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
GLB1L3	112937	broad.mit.edu	37	11	134181019	134181019	+	Silent	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:134181019G>A	uc009zdf.3	+	12	1602	c.1242G>A	c.(1240-1242)ccG>ccA	p.P414P	GLB1L3_uc010scu.1_3'UTR|GLB1L3_uc001qho.4_Non-coding_Transcript	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	Homo sapiens galactosidase, beta 1-like 3 (GLB1L3), mRNA.	414					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CCGTGAGACCGTCGCTGTACC	0.622000													22	364					0	0	1	0	0
ERLIN2	11160	broad.mit.edu	37	8	37611003	37611003	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr8:37611003G>C	uc003xke.4	+	10	890	c.775G>C	c.(775-777)Gat>Cat	p.D259H		NM_007175	NP_009106	O94905	ERLN2_HUMAN	Homo sapiens ER lipid raft associated 2 (ERLIN2), transcript variant 1, mRNA.	259	Interaction with ERLIN1.				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GGCAAAGGCAGATGCTGAGTG	0.498000													3	54					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51612955	51612955	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr6:51612955A>C	uc003pah.1	-	57	9735	c.9459T>G	c.(9457-9459)ttT>ttG	p.F3153L	PKHD1_uc010jzn.1_Missense_Mutation_p.F1136L|PKHD1_uc003pai.3_Missense_Mutation_p.F3153L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3153					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.F3153L(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CACCATAGTCAAAGTTCTTGA	0.408000													16	209					0	0	1	0	0
RNF103	7844	broad.mit.edu	37	2	86847496	86847496	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:86847496T>C	uc002srn.3	-	1	1314	c.323A>G	c.(322-324)tAt>tGt	p.Y108C	RNF103_uc010ytl.2_Missense_Mutation_p.Y30C|RNF103_uc021vkg.1_Missense_Mutation_p.Y104C|RNF103_uc002srp.3_Missense_Mutation_p.Y108C	NM_005667	NP_005658	O00237	RN103_HUMAN	Homo sapiens ring finger protein 103 (RNF103), transcript variant 1, mRNA.	108					ER-associated protein catabolic process|central nervous system development	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						CACAAGCTCATAGAAGTGCAT	0.403000													11	71					0	0	1	0	0
FBXO38	81545	broad.mit.edu	37	5	147796680	147796680	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr5:147796680A>C	uc003lpf.1	+	11	1651	c.1531A>C	c.(1531-1533)Aac>Cac	p.N511H	FBXO38_uc003lpg.1_Missense_Mutation_p.N511H|FBXO38_uc003lph.2_Missense_Mutation_p.N511H	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	511						cytoplasm|nucleus		p.D510N(1)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCACGACAACAATCACCA	0.473000													12	31					0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41735080	41735080	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr22:41735080T>G	uc003azw.3	+	8	917	c.701T>G	c.(700-702)cTg>cGg	p.L234R		NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	250					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCTCACGTTCTGGACCTGCTG	0.667000													64	133					0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	91040570	91040570	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr15:91040570C>T	uc002bpl.1	+	36	4959	c.4858C>T	c.(4858-4860)Cag>Tag	p.Q1620*	IQGAP1_uc010uqg.1_Nonsense_Mutation_p.Q241*	NM_003870	NP_003861	P46940	IQGA1_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA.	1620	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GTTACATTATCAGGTGGGTAT	0.388000													14	29					0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90261436	90261436	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr9:90261436C>G	uc004apc.3	+	12	1330	c.1192C>G	c.(1192-1194)Ctc>Gtc	p.L398V	DAPK1_uc004ape.3_Missense_Mutation_p.L398V|DAPK1_uc004apd.3_Missense_Mutation_p.L398V|DAPK1_uc011ltg.2_Missense_Mutation_p.L398V|DAPK1_uc011lth.2_Missense_Mutation_p.L135V|DAPK1_uc004apf.1_5'Flank	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	398					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						ACTACAGTTGCTCATTAAAAG	0.343000									Chronic Lymphocytic Leukemia, Familial Clustering of				14	58					0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74928777	74928777	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr17:74928777G>A	uc002jti.3	+	9	1478	c.1375G>A	c.(1375-1377)Gag>Aag	p.E459K	MGAT5B_uc002jth.3_Missense_Mutation_p.E448K	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	448						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGAGCTCAACGAGACGGAGAA	0.627000													6	93					0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7682254	7682254	+	Silent	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr19:7682254T>C	uc002mgu.4	+	16	3437	c.3336T>C	c.(3334-3336)ccT>ccC	p.P1112P	CAMSAP3_uc002mgv.4_Silent_p.P1085P|CAMSAP3_uc002mgw.3_Silent_p.P215P	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	1085	CKK.