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
CEP350	9857	broad.mit.edu	37	1	180061879	180061879	+	Silent	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr1:180061879G>A	ENST00000367607.3	+	34	7057	c.6639G>A	c.(6637-6639)agG>agA	p.R2213R	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2213						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GATCATCAAGGAAAATCAGAG	0.368000													4	16					0	0	1	0	0
C11orf48	79081	broad.mit.edu	37	11	62435195	62435195	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr11:62435195G>A	ENST00000431002.2	-	2	2149	c.416C>T	c.(415-417)cCt>cTt	p.P139L	C11orf48_ENST00000354588.3_Missense_Mutation_p.P113L|C11orf48_ENST00000532208.1_Missense_Mutation_p.P113L|METTL12_ENST00000532971.1_3'UTR			Q9BQE6	CK048_HUMAN	chromosome 11 open reading frame 48	139										endometrium(1)|lung(5)|urinary_tract(1)	7						AGGACTTCTAGGGTCCTGTGG	0.478000													6	241					0	0	1	0	0
DUSP1	1843	broad.mit.edu	37	5	172197266	172197266	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr5:172197266G>T	ENST00000239223.3	-	2	653	c.411C>A	c.(409-411)agC>agA	p.S137R	RP11-779O18.3_ENST00000523005.1_RNA	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	dual specificity phosphatase 1	137	Rhodanese.				cell cycle|endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		TCGACTGTTTGCTGCACAGCT	0.567000													4	41					0.00024832	0.000261389	1	1	0
FBLL1	345630	broad.mit.edu	37	5	167957190	167957190	+	Silent	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr5:167957190G>A	ENST00000338333.4	+	1	1070	c.681G>A	c.(679-681)gaG>gaA	p.E227E																								CGGTCCTGGAGGACGCGCGGC	0.672000													23	16					0	0	1	0	0
AADAC	13	broad.mit.edu	37	3	151535308	151535308	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr3:151535308G>A	ENST00000232892.6	+	2	419	c.293G>A	c.(292-294)aGa>aAa	p.R98K	AADAC_ENST00000488869.1_Missense_Mutation_p.R98K|RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	98					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GTGCCAAAGAGAAAGTCTGAA	0.448000													40	47					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108_splice	c.e1+1	p.Q36_splice	MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q			Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	497					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542000													5	90					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204948630	204948630	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr1:204948630G>A	ENST00000367172.4	+	19	2447	c.2119G>A	c.(2119-2121)Gag>Aag	p.E707K	NFASC_ENST00000367169.4_Missense_Mutation_p.E707K|NFASC_ENST00000513543.1_Missense_Mutation_p.E703K|NFASC_ENST00000404076.1_Missense_Mutation_p.E686K|NFASC_ENST00000339876.6_Missense_Mutation_p.E707K|NFASC_ENST00000367171.4_Missense_Mutation_p.E692K|NFASC_ENST00000338515.6_Missense_Mutation_p.E707K|NFASC_ENST00000367170.4_Missense_Mutation_p.E707K|NFASC_ENST00000338586.6_Missense_Mutation_p.E707K|NFASC_ENST00000404907.1_Missense_Mutation_p.E703K|NFASC_ENST00000360049.4_Missense_Mutation_p.E703K|NFASC_ENST00000539706.1_Missense_Mutation_p.E703K|NFASC_ENST00000401399.1_Missense_Mutation_p.E707K			O94856	NFASC_HUMAN	neurofascin	707	Fibronectin type-III 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGCCATCAACGAGGTTGGGAG	0.622000													32	234					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129563220	129563220	+	Silent	SNP	C	C	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr12:129563220C>A	ENST00000422113.2	-	8	2300	c.1974G>T	c.(1972-1974)gtG>gtT	p.V658V	TMEM132D_ENST00000389441.4_Silent_p.V196V	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	658						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCTCGTCCAGCACAGTGATGG	0.567000													13	115					7.93312e-07	8.69383e-07	1	1	0
MUC2	4583	broad.mit.edu	37	11	1093791	1093791	+	Silent	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr11:1093791G>A	ENST00000441003.2	+	30	5637	c.5610G>A	c.(5608-5610)acG>acA	p.T1870T	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Silent_p.T158T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1884						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCCCTCTCACGGAGTCAACCA	0.622000													6	397					0	0	1	0	0
