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
SLC12A6	9990	broad.mit.edu	37	15	34542930	34542930	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr15:34542930C>T	uc001zhw.3	-	11	1657	c.1493_splice	c.e11-1	p.G498_splice	SLC12A6_uc001zhv.3_Splice_Site_p.G447_splice|SLC12A6_uc001zhz.3_Splice_Site|SLC12A6_uc001zhx.3_Splice_Site_p.G483_splice|SLC12A6_uc001zhy.3_Splice_Site|SLC12A6_uc001zia.3_Splice_Site_p.G439_splice|SLC12A6_uc001zib.3_Splice_Site_p.G489_splice|SLC12A6_uc001zic.3_Splice_Site_p.G498_splice|SLC12A6_uc010bau.3_Splice_Site_p.G498_splice|SLC12A6_uc001zid.3_Splice_Site_p.G439_splice|SLC12A6_uc001zht.3_5'Flank|SLC12A6_uc001zhu.3_Splice_Site_p.G310_splice	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	498					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	AGCCATGATACCTTTAGAGAT	0.403000														35			12		0	0	0.00185496	0	0
GBA3	57733	broad.mit.edu	37	4	22749597	22749597	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr4:22749597G>A	uc003gqp.4	+	2	1056	c.965G>A	c.(964-966)gGa>gAa	p.G322E	GBA3_uc010iep.3_Intron|GBA3_uc011bxo.2_Missense_Mutation_p.G323E	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA.	322					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AACAAGAAAGGAGAACTAGGT	0.383000														18			5		0	0	0.000602214	0	0
ZNF783	100289678	broad.mit.edu	37	7	148978696	148978696	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr7:148978696C>T	uc011kuo.2	+	5	1066	c.903C>T	c.(901-903)atC>atT	p.I301I	AF035281_uc003wfr.4_Intron	NM_001195220	NP_001182149	C9J9J2	C9J9J2_HUMAN	Homo sapiens zinc finger family member 783 (ZNF783), mRNA.	301					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			AGTGTAGAATCCCCCGAGGGC	0.687000														57			14		0	0	0.00185496	0	0
SLC28A1	9154	broad.mit.edu	37	15	85438173	85438173	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr15:85438173C>T	uc002blg.3	+	5	482	c.280C>T	c.(280-282)Ctc>Ttc	p.L94F	SLC28A1_uc010upd.1_Missense_Mutation_p.L16F|SLC28A1_uc010bnb.3_Missense_Mutation_p.L94F|SLC28A1_uc010upe.2_Missense_Mutation_p.L94F|SLC28A1_uc010upf.1_Missense_Mutation_p.L94F|SLC28A1_uc010upg.1_Missense_Mutation_p.L94F|SLC28A1_uc002blf.3_Missense_Mutation_p.L94F	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	94					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCCCCCAGGGCTCTCTGCCTT	0.647000														87			26		0	0	0.00058488	0	0
THEMIS	387357	broad.mit.edu	37	6	128150713	128150713	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr6:128150713G>A	uc011ebt.2	-	2	766	c.617C>T	c.(616-618)tCa>tTa	p.S206L	THEMIS_uc010kfa.3_Missense_Mutation_p.S109L|THEMIS_uc021zfa.1_Missense_Mutation_p.S206L|THEMIS_uc010kfb.3_Missense_Mutation_p.S171L	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	206	CABIT 1.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CCACTTATTTGAAAAATCTGT	0.353000														36			32		0	0	0.00209593	0	0
BTNL8	79908	broad.mit.edu	37	5	180335889	180335889	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr5:180335889C>T	uc003mmp.3	+	1	587	c.353C>T	c.(352-354)tCc>tTc	p.S118F	BTNL8_uc003mmq.3_Missense_Mutation_p.S118F|BTNL8_uc010jll.3_Missense_Mutation_p.S118F|BTNL8_uc011dhg.2_Intron|BTNL8_uc010jlm.3_Intron|BTNL8_uc011dhh.2_5'Flank	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	118	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGATTAGTTCCCAGTCTTAC	0.463000														202			136		0	0	0.000781405	0	0
DPH2	1802	broad.mit.edu	37	1	44436352	44436352	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr1:44436352T>C	uc001ckz.3	+	1	427	c.232T>C	c.(232-234)Ttc>Ctc	p.F78L	DPH2_uc001cla.3_Missense_Mutation_p.F78L|DPH2_uc010okk.2_Silent_p.C17C|DPH2_uc001clb.3_Missense_Mutation_p.F2L	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN	Homo sapiens DPH2 homolog (S. cerevisiae) (DPH2), transcript variant 1, mRNA.	78					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GTCAAAGATGTTCATTCTGGG	0.552000														217			89		0	0	0.000781405	0	0
ZAN	7455	broad.mit.edu	37	7	100350192	100350192	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr7:100350192C>A	uc003uwj.3	+	13	2629	c.2464C>A	c.(2464-2466)Ccc>Acc	p.P822T	ZAN_uc003uwk.3_Missense_Mutation_p.P822T|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	822	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CATGGAAAAACCCACTCTCCC	0.512000														115			12		2.62699e-14	1.5338e-13	0.000308642	1	0
