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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
REC8	9985	broad.mit.edu	37	14	24648037	24648037	+	Missense_Mutation	SNP	C	T	T			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr14:24648037C>T	uc001wmr.3	+	14	1542	c.1115C>T	c.(1114-1116)cCc>cTc	p.P372L	REC8_uc001wms.3_Missense_Mutation_p.P372L	NM_005132	NP_005123	O95072	REC8_HUMAN	Homo sapiens REC8 homolog (yeast) (REC8), transcript variant 1, mRNA.	373	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		GCCCAGCCACCCCCAAAAGCC	0.587000														213			79		0	0	0.048971	0	0
CSNK2A1	1457	broad.mit.edu	37	20	467041	467041	+	Missense_Mutation	SNP	T	C	C			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr20:467041T>C	uc002wdw.1	-	12	1432	c.1039A>G	c.(1039-1041)Agc>Ggc	p.S347G	CSNK2A1_uc002wdx.1_Missense_Mutation_p.S347G|CSNK2A1_uc002wdy.1_Missense_Mutation_p.S211G	NM_177559	NP_808228	P68400	CSK21_HUMAN	Homo sapiens casein kinase 2, alpha 1 polypeptide (CSNK2A1), transcript variant 1, mRNA.	347					Wnt receptor signaling pathway|axon guidance	NuRD complex|Sin3 complex|cytosol|plasma membrane	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TTGGCGCTGCTGACGGGCGTA	0.428000														88			29		0	0	0.041601	0	0
RNMTL1	55178	broad.mit.edu	37	17	694912	694912	+	Missense_Mutation	SNP	A	T	T			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr17:694912A>T	uc002frw.3	+	3	972	c.866A>T	c.(865-867)aAc>aTc	p.N289I		NM_018146	NP_060616	Q9HC36	RMTL1_HUMAN	Homo sapiens RNA methyltransferase like 1 (RNMTL1), mRNA.	289					RNA processing		RNA binding|RNA methyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		GTGGCTGACAACTGTGGCCTT	0.498000														135			163		0	0	0.048971	0	0
CUX1	1523	broad.mit.edu	37	7	101837159	101837159	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr7:101837159G>A	uc003uys.4	+	12	1274	c.1147G>A	c.(1147-1149)Gct>Act	p.A383T	CUX1_uc003uyw.3_Missense_Mutation_p.A337T|CUX1_uc003uyv.3_Missense_Mutation_p.A367T|CUX1_uc003uyt.3_Missense_Mutation_p.A383T|CUX1_uc003uyu.3_Missense_Mutation_p.A381T|CUX1_uc011kkn.2_Missense_Mutation_p.A344T|CUX1_uc003uyx.4_Missense_Mutation_p.A372T	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	372					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GTCCGAGGGCGCTGGGACACA	0.517000														36			48		0	0	0.048971	0	0
GNA13	10672	broad.mit.edu	37	17	63049838	63049838	+	Missense_Mutation	SNP	C	A	A			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr17:63049838C>A	uc002jfc.3	-	1	501	c.292G>T	c.(292-294)Gtg>Ttg	p.V98L	GNA13_uc010wqh.2_Missense_Mutation_p.V3L	NM_006572	NP_006563	Q14344	GNA13_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 13 (GNA13), mRNA.	98					Rho protein signal transduction|activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						TCAACCAGCACCCTCATACCT	0.383000														140			167		2.0106e-78	2.36732e-78	0.048971	1	0
RUVBL1	8607	broad.mit.edu	37	3	127831784	127831784	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr3:127831784G>A	uc003ekh.3	-	2	412	c.308C>T	c.(307-309)tCa>tTa	p.S103L	RUVBL1_uc003ekf.3_Missense_Mutation_p.S43L|RUVBL1_uc010hss.3_Missense_Mutation_p.S103L	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	Homo sapiens RuvB-like 1 (E. coli) (RUVBL1), mRNA.	103					CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|cell division|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|MLL1 complex|NuA4 histone acetyltransferase complex|membrane|microtubule organizing center|nuclear matrix	ATP binding|DNA helicase activity|protein binding	p.Y102Y(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		GATCTCAGTTGAGTAAACTTC	0.502000														154			84		0	0	0.048971	0	0
ACIN1	22985	broad.mit.edu	37	14	23564436	23564436	+	Missense_Mutation	SNP	A	C	C			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr14:23564436A>C	uc001wit.4	-	0	388	c.60T>G	c.(58-60)aaT>aaG	p.N20K	ACIN1_uc010akg.3_Missense_Mutation_p.N20K|ACIN1_uc010tnj.2_Missense_Mutation_p.N20K|C14orf119_uc001wiu.3_5'Flank|C14orf119_uc021rqv.1_5'Flank	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.	20					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CTACCCCTCGATTACCACTCA	0.592000														88			77		0	0	0.048971	0	0