GPR32	2854	broad.mit.edu	37	19	51274037	51274037	+	Silent	SNP	C	C	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr19:51274037C>A	ENST00000270590.4	+	1	317	c.180C>A	c.(178-180)ggC>ggA	p.G60G		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	60						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GAGTGCTGGGCAATGGGCTGG	0.587000													12	53					9.31168e-06	1.00667e-05	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11038739	11038739	+	RNA	SNP	G	G	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr21:11038739G>T	ENST00000470054.1	-	0	1464									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGTTTGGACCGAGGTCTACCA	0.388000													12	163					0.00244969	0.00251251	1	1	0
DEPDC1B	55789	broad.mit.edu	37	5	59943361	59943361	+	Splice_Site	SNP	C	C	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr5:59943361C>T	ENST00000265036.5	-	3	382		c.e3-1		DEPDC1B_ENST00000545085.1_Splice_Site|DEPDC1B_ENST00000453022.2_Splice_Site	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				AGGAGGAAATCTAAAACCCAA	0.378000													17	53					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156642568	156642568	+	Missense_Mutation	SNP	C	C	A	rs140134053	by1000genomes	TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr1:156642568C>A	ENST00000368223.3	-	4	1544	c.1412G>T	c.(1411-1413)aGc>aTc	p.S471I		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	471	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTGGTCAGGGCTGAGGGGTGG	0.622000													15	169					2.61681e-11	3.03399e-11	1	1	0
SCN7A	6332	broad.mit.edu	37	2	167263066	167263066	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr2:167263066C>T	ENST00000409855.1	-	25	4199	c.4073G>A	c.(4072-4074)cGt>cAt	p.R1358H		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1358					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TTTTCCAAGACGCAGCATGTG	0.468000													37	77					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227924263	227924263	+	Silent	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr2:227924263G>A	ENST00000396625.3	-	28	2448	c.2241C>T	c.(2239-2241)ccC>ccT	p.P747P	COL4A4_ENST00000329662.7_Silent_p.P747P	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	747	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.P747P(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTGGTGAGCCGGGAGGGCCTG	0.552000													42	96					0	0	1	0	0
NDUFAF6	137682	broad.mit.edu	37	8	96053846	96053846	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr8:96053846G>A	ENST00000396113.1	+	10	1243	c.193G>A	c.(193-195)Gat>Aat	p.D65N	NDUFAF6_ENST00000396124.4_Missense_Mutation_p.D157N|NDUFAF6_ENST00000396111.2_Missense_Mutation_p.D65N|NDUFAF6_ENST00000542894.1_Missense_Mutation_p.D105N|NDUFAF6_ENST00000286687.4_Missense_Mutation_p.D5N			Q330K2	CH038_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6	157					biosynthetic process	mitochondrion	transferase activity										GAAAATCGTCGATGAAAGAGT	0.284000													12	85					0	0	1	0	0
MMP1	4312	broad.mit.edu	37	11	102663365	102663365	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr11:102663365G>A	ENST00000315274.6	-	7	1071	c.1004C>T	c.(1003-1005)gCc>gTc	p.A335V	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	335	Hemopexin-like 2.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.A335D(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		ATCTCTGTCGGCAAATTCGTA	0.393000													10	1945					0	0	1	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627187	43627187	+	Silent	SNP	C	C	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr9:43627187C>T	ENST00000332857.6	-	4	1528	c.1500G>A	c.(1498-1500)caG>caA	p.Q500Q		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6									p.Q500Q(1)									GGAAAGAAGACTGAAGATGGG	0.547000													8	649					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40384116	40384116	+	Missense_Mutation	SNP	G	G	A	rs144364268		TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr19:40384116G>A	ENST00000221347.6	-	21	9501	c.9494C>T	c.(9493-9495)cCg>cTg	p.P3165L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3165	TIL 7.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACAGCTGGCCGGGCAGGGTGG	0.607000													35	450					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216243458	216243458	+	Missense_Mutation	SNP	T	T	G			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr1:216243458T>G	ENST00000366943.2	-	30	6420	c.6034A>C	c.(6034-6036)Aca>Cca	p.T2012P	USH2A_ENST00000307340.3_Missense_Mutation_p.T2012P			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2012	Fibronectin type-III 6.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGGTTGCTTGTATTGACAAAT	0.398000										HNSCC(13;0.011)			16	47					0	0	1	0	0