SCN4A	6329	broad.mit.edu	37	17	62020202	62020202	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr17:62020202G>A	uc002jds.1	-	22	4349	c.4272C>T	c.(4270-4272)gtC>gtT	p.V1424V		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1424					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.V1424V(2)		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)	TGGACAGGATGACGACCACGA	0.602000														38			8		0	0	0.000274275	0	0
ISM2	145501	broad.mit.edu	37	14	77951247	77951247	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr14:77951247C>T	uc001xtz.3	-	1	231	c.157G>A	c.(157-159)Gat>Aat	p.D53N	ISM2_uc001xua.3_Missense_Mutation_p.D53N|ISM2_uc001xty.3_5'UTR	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA.	53						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GGCCTAGGATCTGGGGAGGCT	0.607000														80			39		0	0	0.000680045	0	0
NCKAP5	344148	broad.mit.edu	37	2	133539526	133539526	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr2:133539526C>T	uc002ttp.3	-	13	5232	c.4858G>A	c.(4858-4860)Gaa>Aaa	p.E1620K	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1620							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTCAAGAGTTCCGTCATGAAG	0.448000														65			46		0	0	0.000781405	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51920407	51920407	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr19:51920407A>G	uc002pwo.3	-	1	572	c.350T>C	c.(349-351)tTc>tCc	p.F117S	SIGLEC10_uc002pwp.3_Missense_Mutation_p.F117S|SIGLEC10_uc021uyl.1_Missense_Mutation_p.F117S|SIGLEC10_uc002pwq.3_Missense_Mutation_p.F117S|SIGLEC10_uc010ycz.2_Missense_Mutation_p.F117S|SIGLEC10_uc002pws.2_Missense_Mutation_p.F117S|SIGLEC10_uc002pwr.3_Missense_Mutation_p.F117S|SIGLEC10_uc010ycy.2_Missense_Mutation_p.F117S|SIGLEC10_uc010eow.3_Intron|LOC100129083_uc021uym.1_Non-coding_Transcript	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	117	Ig-like V-type.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CACCCGAAAGAAGTACTGTGA	0.527000														52			25		0	0	0.00047179	0	0
KRT34	3885	broad.mit.edu	37	17	39537356	39537356	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr17:39537356C>T	uc002hwm.3	-	2	678	c.666G>A	c.(664-666)gtG>gtA	p.V222V		NM_021013	NP_066293	O76011	KRT34_HUMAN	Homo sapiens keratin 34 (KRT34), mRNA.	222	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				TCAGGGACTCCACCTGGGACT	0.537000														110			15		0	0	0.00074312	0	0
ERN2	10595	broad.mit.edu	37	16	23702489	23702489	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr16:23702489C>T	uc002dma.4	-	20	2842	c.2673G>A	c.(2671-2673)ggG>ggA	p.G891G	ERN2_uc010bxp.3_Silent_p.G839G	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	843	KEN.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GCACTGATGTCCCCTTATAGG	0.617000														103			43		0	0	0.000781405	0	0
SCN9A	6335	broad.mit.edu	37	2	167162385	167162385	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr2:167162385G>A	uc010fpl.3	-	4	854	c.513C>T	c.(511-513)atC>atT	p.I171I	SCN9A_uc002udr.1_Silent_p.I42I|SCN9A_uc002uds.1_Silent_p.I42I|SCN9A_uc002udt.1_Silent_p.I42I	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	171						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CTCTTGCAAGGATTTTTACAA	0.378000														45			16		0	0	0.000308642	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994657	140994657	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chrX:140994657C>T	uc004fbt.3	+	3	1791	c.1467C>T	c.(1465-1467)tcC>tcT	p.S489S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.S148S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	489							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCTCCTCCACTTTATTGA	0.493000										HNSCC(15;0.026)				137			60		0	0	0.000781405	0	0
SLC13A2	9058	broad.mit.edu	37	17	26818751	26818751	+	Silent	SNP	C	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr17:26818751C>A	uc010wan.2	+	5	973	c.906C>A	c.(904-906)ctC>ctA	p.L302L	SLC13A2_uc010wal.1_Silent_p.L210L|SLC13A2_uc010wam.2_Silent_p.L209L|SLC13A2_uc002hbh.3_Silent_p.L253L|SLC13A2_uc010wao.2_Silent_p.L210L|SLC13A2_uc002hbi.3_Silent_p.L182L	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	253						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCTTCAGGCTCTTCCCCCAAA	0.602000														70			15		6.72482e-11	3.91748e-10	0.000308642	1	0
