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
SDR42E1	93517	broad.mit.edu	37	16	82033700	82033700	+	Silent	SNP	T	T	C			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr16:82033700T>C	ENST00000328945.5	-	3	325	c.198A>G	c.(196-198)aaA>aaG	p.K66K	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	66					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						CCTGGAAGGCTTTCTCTACGT	0.473000													7	124					0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113536317	113536317	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr13:113536317A>G	ENST00000375630.2	+	29	3603	c.3515A>G	c.(3514-3516)cAc>cGc	p.H1172R	ATP11A_ENST00000487903.1_3'UTR|ATP11A_ENST00000375645.3_3'UTR	NM_032189.3	NP_115565.3	P98196	AT11A_HUMAN	ATPase, class VI, type 11A	0					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GGTTCCCATCACCACTGCAGT	0.627000													23	37					0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125486748	125486748	+	Silent	SNP	C	C	T			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr9:125486748C>T	ENST00000259466.1	+	1	480	c.480C>T	c.(478-480)cgC>cgT	p.R160R		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CCCTGTTCCGCGTGCTACTTA	0.478000													17	170					0	0	1	0	0
RPIA	22934	broad.mit.edu	37	2	89049582	89049582	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr2:89049582A>C	ENST00000283646.4	+	9	978	c.923A>C	c.(922-924)aAg>aCg	p.K308T		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	308					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				ATGAGGGAGAAGCCTTTCTGT	0.532000													3	22					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692453	135692453	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr5:135692453C>T	ENST00000513104.1	-	2	905	c.623G>A	c.(622-624)cGg>cAg	p.R208Q	TRPC7_ENST00000426057.2_Missense_Mutation_p.R208Q|TRPC7_ENST00000355180.3_Missense_Mutation_p.R208Q	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	208					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGAGTCTTTCCGCTGTTTCTC	0.597000													11	25					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr17:45128812C>T	ENST00000575173.1	-	0	418																											AGTCCTGTTTCTGTGTGGATT	0.373000													3	28					0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131388554	131388554	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr3:131388554A>G	ENST00000512055.1	-	11	2772	c.646T>C	c.(646-648)Tct>Cct	p.S216P	CPNE4_ENST00000429747.1_Missense_Mutation_p.S216P|CPNE4_ENST00000502818.1_Missense_Mutation_p.S234P|CPNE4_ENST00000512332.1_Missense_Mutation_p.S234P|CPNE4_ENST00000511604.1_Missense_Mutation_p.S216P			Q96A23	CPNE4_HUMAN	copine IV	216	C2 2.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CTGCATAGAGAATTTACAGAT	0.398000													24	109					0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54321052	54321052	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chrX:54321052C>A	ENST00000354646.2	-	8	2065	c.1627G>T	c.(1627-1629)Gtt>Ttt	p.V543F	WNK3_ENST00000375159.2_Missense_Mutation_p.V543F|WNK3_ENST00000375169.3_Missense_Mutation_p.V543F	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	543					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TGTTGATCAACTTCAGTTTCT	0.453000													5	17					0.0293803	0.0307158	1	1	0
KATNAL1	84056	broad.mit.edu	37	13	30857773	30857773	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr13:30857773T>C	ENST00000380615.3	-	2	309	c.142A>G	c.(142-144)Atc>Gtc	p.I48V	KATNAL1_ENST00000380617.3_Missense_Mutation_p.I48V	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	48						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		TTGCCTTTGATAGCTGGATCT	0.398000													33	120					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43623650	43623650	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr10:43623650A>G	ENST00000355710.3	+	20	3510	c.3278A>G	c.(3277-3279)gAt>gGt	p.D1093G		NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1093					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TATCCAAATGATAGTGTATAT	0.438000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				5	99					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	rs121913499		TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr2:209113113G>T	ENST00000415913.1	-	4	775	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_ENST00000446179.1_Missense_Mutation_p.R132S|IDH1_ENST00000345146.2_Missense_Mutation_p.R132S	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								15	20					1.99824e-07	2.18854e-07	1	1	0