VAV2	7410	broad.mit.edu	37	9	136671256	136671256	+	Silent	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr9:136671256G>A	ENST00000371851.1	-	8	1093	c.768C>T	c.(766-768)tcC>tcT	p.S256S	VAV2_ENST00000371850.3_Silent_p.S261S|VAV2_ENST00000406606.3_Silent_p.S256S			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	261	DH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CCACCATCACGGACACGTCGA	0.632000													12	19					0	0	1	0	0
C14orf39	317761	broad.mit.edu	37	14	60921858	60921858	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr14:60921858C>A	ENST00000321731.3	-	16	1523	c.1364G>T	c.(1363-1365)aGa>aTa	p.R455I		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	455										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ATTTCTATTTCTGTTACTGAG	0.308000													9	45					5.4927e-09	6.103e-09	1	1	0
PCDHGA3	56112	broad.mit.edu	37	5	140723860	140723860	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr5:140723860C>T	ENST00000253812.6	+	1	260	c.260C>T	c.(259-261)gCg>gTg	p.A87V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGTCACCGCGGAGAGGATA	0.537000													45	62					0	0	1	0	0
NAGPA	51172	broad.mit.edu	37	16	5078047	5078047	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr16:5078047C>T	ENST00000312251.3	-	6	1079	c.1060G>A	c.(1060-1062)Ggt>Agt	p.G354S	NAGPA_ENST00000381955.3_Missense_Mutation_p.G354S|RP11-165E7.1_ENST00000588778.1_RNA	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	354					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	CAGCCGGGACCCCGCCAGAAG	0.687000													5	37					0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793355	65793355	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr11:65793355C>T	ENST00000312106.5	-	1	633	c.496G>A	c.(496-498)Gtg>Atg	p.V166M		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	166	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	p.V166M(2)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						TGGTGGGGCACGCCAGAGGAA	0.582000													30	61					0	0	1	0	0
DAK	26007	broad.mit.edu	37	11	61106814	61106814	+	Silent	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr11:61106814G>A	ENST00000394900.3	+	5	622	c.393G>A	c.(391-393)ccG>ccA	p.P131P		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	131	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						AAGGCATCCCGGTGGAGATGG	0.647000													24	116					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14031616	14031616	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr19:14031616G>A	ENST00000318003.7	+	14	1763	c.1522G>A	c.(1522-1524)Gca>Aca	p.A508T	CC2D1A_ENST00000589606.1_Missense_Mutation_p.A508T	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	508					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CCTGCAGGCCGCACTGCGAGC	0.647000													10	66					0	0	1	0	0
ZIK1	284307	broad.mit.edu	37	19	58101385	58101385	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr19:58101385G>A	ENST00000597850.1	+	4	421	c.206G>A	c.(205-207)gGc>gAc	p.G69D	ZIK1_ENST00000599456.1_Missense_Mutation_p.G14D|ZIK1_ENST00000307468.4_Missense_Mutation_p.A14T|ZIK1_ENST00000536878.2_Missense_Mutation_p.G56D	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	69	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCAGGTTGTGGCCATGGAACA	0.453000													8	33					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84694059	84694059	+	Silent	SNP	G	G	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr15:84694059G>T	ENST00000286744.5	+	27	4751	c.4527G>T	c.(4525-4527)acG>acT	p.T1509T	ADAMTSL3_ENST00000567476.1_Silent_p.T1509T	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1509	TSP type-1 9.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGCAGGTGACGTGCAAGCGGA	0.507000													15	35					0.000308642	0.000320667	1	1	0