PRH1	5554	broad.mit.edu	37	12	11035282	11035282	+	Missense_Mutation	SNP	T	A	A			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr12:11035282T>A	uc021qvf.1	-	2	174	c.116A>T	c.(115-117)gAg>gTg	p.E39V	PRH1_uc001qzb.4_Non-coding_Transcript|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Non-coding_Transcript|PRB4_uc001qzf.1_Intron	NM_006250	NP_006241	P02810	PRPC_HUMAN	Homo sapiens proline-rich protein HaeIII subfamily 1 (PRH1), mRNA.	39	Inhibits hydroxyapatite formation, binds to hydroxyapatite and calcium.					extracellular space	protein binding			endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(232;0.245)		TAGGAACTGCTCAGAGTCTCC	0.547000														183			72		0	0	0.048971	0	0
KCNC4	3749	broad.mit.edu	37	1	110768796	110768796	+	Silent	SNP	G	A	A			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr1:110768796G>A	uc009wfr.3	+	2	2601	c.1815G>A	c.(1813-1815)cgG>cgA	p.R605R	KCNC4_uc001dzh.3_Silent_p.R605R|KCNC4_uc001dzi.3_Non-coding_Transcript|KCNC4_uc001dzg.3_Silent_p.R605R	NM_001039574	NP_001034663	Q03721	KCNC4_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 4 (KCNC4), transcript variant 3, mRNA.	605					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTAGTGTCCGGAAAGGTATGG	0.642000														44			29		0	0	0.054565	0	0
OR5I1	10798	broad.mit.edu	37	11	55703836	55703836	+	Missense_Mutation	SNP	A	T	T			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr11:55703836A>T	uc010ris.2	-	0	41	c.41T>A	c.(40-42)tTt>tAt	p.F14Y		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TAATAGAATAAACTCAGTGAC	0.358000														43			33		0	0	0.045705	0	0
CDK13	8621	broad.mit.edu	37	7	40127807	40127807	+	Missense_Mutation	SNP	T	C	C			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr7:40127807T>C	uc003thh.4	+	11	3394	c.3112T>C	c.(3112-3114)Tcc>Ccc	p.S1038P	CDK13_uc003thi.4_Missense_Mutation_p.S1038P|CDK13_uc003thj.3_Missense_Mutation_p.S89P	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	1038					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TGATGATGTTTCCACAATTAA	0.453000														98			87		0	0	0.048971	0	0
ST3GAL4	6484	broad.mit.edu	37	11	126278238	126278238	+	Missense_Mutation	SNP	C	A	A			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr11:126278238C>A	uc001qdx.1	+	4	362	c.345C>A	c.(343-345)gaC>gaA	p.D115E	ST3GAL4_uc001qds.3_Missense_Mutation_p.D158E|ST3GAL4_uc001qdu.3_Missense_Mutation_p.D154E|ST3GAL4_uc021qry.1_Missense_Mutation_p.D158E|ST3GAL4_uc009zce.3_Missense_Mutation_p.D154E|ST3GAL4_uc001qdw.3_Missense_Mutation_p.D157E|ST3GAL4_uc001qdz.3_5'UTR			Q11206	SIA4C_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 4 (ST3GAL4), transcript variant 3, mRNA.	158					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		ATGAGGGTGACGTGGGCTCCA	0.567000														42			22		3.62473e-10	3.94933e-10	0.062417	1	0
DMD	1756	broad.mit.edu	37	X	32867885	32867885	+	Missense_Mutation	SNP	C	T	T			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chrX:32867885C>T	uc004dda.1	-	2	390	c.146G>A	c.(145-147)cGc>cAc	p.R49H	DMD_uc004dcz.2_5'UTR|DMD_uc004dcy.1_Missense_Mutation_p.R45H|DMD_uc004ddb.1_Missense_Mutation_p.R41H|DMD_uc010ngo.1_Intron|DMD_uc004ddf.3_Missense_Mutation_p.R41H|DMD_uc010ngq.1_Non-coding_Transcript|DMD_uc010ngr.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	49	Actin-binding.|CH 1.		Missing (in BMD).		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTCTAGGAGGCGCCTCCCATC	0.393000														77			7		0	0	0.038147	0	0
ZNF501	115560	broad.mit.edu	37	3	44776081	44776081	+	Silent	SNP	A	G	G			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr3:44776081A>G	uc003cnu.1	+	2	569	c.168A>G	c.(166-168)ggA>ggG	p.G56G	ZNF501_uc021wwq.1_Silent_p.G56G	NM_145044	NP_659481	Q96CX3	ZN501_HUMAN	Homo sapiens zinc finger protein 501 (ZNF501), mRNA.	56					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		GTGAATGTGGAAGTTGTTTCC	0.403000														124			58		0	0	0.048971	0	0