CELSR1	9620	broad.mit.edu	37	22	46780468	46780468	+	Silent	SNP	G	G	A			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr22:46780468G>A	ENST00000262738.3	-	20	6854	c.6855C>T	c.(6853-6855)gcC>gcT	p.A2285A		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2285					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGAAGAAGTCGGCTGGGAAGG	0.587000													7	9					0	0	1	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38187162	38187162	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr8:38187162C>T	ENST00000317025.8	-	6	1832	c.1315G>A	c.(1315-1317)Gcc>Acc	p.A439T	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.A439T|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.A439T|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.A439T	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	439					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			AGTGAGGAGGCCACCTCCCCT	0.498000			T	NUP98	AML								17	107					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139890318	139890318	+	Silent	SNP	G	G	A			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr8:139890318G>A	ENST00000303045.6	-	3	779	c.333C>T	c.(331-333)caC>caT	p.H111H	COL22A1_ENST00000435777.1_Silent_p.H111H	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	111	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGTTGCCCCCGTGGTAGGCGA	0.711000										HNSCC(7;0.00092)			3	9					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179701639	179701639	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr2:179701639G>A	ENST00000420890.2	-	23	4424	c.4307C>T	c.(4306-4308)cCa>cTa	p.P1436L	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.P861L	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	861							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGTAGGCTCTGGAAATCCTGT	0.428000													7	30					0	0	1	0	0
PI3	5266	broad.mit.edu	37	20	43804744	43804744	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr20:43804744T>C	ENST00000243924.3	+	2	369	c.322T>C	c.(322-324)Tct>Cct	p.S108P		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	108	WAP.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				CTGTGAAGGCTCTTGCGGGAT	0.552000													18	51					0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	9810864	9810864	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr11:9810864G>C	ENST00000256190.8	-	35	4861	c.4724C>G	c.(4723-4725)tCt>tGt	p.S1575C	SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000526617.1_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000499953.2_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1575	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CTTGAGGCTAGAGACGTTTAC	0.473000													7	62					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248309048	248309048	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr1:248309048T>C	ENST00000366476.1	+	1	599	c.599T>C	c.(598-600)tTc>tCc	p.F200S		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			AAGGTTCTTTTCATCTGCTGT	0.428000													20	261					0	0	1	0	0
BTLA	151888	broad.mit.edu	37	3	112185016	112185016	+	Missense_Mutation	SNP	C	C	A	rs138132778		TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr3:112185016C>A	ENST00000334529.5	-	5	1011	c.809G>T	c.(808-810)aGa>aTa	p.R270I	BTLA_ENST00000383680.4_Missense_Mutation_p.R222I|BTLA_ENST00000474965.1_5'UTR	NM_181780.3	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	270					T cell costimulation		receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				TCTTGCCAGTCTTGAGTTCGG	0.423000													4	109					0.150653	0.150653	1	1	0
MYL9	10398	broad.mit.edu	37	20	35173452	35173452	+	Silent	SNP	C	C	T			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr20:35173452C>T	ENST00000279022.2	+	2	269	c.165C>T	c.(163-165)caC>caT	p.H55H	RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA|MYL9_ENST00000346786.2_Silent_p.H55H	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	55	EF-hand 1.				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGGACCTGCACGACATGCTGG	0.547000													4	64					0	0	1	0	0
ZNF252P	286101	broad.mit.edu	37	8	146220777	146220777	+	RNA	SNP	A	A	G			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr8:146220777A>G	ENST00000426361.2	-	0	245					NR_023392.1															endometrium(1)	1						GCCTACATGAAGAAGAGAGAA	0.428000													10	30					0	0	1	0	0
CEP44	80817	broad.mit.edu	37	4	175224899	175224899	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr4:175224899C>T	ENST00000503780.1	+	5	697	c.283C>T	c.(283-285)Cag>Tag	p.Q95*	CEP44_ENST00000296519.4_Nonsense_Mutation_p.Q95*|CEP44_ENST00000457424.2_Nonsense_Mutation_p.Q95*|CEP44_ENST00000426172.1_Nonsense_Mutation_p.Q95*	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	95						centrosome|midbody|spindle pole				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						GACAAAAAAGCAGTTTATCCA	0.318000													12	16					0	0	1	0	0
LIPN	643418	broad.mit.edu	37	10	90524167	90524167	+	Splice_Site	SNP	G	G	A			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr10:90524167G>A	ENST00000404459.1	+	3	227	c.227G>A	c.(226-228)gGt>gAt	p.G76D		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	76					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		CCCCCACCAGGTCCCCGGCCA	0.453000													11	46					0	0	1	0	0
OGT	8473	broad.mit.edu	37	X	70783246	70783246	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chrX:70783246C>T	ENST00000373719.3	+	18	2550	c.2333C>T	c.(2332-2334)cCt>cTt	p.P778L	OGT_ENST00000373701.3_Missense_Mutation_p.P768L	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	778					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CCTGTTATTCCTATGAATACT	0.358000													6	63					0	0	1	0	0