FAM47B	170062	broad.mit.edu	37	X	34961676	34961676	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chrX:34961676G>A	ENST00000329357.5	+	1	764	c.728G>A	c.(727-729)cGc>cAc	p.R243H		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	243	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCAGAGACTCGCGCATCTCAT	0.642000													25	101					0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18659367	18659367	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr17:18659367A>G	ENST00000308799.4	+	5	1438	c.1219A>G	c.(1219-1221)Aac>Gac	p.N407D	FBXW10_ENST00000301938.4_Missense_Mutation_p.N378D|FBXW10_ENST00000395667.1_Missense_Mutation_p.N378D|FBXW10_ENST00000395665.4_Missense_Mutation_p.N378D			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	378								p.N378D(2)		NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GAATGAGTACAACCTGTGGAC	0.478000													4	33					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133378430	133378430	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr12:133378430G>A	ENST00000204726.3	-	8	2281	c.1723C>T	c.(1723-1725)Cgg>Tgg	p.R575W	GOLGA3_ENST00000545875.1_Missense_Mutation_p.R575W|GOLGA3_ENST00000537452.1_Missense_Mutation_p.R575W|GOLGA3_ENST00000450791.2_Missense_Mutation_p.R575W|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R575W	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	575	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TACCACTGCCGGACACTCTGC	0.652000													4	142					0	0	1	0	0
E2F5	1875	broad.mit.edu	37	8	86115438	86115438	+	Missense_Mutation	SNP	T	T	G			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr8:86115438T>G	ENST00000418930.2	+	3	650	c.454T>G	c.(454-456)Ttg>Gtg	p.L152V	E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000517476.1_5'UTR|E2F5_ENST00000416274.2_Missense_Mutation_p.L152V|E2F5_ENST00000521429.1_5'UTR|E2F5_ENST00000256117.5_Missense_Mutation_p.L152V			Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	152	Dimerization (Potential).				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						TCAGCAGAAGTTGTGGCTACA	0.318000													6	37					0	0	1	0	0
HAO1	54363	broad.mit.edu	37	20	7886869	7886869	+	Missense_Mutation	SNP	C	C	G	rs142998832	byFrequency	TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr20:7886869C>G	ENST00000378789.3	-	4	704	c.653G>C	c.(652-654)aGc>aCc	p.S218T		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	218	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ATCTTCCCAGCTGATAGATGG	0.388000													5	122					0	0	1	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919270	142919270	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr7:142919270C>T	ENST00000595842.1	-	1	90	c.91G>A	c.(91-93)Gat>Aat	p.D31N	TAS2R40_ENST00000408947.3_Silent_p.I33I																							TCACTGGCATCCTTGGGAGTG	0.517000													22	125					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134073184	134073184	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr4:134073184G>A	ENST00000264360.4	+	1	2715	c.1889G>A	c.(1888-1890)cGc>cAc	p.R630H		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	630	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AACCTCTTTCGCATGGACTGG	0.672000													6	92					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													5	168					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													3	34					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180061878	180061878	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr1:180061878G>A	ENST00000367607.3	+	34	7056	c.6638G>A	c.(6637-6639)aGg>aAg	p.R2213K	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2213						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGATCATCAAGGAAAATCAGA	0.368000													4	16					0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46781938	46781938	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr16:46781938G>T	ENST00000394809.4	-	1	283	c.168C>A	c.(166-168)gaC>gaA	p.D56E	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	56					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GGTGGCCCATGTCTCGGCACA	0.627000													11	54					9.70103e-10	1.09307e-09	1	1	0