GPS2	2874	broad.mit.edu	37	17	7230249	7230249	+	Silent	SNP	G	A	A			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr17:7230249G>A	uc002gga.1	-	3	880	c.873C>T	c.(871-873)aaC>aaT	p.N291N	GPS2_uc002ggb.1_Silent_p.N291N|GPS2_uc002ggc.1_5'Flank	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GGGAGCTCAGGTTCACATTCA	0.562000														60			85		0	0	0.048971	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	36864	36864	+	RNA	SNP	T	A	A			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chrGL000241.1:36864T>A	uc011mgv.2	-	0		c.12A>T								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		GCGGGGAGGATCAGAAGTGGA	0.582000														11			5		0	0	0.021553	0	0
LRP6	4040	broad.mit.edu	37	12	12317326	12317326	+	Missense_Mutation	SNP	T	G	G			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr12:12317326T>G	uc001rah.4	-	8	2075	c.1933A>C	c.(1933-1935)Att>Ctt	p.I645L	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.I645L	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	645	Beta-propeller 3.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity	p.R644*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TCCAGAGAAATTCGTCTGATA	0.418000														146			77		0	0	0.048971	0	0
ECE1	1889	broad.mit.edu	37	1	21585300	21585300	+	Silent	SNP	G	T	T			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr1:21585300G>T	uc001bek.2	-	5	723	c.648C>A	c.(646-648)gcC>gcA	p.A216A	ECE1_uc001bem.2_Silent_p.A200A|ECE1_uc001bej.2_Silent_p.A204A|ECE1_uc001bei.2_Silent_p.A213A|ECE1_uc010odl.1_Silent_p.A216A|ECE1_uc009vqa.1_Silent_p.A216A	NM_001397	NP_001388	P42892	ECE1_HUMAN	Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA.	216					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		AGTTGTCCTTGGCCCAGGGAC	0.597000														58			28		4.2108e-06	4.39126e-06	0.041601	1	0
GLS	2744	broad.mit.edu	37	2	191827660	191827660	+	Missense_Mutation	SNP	A	G	G			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr2:191827660A>G	uc002usf.2	+	17	2222	c.1958A>G	c.(1957-1959)gAc>gGc	p.D653G	GLS_uc002ush.2_Missense_Mutation_p.D314G|GLS_uc010zgi.1_3'UTR|GLS_uc010zgj.1_Missense_Mutation_p.D158G	NM_014905	NP_055720	O94925	GLSK_HUMAN	Homo sapiens glutaminase (GLS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	653					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GGAGATTCTGACAACGGGAAG	0.378000														63			46		0	0	0.045515	0	0
C11orf65	160140	broad.mit.edu	37	11	108276173	108276173	+	Missense_Mutation	SNP	T	C	C			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr11:108276173T>C	uc001pkh.3	-	5	613	c.543A>G	c.(541-543)atA>atG	p.I181M	C11orf65_uc010rvx.1_Missense_Mutation_p.I132M|C11orf65_uc009yxu.2_Non-coding_Transcript	NM_152587	NP_689800	Q8NCR3	CK065_HUMAN	Homo sapiens chromosome 11 open reading frame 65 (C11orf65), mRNA.	181										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		TCATCCACTCTATTTTTCTAA	0.338000														53			41		0	0	0.039052	0	0
MAGEB4	4115	broad.mit.edu	37	X	30261219	30261219	+	Missense_Mutation	SNP	G	T	T			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chrX:30261219G>T	uc004dcb.3	+	0	1163	c.967G>T	c.(967-969)Gcc>Tcc	p.A323S	MAGEB1_uc004dcc.3_5'Flank|MAGEB1_uc004dcd.3_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	Homo sapiens melanoma antigen family B, 4 (MAGEB4), mRNA.	323								p.A323D(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CAGAGTTGCAGCCAGGCGTGG	0.522000														3			21		4.30721e-22	4.76403e-22	0.055883	1	0
PCDH1	5097	broad.mit.edu	37	5	141233645	141233645	+	Missense_Mutation	SNP	C	G	G			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr5:141233645C>G	uc003llp.3	-	4	3793	c.3676G>C	c.(3676-3678)Gca>Cca	p.A1226P		NM_032420	NP_115796	Q08174	PCDH1_HUMAN	Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA.	0					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGGGCAGATGCCGGTGTGGCT	0.667000														13			16		0	0	0.043863	0	0
SLC13A1	6561	broad.mit.edu	37	7	122774491	122774491	+	Missense_Mutation	SNP	C	G	G			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr7:122774491C>G	uc003vkm.3	-	7	930	c.905G>C	c.(904-906)tGg>tCg	p.W302S	SLC13A1_uc010lks.3_Missense_Mutation_p.W178S	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	302						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CCACTGAAGCCAGATCCAGGA	0.418000														71			63		0	0	0.048971	0	0