FOXS1	2307	broad.mit.edu	37	20	30433325	30433325	+	Silent	SNP	G	G	A			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr20:30433325G>A	ENST00000375978.3	-	1	95	c.21C>T	c.(19-21)ccC>ccT	p.P7P		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	7					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.P7P(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CGCCAGGCCCGGGCAGAGGCT	0.682000													21	51					0	0	1	0	0
ARSD	414	broad.mit.edu	37	X	2825456	2825456	+	Silent	SNP	G	G	A			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chrX:2825456G>A	ENST00000381154.1	-	10	1713	c.1638C>T	c.(1636-1638)gcC>gcT	p.A546A		NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	546						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCGACACCGCGGCACCTACCC	0.647000													12	12					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11181326	11181326	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr1:11181326A>G	ENST00000361445.4	-	49	6986	c.6910T>C	c.(6910-6912)Tgg>Cgg	p.W2304R	MTOR_ENST00000376838.1_Missense_Mutation_p.W509R	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2304	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CTTTTCAGCCACAGCAGCTTG	0.587000													8	23					0	0	1	0	0
KLHL40	131377	broad.mit.edu	37	3	42727549	42727549	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr3:42727549C>T	ENST00000287777.4	+	1	539	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C		NM_152393.2	NP_689606.2			kelch-like family member 40																		CGACTGCGCGCGTCTCGCCGT	0.652000													8	65					0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55730230	55730230	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr16:55730230C>T	ENST00000379906.2	+	8	1496	c.1241C>T	c.(1240-1242)gCg>gTg	p.A414V	SLC6A2_ENST00000566163.1_Missense_Mutation_p.A369V|SLC6A2_ENST00000568943.1_Missense_Mutation_p.A414V|SLC6A2_ENST00000561820.1_Missense_Mutation_p.A414V|SLC6A2_ENST00000219833.8_Missense_Mutation_p.A414V|SLC6A2_ENST00000567238.1_Missense_Mutation_p.A309V|SLC6A2_ENST00000414754.3_Missense_Mutation_p.A414V	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	414					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	ATGCTCCTGGCGCTGGGCCTT	0.557000													4	71					0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541619	55541619	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr11:55541619C>T	ENST00000361760.1	+	1	706	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	236			R -> L (in dbSNP:rs7124871).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGCAAGTGGGCGCCAGAAAAC	0.408000													24	75					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22222729	22222729	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr1:22222729C>T	ENST00000374695.3	-	2	217	c.138G>A	c.(136-138)atG>atA	p.M46I		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	46					angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GTGTCCAGCGCATTTGGCTTG	0.557000													31	112					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124348751	124348751	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr10:124348751G>T	ENST00000338354.3	+	17	2181	c.2075G>T	c.(2074-2076)gGc>gTc	p.G692V	DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.G682V|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.G692V|DMBT1_ENST00000368955.3_Missense_Mutation_p.G682V			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	692	SRCR 5.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CACAACTGTGGCCATCATGAA	0.542000													4	58					0.00024832	0.000265645	1	1	0
OR2W5	441932	broad.mit.edu	37	1	247655187	247655187	+	RNA	SNP	G	G	A			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr1:247655187G>A	ENST00000522351.1	+	0	818							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R253Q(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCTCTTCTACGGAACCATCAT	0.537000													11	72					0	0	1	0	0
UCKL1	54963	broad.mit.edu	37	20	62571549	62571549	+	Silent	SNP	C	C	T			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr20:62571549C>T	ENST00000369908.5	-	14	1775	c.1476G>A	c.(1474-1476)gcG>gcA	p.A492A	UCKL1_ENST00000354216.6_Silent_p.A507A|UCKL1_ENST00000358711.3_3'UTR|UCKL1_ENST00000369892.3_Silent_p.A507A	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	507					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GCTTGTCCACCGCCGTGGTGA	0.602000													3	32					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10411951	10411951	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr17:10411951C>A	ENST00000226207.5	-	16	1720	c.1626G>T	c.(1624-1626)atG>atT	p.M542I	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	542	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCTTGGGGAACATGCACTCCT	0.433000													19	75					1.42536e-11	1.63916e-11	1	1	0