SOX9	6662	broad.mit.edu	37	17	70119078	70119078	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr17:70119078G>A	ENST00000245479.2	+	2	1022	c.650G>A	c.(649-651)gGc>gAc	p.G217D		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	217					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			TCCTCCTCCGGCATGAGCGAG	0.697000													5	153					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130648600	130648600	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr12:130648600C>T	ENST00000539839.1	+	1	1597	c.1015C>T	c.(1015-1017)Cat>Tat	p.H339Y	FZD10_ENST00000229030.4_Silent_p.V371V	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TGATCCTGGTCATGCGCAGGG	0.662000													7	65					0	0	1	0	0
XAB2	56949	broad.mit.edu	37	19	7685213	7685213	+	Silent	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr19:7685213G>A	ENST00000358368.4	-	16	2251	c.2214C>T	c.(2212-2214)gtC>gtT	p.V738V	XAB2_ENST00000534844.1_Silent_p.V735V	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	738					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CCATGAAGTTGACCTGCGTGT	0.612000								Direct reversal of damage;Nucleotide excision repair (NER)					15	60					0	0	1	0	0
AC112229.4	0	broad.mit.edu	37	2	111144370	111144370	+	RNA	SNP	T	T	C			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr2:111144370T>C	ENST00000606848.1	-	0	1370																											GGCAGCACCATAGTGGCGGCC	0.622000													3	8					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48149453	48149453	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr16:48149453C>T	ENST00000311303.3	-	13	2207	c.1862G>A	c.(1861-1863)cGt>cAt	p.R621H	ABCC12_ENST00000448542.1_Missense_Mutation_p.R621H|ABCC12_ENST00000416054.1_Missense_Mutation_p.V597I	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	621	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GTAGAGCTGACGGTCGGAGTA	0.622000													16	91					0	0	1	0	0
AP1G2	8906	broad.mit.edu	37	14	24032660	24032660	+	Missense_Mutation	SNP	C	C	T	rs140628752	byFrequency	TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr14:24032660C>T	ENST00000308724.5	-	13	2094	c.1339G>A	c.(1339-1341)Ggg>Agg	p.G447R	AP1G2_ENST00000397120.3_Missense_Mutation_p.G447R|RP11-66N24.3_ENST00000555968.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	447					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		TGGGCCCCCCCAATCAGCTGG	0.602000											OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	29					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)		ACACTATGTCGAAAAGTGTTT	0.532000		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)			15	64					0	0	1	0	0
GUCY1B3	2983	broad.mit.edu	37	4	156698722	156698722	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr4:156698722C>A	ENST00000264424.8	+	4	307	c.225C>A	c.(223-225)ttC>ttA	p.F75L	GUCY1B3_ENST00000505764.1_Missense_Mutation_p.F55L|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.F75L|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.F7L|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.F7L|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.F75L|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.F7L	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	75					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		AGATGTTTTTCGTCTTTTGCC	0.353000													15	99					3.35478e-16	3.94679e-16	1	1	0
SLC2A9	56606	broad.mit.edu	37	4	10027568	10027568	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr4:10027568C>T	ENST00000506583.1	-	3	240	c.23G>A	c.(22-24)cGa>cAa	p.R8Q	SLC2A9_ENST00000309065.3_Missense_Mutation_p.R8Q			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	0					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						ATCTTCTCCTCGGTCCTTTTT	0.388000													4	56					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57963187	57963187	+	Splice_Site	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr12:57963187G>A	ENST00000455537.2	+	10	1242	c.968_splice	c.e10+1	p.R323_splice	KIF5A_ENST00000286452.5_Splice_Site_p.R234_splice	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	323	Kinesin-motor.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						TTTGGGCAGCGGTCAGTGGCA	0.572000													24	133					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													4	60					0	0	1	0	0