TYW1B	441250	broad.mit.edu	37	7	72093896	72093896	+	Silent	SNP	C	T	T			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr7:72093896C>T	uc011kej.2	-	13	1749	c.1590G>A	c.(1588-1590)ggG>ggA	p.G530G	TYW1B_uc011keh.1_Silent_p.G368G|TYW1B_uc011kei.2_Silent_p.G157G	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) (TYW1B), transcript variant 1, mRNA.	531					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										AGTCAGGATTCCCCAGGGACA	0.537000														21			3		0	0	0.021553	0	0
KAT6B	23522	broad.mit.edu	37	10	76602897	76602897	+	Silent	SNP	G	T	T			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr10:76602897G>T	uc001jwn.1	+	2	775	c.282G>T	c.(280-282)ggG>ggT	p.G94G	KAT6B_uc001jwm.1_Silent_p.G94G|KAT6B_uc001jwo.1_Silent_p.G94G|KAT6B_uc001jwp.1_Silent_p.G94G	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	94					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CAGCCAAGGGGTCTAGAGGAT	0.473000														278			131		1.03447e-49	1.17994e-49	0.048971	1	0
LOC646214	646214	broad.mit.edu	37	15	21937891	21937891	+	RNA	SNP	T	A	A			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr15:21937891T>A	uc010tzj.1	-	0		c.2849A>T								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		GTGTTCAAAATCAGATGGAGG	0.428000														685			111		0	0	0.048971	0	0
JUNB	3726	broad.mit.edu	37	19	12903546	12903546	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr19:12903546G>A	uc002mvc.3	+	0	1237	c.961G>A	c.(961-963)Gtg>Atg	p.V321M		NM_002229	NP_002220	P17275	JUNB_HUMAN	Homo sapiens jun B proto-oncogene (JUNB), mRNA.	321	Leucine-zipper.					chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						CCGGGAGCAGGTGGCCCAGCT	0.652000														18			3		0	0	0.004672	0	0
RNMTL1	55178	broad.mit.edu	37	17	695133	695133	+	Missense_Mutation	SNP	A	C	C			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr17:695133A>C	uc002frw.3	+	3	1193	c.1087A>C	c.(1087-1089)Agc>Cgc	p.S363R		NM_018146	NP_060616	Q9HC36	RMTL1_HUMAN	Homo sapiens RNA methyltransferase like 1 (RNMTL1), mRNA.	363					RNA processing		RNA binding|RNA methyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		CTACGGCGTGAGCCTGGAGTC	0.627000														45			76		0	0	0.048971	0	0
DARS	1615	broad.mit.edu	37	2	136680361	136680361	+	Missense_Mutation	SNP	A	C	C			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr2:136680361A>C	uc002tux.1	-	8	988	c.804T>G	c.(802-804)atT>atG	p.I268M	DARS_uc010fnj.1_Missense_Mutation_p.I168M	NM_001349	NP_001340	P14868	SYDC_HUMAN	Homo sapiens aspartyl-tRNA synthetase (DARS), mRNA.	268					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	ATP binding|aminoacylase activity|aspartate-tRNA ligase activity|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	TACCTGGTCCAATAGAGAAAA	0.308000														74			62		0	0	0.048971	0	0
MST1P2	11209	broad.mit.edu	37	1	16976601	16976601	+	RNA	SNP	C	A	A	rs9728352	by1000genomes	TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr1:16976601C>A	uc010och.2	+	13		c.2322C>A			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		CCTGCTTTACCCACAACTGCT	0.562000														41			4		1.08611e-07	1.14907e-07	0.010729	1	0
SCN4A	6329	broad.mit.edu	37	17	62020429	62020429	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr17:62020429G>A	uc002jds.1	-	22	4122	c.4045C>T	c.(4045-4047)Ctc>Ttc	p.L1349F		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1349					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TTCGTCACGAGGTCATACACC	0.567000														157			58		0	0	0.048971	0	0
SNIP1	79753	broad.mit.edu	37	1	38019754	38019754	+	Missense_Mutation	SNP	C	G	G			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr1:38019754C>G	uc001cbi.3	-	0	150	c.77G>C	c.(76-78)gGg>gCg	p.G26A	SNIP1_uc010oid.2_Non-coding_Transcript|DNALI1_uc001cbj.3_5'Flank|DNALI1_uc010oie.2_5'Flank	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Homo sapiens Smad nuclear interacting protein 1 (SNIP1), mRNA.	26					production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding	p.A25S(1)		breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				CACCACCACCCCCGCCGGCAG	0.687000														36			27		0	0	0.059317	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21546590	21546590	+	Missense_Mutation	SNP	C	G	G			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr14:21546590C>G	uc001vzp.3	+	9	2218	c.2189C>G	c.(2188-2190)gCa>gGa	p.A730G	ARHGEF40_uc001vzo.1_Intron|ARHGEF40_uc010aij.3_Non-coding_Transcript|ARHGEF40_uc010tln.2_Missense_Mutation_p.A16G	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 40 (ARHGEF40), mRNA.	730					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CGGCTGACGGCACTGCAGAGG	0.632000														88			33		0	0	0.025465	0	0