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GCCGCCTGCCTGGAAGCCGCG	0.637000													4	68					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65246524	65246524	+	Silent	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr14:65246524C>T	uc001xht.3	-	19	4443	c.4392G>A	c.(4390-4392)ctG>ctA	p.L1464L	SPTB_uc001xhr.3_Silent_p.L1464L|SPTB_uc001xhs.3_Silent_p.L1464L|SPTB_uc001xhu.3_Silent_p.L1464L|SPTB_uc010aqi.3_Silent_p.L125L	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1464					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTAGGGGTTCCAGGAGGTCCA	0.582000													6	133					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5897548	5897548	+	Missense_Mutation	SNP	G	G	A	rs139177513		TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr20:5897548G>A	uc002wmg.3	+	2	479	c.173G>A	c.(172-174)cGc>cAc	p.R58H	CHGB_uc010zqz.2_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	58						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CCTGAGTGCCGCCAAGTCCTG	0.552000													20	88					0	0	1	0	0
AXIN2	8313	broad.mit.edu	37	17	63553974	63553974	+	Silent	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr17:63553974C>G	uc002jfi.3	-	1	1054	c.765G>C	c.(763-765)ctG>ctC	p.L255L	AXIN2_uc010den.1_Silent_p.L255L|AXIN2_uc002jfh.3_Silent_p.L255L|AXIN2_uc002jfj.1_Silent_p.L255L	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	Homo sapiens axin 2 (AXIN2), mRNA.	255					Wnt receptor signaling pathway involved in somitogenesis|cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|mRNA stabilization|maintenance of DNA repeat elements|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	GTPase activator activity|armadillo repeat domain binding|beta-catenin binding|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CCGTGGCCCTCAGAGTTTTGC	0.547000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				5	98					0	0	1	0	0
ERLIN2	11160	broad.mit.edu	37	8	37602094	37602094	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr8:37602094G>A	uc003xke.4	+	5	419	c.304G>A	c.(304-306)Gat>Aat	p.D102N	ERLIN2_uc003xkc.4_Missense_Mutation_p.D102N|ERLIN2_uc003xkd.3_Missense_Mutation_p.D102N|ERLIN2_uc003xkf.4_Missense_Mutation_p.D102N|ERLIN2_uc003xkg.3_Missense_Mutation_p.D102N	NM_007175	NP_009106	O94905	ERLN2_HUMAN	Homo sapiens ER lipid raft associated 2 (ERLIN2), transcript variant 1, mRNA.	102					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CTCAGTGTATGATATAGTGAA	0.478000													11	115					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166859166	166859166	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:166859166T>C	uc002udo.4	-	22	4327	c.4100A>G	c.(4099-4101)aAt>aGt	p.N1367S	SCN1A_uc010fpk.3_Missense_Mutation_p.N1339S|SCN1A_uc021vsb.1_Missense_Mutation_p.N1356S	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1367			N -> K (in SMEI; dbSNP:rs121918760).			voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.N1367S(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGCAAACAAATTTACGCCCAT	0.388000													6	68					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134622066	134622066	+	Silent	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr10:134622066C>G	uc021qbc.1	-	57	8108	c.8007G>C	c.(8005-8007)ctG>ctC	p.L2669L		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	830										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						ATGGCGCACACAGGCAGGCAG	0.706000													11	52					0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4919943	4919943	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr12:4919943G>A	uc001qng.3	+	0	1602	c.736G>A	c.(736-738)Ggg>Agg	p.G246R	KCNA6_uc021qtr.1_Missense_Mutation_p.G246R	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	246						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						AATGGGGACCGGGGGCTCCTC	0.547000										HNSCC(72;0.22)			5	113					0	0	1	0	0
RHOJ	57381	broad.mit.edu	37	14	63671716	63671716	+	Silent	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr14:63671716C>T	uc001xgb.2	+	0	615	c.129C>T	c.(127-129)aaC>aaT	p.N43N		NM_020663	NP_065714	Q9H4E5	RHOJ_HUMAN	Homo sapiens ras homolog gene family, member J (RHOJ), mRNA.	43					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		GCTACGCCAACGACGCCTTCC	0.572000													7	50					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131916039	131916039	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr8:131916039A>T	uc003ytd.4	-	6	2146	c.1890T>A	c.(1888-1890)gaT>gaA	p.D630E	ADCY8_uc010mds.3_Missense_Mutation_p.D630E	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	630					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCACGATATTATCAAAGGGCA	0.502000										HNSCC(32;0.087)			10	73					0	0	1	0	0