WNT1	7471	broad.mit.edu	37	12	49373479	49373479	+	Silent	SNP	C	C	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr12:49373479C>T	ENST00000293549.3	+	2	369	c.333C>T	c.(331-333)caC>caT	p.H111H		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	111					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		CAGGGCCCCACCTCTTCGGCA	0.682000													20	46					0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56572427	56572427	+	Missense_Mutation	SNP	G	G	A	rs148437803	byFrequency	TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr17:56572427G>A	ENST00000323456.5	-	16	3200	c.3076C>T	c.(3076-3078)Cgg>Tgg	p.R1026W	MTMR4_ENST00000579925.1_Missense_Mutation_p.R969W	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1026						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCGATTTGCCGTAACCTATGC	0.552000													20	125					0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529680	5529680	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr11:5529680C>T	ENST00000311659.4	-	2	1256	c.1109G>A	c.(1108-1110)aGc>aAc	p.S370N	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	370								p.S370I(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGTTCCTGGCTTTGGCTGAG	0.542000													32	156					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231162144	231162144	+	Silent	SNP	G	G	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr2:231162144G>T	ENST00000392045.3	+	22	2139	c.2025G>T	c.(2023-2025)ctG>ctT	p.L675L	SP140_ENST00000343805.6_Silent_p.L615L|SP140_ENST00000417495.3_Silent_p.L561L|SP140_ENST00000420434.3_Silent_p.L648L|SP140_ENST00000486687.2_Silent_p.L599L|SP140_ENST00000350136.5_Silent_p.L544L	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	675					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGAGAATACTGAAGTCTCAAA	0.338000													17	28					5.01169e-05	5.34581e-05	1	1	0
GCN1L1	10985	broad.mit.edu	37	12	120615320	120615320	+	Silent	SNP	T	T	C			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr12:120615320T>C	ENST00000300648.6	-	9	780	c.768A>G	c.(766-768)tcA>tcG	p.S256S		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	256					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTTAAATTCTGAGTGGGACA	0.473000													4	49					0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	313743	313743	+	Silent	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr12:313743G>A	ENST00000428720.1	-	4	1079	c.336C>T	c.(334-336)tgC>tgT	p.C112C	RP11-283I3.2_ENST00000539568.1_RNA|SLC6A12_ENST00000397296.2_Silent_p.C112C|SLC6A12_ENST00000359674.4_Silent_p.C112C|SLC6A12_ENST00000424061.2_Silent_p.C112C|SLC6A12_ENST00000536824.1_Silent_p.C112C	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	112					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GGAAGAGGGGGCAGATCTTCC	0.602000													17	46					0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T	rs140995428	by1000genomes	TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632000													4	117					0	0	1	0	0
KRI1	65095	broad.mit.edu	37	19	10668562	10668562	+	Missense_Mutation	SNP	C	C	T	rs144833930	byFrequency	TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr19:10668562C>T	ENST00000312962.6	-	15	1406	c.1387G>A	c.(1387-1389)Gac>Aac	p.D463N	KRI1_ENST00000361821.5_Missense_Mutation_p.D459N	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	463										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GGGTCGTAGTCGGCGTCCATC	0.657000													10	33					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56078994	56078994	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr12:56078994G>A	ENST00000257879.6	-	25	3477	c.3262C>T	c.(3262-3264)Cga>Tga	p.R1088*	ITGA7_ENST00000555728.1_Nonsense_Mutation_p.R1132*|ITGA7_ENST00000394230.2_3'UTR|ITGA7_ENST00000553804.1_Nonsense_Mutation_p.R1092*|ITGA7_ENST00000394229.2_3'UTR|ITGA7_ENST00000347027.6_Nonsense_Mutation_p.R1082*|ITGA7_ENST00000257880.7_3'UTR|ITGA7_ENST00000452168.2_Nonsense_Mutation_p.R995*	NM_002206.2	NP_002197.2	Q13683	ITA7_HUMAN	integrin, alpha 7	1132					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AACTGCTGTCGGTCTTCCCGA	0.627000													17	78					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42046798	42046798	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr1:42046798A>G	ENST00000372584.1	-	3	4685	c.3671T>C	c.