RBM14	10432	broad.mit.edu	37	11	66411450	66411450	+	Silent	SNP	T	A	A			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr11:66411450T>A	uc009yrj.3	+	2	1430	c.942T>A	c.(940-942)gcT>gcA	p.A314A	RBM14_uc009yrk.3_Silent_p.A289A|RBM14_uc021qmb.1_Intron|RBM14_uc001oiw.2_Silent_p.A314A|RBM14_uc001oix.2_Intron|RBM14_uc010rpj.2_Intron|RBM14_uc001oiz.2_Silent_p.A314A	NM_002896	NP_002887	Q96PK6	RBM14_HUMAN	Homo sapiens RNA binding motif protein 4 (RBM4), transcript variant 1, mRNA.	505	Ala-rich.|TRBP-interacting domain.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	RNA binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						TGCGTCGCGCTACAGCCCCAG	0.617000														79			51		0	0	0.048971	0	0
AKAP6	9472	broad.mit.edu	37	14	33291241	33291241	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr14:33291241G>A	uc001wrq.3	+	12	4392	c.4222G>A	c.(4222-4224)Gtg>Atg	p.V1408M		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1408					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TGCAGTTAACGTGTTAAAGCA	0.438000														64			47		0	0	0.045515	0	0
LRP4	4038	broad.mit.edu	37	11	46897384	46897384	+	Nonsense_Mutation	SNP	G	A	A			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr11:46897384G>A	uc001ndn.4	-	25	3913	c.3670C>T	c.(3670-3672)Caa>Taa	p.Q1224*		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	1224					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CATAGCAGTTGGGAGCTGGCC	0.602000														52			37		0	0	0.069456	0	0
PCF11	51585	broad.mit.edu	37	11	82877725	82877725	+	Missense_Mutation	SNP	A	G	G			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr11:82877725A>G	uc001ozx.4	+	4	2131	c.1786A>G	c.(1786-1788)Aga>Gga	p.R596G	PCF11_uc010rsu.1_Missense_Mutation_p.R596G	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	596					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		p.R695R(1)|p.R596R(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GTCTGCCAAAAGATGGAAATC	0.348000														73			54		0	0	0.048971	0	0
IL9R	3581	broad.mit.edu	37	X	155235803	155235803	+	Missense_Mutation	SNP	C	G	G	rs150341783		TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chrX:155235803C>G	uc004fnv.1	+	6	1016	c.837C>G	c.(835-837)atC>atG	p.I279M	IL9R_uc010nvn.2_Missense_Mutation_p.I258M|IL9R_uc004fnu.1_Missense_Mutation_p.I314M	NM_002186	NP_002177	Q01113	IL9R_HUMAN	Homo sapiens interleukin 9 receptor (IL9R), transcript variant 1, mRNA.	279					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	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)					CTGTGTCCATCTTTCTCCTGC	0.617000														38			3		0	0	0.013537	0	0
SNRNP48	154007	broad.mit.edu	37	6	7601644	7601644	+	Missense_Mutation	SNP	G	C	C	rs143226311		TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr6:7601644G>C	uc003mxr.3	+	4	541	c.482G>C	c.(481-483)cGt>cCt	p.R161P	SNRNP48_uc003mxs.3_Non-coding_Transcript	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN	Homo sapiens small nuclear ribonucleoprotein 48kDa (U11/U12) (SNRNP48), mRNA.	161					mRNA processing	U12-type spliceosomal complex|cytoplasm	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CAAGCTGATCGTCTTGCCCTC	0.368000														95			54		0	0	0.048971	0	0
HLF	3131	broad.mit.edu	37	17	53398135	53398135	+	Silent	SNP	G	A	A			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr17:53398135G>A	uc002iug.1	+	3	1308	c.783G>A	c.(781-783)gaG>gaA	p.E261E	HLF_uc010dce.1_Silent_p.E176E|HLF_uc002iuh.2_Silent_p.E176E|HLF_uc010wni.1_Silent_p.E208E	NM_002126	NP_002117	Q16534	HLF_HUMAN	Homo sapiens hepatic leukemia factor (HLF), mRNA.	261	Leucine-zipper.				multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(2)	3						CGTTCCTGGAGAAGGAGAACT	0.617000			T	TCF3	ALL									48			23		0	0	0.069288	0	0
