116067594C>A	ENST00000369271.3	-	10	1342	c.1042G>T	c.(1042-1044)Gag>Tag	p.E348*	AFAP1L2_ENST00000545353.1_Nonsense_Mutation_p.E401*|AFAP1L2_ENST00000304129.4_Nonsense_Mutation_p.E348*	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	348					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		TCCACAGGCTCCAGTGAGGTG	0.512000													4	35					0.00909568	0.00932771	1	1	0
SFSWAP	6433	broad.mit.edu	37	12	132283601	132283601	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr12:132283601G>A	ENST00000261674.4	+	17	2878	c.2737G>A	c.(2737-2739)Gaa>Aaa	p.E913K	SFSWAP_ENST00000539506.1_3'UTR|SFSWAP_ENST00000541286.1_Missense_Mutation_p.E965K	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	913	Arg/Ser-rich (RS domain).				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						TCAGGAAAAAGAAGCCCAGAT	0.557000													6	36					0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148418028	148418028	+	Silent	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:148418028C>T	ENST00000515425.1	-	8	932	c.831G>A	c.(829-831)acG>acA	p.T277T	SH3TC2_ENST00000512049.1_Silent_p.T270T|SH3TC2_ENST00000538184.1_5'UTR|SH3TC2_ENST00000394358.2_Silent_p.T162T	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	277	SH3.						binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCATAACCCGTCAAGGCCT	0.478000													8	80					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15936847	15936847	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:15936847G>A	ENST00000504595.1	+	4	1509	c.1028G>A	c.(1027-1029)cGg>cAg	p.R343Q	FBXL7_ENST00000329673.7_Missense_Mutation_p.R331Q|FBXL7_ENST00000510662.1_Missense_Mutation_p.R296Q	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	343					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TTCGGCCTGCGGGAGATCGCC	0.667000													3	20					0	0	1	0	0
VPS4A	27183	broad.mit.edu	37	16	69354105	69354105	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr16:69354105G>A	ENST00000254950.11	+	7	838	c.682G>A	c.(682-684)Gag>Aag	p.E228K	COG8_ENST00000564419.1_5'UTR|RP11-343C2.3_ENST00000570054.2_Missense_Mutation_p.E252K|VPS4A_ENST00000569775.1_Intron	NM_013245.2	NP_037377.1	Q9UN37	VPS4A_HUMAN	vacuolar protein sorting 4 homolog A (S. cerevisiae)	228					cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				CTTCATCGATGAGGTGGATTC	0.567000													5	41					0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123097728	123097728	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr12:123097728G>A	ENST00000333479.7	+	54	5869	c.5692G>A	c.(5692-5694)Gac>Aac	p.D1898N	KNTC1_ENST00000450485.2_Missense_Mutation_p.D823N|KNTC1_ENST00000537348.1_Missense_Mutation_p.D323N|KNTC1_ENST00000436959.3_5'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1898					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CTATTTGGCTGACAAGGAAAC	0.333000													6	38					0	0	1	0	0
OR10H2	26538	broad.mit.edu	37	19	15839311	15839311	+	Missense_Mutation	SNP	C	C	T	rs139469467		TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr19:15839311C>T	ENST00000305899.3	+	1	478	c.458C>T	c.(457-459)tCg>tTg	p.S153L		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GCTGGTGGCTCGGTCATGGGG	0.592000													4	88					0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88854078	88854078	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr6:88854078C>T	ENST00000537554.1	-	2	4478	c.916G>A	c.(916-918)Gtc>Atc	p.V306I	CNR1_ENST00000549890.1_Missense_Mutation_p.V306I|CNR1_ENST00000369499.2_Missense_Mutation_p.V306I|CNR1_ENST00000468898.1_Missense_Mutation_p.V273I|CNR1_ENST00000549716.1_Missense_Mutation_p.V245I|CNR1_ENST00000428600.2_Missense_Mutation_p.V306I|CNR1_ENST00000369501.2_Missense_Mutation_p.V306I|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000535130.1_Missense_Mutation_p.V306I	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	306					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	ATCATGCGGACGGCGTGGCTG	0.547000													13	81					0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39645740	39645740	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr8:39645740G>C	ENST00000265708.4	-	9	776	c.673C>G	c.(673-675)Ctg>Gtg	p.L225V	ADAM2_ENST00000521880.1_Missense_Mutation_p.L225V|ADAM2_ENST00000347580.4_Missense_Mutation_p.L206V|ADAM2_ENST00000379853.2_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	225	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AATGAAGACAGAATAATTGTA	0.259000													3	22					0	0	1	0	0
FAM196A	642938	broad.mit.edu	37	10	128974117	128974117	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr10:128974117C>T	ENST00000522781.1	-	4	1098	c.543G>A	c.(541-543)atG>atA	p.M181I	FAM196A_ENST00000424811.2_Missense_Mutation_p.M181I|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	181										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCACTGTGTTCATGTGTTGGT	0.597000													12	95					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			4	18					0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62943490	62943490	+	Silent	SNP	T	T	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr12:62943490T>C	ENST00000393630.3	+	24	3190	c.2799T>C	c.(2797-2799)gtT>gtC	p.V933V	MON2_ENST00000393632.2_Silent_p.V932V|MON2_ENST00000546600.1_Silent_p.V932V|MON2_ENST00000552738.1_Silent_p.V909V|MON2_ENST00000552115.1_Silent_p.V932V|MON2_ENST00000393629.2_Silent_p.V932V|MON2_ENST00000280379.6_Silent_p.V933V	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	933					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTCAGTTGGTTGTGACAGATT	0.343000													11	36					0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65703569	65703569	+	Silent	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr15:65703569C>T	ENST00000352385.2	-	2	419	c.210G>A	c.(208-210)gtG>gtA	p.V70V		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	70	Ig-like C2-type 1.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TGCTCCAGGTCACCCTGGTGG	0.642000													4	40					0	0	1	0	0
LINS	55180	broad.mit.edu	37	15	101112104	101112104	+	Silent	SNP	C	C	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr15:101112104C>G	ENST00000314742.8	-	6	1611	c.1389G>C	c.(1387-1389)ctG>ctC	p.L463L		NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	463										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						CTAACCTGGTCAGTGTTAAGT	0.433000													5	35					0	0	1	0	0
PTGER4	5734	broad.mit.edu	37	5	40692464	40692464	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:40692464C>T	ENST00000302472.3	+	3	2475	c.1451C>T	c.(1450-1452)tCa>tTa	p.S484L		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	484					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CTGAACTTATCAGAAAAATGT	0.463000													7	55					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8069693	8069693	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr18:8069693G>A	ENST00000332175.8	+	8	2179	c.1142G>A	c.(1141-1143)cGa>cAa	p.R381Q	PTPRM_ENST00000400060.4_Missense_Mutation_p.R381Q|PTPRM_ENST00000580170.1_Missense_Mutation_p.R381Q|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000444013.1_Missense_Mutation_p.R168Q|PTPRM_ENST00000400053.4_Missense_Mutation_p.R319Q	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	381	Fibronectin type-III 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GATCCCATGCGAGGCCCAAGA	0.413000													5	23					0	0	1	0	0
AP2A1	160	broad.mit.edu	37	19	50306633	50306633	+	Splice_Site	SNP	C	C	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr19:50306633C>A	ENST00000354293.5	+	18	2510	c.2344_splice	c.e18+1	p.Q782_splice	AP2A1_ENST00000359032.5_Splice_Site_p.Q804_splice	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	804					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CCTCCAGACTCATATCCTCTC	0.597000													7	35					0.00198382	0.00204486	1	1	0
HECTD4	283450	broad.mit.edu	37	12	112650351	112650351	+	Silent	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr12:112650351G>C	ENST00000550722.1	-	49	7526	c.7131C>G	c.(7129-7131)ctC>ctG	p.L2377L	HECTD4_ENST00000430131.2_Silent_p.L2101L|HECTD4_ENST00000377560.5_Silent_p.L2351L	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GATATGGTGAGAGGCGCTGCC	0.547000													11	75					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63904479	63904479	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr15:63904479G>A	ENST00000443617.2	-	77	14458	c.14371C>T	c.(14371-14373)Cag>Tag	p.Q4791*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4791	HECT.				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						TGAAATCTCTGAGAAATGTCA	0.428000													5	19					0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152382990	152382990	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:152382990C>G	ENST00000271835.3	-	3	630	c.568G>C	c.(568-570)Gag>Cag	p.E190Q	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	190	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGTCTGCTCTGTCTGCCCA	0.567000													34	259					0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455081	187455081	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr4:187455081A>G	ENST00000307161.5	-	2	1016	c.815T>C	c.(814-816)aTc>aCc	p.I272T	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	272					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	CCACTCTGGGATCCTAGGCAC	0.502000													10	102					0	0	1	0	0