ATOH7	220202	broad.mit.edu	37	10	69991054	69991054	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr10:69991054C>T	uc001jnq.3	-	0	817	c.381G>A	c.(379-381)gcG>gcA	p.A127A		NM_145178	NP_660161	Q8N100	ATOH7_HUMAN	Homo sapiens atonal homolog 7 (Drosophila) (ATOH7), mRNA.	127					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding										CCGGCAGCTTCGCGCCCGGGA	0.706000														23			6		0	0	0.00198382	0	0
EN2	2020	broad.mit.edu	37	7	155255099	155255099	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr7:155255099C>T	uc003wmb.3	+	1	968	c.719C>T	c.(718-720)cCg>cTg	p.P240L		NM_001427	NP_001418	P19622	HME2_HUMAN	Homo sapiens engrailed homeobox 2 (EN2), mRNA.	240						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGAAGAACCCGAACAAAGAG	0.597000														80			10		0	0	0.000442599	0	0
CHGB	1114	broad.mit.edu	37	20	5903925	5903925	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr20:5903925G>A	uc002wmg.3	+	3	1441	c.1135G>A	c.(1135-1137)Gag>Aag	p.E379K	CHGB_uc010zqz.2_Missense_Mutation_p.E62K	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	379						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						TCAGAGTGAGGAGAGTTGGGA	0.532000														59			19		0	0	0.00152264	0	0
TOM1L2	146691	broad.mit.edu	37	17	17797059	17797059	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr17:17797059G>A	uc002grz.4	-	3	439	c.282C>T	c.(280-282)ttC>ttT	p.F94F	TOM1L2_uc002gry.4_Intron|TOM1L2_uc010vwy.2_Silent_p.F94F|TOM1L2_uc010cpr.3_Silent_p.F94F|TOM1L2_uc010vwz.2_Intron|TOM1L2_uc010vxa.2_Silent_p.F94F|TOM1L2_uc010vxb.2_Intron	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN	Homo sapiens target of myb1-like 2 (chicken) (TOM1L2), transcript variant 3, mRNA.	94	VHS.				intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					CACTGTCGATGAAATCTCGGT	0.517000														65			12		0	0	0.00185496	0	0
UBE2J2	118424	broad.mit.edu	37	1	1203265	1203266	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr1:1203265_1203266GG>AA	uc001adp.3	-	1	296_297	c.107_108CC>TT	c.(106-108)ccc>cTT	p.P36L	UBE2J2_uc001adm.3_5'UTR|UBE2J2_uc001ado.3_Missense_Mutation_p.P36L|UBE2J2_uc001adq.3_5'UTR|UBE2J2_uc001adr.3_Intron	NM_058167	NP_919440	Q8N2K1	UB2J2_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2, J2 (UBE2J2), transcript variant 2, mRNA.	36					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity			cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		TCGAAGGGAGGGGCTCGGCACA	0.629000														170			82		0	0	6.4e-05	0	0
C6orf10	10665	broad.mit.edu	37	6	32261009	32261009	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr6:32261009G>A	uc021yvt.1	-	22	1614	c.1441C>T	c.(1441-1443)Cta>Tta	p.L481L	C6orf10_uc011dpx.2_Intron|C6orf10_uc021yvs.1_Silent_p.L398L|C6orf10_uc011dpz.2_Silent_p.L479L|C6orf10_uc021yvu.1_Silent_p.L479L|C6orf10_uc021yvv.1_Silent_p.L465L	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA.	481	Lys-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TGTCCTTTTAGTACACCTGAC	0.403000														51			13		0	0	0.000566183	0	0
ZNF596	169270	broad.mit.edu	37	8	195562	195562	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr8:195562C>T	uc003wot.3	+	5	1003	c.715C>T	c.(715-717)Cga>Tga	p.R239*	ZNF596_uc003wou.3_Nonsense_Mutation_p.R138*|ZNF596_uc003wov.3_Nonsense_Mutation_p.R239*|ZNF596_uc003wow.3_Nonsense_Mutation_p.R239*	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	Homo sapiens zinc finger protein 596 (ZNF596), transcript variant 3, mRNA.	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L238I(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		CTCTGATCTTCGAAAACATGA	0.413000														23			6		0	0	0.00116845	0	0
NCR3	259197	broad.mit.edu	37	6	31557860	31557860	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr6:31557860G>A	uc003nuv.2	-	1	351	c.87C>T	c.(85-87)acC>acT	p.T29T	NCR3_uc003nuw.2_Silent_p.T29T|NCR3_uc003nux.1_Silent_p.T29T	NM_147130	NP_667341	O14931	NCTR3_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 3 (NCR3), transcript variant 1, mRNA.	29	Ig-like.				cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane	receptor activity			cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						ATCCTTCCAGGGTACGAATCT	0.577000														72			28		0	0	0.00178596	0	0