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	T	T			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr20:29625934C>T	uc010ztl.1	+	1	120	c.88C>T	c.(88-90)Cat>Tat	p.H30Y	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338000														152			6		0	0	0.069234	0	0
PPIG	9360	broad.mit.edu	37	2	170460568	170460568	+	Missense_Mutation	SNP	A	G	G			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr2:170460568A>G	uc002uez.3	+	2	237	c.17A>G	c.(16-18)cAa>cGa	p.Q6R	PPIG_uc010fpx.3_Missense_Mutation_p.Q6R|PPIG_uc010fpy.3_Intron|PPIG_uc002ufa.3_Missense_Mutation_p.Q6R|PPIG_uc002ufb.3_Missense_Mutation_p.Q6R|PPIG_uc002ufc.1_Missense_Mutation_p.Q6R|PPIG_uc002ufd.3_Missense_Mutation_p.Q6R	NM_004792	NP_004783	Q13427	PPIG_HUMAN	Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	6					RNA splicing|protein folding	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	ATAAAGGTTCAACGTCCTCGA	0.308000														63			37		0	0	0.033182	0	0
MAP3K14	9020	broad.mit.edu	37	17	43351921	43351921	+	Missense_Mutation	SNP	A	G	G			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr17:43351921A>G	uc002iiw.1	-	7	1436	c.1327T>C	c.(1327-1329)Tgt>Cgt	p.C443R	MAP3K14_uc002iiu.1_5'Flank|MAP3K14_uc010daj.1_Non-coding_Transcript|MAP3K14_uc002iiv.1_Missense_Mutation_p.C28R	NM_003954	NP_003945	Q99558	M3K14_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 14 (MAP3K14), mRNA.	444	Interaction with ZFP91.|Protein kinase.				I-kappaB kinase/NF-kappaB cascade|T cell costimulation|cellular response to mechanical stimulus|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AATCCTGCACATGCCATCAGC	0.577000														60			14		0	0	0.020292	0	0
LOC100133050	100133050	broad.mit.edu	37	5	99715417	99715417	+	RNA	SNP	A	G	G			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr5:99715417A>G	uc011cuw.1	-	3		c.493T>C								Homo sapiens glucuronidase, beta pseudogene (LOC100133050), non-coding RNA.																		ACAATCCCATACCGGTAACAT	0.607000														7			2		0	0	0.004672	0	0
MAP3K6	9064	broad.mit.edu	37	1	27682529	27682529	+	Silent	SNP	G	A	A			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr1:27682529G>A	uc001bny.1	-	26	3948	c.3699C>T	c.(3697-3699)ggC>ggT	p.G1233G	MAP3K6_uc009vsw.1_Silent_p.G1225G	NM_004672	NP_004663	O95382	M3K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 6 (MAP3K6), mRNA.	1233			G -> A (in dbSNP:rs17162549).		activation of JUN kinase activity		ATP binding|MAP kinase kinase kinase activity|magnesium ion binding			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTTGGATGGTGCCTGAATCCA	0.552000														40			43		0	0	0.039052	0	0
ABCC12	94160	broad.mit.edu	37	16	48173154	48173154	+	Missense_Mutation	SNP	A	G	G			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr16:48173154A>G	uc002efc.1	-	4	1097	c.751T>C	c.(751-753)Tgt>Cgt	p.C251R	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Missense_Mutation_p.C251R|ABCC12_uc010vgj.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	251	ABC transmembrane type-1 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)				TACGCCGCACAAAAGACCATT	0.483000														150			59		0	0	0.048971	0	0
HDLBP	3069	broad.mit.edu	37	2	242170343	242170343	+	Missense_Mutation	SNP	G	C	C			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr2:242170343G>C	uc002waz.3	-	24	3478	c.3305C>G	c.(3304-3306)aCc>aGc	p.T1102S	HDLBP_uc002wba.3_Missense_Mutation_p.T1102S|HDLBP_uc021vzg.1_Missense_Mutation_p.T1069S	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	1102	KH 13.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	RNA binding|lipid binding|protein binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCCTGTGATGGTAATTTGGTC	0.527000														48			37		0	0	0.074837	0	0