IL10RB	3588	broad.mit.edu	37	21	34640812	34640812	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr21:34640812C>T	ENST00000290200.2	+	2	271	c.163C>T	c.(163-165)Cag>Tag	p.Q55*	AP000295.9_ENST00000433395.2_Silent_p.L182L	NM_000628.4	NP_000619.3			interleukin 10 receptor, beta											endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						TTTCACAGCTCAGTACCTAAG	0.532000													9	46					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	65032504	65032504	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr16:65032504C>T	ENST00000394156.3	-	4	937	c.484G>A	c.(484-486)Gag>Aag	p.E162K	CDH11_ENST00000566827.1_Missense_Mutation_p.E36K|CDH11_ENST00000268603.4_Missense_Mutation_p.E162K			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	162	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TGATAGGTCTCGTGCAGGAAC	0.597000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			10	89					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187530425	187530425	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr4:187530425G>C	ENST00000441802.2	-	16	10327	c.10118C>G	c.(10117-10119)tCa>tGa	p.S3373*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3373	Cadherin 31.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATCTATAATTGAGTAGTGGAT	0.478000										HNSCC(5;0.00058)			9	17					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53062469	53062469	+	Silent	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr8:53062469G>A	ENST00000276480.7	-	16	2558	c.1875C>T	c.(1873-1875)gaC>gaT	p.D625D		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	625						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GTGCAGACTTGTCCAGGATTC	0.408000													7	48					0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55965788	55965788	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr15:55965788G>A	ENST00000389286.4	-	10	1680	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	545	Fibronectin type-III 2.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TGGCCCCGCCGATATTTGGCT	0.498000													12	97					0	0	1	0	0
LETM1	3954	broad.mit.edu	37	4	1825465	1825465	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr4:1825465G>A	ENST00000302787.2	-	8	1534	c.1238C>T	c.(1237-1239)tCg>tTg	p.S413L		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	413	LETM1.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			GATGAGCAGCGATGTGGGGAT	0.632000													5	51					0	0	1	0	0
PTGER2	5732	broad.mit.edu	37	14	52781579	52781579	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr14:52781579G>C	ENST00000245457.5	+	1	467	c.313G>C	c.(313-315)Gag>Cag	p.E105Q	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	105						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	ACTGGCGCCCGAGAGCCGCGC	0.642000													9	57					0	0	1	0	0
WDTC1	23038	broad.mit.edu	37	1	27621045	27621045	+	Silent	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:27621045G>A	ENST00000319394.3	+	9	1333	c.798G>A	c.(796-798)ttG>ttA	p.L266L	WDTC1_ENST00000361771.3_Silent_p.L266L	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	266							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		ACAACCGTTTGAGAGTGCTGG	0.527000													8	37					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32726846	32726846	+	Missense_Mutation	SNP	C	C	T	rs142243133	by1000genomes	TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr6:32726846C>T	ENST00000435145.2	-	3	488	c.427G>A	c.(427-429)Gtc>Atc	p.V143I	HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.V143I|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.V143I			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	143					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ACCGAGCAGACCAGCAGGTTG	0.552000													4	60					0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39695695	39695695	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr8:39695695C>T	ENST00000265708.4	-	1	113	c.10G>A	c.(10-12)Gtc>Atc	p.V4I	ADAM2_ENST00000521880.1_Missense_Mutation_p.V4I|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000347580.4_Missense_Mutation_p.V4I|ADAM2_ENST00000379853.2_Missense_Mutation_p.V4I	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	4					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AGAAACAAGACGCGCCACATG	0.612000													7	42					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139410437	139410437	+	Silent	SNP	C	C	T	rs148331061	by1000genomes	TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr9:139410437C>T	ENST00000277541.6	-	10	1740	c.1665G>A	c.(1663-1665)acG>acA	p.T555T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	555	EGF-like 14; calcium-binding (Potential).				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			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)		CCGCACCTTCCGTGCACACAC	0.632000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			3	42					0	0	1	0	0
NUTM2A	728118	broad.mit.edu	37	10	88994223	88994223	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr10:88994223C>T	ENST00000381707.2	+	7	2778	c.2395C>T	c.(2395-2397)Cag>Tag	p.Q799*	NUTM2A_ENST00000381689.4_Intron|NUTM2A-AS1_ENST00000451940.2_RNA	NM_001099338.1	NP_001092808.1			NUT family member 2A																		GGGAACTCATCAGTTCCCATC	0.592000													3	23					0	0	1	0	0
IQSEC2	23096	broad.mit.edu	37	X	53277968	53277968	+	Silent	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chrX:53277968G>A	ENST00000396435.3	-	6	2594	c.2394C>T	c.(2392-2394)ctC>ctT	p.L798L	IQSEC2_ENST00000375365.2_Silent_p.L593L|IQSEC2_ENST00000375368.5_Silent_p.L788L	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	788	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TCTGCCGGCTGAGGCCTTTCC	0.602000													11	16					0	0	1	0	0
LMF2	91289	broad.mit.edu	37	22	50945072	50945072	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr22:50945072G>C	ENST00000216080.5	-	3	465	c.297C>G	c.(295-297)ttC>ttG	p.F99L	LMF2_ENST00000380796.3_Missense_Mutation_p.F124L|LMF2_ENST00000474879.2_Missense_Mutation_p.F124L|LMF2_ENST00000505981.1_5'UTR			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	124						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTCACCACTGGAAATAAAGGA	0.657000													10	63					0	0	1	0	0
PDK2	5164	broad.mit.edu	37	17	48182772	48182772	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr17:48182772G>A	ENST00000503176.1	+	3	459	c.298G>A	c.(298-300)Gac>Aac	p.D100N	PDK2_ENST00000007708.3_Missense_Mutation_p.D36N	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	100					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						GGAGTTCCTGGACAAGGATCC	0.652000									Autosomal Dominant Polycystic Kidney Disease				3	21					0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134898352	134898352	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr10:134898352G>C	ENST00000607359.1	+	8	1414	c.1414G>C	c.(1414-1416)Gag>Cag	p.E472Q				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	220						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CTGCAGCGGGGAGCTGAGCCT	0.647000													4	35					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215844402	215844402	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:215844402C>G	ENST00000366943.2	-	64	14431	c.14045G>C	c.(14044-14046)aGa>aCa	p.R4682T	USH2A_ENST00000307340.3_Missense_Mutation_p.R4682T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4682	Fibronectin type-III 32.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTGGATTTTCTAGGCTGAGT	0.388000										HNSCC(13;0.011)			12	69					0	0	1	0	0
EIF5A	1984	broad.mit.edu	37	17	7213022	7213022	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr17:7213022C>T	ENST00000336458.8	+	2	469	c.68C>T	c.(67-69)tCa>tTa	p.S23L	EIF5A_ENST00000336452.7_Missense_Mutation_p.S53L|EIF5A_ENST00000572815.1_Missense_Mutation_p.S23L|EIF5A_ENST00000573542.1_Missense_Mutation_p.S23L|EIF5A_ENST00000571955.1_Missense_Mutation_p.S23L|EIF5A_ENST00000419711.2_Missense_Mutation_p.S23L|EIF5A_ENST00000576930.1_Missense_Mutation_p.S23L|EIF5A_ENST00000416016.2_Missense_Mutation_p.S23L	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	23	DOHH-binding.				induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						ATGCAGTGCTCAGCATTACGT	0.522000													10	119					0	0	1	0	0
RSPH3	83861	broad.mit.edu	37	6	159420575	159420575	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr6:159420575G>A	ENST00000367069.2	-	1	644	c.8C>T	c.(7-9)tCa>tTa	p.S3L	RSPH3_ENST00000252655.1_Missense_Mutation_p.S145L|RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000449822.1_Missense_Mutation_p.S3L|RSPH3_ENST00000297262.3_Missense_Mutation_p.S145L			Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	145										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		AGTCAGCGCTGAGGCCATGTC	0.652000													13	80					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187628929	187628929	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr4:187628929C>A	ENST00000441802.2	-	2	2262	c.2053G>T	c.(2053-2055)Gag>Tag	p.E685*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	685					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGGAGCTTCTCTGCCAGCATT	0.438000										HNSCC(5;0.00058)			5	41					0.014758	0.0150576	1	1	0
CACNG6	59285	broad.mit.edu	37	19	54515361	54515361	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr19:54515361G>A	ENST00000252729.2	+	4	1291	c.701G>A	c.(700-702)gGg>gAg	p.G234E	CACNG6_ENST00000346968.2_Missense_Mutation_p.G188E|CACNG6_ENST00000352529.1_Missense_Mutation_p.G163E	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	234						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		CTGCTGTTGGGGGCCGGCTGC	0.706000													14	86					0	0	1	0	0
IQSEC2	23096	broad.mit.edu	37	X	53277994	53277994	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chrX:53277994G>C	ENST00000396435.3	-	6	2568	c.2368C>G	c.(2368-2370)Cac>Gac	p.H790D	IQSEC2_ENST00000375365.2_Missense_Mutation_p.H585D|IQSEC2_ENST00000375368.5_Missense_Mutation_p.H780D	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	780	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						AGGATGAAGTGAGCCACTCCC	0.557000													12	16					0	0	1	0	0