ERLIN2	11160	broad.mit.edu	37	8	37602102	37602102	+	Silent	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr8:37602102G>A	uc003xke.4	+	5	427	c.312G>A	c.(310-312)gtG>gtA	p.V104V	ERLIN2_uc003xkc.4_Silent_p.V104V|ERLIN2_uc003xkd.3_Silent_p.V104V|ERLIN2_uc003xkf.4_Silent_p.V104V|ERLIN2_uc003xkg.3_Silent_p.V104V	NM_007175	NP_009106	O94905	ERLN2_HUMAN	Homo sapiens ER lipid raft associated 2 (ERLIN2), transcript variant 1, mRNA.	104					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			ATGATATAGTGAAGAACTATA	0.478000													10	120					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152329230	152329230	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr1:152329230G>C	uc001ezw.4	-	2	1105	c.1032C>G	c.(1030-1032)aaC>aaG	p.N344K	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	344	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTACAGGGGTTAGACTCAG	0.502000													10	139					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31810040	31810040	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr10:31810040T>A	uc001ivs.4	+	6	1840	c.1777T>A	c.(1777-1779)Ttg>Atg	p.L593M	ZEB1_uc001ivr.4_Missense_Mutation_p.L375M|ZEB1_uc010qef.2_Missense_Mutation_p.L375M|ZEB1_uc009xlj.1_Missense_Mutation_p.L519M|ZEB1_uc010qeg.1_Missense_Mutation_p.L452M|ZEB1_uc009xlk.1_Missense_Mutation_p.L375M|ZEB1_uc001ivu.4_Missense_Mutation_p.L594M|ZEB1_uc010qeh.2_Missense_Mutation_p.L526M|ZEB1_uc001ivv.4_Missense_Mutation_p.L573M|ZEB1_uc001ivt.4_Missense_Mutation_p.L375M|ZEB1_uc009xlo.2_Missense_Mutation_p.L576M|ZEB1_uc009xlp.3_Missense_Mutation_p.L577M	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	593					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGAACCTCTTGTCTCTCCT	0.438000													8	84					0	0	1	0	0
RNF31	55072	broad.mit.edu	37	14	24618082	24618082	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr14:24618082C>A	uc001wmn.1	+	4	877	c.628C>A	c.(628-630)Cca>Aca	p.P210T	PSME2_uc001wmj.3_5'Flank|RNF31_uc001wml.1_Missense_Mutation_p.P59T|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.P25T|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.3_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	210	Polyubiquitin-binding.				CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		ACCCTCTGTCCCAGGTATTAT	0.458000													16	171					0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128703100	128703100	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:128703100T>C	uc010fmd.2	-	18	3041	c.2909A>G	c.(2908-2910)aAt>aGt	p.N970S	SAP130_uc002tpn.2_Missense_Mutation_p.N695S|SAP130_uc002tpp.2_Missense_Mutation_p.N935S	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	935	Interactions with SIN3A and HDAC1.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TCCTTTCTGATTAGCTATTTC	0.408000													4	68					0	0	1	0	0
SEC14L3	266629	broad.mit.edu	37	22	30866203	30866203	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr22:30866203C>T	uc003ahy.3	-	2	259	c.170G>A	c.(169-171)cGc>cAc	p.R57H	SEC14L3_uc003ahz.3_5'UTR|SEC14L3_uc003aia.3_5'UTR|SEC14L3_uc003aib.3_5'UTR	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA.	57						integral to membrane|intracellular	lipid binding|transporter activity	p.L56I(1)		NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	TCTCACCTTGCGGAGCAAAGC	0.527000													3	33					0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3214874	3214874	+	Silent	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr20:3214874G>A	uc010zqe.2	-	4	632	c.507C>T	c.(505-507)aaC>aaT	p.N169N	SLC4A11_uc002wig.3_Silent_p.N142N|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Silent_p.N126N	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	142					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	p.N142N(1)|p.N169N(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TGGCCGTCTCGTTCAGGACGA	0.597000													17	97					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202764	140202764	+	Silent	SNP	G	G	A	rs17844294		TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr5:140202764G>A	uc003lhl.2	+	0	1404	c.1404G>A	c.(1402-1404)ccG>ccA	p.P468P	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Silent_p.P468P|PCDHAC2_uc003lhj.1_Silent_p.P468P	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	483	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACAACCCGCCAGGCTGCC	0.677000													26	125					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12855916	12855916	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr1:12855916G>A	uc001auj.2	+	3	1299	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	399										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTGCTGCGCCACACCAGT	0.557000													7	147					0	0	1	0	0