GPRASP1	9737	broad.mit.edu	37	X	101911243	101911243	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chrX:101911243A>G	ENST00000537097.1	+	6	3215	c.2402A>G	c.(2401-2403)gAc>gGc	p.D801G	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.D801G|GPRASP1_ENST00000361600.5_Missense_Mutation_p.D801G|GPRASP1_ENST00000415986.1_Missense_Mutation_p.D801G	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	801	Glu-rich.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGAGAAGAAGACAGGCTAGCA	0.527000													6	125					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578454	7578454	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr17:7578454G>A	ENST00000420246.2	-	5	608	c.476C>T	c.(475-477)gCc>gTc	p.A159V	TP53_ENST00000445888.2_Missense_Mutation_p.A159V|TP53_ENST00000413465.2_Missense_Mutation_p.A159V|TP53_ENST00000359597.4_Missense_Mutation_p.A159V|TP53_ENST00000455263.2_Missense_Mutation_p.A159V|TP53_ENST00000269305.4_Missense_Mutation_p.A159V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	159	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.A159V(33)|p.0?(8)|p.A159D(7)|p.R158fs(6)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R26fs(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R158fs*11(1)|p.A66V(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.A27V(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGCCATGGCGCGGACGCG	0.627000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			47	6					0	0	1	0	0
LINC01359	101927084	broad.mit.edu	37	1	65451792	65451793	+	RNA	INS	-	-	T	rs113756498		TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr1:65451792_65451793insT	ENST00000447748.1	-	0	1775																											CAATCTAATTGttttttttttt	0.490													2	4	---	---	---	---					
OCLM	10896	broad.mit.edu	37	1	186370195	186370196	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr1:186370195_186370196delAT	ENST00000574641.1	+	1	492_493	c.18_19delAT	c.(16-21)ccattafs	p.L9fs	C1orf27_ENST00000367470.3_Intron|C1orf27_ENST00000432021.3_Intron|C1orf27_ENST00000287859.6_Intron|C1orf27_ENST00000419367.3_Intron	NM_022375.3	NP_071770.1	Q9Y5M6	TISR_HUMAN	oculomedin	9					visual perception												TGTATCCACCATTATTGTTAAA	0.356													10	175	---	---	---	---					
IL36B	27177	broad.mit.edu	37	2	113786563	113786564	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr2:113786563_113786564delAG	ENST00000259213.4	-	4	320_321	c.213_214delCT	c.(211-216)ctctgtfs	p.C72fs	IL36B_ENST00000327407.2_Frame_Shift_Del_p.C72fs	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	72					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						CAGAAGAGACAGAGATCTTTTC	0.411													7	86	---	---	---	---					
COBLL1	22837	broad.mit.edu	37	2	165551407	165551408	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr2:165551407_165551408delTC	ENST00000375458.2	-	11	2715_2716	c.2494_2495delGA	c.(2494-2496)gacfs	p.D832fs	COBLL1_ENST00000342193.4_Frame_Shift_Del_p.D870fs|COBLL1_ENST00000194871.6_Frame_Shift_Del_p.D937fs|COBLL1_ENST00000392717.2_Frame_Shift_Del_p.D908fs|COBLL1_ENST00000409184.3_Frame_Shift_Del_p.D870fs	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	908										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TGTGCCAGTGTCTCTTGTCATT	0.450													20	61	---	---	---	---					
LOC101927237	101927237	broad.mit.edu	37	4	68311853	68311855	+	RNA	DEL	GAG	GAG	-			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr4:68311853_68311855delGAG	ENST00000502400.1	-	0	34																											TCTCTATGGCGAGGAGGAGGAGG	0.547													3	3	---	---	---	---					
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396278	+	RNA	INS	-	-	T	rs148140777	by1000genomes	TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr10:118396277_118396278insT	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTTT	0.421													4	5	---	---	---	---					
MMP12	4321	broad.mit.edu	37	11	102737945	102737945	+	RNA	DEL	A	A	-	rs28381681		TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr11:102737945delA	ENST00000532855.1	-	0	1007							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	GTTTTCTGACAAAAAAAATTT	0.338													6	3	---	---	---	---					
RP11-114H23.1	0	broad.mit.edu	37	12	76082491	76082491	+	RNA	DEL	T	T	-	rs141632958		TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr12:76082491delT	ENST00000552856.1	-	0	401																											attctTTTTCTTTTTTTTTTT	0.363													3	3	---	---	---	---					
NCOR1P1	149934	broad.mit.edu	37	20	26084428	26084428	+	RNA	DEL	C	C	-			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr20:26084428delC	ENST00000478176.1	-	0	150					NR_003678.1																						TCTAATGAAACCTTTAGTAGT	0.313													3	6	---	---	---	---					
EMID1	129080	broad.mit.edu	37	22	29630137	29630137	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr22:29630137delC	ENST00000334018.6	+	11	1166	c.978delC	c.(976-978)ggcfs	p.G326fs	EMID1_ENST00000404820.3_Frame_Shift_Del_p.G326fs|EMID1_ENST00000404755.3_Intron	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	324	Collagen-like.					collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						GACCCCCAGGCCCCACTGGAC	0.642													2	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76814303	76814306	+	Frame_Shift_Del	DEL	ATAA	ATAA	-			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chrX:76814303_76814306delATAA	ENST00000373344.5	-	29	6552_6555	c.6338_6341delTTAT	c.(6337-6342)tttatcfs	p.FI2113fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2113	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.F2113fs*9(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AGTAGAAATGATAAATAATCGTCC	0.289			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						14	25	---	---	---	---					