IZUMO2	126123	broad.mit.edu	37	19	50657981	50657981	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr19:50657981C>T	ENST00000293405.3	-	6	499	c.499G>A	c.(499-501)Gac>Aac	p.D167N		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	167						integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						GGTTGCCGGTCGACTGGGGCG	0.632000													15	78					0	0	1	0	0
TAP1	6890	broad.mit.edu	37	6	32813460	32813460	+	Silent	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr6:32813460G>A	ENST00000354258.4	-	11	2484	c.2323C>T	c.(2323-2325)Ctg>Ttg	p.L775L	XXbac-BPG246D15.8_ENST00000453426.1_lincRNA|TAP1_ENST00000425148.2_Silent_p.L514L|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	775	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						CCTCCTTCCAGAAAGAGGATG	0.612000													12	54					0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158397654	158397654	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr2:158397654G>C	ENST00000243349.7	-	7	1533	c.1173C>G	c.(1171-1173)atC>atG	p.I391M	ACVR1C_ENST00000409680.3_Missense_Mutation_p.I341M|ACVR1C_ENST00000348328.5_Missense_Mutation_p.I234M|ACVR1C_ENST00000335450.7_Missense_Mutation_p.I311M	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	391	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						CAACAGAATAGATGTCAGCTC	0.388000													8	44					0	0	1	0	0
GLRA2	2742	broad.mit.edu	37	X	14627288	14627288	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chrX:14627288G>A	ENST00000218075.4	+	7	1421	c.891G>A	c.(889-891)atG>atA	p.M297I	GLRA2_ENST00000443437.2_Missense_Mutation_p.M208I|GLRA2_ENST00000355020.4_Missense_Mutation_p.M297I	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	297					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	TCTTAACGATGACCACCCAGA	0.488000													8	25					0	0	1	0	0
FAM227B	196951	broad.mit.edu	37	15	49867302	49867302	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr15:49867302C>T	ENST00000299338.6	-	8	854	c.551G>A	c.(550-552)aGa>aAa	p.R184K	FAM227B_ENST00000561064.1_Missense_Mutation_p.R184K	NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		TTTAAAAACTCTTTCCTATGG	0.333000													3	12					0	0	1	0	0
TMEM200C	645369	broad.mit.edu	37	18	5891773	5891773	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr18:5891773C>T	ENST00000581347.1	-	3	935	c.290G>A	c.(289-291)cGg>cAg	p.R97Q	RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.R97Q			A6NKL6	T200C_HUMAN	transmembrane protein 200C	97						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						GGTTGGGACCCGGTGGCTGCT	0.687000													8	44					0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661698	4661698	+	Silent	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr11:4661698C>T	ENST00000357605.2	+	1	754	c.678C>T	c.(676-678)ttC>ttT	p.F226F		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTCTCTCTTCATTGGCTTCT	0.498000													14	76					0	0	1	0	0
METTL3	56339	broad.mit.edu	37	14	21969183	21969183	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr14:21969183G>A	ENST00000298717.4	-	5	1139	c.988C>T	c.(988-990)Cac>Tac	p.H330Y	METTL3_ENST00000538267.1_3'UTR	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	330					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		ATTTCATAGTGAACATACTTG	0.443000													4	32					0	0	1	0	0
VIPR2	7434	broad.mit.edu	37	7	158824727	158824727	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr7:158824727G>A	ENST00000262178.2	-	11	1188	c.1003C>T	c.(1003-1005)Ccg>Tcg	p.P335S	VIPR2_ENST00000377633.3_Missense_Mutation_p.P319S|VIPR2_ENST00000402066.1_Missense_Mutation_p.P476S	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	335					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CCGAACAGCGGGATAAGCAGG	0.587000													7	61					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1949979	1949979	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr12:1949979G>A	ENST00000382722.5	-	26	2839	c.2477C>T	c.(2476-2478)gCg>gTg	p.A826V	CACNA2D4_ENST00000586184.1_Missense_Mutation_p.A826V|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.A687V|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.A762V|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.A801V|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A762V	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	826						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GGGTTCACCCGCACTTTCTGG	0.562000													11	55					0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42914582	42914582	+	Silent	SNP	C	C	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr19:42914582C>A	ENST00000244289.4	-	2	1572	c.1296G>T	c.(1294-1296)ctG>ctT	p.L432L	LIPE-AS1_ENST00000597203.1_RNA|LIPE_ENST00000602000.1_Intron|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	432					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TGGTAACCAGCAGGCGCTGGG	0.637000													3	43					0.150653	0.152936	1	1	0
NBN	4683	broad.mit.edu	37	8	90976656	90976656	+	Missense_Mutation	SNP	G	G	C	rs121908973		TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr8:90976656G>C	ENST00000265433.3	-	8	1130	c.976C>G	c.(976-978)Cag>Gag	p.Q326E	NBN_ENST00000409330.1_Missense_Mutation_p.Q244E	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	326					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GGATGGCCCTGAGGATCACAG	0.333000								Homologous recombination					4	35					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24537718	24537718	+	Silent	SNP	A	A	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:24537718A>G	ENST00000264463.4	-	3	804	c.297T>C	c.(295-297)ggT>ggC	p.G99G		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	99	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TAAAAAGAGTACCAGCTCCAT	0.368000										HNSCC(23;0.051)			5	19					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11672474	11672474	+	Silent	SNP	G	G	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr17:11672474G>T	ENST00000262442.3	+	38	7448	c.7380G>T	c.(7378-7380)gtG>gtT	p.V2460V	DNAH9_ENST00000454412.2_Silent_p.V2460V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2460	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCATCCGTGTGTGCTACTTCA	0.617000													20	84					2.39187e-15	2.54374e-15	1	1	0
SLC25A33	84275	broad.mit.edu	37	1	9640095	9640095	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:9640095G>A	ENST00000302692.6	+	6	776	c.566G>A	c.(565-567)gGa>gAa	p.G189E		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	189					transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		TTCTATAGAGGATTAACTGCC	0.418000													4	20					0	0	1	0	0
PPP3CA	5530	broad.mit.edu	37	4	102019535	102019535	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr4:102019535C>T	ENST00000394854.3	-	5	1314	c.631G>A	c.(631-633)Gat>Aat	p.D211N	PPP3CA_ENST00000512215.1_Intron|PPP3CA_ENST00000323055.6_Missense_Mutation_p.D211N|PPP3CA_ENST00000507176.1_Missense_Mutation_p.D113N|PPP3CA_ENST00000523694.2_Missense_Mutation_p.D144N|PPP3CA_ENST00000394853.4_Missense_Mutation_p.D211N|PPP3CA_ENST00000510292.1_5'UTR	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	211	Catalytic.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TTTCTGATATCATCTAAAGTG	0.398000													6	27					0	0	1	0	0
OR4F15	390649	broad.mit.edu	37	15	102358936	102358936	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr15:102358936C>T	ENST00000332238.4	+	1	571	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TGATCTCCCTCGGCTCCTCAG	0.428000													12	75					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370687	240370687	+	Missense_Mutation	SNP	C	C	A	rs145077825		TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:240370687C>A	ENST00000319653.9	+	5	2805	c.2575C>A	c.(2575-2577)Cca>Aca	p.P859T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	859	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCATCTCCACCACCTCTGCC	0.572000													13	130					4.3838e-07	4.58929e-07	1	1	0
TGFBR2	7048	broad.mit.edu	37	3	30732963	30732963	+	Missense_Mutation	SNP	G	G	A	rs121918714		TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr3:30732963G>A	ENST00000295754.5	+	7	1958	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K	TGFBR2_ENST00000359013.4_Missense_Mutation_p.E551K	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	526	Protein kinase.		E -> Q (in esophageal cancer).		activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CCACGACCCAGAGGCCCGTCT	0.602000													9	64					0	0	1	0	0
OR2B2	81697	broad.mit.edu	37	6	27879548	27879548	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr6:27879548G>C	ENST00000303324.2	-	1	626	c.550C>G	c.(550-552)Ctg>Gtg	p.L184V		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						AACTTGAGCAGAGCAGGGACT	0.438000													13	72					0	0	1	0	0
CDR1	1038	broad.mit.edu	37	X	139866462	139866462	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chrX:139866462C>T	ENST00000370532.2	-	1	261	c.70G>A	c.(70-72)Gac>Aac	p.D24N		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	24	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				AAAGGTACGTCTTCCAACAAA	0.428000													16	67					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64644236	64644236	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr3:64644236C>G	ENST00000498707.1	-	4	1253	c.911G>C	c.(910-912)aGa>aCa	p.R304T	ADAMTS9_ENST00000459780.1_Missense_Mutation_p.R304T|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R304T	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	304	Peptidase M12B.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R304I(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGAAACCATTCTGTTGTCTGC	0.368000													7	65					0	0	1	0	0