PLAU	5328	broad.mit.edu	37	10	75673797	75673797	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr10:75673797A>G	uc001jwa.3	+	7	886	c.740A>G	c.(739-741)aAc>aGc	p.N247S	C10orf55_uc001jvz.2_Intron|PLAU_uc010qkw.2_Missense_Mutation_p.N230S|PLAU_uc010qkx.2_Missense_Mutation_p.N161S|PLAU_uc001jwb.3_Non-coding_Transcript|PLAU_uc001jwc.3_Missense_Mutation_p.N247S|PLAU_uc009xrq.1_Missense_Mutation_p.N211S	NM_002658	NP_002649	P00749	UROK_HUMAN	Homo sapiens plasminogen activator, urokinase (PLAU), transcript variant 1, mRNA.	247	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	CTTAACTCCAACACGCAAGGG	0.502000													6	54					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	323440	323440	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr10:323440A>G	uc001ifp.3	-	36	4586	c.4496T>C	c.(4495-4497)gTt>gCt	p.V1499A		NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	1499						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CACCAAGGGAACCAGGTCCAA	0.542000													5	40					0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165752808	165752808	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr6:165752808T>C	uc003qun.3	-	20	2352	c.2107A>G	c.(2107-2109)Atg>Gtg	p.M703V	PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_Missense_Mutation_p.M633V|PDE10A_uc003quo.3_Missense_Mutation_p.M713V	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	703					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CTGTCCATCATAGGAATAGGC	0.353000													4	126					0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151124292	151124292	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chrX:151124292C>G	uc004ffi.3	-	6	879	c.825G>C	c.(823-825)agG>agC	p.R275S	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	275					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGCCAAACCGCCTGCTCACAT	0.488000													13	50					0	0	1	0	0
OPN1LW	5956	broad.mit.edu	37	X	153416221	153416221	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chrX:153416221T>C	uc004fjz.4	+	1	239	c.206T>C	c.(205-207)tTc>tCc	p.F69S		NM_020061	NP_064445	P04000	OPSR_HUMAN	Homo sapiens opsin 1 (cone pigments), long-wave-sensitive (OPN1LW), mRNA.	69					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCATCCGTCTTCACAAATGGG	0.582000													3	74					0	0	1	0	0
GOLGA6L5	374650	broad.mit.edu	37	15	85055662	85055662	+	RNA	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr15:85055662T>C	uc002bkm.2	-	5		c.898A>G								Homo sapiens golgin A6 family-like 5 (pseudogene) (GOLGA6L5), non-coding RNA.																		CTCCTGTTCATGTAGCCTCTC	0.557000													2	7					0	0	1	0	0
GABRD	2563	broad.mit.edu	37	1	1957026	1957026	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr1:1957026G>A	uc001aip.2	+	3	414	c.319G>A	c.(319-321)Gag>Aag	p.E107K		NM_000815	NP_000806	O14764	GBRD_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA.	107						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CCACACCAACGAGACCCTGGG	0.637000													9	87					0	0	1	0	0
EXOC1	55763	broad.mit.edu	37	4	56744213	56744213	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr4:56744213A>G	uc003hbe.1	+	8	1363	c.1205A>G	c.(1204-1206)aAa>aGa	p.K402R	EXOC1_uc003hbf.1_Missense_Mutation_p.K402R|EXOC1_uc003hbg.1_Missense_Mutation_p.K402R	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	Homo sapiens exocyst complex component 1 (EXOC1), transcript variant 1, mRNA.	402					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					GATTATGGAAAATATGAAGGA	0.383000													25	66					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28877423	28877423	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr13:28877423C>T	uc001usb.3	-	29	4183	c.3898G>A	c.(3898-3900)Gtc>Atc	p.V1300I	FLT1_uc010aap.2_Missense_Mutation_p.V305I|FLT1_uc010aaq.2_Missense_Mutation_p.V425I|FLT1_uc001usa.3_Missense_Mutation_p.V518I	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	1300					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CCTTCGCTGACGTGCCCACAG	0.547000													5	73					0	0	1	0	0