OR2B3	442184	broad.mit.edu	37	6	29054989	29054989	+	Missense_Mutation	SNP	T	G	G	rs139090624		TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr6:29054989T>G	uc003nlx.3	-	0	102	c.37A>C	c.(37-39)Ata>Cta	p.I13L		NM_001005226	NP_001005226			Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA.											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						CCAAGTAGTATAAACTCTTTT	0.373000														54			40		0	0	0.030466	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11859408	11859408	+	Missense_Mutation	SNP	C	A	A			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr16:11859408C>A	uc002dbk.3	-	12	1854	c.1656G>T	c.(1654-1656)aaG>aaT	p.K552N	ZC3H7A_uc002dbj.3_Non-coding_Transcript|ZC3H7A_uc002dbl.3_Missense_Mutation_p.K552N|ZC3H7A_uc002dbm.2_Missense_Mutation_p.K462N	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	Homo sapiens zinc finger CCCH-type containing 7A (ZC3H7A), mRNA.	552						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						TAAGGTTAATCTTTCCATTGC	0.453000														147			67		2.17656e-39	2.44444e-39	0.048971	1	0
DDX55	57696	broad.mit.edu	37	12	124093348	124093348	+	Nonsense_Mutation	SNP	A	T	T			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr12:124093348A>T	uc001ufi.3	+	5	547	c.523A>T	c.(523-525)Aga>Tga	p.R175*	DDX55_uc001ufh.3_Nonsense_Mutation_p.R28*|DDX55_uc001ufj.1_Nonsense_Mutation_p.R28*|DDX55_uc001ufk.3_Nonsense_Mutation_p.R28*	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 (DDX55), mRNA.	175	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		TGAGGCAGACAGACTTCTGGA	0.537000														50			80		0	0	0.048971	0	0
PMEL	6490	broad.mit.edu	37	12	56349929	56349929	+	Silent	SNP	G	A	A			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr12:56349929G>A	uc001sir.3	-	6	2092	c.1429C>T	c.(1429-1431)Ctg>Ttg	p.L477L	PMEL_uc001siq.3_Silent_p.L477L|PMEL_uc010spx.2_Silent_p.L391L|PMEL_uc001sip.3_Silent_p.L477L	NM_006928	NP_008859	P40967	PMEL_HUMAN	Homo sapiens premelanosome protein (PMEL), transcript variant 3, mRNA.	477					melanin biosynthetic process|melanosome organization	Golgi apparatus|endoplasmic reticulum membrane|extracellular region|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TATCGATACAGAACACAATCC	0.557000											OREG0021914	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		71			84		0	0	0.048971	0	0
NIT1	4817	broad.mit.edu	37	1	161090544	161090544	+	Missense_Mutation	SNP	C	A	A			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr1:161090544C>A	uc001fxv.2	+	6	1078	c.973C>A	c.(973-975)Cca>Aca	p.P325T	PFDN2_uc001fxu.3_5'Flank|NIT1_uc001fxw.3_Intron|NIT1_uc010pka.2_Missense_Mutation_p.P310T|NIT1_uc001fxy.2_Missense_Mutation_p.P289T	NM_005600	NP_001172023	Q86X76	NIT1_HUMAN	Homo sapiens nitrilase 1 (NIT1), transcript variant 1, mRNA.	325					nitrogen compound metabolic process	mitochondrion	nitrilase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TCTGGGTCACCCACTGTCTTA	0.567000														37			28		1.16021e-09	1.24552e-09	0.034045	1	0
CYP20A1	57404	broad.mit.edu	37	2	204154489	204154489	+	Splice_Site	SNP	T	C	C			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr2:204154489T>C	uc010zif.2	+	10	1618	c.996_splice	c.e10-1	p.R332_splice	CYP20A1_uc002uzv.4_Splice_Site_p.R324_splice|CYP20A1_uc002uzx.4_Splice_Site_p.R222_splice|CYP20A1_uc002uzy.4_Splice_Site_p.R222_splice|CYP20A1_uc002uzw.4_Splice_Site|CYP20A1_uc010ftw.3_Splice_Site_p.R54_splice	NM_177538	NP_803882	Q6UW02	CP20A_HUMAN	Homo sapiens cytochrome P450, family 20, subfamily A, polypeptide 1 (CYP20A1), mRNA.	324						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						TTAAAACAGATATTGTCAGCA	0.328000														65			51		0	0	0.048971	0	0
RCAN2	10231	broad.mit.edu	37	2	174097114	174097114	+	Missense_Mutation	SNP	G	T	T			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr2:174097114G>T	uc002uhz.3	+	13	1330	c.1130G>T	c.(1129-1131)cGg>cTg	p.R377L	MLK7-AS1_uc002uib.3_Intron	NM_016653	NP_057737	Q14206	RCAN2_HUMAN	Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 1, mRNA.	0					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						ACAGGGAAGCGGCTGCTGCTG	0.428000														95			128		5.22802e-61	6.05786e-61	0.048971	1	0
WDFY3	23001	broad.mit.edu	37	4	85630153	85630153	+	Frame_Shift_Del	DEL	A	-	-			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr4:85630153delA	uc003hpd.3	-	52	8534	c.8126delT	c.(8125-8127)ttgfs	p.L2709fs	WDFY3_uc003hpe.1_Frame_Shift_Del_p.L320fs	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	2709	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAAATGCATCAAATATTGGAA	0.343													---	121	---	---	92	---					