SNW1	22938	broad.mit.edu	37	14	78202301	78202301	+	Silent	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr14:78202301G>A	ENST00000261531.7	-	7	749	c.687C>T	c.(685-687)gtC>gtT	p.V229V	SNW1_ENST00000554775.1_Silent_p.V67V|SNW1_ENST00000555761.1_Silent_p.V229V|SLIRP_ENST00000557431.1_Intron	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	229	Pro-rich.|SNW.				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GAGAATGCATGACAGGCGCAG	0.388000													4	15					0	0	1	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79854712	79854712	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:79854712G>C	ENST00000338682.3	-	5	1799	c.1127C>G	c.(1126-1128)tCa>tGa	p.S376*		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	376						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		AAGGCCAGCTGAGAGCTGGGA	0.438000													4	31					0	0	1	0	0
C10orf137	26098	broad.mit.edu	37	10	127408404	127408404	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr10:127408404G>C	ENST00000337623.3	+	1	133	c.28G>C	c.(28-30)Gag>Cag	p.E10Q	C10orf137_ENST00000356792.4_Missense_Mutation_p.E10Q	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	10					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GGCCGGAGCCGAGGGTCCGCC	0.697000													5	22					0	0	1	0	0
OR10H2	26538	broad.mit.edu	37	19	15839605	15839605	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr19:15839605T>C	ENST00000305899.3	+	1	772	c.752T>C	c.(751-753)gTg>gCg	p.V251A		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GTGGTCATTGTGCACTATGGC	0.557000													15	88					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139908925	139908925	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:139908925C>G	ENST00000297183.6	+	29	6518	c.6394C>G	c.(6394-6396)Cga>Gga	p.R2132G	ANKHD1_ENST00000544120.1_Missense_Mutation_p.R515G|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.R2132G|ANKHD1_ENST00000360839.2_Missense_Mutation_p.R2132G	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAGCACCTCGAGTTTCTCA	0.443000													26	136					0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233246271	233246271	+	Silent	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr2:233246271C>T	ENST00000392027.2	+	11	1643	c.1374C>T	c.(1372-1374)gaC>gaT	p.D458D	AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	458						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CAGGCGAGGACGTGGCGGTGT	0.672000													3	26					0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101629873	101629873	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr8:101629873G>C	ENST00000311812.2	-	5	557	c.407C>G	c.(406-408)tCa>tGa	p.S136*	SNX31_ENST00000428383.2_Nonsense_Mutation_p.S37*	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	136					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			AGCAGTGTCTGATGTTATAAT	0.388000													6	40					0	0	1	0	0
FBXL14	144699	broad.mit.edu	37	12	1702577	1702577	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr12:1702577G>A	ENST00000339235.3	-	1	754	c.656C>T	c.(655-657)tCt>tTt	p.S219F	WNT5B_ENST00000537031.1_Intron	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	219						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			GTGCTTTAGAGAAAGATCTGT	0.652000													8	35					0	0	1	0	0
OR2B2	81697	broad.mit.edu	37	6	27879379	27879379	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr6:27879379G>A	ENST00000303324.2	-	1	795	c.719C>T	c.(718-720)aCa>aTa	p.T240I		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						GGAGCCACATGTCCCAAATGC	0.458000													8	55					0	0	1	0	0
TTC14	151613	broad.mit.edu	37	3	180327971	180327971	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr3:180327971G>C	ENST00000296015.4	+	12	2086	c.1954G>C	c.(1954-1956)Gag>Cag	p.E652Q	TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000382584.4_Intron	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	652							RNA binding	p.E652Q(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AAAGGATATAGAGGGAAGAAA	0.393000													4	22					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28447508	28447508	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr15:28447508C>T	ENST00000261609.7	-	46	7573	c.7465G>A	c.(7465-7467)Gca>Aca	p.A2489T		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2489					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAGCTGGATGCATTCCCGGAA	0.557000													4	55					0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10447351	10447351	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr4:10447351C>T	ENST00000326756.3	-	3	1040	c.602G>A	c.(601-603)aGa>aAa	p.R201K		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						ATAATCATTTCTAATAGCACC	0.428000													12	128					0	0	1	0	0
SLC2A12	154091	broad.mit.edu	37	6	134350659	134350659	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr6:134350659C>T	ENST00000275230.5	-	2	459	c.304G>A	c.(304-306)Gac>Aac	p.D102N		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	102						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		CCATATCTGTCTATCAGGACC	0.498000													8	42					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39797963	39797963	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:39797963G>C	ENST00000564288.1	+	37	6480	c.5703G>C	c.(5701-5703)aaG>aaC	p.K1901N	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.K341N|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.K1906N|MACF1_ENST00000567887.1_Missense_Mutation_p.K1938N|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1906					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTCCTGGAAGAAAGCAATAG	0.403000													4	47					0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40854100	40854100	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr18:40854100C>A	ENST00000255224.3	-	2	662	c.294G>T	c.(292-294)aaG>aaT	p.K98N	SYT4_ENST00000590752.1_Missense_Mutation_p.K80N|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	98						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TGAGATCTCTCTTTTCAAGAT	0.393000													5	39					0.27861	0.280003	1	1	0
ESRP2	80004	broad.mit.edu	37	16	68269632	68269632	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr16:68269632C>T	ENST00000473183.2	-	2	770	c.232G>A	c.(232-234)Gag>Aag	p.E78K	ESRP2_ENST00000565858.1_Missense_Mutation_p.E78K			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	78					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						GCGGCCGCCTCGGCACGAACC	0.716000													5	28					0	0	1	0	0
GRWD1	83743	broad.mit.edu	37	19	48953936	48953936	+	Silent	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr19:48953936C>T	ENST00000253237.5	+	5	929	c.696C>T	c.(694-696)acC>acT	p.T232T		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	232						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		GCCTGCTGACCGGTGACTGTC	0.652000													10	63					0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35444710	35444710	+	Splice_Site	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr20:35444710C>T	ENST00000237536.4	-	5	1476	c.1134_splice	c.e5-1	p.E379_splice	SOGA1_ENST00000357779.3_Splice_Site_p.E141_splice|SOGA1_ENST00000279034.5_Splice_Site_p.E141_splice	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	141										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GCACTGTCCTCCTGGGACCAC	0.537000													9	51					0	0	1	0	0
VLDLR	7436	broad.mit.edu	37	9	2643851	2643851	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr9:2643851G>C	ENST00000382100.2	+	7	1314	c.958G>C	c.(958-960)Ggc>Cgc	p.G320R	VLDLR_ENST00000382099.2_Missense_Mutation_p.G320R	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	320	LDL-receptor class A 8.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TCAGTGCTTGGGCCCTGGAAA	0.458000													13	78					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85400425	85400425	+	Missense_Mutation	SNP	G	G	A	rs116079740	by1000genomes	TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr15:85400425G>A	ENST00000258888.5	+	6	3229	c.3062G>A	c.(3061-3063)cGa>cAa	p.R1021Q		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1021					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GAGAGATGCCGAGGGCCACAG	0.647000													10	47					0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39202662	39202662	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:39202662C>T	ENST00000351578.6	-	2	591	c.401G>A	c.(400-402)gGa>gAa	p.G134E	FYB_ENST00000540520.1_Missense_Mutation_p.G144E|FYB_ENST00000515010.1_Missense_Mutation_p.G134E|FYB_ENST00000505428.1_Missense_Mutation_p.G134E|FYB_ENST00000512982.1_Missense_Mutation_p.G134E	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	134					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGCTTGTTTCCAGGAGGCCA	0.498000													7	49					0	0	1	0	0
IL22	50616	broad.mit.edu	37	12	68646582	68646582	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr12:68646582C>T	ENST00000538666.1	-	3	284	c.214G>A	c.(214-216)Gtt>Att	p.V72I	IL22_ENST00000328087.4_Missense_Mutation_p.V72I			Q9GZX6	IL22_HUMAN	interleukin 22	72					acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		ATGAGACGAACGTCTGTGTTG	0.473000													7	59					0	0	1	0	0