KLHL7	55975	broad.mit.edu	37	7	23207656	23207656	+	Splice_Site	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr7:23207656C>G	uc003svs.4	+	9	1672	c.1379_splice	c.e9+1	p.T460_splice	KLHL7_uc003svr.4_Splice_Site_p.T438_splice|KLHL7_uc011jys.2_Splice_Site_p.T384_splice|KLHL7_uc011jyt.2_Splice_Site_p.T235_splice|KLHL7_uc003svt.3_Splice_Site_p.T412_splice|KLHL7_uc011jyv.2_Splice_Site_p.T190_splice	NM_001031710	NP_061334	Q8IXQ5	KLHL7_HUMAN	Homo sapiens kelch-like 7 (Drosophila) (KLHL7), transcript variant 1, mRNA.	460						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCCACAGAAACGTATGTATCT	0.368000													4	42					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139401765	139401765	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr9:139401765C>T	uc004chz.3	-	21	3635	c.3635G>A	c.(3634-3636)gGc>gAc	p.G1212D	NOTCH1_uc004cia.1_Missense_Mutation_p.G442D	NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	1212	EGF-like 31; calcium-binding (Potential).				Notch receptor processing|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	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|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)		ACCCTGAGTGCCCCGTGGGCA	0.687000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			3	43					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166900370	166900370	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:166900370G>A	uc002udo.4	-	12	2079	c.1852C>T	c.(1852-1854)Cgc>Tgc	p.R618C	SCN1A_uc010fpk.3_Missense_Mutation_p.R618C|SCN1A_uc021vsb.1_Missense_Mutation_p.R618C	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	618						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTGCTGTTGCGTCTCTCTCCG	0.537000													24	59					0	0	1	0	0
KBTBD12	166348	broad.mit.edu	37	3	127642852	127642852	+	Silent	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr3:127642852C>T	uc010hsr.3	+	0	951	c.948C>T	c.(946-948)taC>taT	p.Y316Y	KBTBD12_uc003ejy.4_Intron|KBTBD12_uc010hsq.3_Intron|KBTBD12_uc003eka.4_Intron|KBTBD12_uc003ejz.2_Silent_p.Y316Y	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	316								p.Y316Y(3)		endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CTCCCAAGTACGGAGAGGGTT	0.408000													6	74					0	0	1	0	0
OR5AU1	390445	broad.mit.edu	37	14	21624148	21624148	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr14:21624148T>C	uc010tlp.2	-	0	37	c.37A>G	c.(37-39)Ata>Gta	p.I13V		NM_001004731	NP_001004731	Q8NGC0	O5AU1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AU, member 1 (OR5AU1), mRNA.	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		ATGAGTCTTATTGAGGGCATT	0.448000													12	148					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48389905	48389905	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr10:48389905C>T	uc001jez.3	-	0	1087	c.973G>A	c.(973-975)Gcc>Acc	p.A325T		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	325	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCTGGAAGGGCGCTGCGCAGA	0.672000													6	43					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814399	137814399	+	Silent	SNP	T	T	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:137814399T>G	uc002tva.1	+	1	456	c.456T>G	c.(454-456)tcT>tcG	p.S152S	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Silent_p.S42S	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTGTAGTATCTGAGTTCTTAC	0.493000													13	246					0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798549	55798549	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:55798549T>A	uc010riw.2	+	0	655	c.655T>A	c.(655-657)Ttc>Atc	p.F219I		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TATTTCTTACTTCTGCATCCT	0.438000													13	189					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117012	117012	+	RNA	SNP	C	C	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chrGL000205.1:117012C>A	uc002kgk.4	+	0		c.390C>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		ACCAAAGAAGCTGTATTCCCT	0.478000													3	5					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805411	54805411	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr6:54805411C>A	uc003pck.3	+	4	1758	c.1642C>A	c.(1642-1644)Ccc>Acc	p.P548T		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	548										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AGTATTTAAACCCACTTTACC	0.423000													5	64					0	0	1	0	0
HBE1	3046	broad.mit.edu	37	11	5289795	5289795	+	Silent	SNP	A	A	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:5289795A>T	uc001mal.1	-	2	614	c.348T>A	c.(346-348)gcT>gcA	p.A116A	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Silent_p.A116A	NM_005330	NP_005321	P02100	HBE_HUMAN	Homo sapiens hemoglobin, epsilon 1 (HBE1), mRNA.	116					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	p.L115M(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAAGTGAGTAGCCAGAATAA	0.488000													19	135					0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17084569	17084569	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr1:17084569G>A	uc010ock.2	-	11	1529	c.1529C>T	c.(1528-1530)aCg>aTg	p.T510M	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Missense_Mutation_p.T110M					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						CTCATAGCCCGTGAGAGGCAT	0.572000													8	43					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17750102	17750102	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chrX:17750102A>G	uc011mix.2	+	8	4812	c.4474A>G	c.(4474-4476)Aca>Gca	p.T1492A	NHS_uc004cxx.3_Missense_Mutation_p.T1471A|NHS_uc004cxy.3_Missense_Mutation_p.T1315A|NHS_uc004cxz.3_Missense_Mutation_p.T1294A|NHS_uc004cya.3_Missense_Mutation_p.T1194A	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	1471						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CAGTAATGTGACAACCCCCAA	0.493000													14	82					0	0	1	0	0