(3670-3672)cTc>cCc	p.L1224P	HIVEP3_ENST00000247584.5_Missense_Mutation_p.L1224P|HIVEP3_ENST00000372583.1_Missense_Mutation_p.L1224P|HIVEP3_ENST00000429157.2_Missense_Mutation_p.L1224P	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1224					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGGCATGGGGAGGAAGGAAGG	0.582000													7	93					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29508730	29508730	+	Silent	SNP	A	A	G			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr17:29508730A>G	ENST00000358273.4	+	7	1040	c.657A>G	c.(655-657)gcA>gcG	p.A219A	NF1_ENST00000431387.4_Silent_p.A219A|NF1_ENST00000356175.3_Silent_p.A219A	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	219					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATTTATAGGCATTTTGGAACT	0.299000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			14	46					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11144112	11144112	+	Silent	SNP	C	C	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr19:11144112C>T	ENST00000358026.2	+	26	3977	c.3693C>T	c.(3691-3693)gcC>gcT	p.A1231A	SMARCA4_ENST00000541122.2_Silent_p.A1231A|SMARCA4_ENST00000590574.1_Silent_p.A1231A|SMARCA4_ENST00000589677.1_Silent_p.A1231A|SMARCA4_ENST00000444061.3_Silent_p.A1231A|SMARCA4_ENST00000450717.3_Silent_p.A1231A|SMARCA4_ENST00000429416.3_Silent_p.A1231A|SMARCA4_ENST00000344626.4_Silent_p.A1231A|SMARCA4_ENST00000413806.3_Silent_p.A1231A	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1231	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGATCCAGGCCGGCATGTTCG	0.632000			"""F, N, Mis"""		NSCLC								19	181					0	0	1	0	0
CDC42EP2	10435	broad.mit.edu	37	11	65088450	65088450	+	Silent	SNP	G	G	A	rs141215100	byFrequency	TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr11:65088450G>A	ENST00000544348.1	+	2	687	c.81G>A	c.(79-81)tcG>tcA	p.S27S	CDC42EP2_ENST00000533419.1_Silent_p.S27S|CDC42EP2_ENST00000279249.2_Silent_p.S27S			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	27					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity			lung(1)	1						TGCTGTCCTCGGACATGATCA	0.602000													21	56					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64112385	64112385	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr11:64112385C>T	ENST00000356786.5	+	14	2416	c.2372C>T	c.(2371-2373)gCc>gTc	p.A791V	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	791					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGGGAGCAAGCCCGGCTGCGG	0.731000													3	39					0	0	1	0	0
LOC101928372	101928372	broad.mit.edu	37	1	160905975	160905975	+	RNA	DEL	T	T	-			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr1:160905975delT	ENST00000356006.3	+	0	629																											cttcttcttcttttttttttt	0.393													3	6	---	---	---	---					
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	5	---	---	---	---					
CPOX	1371	broad.mit.edu	37	3	98243869	98243871	+	RNA	DEL	TTG	TTG	-			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr3:98243869_98243871delTTG	ENST00000502999.1	+	0	264																											TTTTTTTTTTTTGTATTCTAATA	0.320													2	4	---	---	---	---					
MORC1	27136	broad.mit.edu	37	3	108682418	108682419	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr3:108682418_108682419insT	ENST00000232603.5	-	27	2723_2724	c.2641_2642insA	c.(2641-2643)aaafs	p.K881fs	MORC1_ENST00000483760.1_Frame_Shift_Ins_p.K860fs	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	881					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTTCCTCTTTATTTTTTTTTCA	0.287													7	69	---	---	---	---					
EIF2A	83939	broad.mit.edu	37	3	150299510	150299510	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr3:150299510delA	ENST00000460851.1	+	12	1712	c.1603delA	c.(1603-1605)aafs	p.K536fs	SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000383043.3_Frame_Shift_Del_p.K322fs|SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000406576.3_Frame_Shift_Del_p.K475fs|EIF2A_ENST00000273435.5_Frame_Shift_Del_p.K531fs|EIF2A_ENST00000487799.1_Frame_Shift_Del_p.K511fs|EIF2A_ENST00000482471.1_3'UTR			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	536					regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|translation initiation factor activity|tRNA binding			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TGAGATAGACAAAAAAATCAA	0.403													2	4	---	---	---	---					
FGFRL1	53834	broad.mit.edu	37	4	1019055	1019056	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr4:1019055_1019056delCA	ENST00000398484.2	+	8	2015_2016	c.1435_1436delCA	c.(1435-1437)cfs	p.H479fs	FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	479	His-rich.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			cacagacatccacacacacaca	0.584													4	9	---	---	---	---					