SLC12A2	6558	broad.mit.edu	37	5	127507429	127507429	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:127507429C>T	ENST00000262461.2	+	19	2983	c.2794C>T	c.(2794-2796)Caa>Taa	p.Q932*	SLC12A2_ENST00000343225.4_Nonsense_Mutation_p.Q932*	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	932					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATCTCATCTTCAAGGACAAGG	0.289000													4	32					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101098482	101098482	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr6:101098482G>A	ENST00000369162.2	-	20	3528	c.3184C>T	c.(3184-3186)Caa>Taa	p.Q1062*		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1062	SEC63 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		ATATAAGTTTGAAGTAAGATG	0.368000													6	21					0	0	1	0	0
DDX58	23586	broad.mit.edu	37	9	32472994	32472994	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr9:32472994C>T	ENST00000379882.1	-	13	2015	c.1858G>A	c.(1858-1860)Ggc>Agc	p.G620S	DDX58_ENST00000545044.1_Missense_Mutation_p.G462S|DDX58_ENST00000379868.1_Missense_Mutation_p.G462S|DDX58_ENST00000542096.1_Missense_Mutation_p.G594S|DDX58_ENST00000379883.2_Missense_Mutation_p.G665S			O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	665	Helicase C-terminal.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TTTGTTTTGCCACGTCCAGTC	0.318000													4	25					0	0	1	0	0
HARBI1	283254	broad.mit.edu	37	11	46637290	46637290	+	Silent	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr11:46637290C>T	ENST00000326737.3	-	2	745	c.498G>A	c.(496-498)gtG>gtA	p.V166V		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	166						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						CTTTTCGGTTCACATAGGAGA	0.517000													31	157					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229089	140229089	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:140229089C>T	ENST00000378122.3	+	1	1733	c.1009C>T	c.(1009-1011)Ctt>Ttt	p.L337F	PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.L337F|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_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)			TTGTACACTTCTTGTGGAAGT	0.463000													9	69					0	0	1	0	0
TMEM167A	153339	broad.mit.edu	37	5	82357701	82357701	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:82357701C>T	ENST00000502346.1	-	3	315	c.143G>A	c.(142-144)aGa>aAa	p.R48K	TMEM167A_ENST00000511450.1_5'UTR	NM_174909.4	NP_777569.1	Q8TBQ9	KISHA_HUMAN	transmembrane protein 167A	48						Golgi membrane|integral to membrane				large_intestine(1)|lung(1)	2						CTTACCAATTCTGGCACACTT	0.299000													3	13					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161527723	161527723	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr6:161527723G>C	ENST00000392142.4	+	20	4182	c.4034G>C	c.(4033-4035)aGa>aCa	p.R1345T	MAP3K4_ENST00000366919.2_Missense_Mutation_p.R1295T|MAP3K4_ENST00000348824.7_Missense_Mutation_p.R1291T|MAP3K4_ENST00000366920.2_Missense_Mutation_p.R1341T	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1345	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AAATGGCAAAGAGGAAACAAA	0.373000													3	24					0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121528317	121528317	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr8:121528317C>T	ENST00000305949.1	+	18	2177	c.2132C>T	c.(2131-2133)tCg>tTg	p.S711L		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	711	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CCTGTAGTTTCGTCAGATCCT	0.428000													3	50					0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17544352	17544352	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr11:17544352T>C	ENST00000005226.7	-	12	997	c.998A>G	c.(997-999)gAg>gGg	p.E333G	USH1C_ENST00000527720.1_Missense_Mutation_p.E302G|USH1C_ENST00000527020.1_Missense_Mutation_p.E314G|USH1C_ENST00000318024.4_Missense_Mutation_p.E333G	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	333					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CTCCTGCTGCTCCTGGAGGAT	0.677000													9	56					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7580249	7580249	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr6:7580249C>T	ENST00000379802.3	+	23	4167	c.3826C>T	c.(3826-3828)Cag>Tag	p.Q1276*	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1276	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAACGCCCTTCAGCAAAAGGC	0.512000													13	88					0	0	1	0	0
TRIM33	51592	broad.mit.edu	37	1	114968304	114968304	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:114968304G>A	ENST00000358465.2	-	9	1545	c.1462C>T	c.(1462-1464)Cct>Tct	p.P488S	TRIM33_ENST00000450349.2_Missense_Mutation_p.P96S|TRIM33_ENST00000369543.2_Missense_Mutation_p.P488S	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	488					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|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)		ACAACATTAGGAGTATAACCA	0.373000			T	RET	papillary thyroid								11	73					0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587580	55587580	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr11:55587580G>T	ENST00000333976.4	+	1	495	c.475G>T	c.(475-477)Gaa>Taa	p.E159*		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				ATGTTCCTTGGAACTGACGTG	0.468000													17	93					1.99824e-07	2.10286e-07	1	1	0
FAT2	2196	broad.mit.edu	37	5	150921911	150921911	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:150921911G>A	ENST00000261800.5	-	9	8789	c.8777C>T	c.(8776-8778)gCg>gTg	p.A2926V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2926	Cadherin 26.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTTAGAGTCGCCACCAGTTC	0.507000													13	105					0	0	1	0	0
AGO1	26523	broad.mit.edu	37	1	36383221	36383221	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:36383221C>T	ENST00000373204.4	+	16	2269	c.2056C>T	c.(2056-2058)Cgt>Tgt	p.R686C	AGO1_ENST00000373206.1_Missense_Mutation_p.R611C	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		ACTGGCCATTCGTGATGCCTG	0.458000													14	112					0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764924	138764924	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr7:138764924G>A	ENST00000242351.5	-	4	1079	c.763C>T	c.(763-765)Cag>Tag	p.Q255*	ZC3HAV1_ENST00000471652.1_Nonsense_Mutation_p.Q255*|ZC3HAV1_ENST00000464606.1_Nonsense_Mutation_p.Q255*	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	255					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TGGCTGCCCTGAAAGAACCGA	0.483000													12	162					0	0	1	0	0
NACAP1	83955	broad.mit.edu	37	8	102381306	102381306	+	RNA	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr8:102381306G>A	ENST00000419462.1	+	0	718					NR_002182.1																						GGTAGCAGCTGAAATTGATGA	0.483000													10	63					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26535778	26535778	+	Silent	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr13:26535778G>A	ENST00000381655.2	+	34	3391	c.3249G>A	c.(3247-3249)ttG>ttA	p.L1083L	ATP8A2_ENST00000255283.8_Silent_p.L1018L	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	1043					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CTGCCTGTTTGATTGAAGATG	0.468000													9	71					0	0	1	0	0
PSMC3IP	29893	broad.mit.edu	37	17	40725341	40725341	+	Silent	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr17:40725341C>T	ENST00000393795.3	-	6	633	c.525G>A	c.(523-525)aaG>aaA	p.K175K	PSMC3IP_ENST00000253789.5_Silent_p.K163K|PSMC3IP_ENST00000587209.1_Silent_p.K112K|PSMC3IP_ENST00000590760.1_Silent_p.K50K	NM_001256015.1|NM_001256016.1|NM_016556.3	NP_001242944.1|NP_001242945.1|NP_057640.1	Q9P2W1	HOP2_HUMAN	PSMC3 interacting protein	175	DNA binding (By similarity).				DNA recombination|meiosis	nucleus	DNA binding			endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(2)	7		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)		BRCA - Breast invasive adenocarcinoma(366;0.13)		TCCTCTTCCTCTTCCTCCACT	0.517000													13	79					0	0	1	0	0
CD226	10666	broad.mit.edu	37	18	67534613	67534613	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr18:67534613C>G	ENST00000280200.4	-	6	1133	c.865G>C	c.(865-867)Gag>Cag	p.E289Q	CD226_ENST00000581982.1_Missense_Mutation_p.E134Q|CD226_ENST00000582621.1_Missense_Mutation_p.E289Q|CD226_ENST00000577287.1_Missense_Mutation_p.E134Q	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	289					cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				TCCCAGGACTCTGTAAATAGA	0.333000													5	67					0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116067583	116067583	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr10:116067583C>G	ENST00000369271.3	-	10	1353	c.1053G>C	c.(1051-1053)gaG>gaC	p.E351D	AFAP1L2_ENST00000545353.1_Missense_Mutation_p.E404D|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.E351D	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	351					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CGAGGGACCTCTCCACAGGCT	0.527000													4	32					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155203387	155203387	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr3:155203387C>T	ENST00000460012.1	-	22	2999	c.2642G>A	c.(2641-2643)cGa>cAa	p.R881Q	PLCH1_ENST00000494598.1_Missense_Mutation_p.R899Q|PLCH1_ENST00000447496.2_Missense_Mutation_p.R919Q|PLCH1_ENST00000414191.1_Missense_Mutation_p.R881Q|PLCH1_ENST00000340059.7_Missense_Mutation_p.R919Q|PLCH1_ENST00000334686.6_Missense_Mutation_p.R881Q			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	919					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGCTGTGCGTCGCAGAATTCT	0.473000													13	44					0	0	1	0	0
RNF180	285671	broad.mit.edu	37	5	63510034	63510034	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:63510034G>T	ENST00000389100.4	+	4	953	c.881G>T	c.(880-882)aGa>aTa	p.R294I	RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Missense_Mutation_p.R294I	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	294	Interaction with ZIC2 (By similarity).					integral to membrane|nuclear envelope	zinc ion binding			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		CTGCTGCAAAGATTTTCAGTG	0.423000													6	53					2.7689e-08	2.9292e-08	1	1	0