FAM111A	63901	broad.mit.edu	37	11	58919681	58919681	+	Silent	SNP	A	A	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:58919681A>G	uc010rkp.2	+	4	767	c.540A>G	c.(538-540)gaA>gaG	p.E180E	FAM111A_uc010rkq.2_Silent_p.E180E|FAM111A_uc010rkr.2_Silent_p.E180E|FAM111A_uc001nno.3_Silent_p.E180E|FAM111A_uc001nnp.3_Silent_p.E180E|FAM111A_uc001nnq.3_Silent_p.E180E	NM_001142521	NP_942144	Q96PZ2	F111A_HUMAN	Homo sapiens family with sequence similarity 111, member A (FAM111A), transcript variant 5, mRNA.	180					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)				CATCGACTGAATGTGTCAAAT	0.408000													16	90					0	0	1	0	0
KANK2	25959	broad.mit.edu	37	19	11304613	11304613	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr19:11304613T>C	uc002mqm.3	-	1	222	c.143A>G	c.(142-144)aAg>aGg	p.K48R	KANK2_uc021upe.1_Missense_Mutation_p.K48R|KANK2_uc002mqo.4_Missense_Mutation_p.K48R|KANK2_uc002mqp.1_5'UTR|KANK2_uc002mqq.3_Missense_Mutation_p.K48R	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA.	48										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATCCACGTACTTGAGGAAGTC	0.692000													17	52					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720528	140720528	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr5:140720528G>A	uc003ljk.2	+	0	2175	c.1990G>A	c.(1990-1992)Gtg>Atg	p.V664M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.V664M	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	666	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCGTGGCCGTGGCCGACAG	0.677000													12	115					0	0	1	0	0
TRIM21	6737	broad.mit.edu	37	11	4411307	4411307	+	Silent	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:4411307G>A	uc001lyy.1	-	1	446	c.333C>T	c.(331-333)tgC>tgT	p.C111C		NM_003141	NP_003132	P19474	RO52_HUMAN	Homo sapiens tripartite motif containing 21 (TRIM21), mRNA.	111					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|RNA binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		CACATACCCAGCAAAGGGCCT	0.577000													3	41					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104107521	104107521	+	Silent	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr12:104107521C>T	uc001tjw.3	+	41	4698	c.4512C>T	c.(4510-4512)taC>taT	p.Y1504Y	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1504	EGF-like 12.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AAGCAGGCTACACGGGTGATG	0.517000													19	203					0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58533796	58533796	+	Silent	SNP	C	C	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr20:58533796C>A	uc002ybe.3	+	0	326	c.15C>A	c.(13-15)tcC>tcA	p.S5S	CDH26_uc010zzy.2_Non-coding_Transcript	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	5					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CCATGAGATCCGGGAGGCACC	0.592000													3	47					0	0	1	0	0
ANKRD45	339416	broad.mit.edu	37	1	173593981	173593981	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr1:173593981C>G	uc001gja.1	-	4	736	c.675G>C	c.(673-675)caG>caC	p.Q225H		NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA.	241								p.E224K(1)		NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						GTTGTTGTCTCTGCTCAAAAA	0.393000													9	48					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2162937	2162937	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr16:2162937C>T	uc002cos.1	-	12	3222	c.3013G>A	c.(3013-3015)Gtc>Atc	p.V1005I	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.V1005I	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	1005	PKD 4.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTCACGGTGACGTTGCTCACG	0.642000													4	48					0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28196380	28196380	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr22:28196380G>A	uc003adj.3	-	0	1107	c.152C>T	c.(151-153)gCt>gTt	p.A51V		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	51							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CGCGCTCATAGCAGGATCCAC	0.647000			T	ETV6	"""AML, meningioma"""								6	81					0	0	1	0	0
HPCA	3208	broad.mit.edu	37	1	33354639	33354639	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr1:33354639A>G	uc001bwh.3	+	1	180	c.140A>G	c.(139-141)gAg>gGg	p.E47G		NM_002143	NP_002134	P84074	HPCA_HUMAN	Homo sapiens hippocalcin (HPCA), mRNA.	47	EF-hand 1.						actin binding|calcium ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				AATGTGGATGAGTTCAAGAAG	0.537000													9	79					0	0	1	0	0