MCCC2	64087	broad.mit.edu	37	5	70931074	70931075	+	Splice_Site	INS	-	TA	TA			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr5:70931074_70931075insTA	uc003kbs.4	+	10	1137	c.999_splice	c.e10+1	p.E333_splice	MCCC2_uc010iyv.1_Splice_Site_p.E333_splice|MCCC2_uc003kbt.4_Splice_Site|MCCC2_uc003kbu.1_Frame_Shift_Ins_p.V203fs	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 2 (beta) (MCCC2), nuclear gene encoding mitochondrial protein, mRNA.	333	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	TGTCCGAGAGGTATGTGAAAGT	0.406													---	66	---	---	48	---					
SLIT3	6586	broad.mit.edu	37	5	168135045	168135045	+	Frame_Shift_Del	DEL	T	-	-			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr5:168135045delT	uc010jjg.3	-	25	3221	c.2801delA	c.(2800-2802)aatfs	p.N934fs	SLIT3_uc003mab.3_Frame_Shift_Del_p.N927fs	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	927	EGF-like 1.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTCCCGTTATTCTTGCACGG	0.592													---	55	---	---	48	---					
ALDOB	229	broad.mit.edu	37	9	104190767	104190770	+	Frame_Shift_Del	DEL	TTTG	-	-			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr9:104190767_104190770delTTTG	uc004bbk.2	-	3	442_445	c.360_363delCAAA	c.(358-363)aacaaafs	p.N120fs		NM_000035	NP_000026	P05062	ALDOB_HUMAN	Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA.	120			Missing (in HFI).		NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TGGTGGTTTCTTTGTTTGTTCCTG	0.402													---	183	---	---	104	---					
SPON1	10418	broad.mit.edu	37	11	14276276	14276277	+	Splice_Site	DEL	GT	-	-			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr11:14276276_14276277delGT	uc001mle.3	+	9	1357	c.1089_splice	c.e9+1	p.E363_splice		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	364	Spondin.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GACCTATGAGGTGTGTGTGTGT	0.594													---	93	---	---	7	---					
PLA2G4F	255189	broad.mit.edu	37	15	42448690	42448690	+	Frame_Shift_Del	DEL	C	-	-			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr15:42448690delC	uc001zoz.3	-	0	150	c.58delG	c.(58-60)gcafs	p.A20fs	PLA2G4F_uc001zpa.3_5'UTR|PLA2G4F_uc010bcr.3_5'UTR|PLA2G4F_uc010bcs.3_5'UTR	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	20					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		AGCAGCACTGCCCCCAGGAGG	0.652													---	6	---	---	4	---					
SPG7	6687	broad.mit.edu	37	16	89613076	89613077	+	Frame_Shift_Ins	INS	-	GATTTTT	GATTTTT			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr16:89613076_89613077insGATTTTT	uc002fnj.3	+	10	1481_1482	c.1460_1461insGATTTTT	c.(1459-1461)gagfs	p.E487fs	SPG7_uc002fnk.1_Non-coding_Transcript	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	Homo sapiens spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	487					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GAGAGGCGGGAGATTTTTGAGC	0.589													---	157	---	---	7	---					
PKN1	5585	broad.mit.edu	37	19	14554306	14554307	+	Frame_Shift_Ins	INS	-	T	T			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr19:14554306_14554307insT	uc002myp.3	+	2	515_516	c.347_348insT	c.(346-348)ggtfs	p.G116fs	PKN1_uc002myq.3_Frame_Shift_Ins_p.G122fs	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	116					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CCTGGTGCGGGTGGCCCCACCT	0.668													---	15	---	---	8	---					
TSIX	9383	broad.mit.edu	37	X	73047124	73047125	+	RNA	DEL	AC	-	-			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chrX:73047124_73047125delAC	uc004ebn.2	+	0		c.35085_35086delAC			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		GCCACACATGACACACACACAC	0.470													---	122	---	---	9	---					
XPNPEP2	7512	broad.mit.edu	37	X	128885748	128885749	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chrX:128885748_128885749delTC	uc004eut.1	+	8	1011_1012	c.767_768delTC	c.(766-768)atcfs	p.I256fs		NM_003399	NP_003390	O43895	XPP2_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound (XPNPEP2), mRNA.	256					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						GCCAGTGACATCCCCTATAACC	0.441													---	49	---	---	234	---					