UBR2	23304	broad.mit.edu	37	6	42583792	42583792	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr6:42583792G>C	ENST00000372901.1	+	10	1404	c.1146G>C	c.(1144-1146)ttG>ttC	p.L382F	UBR2_ENST00000372903.2_Missense_Mutation_p.L382F|UBR2_ENST00000372899.1_Missense_Mutation_p.L382F			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	382					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)			TTATGGATTTGAAATACAAGA	0.333000													3	42					0	0	1	0	0
GNE	10020	broad.mit.edu	37	9	36234070	36234070	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr9:36234070G>A	ENST00000396594.3	-	5	1033	c.922C>T	c.(922-924)Cgt>Tgt	p.R308C	GNE_ENST00000447283.2_Missense_Mutation_p.R277C|GNE_ENST00000543356.2_Missense_Mutation_p.R272C|GNE_ENST00000377902.5_Missense_Mutation_p.R277C|GNE_ENST00000539815.1_Missense_Mutation_p.R277C|GNE_ENST00000539208.1_Missense_Mutation_p.R167C	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	277					cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			TTAACTGCACGAAAGTTGGGA	0.463000													14	84					0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22051684	22051684	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr8:22051684G>A	ENST00000306385.5	+	10	1964	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K	BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397814.3_Missense_Mutation_p.E432K|BMP1_ENST00000397816.3_Missense_Mutation_p.E432K|BMP1_ENST00000306349.8_Missense_Mutation_p.E432K	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	432	CUB 1.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TGCAGTCTACGAAGGTACTGA	0.572000													8	60					0	0	1	0	0
BTBD8	284697	broad.mit.edu	37	1	92568216	92568216	+	Silent	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:92568216C>T	ENST00000370382.3	+	3	801	c.534C>T	c.(532-534)ttC>ttT	p.F178F	BTBD8_ENST00000342818.3_Silent_p.F178F|BTBD8_ENST00000540648.1_Silent_p.F178F			Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	178						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		ATGATGATTTCATTTCCAATG	0.323000													4	16					0	0	1	0	0
TNPO2	30000	broad.mit.edu	37	19	12812644	12812644	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr19:12812644G>C	ENST00000425528.1	-	23	2790	c.2433C>G	c.(2431-2433)atC>atG	p.I811M	TNPO2_ENST00000441499.1_Missense_Mutation_p.I801M|TNPO2_ENST00000588216.1_Missense_Mutation_p.I801M|TNPO2_ENST00000356861.5_Missense_Mutation_p.I801M|TNPO2_ENST00000450764.2_Missense_Mutation_p.I801M|TNPO2_ENST00000592287.1_Missense_Mutation_p.I811M			O14787	TNPO2_HUMAN	transportin 2	811					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGTTGTCCCTGATGTTCCTGA	0.627000													7	64					0	0	1	0	0
MYC	4609	broad.mit.edu	37	8	128750924	128750924	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr8:128750924C>G	ENST00000377970.2	+	2	971	c.461C>G	c.(460-462)tCg>tGg	p.S154W	MYC_ENST00000524013.1_Missense_Mutation_p.S153W|MYC_ENST00000259523.6_Missense_Mutation_p.S139W	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	139					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		AGCGGCTTCTCGGCCGCCGCC	0.622000		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	34					0	0	1	0	0
HIBCH	26275	broad.mit.edu	37	2	191109624	191109624	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr2:191109624C>T	ENST00000392332.3	-	11	1019	c.880G>A	c.(880-882)Gag>Aag	p.E294K	HIBCH_ENST00000410045.1_Missense_Mutation_p.E71K|HIBCH_ENST00000359678.5_Missense_Mutation_p.E294K			Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	294					branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			TTCAATTGCTCTAGGGCAAAA	0.398000													11	39					0	0	1	0	0
LIG3	3980	broad.mit.edu	37	17	33331362	33331362	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr17:33331362G>A	ENST00000378526.4	+	20	3000	c.2867G>A	c.(2866-2868)aGa>aAa	p.R956K		NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	956	BRCT.				base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	AGCCGTCTCAGACGCTACTTT	0.577000								Other BER factors					6	72					0	0	1	0	0
HMBOX1	79618	broad.mit.edu	37	8	28876293	28876293	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr8:28876293G>A	ENST00000397358.3	+	7	1418	c.714G>A	c.(712-714)atG>atA	p.M238I	HMBOX1_ENST00000444075.1_Missense_Mutation_p.M238I|HMBOX1_ENST00000519047.1_Missense_Mutation_p.M238I|HMBOX1_ENST00000558662.1_Missense_Mutation_p.M238I|HMBOX1_ENST00000524238.1_Missense_Mutation_p.M238I|HMBOX1_ENST00000523613.1_Missense_Mutation_p.M238I|HMBOX1_ENST00000403668.2_Missense_Mutation_p.M238I|HMBOX1_ENST00000355231.5_Missense_Mutation_p.M238I|HMBOX1_ENST00000287701.10_Missense_Mutation_p.M238I	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	238					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.M238I(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		CACTAAGTATGAGACCAGCCC	0.453000													3	48					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2088645	2088645	+	Splice_Site	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr8:2088645G>A	ENST00000262113.4	+	33	3941		c.e33-1		MYOM2_ENST00000523438.1_Splice_Site	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2						muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTCTTTTCAAGAGATGCTAAG	0.483000													8	32					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29451853	29451853	+	Silent	SNP	A	A	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr2:29451853A>G	ENST00000389048.3	-	16	3618	c.2712T>C	c.(2710-2712)caT>caC	p.H904H	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	904	Gly-rich.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GGGGGCAGGAATGTCCTCCGG	0.607000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				3	27					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44075077	44075077	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:44075077C>G	ENST00000359947.4	+	22	4221	c.3881C>G	c.(3880-3882)tCt>tGt	p.S1294C	PTPRF_ENST00000372414.3_Missense_Mutation_p.S1294C|PTPRF_ENST00000372413.3_Missense_Mutation_p.S1285C|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.S642C|PTPRF_ENST00000438120.1_Missense_Mutation_p.S1285C	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1294					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCTCCGTCCTCTAAGGATGAG	0.587000													9	20					0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183079669	183079669	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:183079669G>C	ENST00000258341.4	+	4	1158	c.901G>C	c.(901-903)Gat>Cat	p.D301H		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	301	Laminin EGF-like 1.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAACGAATTTGATAAGCTGGT	0.438000													12	101					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139909058	139909058	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:139909058C>T	ENST00000297183.6	+	29	6651	c.6527C>T	c.(6526-6528)gCa>gTa	p.A2176V	ANKHD1_ENST00000544120.1_Missense_Mutation_p.A559V|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.A2176V|ANKHD1_ENST00000360839.2_Missense_Mutation_p.A2176V	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCAGCTGCAGTGCAGCTT	0.443000													10	93					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202136252	202136252	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr2:202136252C>T	ENST00000358485.4	+	3	692	c.496C>T	c.(496-498)Cag>Tag	p.Q166*	CASP8_ENST00000392266.3_Nonsense_Mutation_p.Q107*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q107*|CASP8_ENST00000392258.3_Nonsense_Mutation_p.Q107*|CASP8_ENST00000392259.2_Nonsense_Mutation_p.Q107*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q107*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q139*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.Q107*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	107	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CATGCTCTATCAGATTTCAGA	0.393000										HNSCC(4;0.00038)			12	22					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104499919	104499919	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr9:104499919C>T	ENST00000361820.3	-	1	943	c.343G>A	c.(343-345)Gag>Aag	p.E115K		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	115					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CTGGCGCCCTCCCCGGGCTTA	0.726000													6	32					0	0	1	0	0
NPR3	4883	broad.mit.edu	37	5	32724837	32724837	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:32724837G>A	ENST00000265074.8	+	2	1146	c.803G>A	c.(802-804)cGg>cAg	p.R268Q	NPR3_ENST00000415685.2_Missense_Mutation_p.R52Q|NPR3_ENST00000434067.2_Missense_Mutation_p.R52Q|NPR3_ENST00000415167.2_Missense_Mutation_p.R268Q	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	268					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GACACCATCCGGAGCATCATG	0.532000													5	51					0	0	1	0	0
CCNL2	81669	broad.mit.edu	37	1	1322615	1322615	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:1322615C>T	ENST00000400809.3	-	11	1564	c.1559G>A	c.(1558-1560)aGg>aAg	p.R520K	CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Missense_Mutation_p.R298K	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	520					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CCCGCCTCACCTCCGATGCCT	0.642000													9	81					0	0	1	0	0