ERLIN2	11160	broad.mit.edu	37	8	37601885	37601885	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr8:37601885G>A	uc003xke.4	+	4	364	c.249G>A	c.(247-249)atG>atA	p.M83I	ERLIN2_uc003xkc.4_Missense_Mutation_p.M83I|ERLIN2_uc003xkd.3_Missense_Mutation_p.M83I|ERLIN2_uc003xkf.4_Missense_Mutation_p.M83I|ERLIN2_uc003xkg.3_Missense_Mutation_p.M83I	NM_007175	NP_009106	O94905	ERLN2_HUMAN	Homo sapiens ER lipid raft associated 2 (ERLIN2), transcript variant 1, mRNA.	83					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GTGGTGTGATGATCTACTTTG	0.507000													18	257					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140214180	140214180	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr5:140214180G>A	uc003lhq.2	+	0	212	c.212G>A	c.(211-213)cGt>cAt	p.R71H	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.R71H	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	86	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.R70R(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAAATTCCGTGGGGATCTT	0.617000													15	247					0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106573439	106573439	+	RNA	SNP	T	T	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr14:106573439T>A	uc021ser.1	-	1890		c.35256A>T								Parts of antibodies, mostly variable regions.																		TAGTAGTCACTGAAGGTGAAT	0.557000													28	190					0	0	1	0	0
REEP1	65055	broad.mit.edu	37	2	86459814	86459814	+	Missense_Mutation	SNP	G	G	A	rs144874997	byFrequency	TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:86459814G>A	uc021vke.1	-	5	557	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	REEP1_uc002srh.4_Missense_Mutation_p.R177W|REEP1_uc010yth.2_Missense_Mutation_p.R150W|REEP1_uc010yti.2_Silent_p.G98G|REEP1_uc010ytg.2_Missense_Mutation_p.R156W	NM_001164730	NP_001158202	Q9H902	REEP1_HUMAN	Homo sapiens receptor accessory protein 1 (REEP1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	177					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						CCGCTGGCCCGCCCAGACCCC	0.637000													10	52					0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48161138	48161138	+	Silent	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:48161138G>A	uc001ngp.4	+	10	2608	c.2253G>A	c.(2251-2253)gaG>gaA	p.E751E	PTPRJ_uc010rhr.1_Silent_p.E196E	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	751	Fibronectin type-III 8.				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CAGGCTTTGAGCTGGAGGTCA	0.562000													5	53					0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596291	24596291	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr6:24596291G>T	uc011djo.2	-	2	1111	c.611C>A	c.(610-612)gCg>gAg	p.A204E	KIAA0319_uc011djp.2_Missense_Mutation_p.A159E|KIAA0319_uc003neh.1_Missense_Mutation_p.A204E|KIAA0319_uc011djq.1_Missense_Mutation_p.A195E|KIAA0319_uc011djr.1_Missense_Mutation_p.A204E	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	204					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CGCTGGCACCGCAGGACTGTC	0.622000													3	36					0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26743040	26743040	+	Silent	SNP	G	G	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:26743040G>T	uc001mra.2	-	0	535	c.222C>A	c.(220-222)gtC>gtA	p.V74V	SLC5A12_uc001mrb.2_Intron|SLC5A12_uc001mrc.4_Silent_p.V74V	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	74					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	p.E73V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CAAAGCGGTAGACTTCAGAAG	0.512000													7	74					0	0	1	0	0
PCSK2	5126	broad.mit.edu	37	20	17436993	17436993	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr20:17436993G>A	uc002wpm.3	+	10	1456	c.1102_splice	c.e10-1	p.A368_splice	PCSK2_uc002wpl.3_Splice_Site_p.A349_splice|PCSK2_uc010zrm.2_Splice_Site_p.A333_splice	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	368	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCCCTTCCAGGCAACCACAGA	0.488000													15	180					0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921405	12921405	+	Missense_Mutation	SNP	G	G	A	rs143742734	byFrequency	TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr1:12921405G>A	uc001aum.1	+	3	1283	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	399										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTGCTGCGCCACACCAGT	0.557000													19	124					0	0	1	0	0