CFI	3426	broad.mit.edu	37	4	110662159	110662159	+	Frame_Shift_Del	DEL	C	C	-	rs7437875	byFrequency	TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr4:110662159delC	ENST00000394634.2	-	13	1849	c.1642delG	c.(1642-1644)aafs	p.E548fs	CFI_ENST00000394635.3_Frame_Shift_Del_p.E556fs|CFI_ENST00000512148.1_Frame_Shift_Del_p.E541fs	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	548	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CCACAGTTTTCCCCCCAACTC	0.463													7	393	---	---	---	---					
PARP12	64761	broad.mit.edu	37	7	139762592	139762592	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr7:139762592delC	ENST00000263549.3	-	1	929	c.56delG	c.(55-57)gcfs	p.G19fs		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	19						nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CTCCAGGGCGCCCCCGGCCGC	0.781													2	4	---	---	---	---					
ADCK5	203054	broad.mit.edu	37	8	145617535	145617549	+	Splice_Site	DEL	GGGGGTGCAAGGTGA	GGGGGTGCAAGGTGA	-	rs11270020		TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	ENST00000308860.6	+	12	1301_1311	c.1267_splice	c.e12+1	p.L419_splice		NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	419	Protein kinase.					integral to membrane	protein serine/threonine kinase activity	p.?(2)		endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA	0.730													4	4	---	---	---	---					
FOXD4	2298	broad.mit.edu	37	9	117406	117407	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr9:117406_117407insG	ENST00000382500.2	-	1	1010_1011	c.713_714insC	c.(712-714)cccfs	p.P238fs		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	238	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	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			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTGGCTGCGGCGGGGCAGGGGC	0.743													10	220	---	---	---	---					
TMPRSS4-AS1	100526771	broad.mit.edu	37	11	117936783	117936783	+	RNA	DEL	C	C	-			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr11:117936783delC	ENST00000606951.1	-	0	43				TMPRSS4-AS1_ENST00000527329.1_RNA|TMPRSS4-AS1_ENST00000527695.1_RNA	NR_038318.1																						AGCCACAGGACCCCCCGGACG	0.607													4	4	---	---	---	---					
RP11-114H23.1	0	broad.mit.edu	37	12	76082490	76082491	+	RNA	INS	-	-	T	rs141632958		TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr12:76082490_76082491insT	ENST00000552856.1	-	0	401																											cattctTTTTCTTTTTTTTTTT	0.361													3	4	---	---	---	---					
CTD-3037G24.3	0	broad.mit.edu	37	16	12681794	12681795	+	RNA	INS	-	-	TC	rs34536364	by1000genomes	TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr16:12681794_12681795insTC	ENST00000564505.1	-	0	307																											GGGGGTGATAGtctgtcaccca	0.480													3	4	---	---	---	---					
TRIOBP	11078	broad.mit.edu	37	22	38142400	38142400	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr22:38142400delC	ENST00000403663.2	+	1	161	c.156delC	c.(154-156)ctfs	p.L52fs	TRIOBP_ENST00000406386.3_Intron|RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000407319.2_Frame_Shift_Del_p.L52fs	NM_007032.5	NP_008963.3	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1765					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCCTCCTGCTCCCGCCGCCCT	0.816													2	4	---	---	---	---					
APOBEC3G	60489	broad.mit.edu	37	22	39477512	39477513	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr22:39477512_39477513delAA	ENST00000407997.3	+	4	860_861	c.503_504delAA	c.(502-504)cfs	p.Q168fs	APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Frame_Shift_Del_p.Q168fs	NM_021822.3	NP_068594.1			apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G											central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					GTGTACAGCCAAAGAGAGCTAT	0.480													46	150	---	---	---	---					
TXLNGY	246126	broad.mit.edu	37	Y	21758039	21758039	+	RNA	DEL	A	A	-			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chrY:21758039delA	ENST00000253320.4	+	0	3120							Q9BZA5	CY15A_HUMAN												haematopoietic_and_lymphoid_tissue(1)	1						TACTTCTTGGAAAAAAAAAAA	0.378													3	6	---	---	---	---					