RUFY3	22902	broad.mit.edu	37	4	71660571	71660571	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr4:71660571G>A	ENST00000381006.3	+	14	2096	c.1517G>A	c.(1516-1518)aGc>aAc	p.S506N	RUFY3_ENST00000502653.1_Missense_Mutation_p.S453N	NM_001037442.2	NP_001032519.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	341					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			AACGACAGGAGCATCCCAGGA	0.373000													4	30					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123419831	123419831	+	Silent	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr3:123419831G>A	ENST00000360772.3	-	19	2862	c.2484C>T	c.(2482-2484)tgC>tgT	p.C828C	MYLK_ENST00000360304.3_Silent_p.C828C|MYLK_ENST00000359169.1_Silent_p.C828C|MYLK_ENST00000346322.5_Silent_p.C759C|MYLK_ENST00000475616.1_Silent_p.C828C			Q15746	MYLK_HUMAN	myosin light chain kinase	828					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGAGGTCCTCGCAGCTGGCAG	0.587000													10	59					0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72359628	72359628	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr2:72359628C>T	ENST00000001146.2	-	6	1470	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K	CYP26B1_ENST00000412253.1_Missense_Mutation_p.E232K|CYP26B1_ENST00000546307.1_Missense_Mutation_p.E348K	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	423					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						TCCTTGTCCTCGCTCCGCGCC	0.622000													10	55					0	0	1	0	0
ASL	435	broad.mit.edu	37	7	65557846	65557846	+	Missense_Mutation	SNP	G	G	A	rs139410488		TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr7:65557846G>A	ENST00000304874.9	+	17	1444	c.1342G>A	c.(1342-1344)Gtc>Atc	p.V448I	ASL_ENST00000395331.3_Missense_Mutation_p.V428I|ASL_ENST00000395332.3_Missense_Mutation_p.V448I|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000380839.4_Missense_Mutation_p.V422I|AC068533.7_ENST00000450043.1_Intron	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	448					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	GCGCTCCAGCGTCGACTGGCA	0.672000													5	66					0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72296611	72296611	+	Silent	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr11:72296611G>C	ENST00000334456.5	-	15	1454	c.1209C>G	c.(1207-1209)ctC>ctG	p.L403L	PDE2A_ENST00000376450.3_Silent_p.L147L|PDE2A_ENST00000540345.1_Silent_p.L394L|PDE2A_ENST00000444035.2_Silent_p.L394L|PDE2A_ENST00000544570.1_Silent_p.L396L|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000418754.2_Silent_p.L288L	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	403					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	GGTGGGTGAAGAGGTTCTTTG	0.592000											OREG0021196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	16					0	0	1	0	0
TRDMT1	1787	broad.mit.edu	37	10	17199505	17199505	+	Silent	SNP	C	C	T	rs145913291		TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr10:17199505C>T	ENST00000377799.3	-	8	869	c.822G>A	c.(820-822)ctG>ctA	p.L274L	TRDMT1_ENST00000377766.5_3'UTR|TRDMT1_ENST00000351358.4_Silent_p.L228L|TRDMT1_ENST00000412821.3_Silent_p.L250L|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000488990.1_Silent_p.L151L|TRDMT1_ENST00000457442.2_Silent_p.L193L|TRDMT1_ENST00000452380.2_5'UTR	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	274					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						GAGCATATCGCAGCAATGACT	0.383000													3	34					0	0	1	0	0
MARCH6	10299	broad.mit.edu	37	5	10411555	10411555	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:10411555G>A	ENST00000274140.5	+	19	1934	c.1802G>A	c.(1801-1803)gGa>gAa	p.G601E	MARCH6_ENST00000503788.1_Missense_Mutation_p.G496E|MARCH6_ENST00000449913.2_Missense_Mutation_p.G553E|MARCH6_ENST00000510792.1_Missense_Mutation_p.G299E	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	601					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CCTGTGGTGGGAGAAGGCCTT	0.463000													6	48					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256961	140256961	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:140256961G>A	ENST00000398631.2	+	1	1904	c.1904G>A	c.(1903-1905)cGc>cAc	p.R635H	PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACGACACGCATCCTGGAT	0.677000													11	83					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369739	86369739	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr13:86369739G>C	ENST00000400286.2	-	2	1503	c.905C>G	c.(904-906)tCc>tGc	p.S302C		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	302						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTTTAGAATGGACGTGGTCTT	0.428000													7	46					0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65851492	65851492	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:65851492T>C	ENST00000395325.3	+	7	884	c.727T>C	c.(727-729)Ttt>Ctt	p.F243L	DNAJC6_ENST00000263441.7_Missense_Mutation_p.F230L|DNAJC6_ENST00000371069.4_Missense_Mutation_p.F300L|DNAJC6_ENST00000498720.1_3'UTR	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	243	C2 tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TCCAATACCCTTTTTCAACAA	0.438000													4	47					0	0	1	0	0
TTC14	151613	broad.mit.edu	37	3	180328270	180328270	+	Silent	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr3:180328270G>A	ENST00000296015.4	+	12	2385	c.2253G>A	c.(2251-2253)ctG>ctA	p.L751L	TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000382584.4_Intron	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	751							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AGAATTTACTGAATATATTTA	0.323000													4	25					0	0	1	0	0
WFS1	7466	broad.mit.edu	37	4	6303712	6303712	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr4:6303712G>C	ENST00000226760.1	+	8	2360	c.2190G>C	c.(2188-2190)tgG>tgC	p.W730C	WFS1_ENST00000503569.1_Missense_Mutation_p.W730C	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	730					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TCGGCGACTGGATGCGCTGCC	0.642000													6	29					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	84027938	84027938	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr11:84027938G>A	ENST00000280241.8	-	1	250	c.251C>T	c.(250-252)aCg>aTg	p.T84M	DLG2_ENST00000376104.2_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000398301.2_Missense_Mutation_p.T84M|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CTTGGTGCTCGTCTTGTGGGG	0.582000													14	54					0	0	1	0	0
JTB	10899	broad.mit.edu	37	1	153947166	153947166	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:153947166C>T	ENST00000271843.4	-	5	865	c.430G>A	c.(430-432)Gag>Aag	p.E144K	JTB_ENST00000356648.1_Missense_Mutation_p.E115K|JTB_ENST00000368589.1_Missense_Mutation_p.E115K	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	jumping translocation breakpoint	144					apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TATATGGACTCGATTTGCTTC	0.483000													13	92					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			5	23					0	0	1	0	0
OR13C8	138802	broad.mit.edu	37	9	107331475	107331475	+	Silent	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr9:107331475G>C	ENST00000335040.1	+	1	27	c.27G>C	c.(25-27)tcG>tcC	p.S9S		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						ATTCCACGTCGACAGAATTTT	0.418000													11	71					0	0	1	0	0
TDRD3	81550	broad.mit.edu	37	13	61059979	61059979	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr13:61059979G>A	ENST00000196169.3	+	7	1123	c.335G>A	c.(334-336)aGa>aAa	p.R112K	TDRD3_ENST00000535286.1_Missense_Mutation_p.R205K|TDRD3_ENST00000377881.2_Missense_Mutation_p.R112K|TDRD3_ENST00000377894.2_Missense_Mutation_p.R112K	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	112					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		CTTGATCGAAGAAAAACATTG	0.363000													3	11					0	0	1	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21747360	21747360	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr18:21747360C>T	ENST00000319481.3	-	25	2674	c.2468G>A	c.(2467-2469)aGt>aAt	p.S823N	OSBPL1A_ENST00000399443.3_Missense_Mutation_p.S310N|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.S441N	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	823					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					AATGAATACACTTTCAGAATC	0.458000													9	62					0	0	1	0	0
FAF1	11124	broad.mit.edu	37	1	51050456	51050456	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:51050456C>T	ENST00000396153.2	-	10	1319	c.868G>A	c.(868-870)Gat>Aat	p.D290N	FAF1_ENST00000371778.4_Missense_Mutation_p.D290N|FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000545823.1_Missense_Mutation_p.D48N	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	290					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CCATCGCTATCACTAACCATA	0.363000													5	24					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87072993	87072993	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr7:87072993G>A	ENST00000265723.4	-	11	1327	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*	ABCB4_ENST00000359206.3_Nonsense_Mutation_p.R406*|ABCB4_ENST00000358400.3_Nonsense_Mutation_p.R406*|ABCB4_ENST00000453593.1_Nonsense_Mutation_p.R406*|ABCB4_ENST00000545634.1_Nonsense_Mutation_p.R406*	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	406	ABC transporter 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					ACGTTAGCTCGAGAAGGGTAA	0.333000													3	18					0	0	1	0	0
GAPDH	2597	broad.mit.edu	37	12	6646891	6646891	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr12:6646891G>A	ENST00000229239.5	+	8	1333	c.667G>A	c.(667-669)Gag>Aag	p.E223K	GAPDH_ENST00000396861.1_Missense_Mutation_p.E223K|GAPDH_ENST00000396858.1_Missense_Mutation_p.E181K|GAPDH_ENST00000396856.1_Missense_Mutation_p.E148K|GAPDH_ENST00000396859.1_Missense_Mutation_p.E223K	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	223					gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7					NADH(DB00157)	GGTCATCCCTGAGCTGAACGG	0.607000											OREG0021628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	44					0	0	1	0	0