STARD8	9754	broad.mit.edu	37	X	67937307	67937307	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chrX:67937307G>A	uc004dxb.3	+	5	765	c.551G>A	c.(550-552)cGg>cAg	p.R184Q	STARD8_uc004dxa.3_Missense_Mutation_p.R104Q|STARD8_uc004dxc.4_Missense_Mutation_p.R104Q	NM_001142503	NP_055540	Q92502	STAR8_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.	104					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						TCGAGTGACCGGCCCCTCCTC	0.637000													8	26					0	0	1	0	0
FKBP9L	360132	broad.mit.edu	37	7	55755596	55755596	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr7:55755596G>T	uc010kzl.3	-	3	397	c.297C>A	c.(295-297)taC>taA	p.Y99*	FKBP9L_uc010kzk.3_5'UTR|FKBP9L_uc003tqt.3_5'UTR|FKBP9L_uc011kcs.2_5'UTR					Homo sapiens FK506 binding protein 9-like (FKBP9L), transcript variant 4, non-coding RNA.											endometrium(1)|kidney(1)|lung(3)	5						GAACAATACTGTAAGTTTTGC	0.478000													9	75					0	0	1	0	0
UBXN4	23190	broad.mit.edu	37	2	136536538	136536540	+	In_Frame_Del	DEL	TAA	-	-			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:136536538_136536540delTAA	uc002tur.3	+	10	1385_1387	c.1074_1076delTAA	c.(1072-1077)ggtaat>ggt	p.N359del	UBXN4_uc002tus.3_In_Frame_Del_p.N125del|UBXN4_uc002tut.3_5'UTR	NM_014607	NP_055422	Q92575	UBXN4_HUMAN	Homo sapiens UBX domain protein 4 (UBXN4), mRNA.	359	UBX.				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						ACACTTACGGTAATTTTTCGTTA	0.350													9	81	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	32091103	32091104	+	Frame_Shift_Ins	INS	-	C	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr5:32091103_32091104insC	uc003jhl.3	+	19	7937_7938	c.7549_7550insC	c.(7549-7551)accfs	p.T2517fs	PDZD2_uc003jhm.3_Frame_Shift_Ins_p.T2517fs	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	2517					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCTGGAGATCACCCCCAGGAGG	0.614													9	93	---	---	---	---					
LOC554223	554223	broad.mit.edu	37	6	29760353	29760373	+	In_Frame_Del	DEL	GCGGGCGCCGTGGATGGAGCA	-	-	rs74661005	by1000genomes	TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	uc003nnt.3	+	1	540_560	c.438_458delGCGGGCGCCGTGGATGGAGCA	c.(436-459)ccgcgggcgccgtggatggagcag>ccg	p.RAPWMEQ147del	HCG4_uc003nns.3_Non-coding_Transcript|LOC554223_uc010jrm.1_In_Frame_Del_p.AGAVDGA111del	NM_001207043	NP_001193972	Q86V94	Q86V94_HUMAN	Homo sapiens histocompatibility antigen-related (LOC554223), mRNA.	147					antigen processing and presentation|immune response	MHC class I protein complex											GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674													4	9	---	---	---	---					
VCPIP1	80124	broad.mit.edu	37	8	67578194	67578195	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr8:67578194_67578195insA	uc003xwn.3	-	0	1258_1259	c.999_1000insT	c.(997-1002)actgggfs	p.T333fs	SGK3_uc003xwp.3_5'Flank|C8orf44_uc003xwo.2_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Homo sapiens valosin containing protein (p97)/p47 complex interacting protein 1 (VCPIP1), mRNA.	333	OTU.				protein ubiquitination	Golgi stack|endoplasmic reticulum	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CCATCTTTCCCAGTGCACTTCT	0.470													13	146	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7576890	7576890	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr17:7576890delT	uc002gim.2	-	8	1150	c.956delA	c.(955-957)aagfs	p.K319fs	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Frame_Shift_Del_p.K319fs|TP53_uc010cne.1_Non-coding_Transcript|TP53_uc010cng.1_Frame_Shift_Del_p.K187fs|TP53_uc010cnf.1_Frame_Shift_Del_p.K187fs|TP53_uc002gii.1_Frame_Shift_Del_p.K187fs|TP53_uc010cni.1_Frame_Shift_Del_p.K319fs|TP53_uc010cnh.1_Frame_Shift_Del_p.K319fs|TP53_uc002gij.2_Frame_Shift_Del_p.K319fs|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	319	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.		K -> E (in sporadic cancers; somatic mutation).|K -> N (in a sporadic cancer; somatic mutation).|K -> R (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.K319*(7)|p.P318fs*15(3)|p.P318fs*21(2)|p.P318A(2)|p.K319R(2)|p.K319N(2)|p.K319E(2)|p.S315fs*22(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.K319fs*19(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)		TGGTTTCTTCTTTGGCTGGGG	0.468		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)			23	40	---	---	---	---					
BRCC3	79184	broad.mit.edu	37	X	154305487	154305487	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chrX:154305487delT	uc004fna.3	+	3	346	c.238delT	c.(238-240)ttafs	p.L80fs	BRCC3_uc011mzz.2_Non-coding_Transcript|BRCC3_uc004fnb.3_Frame_Shift_Del_p.L80fs|BRCC3_uc011mzy.2_Frame_Shift_Del_p.L81fs	NM_024332	NP_077308	P46736	BRCC3_HUMAN	Homo sapiens BRCA1/BRCA2-containing complex, subunit 3 (BRCC3), transcript variant 1, mRNA.	80					G2/M transition DNA damage checkpoint|double-strand break repair|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGTCATCATCTTACGACGTTC	0.433													21	23	---	---	---	---					