CHID1	66005	broad.mit.edu	37	11	870490	870490	+	Splice_Site	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr11:870490C>T	ENST00000526714.1	-	9	905		c.e9-1		CHID1_ENST00000454838.2_Silent_p.Q348Q|CHID1_ENST00000449825.1_Silent_p.Q323Q|CHID1_ENST00000323578.8_Silent_p.Q323Q|CHID1_ENST00000528581.1_Silent_p.Q348Q|CHID1_ENST00000429789.2_Silent_p.Q292Q|CHID1_ENST00000323541.7_Silent_p.Q353Q|CHID1_ENST00000336845.5_Silent_p.Q348Q|CHID1_ENST00000436108.2_Silent_p.Q323Q			Q9BWS9	CHID1_HUMAN	chitinase domain containing 1						chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		CCTTCAGTGTCTGGATGTACC	0.607000													4	10					0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43803206	43803206	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr21:43803206G>A	ENST00000291532.3	-	8	1673	c.718C>T	c.(718-720)Cac>Tac	p.H240Y	TMPRSS3_ENST00000380399.1_Missense_Mutation_p.H324Y|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.H240Y|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.H238Y|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.H240Y|TMPRSS3_ENST00000474596.1_5'UTR	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	240	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CCGCACAGGTGGTAGCCCTGG	0.587000													8	43					0	0	1	0	0
LINC00461	645323	broad.mit.edu	37	5	87962731	87962731	+	RNA	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:87962731G>C	ENST00000384838.1	-	0	26					NR_030741.1																						CATACAGCTAGATAACCAAAG	0.483000													3	1					0	0	1	0	0
GOLGA2	2801	broad.mit.edu	37	9	131021583	131021583	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr9:131021583G>A	ENST00000421699.2	-	19	1891	c.1879C>T	c.(1879-1881)Cag>Tag	p.Q627*		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	627						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						GTCAGCTGCTGATAGGCGGCC	0.587000													3	25					0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100086246	100086246	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr7:100086246G>A	ENST00000423930.1	+	4	1061	c.902G>A	c.(901-903)cGc>cAc	p.R301H	NYAP1_ENST00000300179.2_Missense_Mutation_p.R301H|NYAP1_ENST00000454988.1_Missense_Mutation_p.R244H			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	301	Pro-rich.																CATGCCCACCGCCGCCCAGCT	0.692000													11	88					0	0	1	0	0
VPS4A	27183	broad.mit.edu	37	16	69353412	69353412	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr16:69353412G>T	ENST00000254950.11	+	6	742	c.586G>T	c.(586-588)Gat>Tat	p.D196Y	RP11-343C2.3_ENST00000570054.2_Missense_Mutation_p.D220Y|VPS4A_ENST00000569775.1_Intron	NM_013245.2	NP_037377.1	Q9UN37	VPS4A_HUMAN	vacuolar protein sorting 4 homolog A (S. cerevisiae)	196					cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				GTCCTCCTCAGATCTGATGTC	0.602000													6	35					3.59834e-05	3.72817e-05	1	1	0
SUPT16H	11198	broad.mit.edu	37	14	21822620	21822620	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr14:21822620C>G	ENST00000216297.2	-	23	3078	c.2740G>C	c.(2740-2742)Gag>Cag	p.E914Q		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	914					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AAGAAGCCCTCAGGGTCATCA	0.488000													7	42					0	0	1	0	0
CHID1	66005	broad.mit.edu	37	11	870480	870480	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr11:870480C>T	ENST00000449825.1	-	11	1335	c.979G>A	c.(979-981)Gac>Aac	p.D327N	CHID1_ENST00000454838.2_Missense_Mutation_p.D352N|CHID1_ENST00000323578.8_Missense_Mutation_p.D327N|CHID1_ENST00000528581.1_Missense_Mutation_p.D352N|CHID1_ENST00000429789.2_Missense_Mutation_p.D296N|CHID1_ENST00000323541.7_Missense_Mutation_p.D357N|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000336845.5_Missense_Mutation_p.D352N|CHID1_ENST00000436108.2_Missense_Mutation_p.D327N	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	327					chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		GGCCTGTGGTCCTTCAGTGTC	0.597000													4	10					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112650328	112650328	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr12:112650328G>A	ENST00000550722.1	-	49	7549	c.7154C>T	c.(7153-7155)tCt>tTt	p.S2385F	HECTD4_ENST00000430131.2_Missense_Mutation_p.S2109F|HECTD4_ENST00000377560.5_Missense_Mutation_p.S2359F	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CATGCCACCAGAGACGTCTTC	0.527000													12	82					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14824903	14824903	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr9:14824903C>T	ENST00000380881.4	-	12	2787	c.1972G>A	c.(1972-1974)Gag>Aag	p.E658K	FREM1_ENST00000422223.2_Missense_Mutation_p.E657K|FREM1_ENST00000380880.3_Missense_Mutation_p.E657K			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	657					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TAGGCCACCTCAGTTTCCTTG	0.408000													3	16					0	0	1	0	0
DIAPH2	1730	broad.mit.edu	37	X	96171501	96171501	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chrX:96171501C>G	ENST00000324765.8	+	8	1144	c.797C>G	c.(796-798)cCc>cGc	p.P266R	DIAPH2_ENST00000373049.4_Missense_Mutation_p.P266R|DIAPH2_ENST00000355827.4_Missense_Mutation_p.P266R|DIAPH2_ENST00000373054.4_Missense_Mutation_p.P262R|DIAPH2_ENST00000373061.3_Missense_Mutation_p.P266R			O60879	DIAP2_HUMAN	diaphanous-related formin 2	266	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GCAATTGACCCCAAACAACCC	0.303000													5	11					0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55862697	55862697	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr16:55862697G>A	ENST00000422046.2	-	2	520	c.239C>T	c.(238-240)gCc>gTc	p.A80V	CES1_ENST00000360526.3_Missense_Mutation_p.A81V|CES1_ENST00000361503.4_Missense_Mutation_p.A80V			P23141	EST1_HUMAN	carboxylesterase 1	80					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GTACGAGGTGGCATTCTTCAC	0.552000													3	46					0	0	1	0	0
SFTPA2	729238	broad.mit.edu	37	10	81317043	81317043	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr10:81317043C>G	ENST00000372325.2	-	6	753	c.669G>C	c.(667-669)caG>caC	p.Q223H	SFTPA2_ENST00000372327.5_Missense_Mutation_p.Q223H	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	223	C-type lectin.		Q -> K (in allele 1A(1), allele 1A(3) and allele 1A(4); dbSNP:rs1965708).		cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TCTCCACACACTGCTCTTTTC	0.562000									Pulmonary Fibrosis, Idiopathic				22	200					0	0	1	0	0
PGAM2	5224	broad.mit.edu	37	7	44104787	44104787	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr7:44104787G>C	ENST00000297283.3	-	1	399	c.342C>G	c.(340-342)atC>atG	p.I114M	AC017116.11_ENST00000445938.1_RNA	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	114				KI -> RS (in Ref. 3; AAA60072).	gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity	p.I114I(1)		large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						AGCGCCTCCAGATCTTCACCT	0.627000													9	48					0	0	1	0	0
FAM111A	63901	broad.mit.edu	37	11	58919996	58919996	+	Silent	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr11:58919996G>A	ENST00000528737.1	+	5	3673	c.855G>A	c.(853-855)gaG>gaA	p.E285E	FAM111A_ENST00000420244.1_Silent_p.E285E|FAM111A_ENST00000533703.1_Silent_p.E285E|FAM111A_ENST00000361723.3_Silent_p.E285E|FAM111A_ENST00000531147.1_Silent_p.E285E			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	285					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CTGAGTCAGAGAAAAGAAACA	0.413000													6	32					0	0	1	0	0
CDK11B	984	broad.mit.edu	37	1	1572327	1572327	+	Silent	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:1572327G>A	ENST00000407249.3	-	17	1740	c.1741C>T	c.(1741-1743)Ctg>Ttg	p.L581L	CDK11B_ENST00000317673.7_Silent_p.L579L|CDK11B_ENST00000341832.6_Silent_p.L534L|CDK11B_ENST00000340677.5_Silent_p.L568L			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	591	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						TAGGCCTTCAGAGGGGATCCG	0.677000													5	35					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121413963	121413963	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr3:121413963C>T	ENST00000393667.3	-	13	5517	c.5407G>A	c.(5407-5409)Gaa>Aaa	p.E1803K	GOLGB1_ENST00000340645.5_Missense_Mutation_p.E1798K	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1798					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCTTGCTCTTCAGTCTCACCT	0.453000													15	97					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	56077040	56077040	+	Silent	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr10:56077040C>T	ENST00000373965.2	-	8	1261	c.867G>A	c.(865-867)ttG>ttA	p.L289L	PCDH15_ENST00000361849.3_Silent_p.L289L|PCDH15_ENST00000373957.3_Silent_p.L267L|PCDH15_ENST00000395433.1_Silent_p.L267L|PCDH15_ENST00000395432.2_Silent_p.L252L|PCDH15_ENST00000395442.1_Silent_p.L289L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Silent_p.L289L|PCDH15_ENST00000395430.1_Silent_p.L289L|PCDH15_ENST00000395438.1_Silent_p.L289L|PCDH15_ENST00000373955.1_Silent_p.L289L|PCDH15_ENST00000320301.6_Silent_p.L289L|PCDH15_ENST00000395446.1_Silent_p.L289L|PCDH15_ENST00000395445.1_Silent_p.L289L|PCDH15_ENST00000437009.1_Silent_p.L289L|PCDH15_ENST00000414778.1_Silent_p.L294L	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	289	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCGGAGTTCTCAACTCAGGTA	0.383000										HNSCC(58;0.16)			7	33					0	0	1	0	0