OR1E1	8387	broad.mit.edu	37	17	3301419	3301419	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr17:3301419C>T	uc002fvj.1	-	0	286	c.286G>A	c.(286-288)Gac>Aac	p.D96N		NM_003553	NP_003544	P30953	OR1E1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily E, member 1 (OR1E1), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						GTCAGGCAGTCCGCATAGGGG	0.522000														26			16		0	0	0.000566183	0	0
EYA1	2138	broad.mit.edu	37	8	72184096	72184096	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr8:72184096T>C	uc003xyu.3	-	9	1503	c.863A>G	c.(862-864)aAa>aGa	p.K288R	EYA1_uc003xyt.4_Missense_Mutation_p.K255R|EYA1_uc003xyr.4_Missense_Mutation_p.K283R|EYA1_uc010lzf.3_Missense_Mutation_p.K215R|EYA1_uc003xys.4_Missense_Mutation_p.K288R|EYA1_uc011lfe.2_Missense_Mutation_p.K282R|EYA1_uc003xyv.3_Missense_Mutation_p.K166R	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	288					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			ATCTGAATCTTTAATGGGTGT	0.453000														68			33		0	0	0.00111076	0	0
TMEM56	148534	broad.mit.edu	37	1	95616880	95616880	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr1:95616880G>A	uc021oqe.1	+	5	681	c.305_splice	c.e5-1	p.D102_splice	TMEM56_uc001drd.4_Splice_Site_p.D102_splice|TMEM56_uc001drb.3_Splice_Site_p.D102_splice	NM_001199679	NP_001186608	Q96MV1	TMM56_HUMAN	Homo sapiens transmembrane protein 56 (TMEM56), transcript variant 1, mRNA.	102	TLC.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		CTTTCTTACAGATTTGTCCAT	0.348000														13			7		0	0	0.000157383	0	0
ZNF610	162963	broad.mit.edu	37	19	52869869	52869869	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr19:52869869T>C	uc002pyx.4	+	5	1644	c.1238T>C	c.(1237-1239)tTa>tCa	p.L413S	ZNF610_uc002pyy.4_Missense_Mutation_p.L413S|ZNF610_uc002pyz.4_Missense_Mutation_p.L370S|ZNF610_uc002pza.3_Missense_Mutation_p.L413S	NM_001161426	NP_775801	Q8N9Z0	ZN610_HUMAN	Homo sapiens zinc finger protein 610 (ZNF610), transcript variant 2, mRNA.	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GGGCGCAAATTATACCTAACC	0.423000														34			14		0	0	0.000308642	0	0
MXRA5	25878	broad.mit.edu	37	X	3242878	3242878	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chrX:3242878G>A	uc004crg.4	-	4	1005	c.848C>T	c.(847-849)cCt>cTt	p.P283L		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	283						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGTCTCAGAGGGGACTCTAT	0.493000														80			39		0	0	0.000781405	0	0
COL4A1	1282	broad.mit.edu	37	13	110838777	110838777	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr13:110838777C>T	uc001vqw.4	-	25	1974	c.1852G>A	c.(1852-1854)Gga>Aga	p.G618R		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	618	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTGCTTGTCCTTTGTCACCA	0.617000														90			19		0	0	0.00074312	0	0
OR51I2	390064	broad.mit.edu	37	11	5475540	5475540	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr11:5475540C>T	uc010qzf.2	+	0	903	c.822C>T	c.(820-822)gtC>gtT	p.V274V	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 2 (OR51I2), mRNA.	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATACATGTCCTCATGTCAA	0.478000														96			23		0	0	0.000720815	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872316	51872316	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr20:51872316G>A	uc002xwo.3	+	1	3206	c.2319G>A	c.(2317-2319)aaG>aaA	p.K773K	TSHZ2_uc021wex.1_Silent_p.K770K	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	773					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K773K(2)|p.S772G(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CCAAAAGCAAGAAAGCCGAGT	0.557000														108			32		0	0	0.00058488	0	0
AKAP13	11214	broad.mit.edu	37	15	86259042	86259042	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr15:86259042C>T	uc002blv.1	+	19	5793	c.5623C>T	c.(5623-5625)Cgg>Tgg	p.R1875W	AKAP13_uc002blu.1_Missense_Mutation_p.R1879W|AKAP13_uc010bnf.1_Missense_Mutation_p.R496W|AKAP13_uc002blw.1_Missense_Mutation_p.R342W|AKAP13_uc002blx.1_Missense_Mutation_p.R120W	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	1875					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGAGCGTCCTCGGTCCGCAGT	0.532000														47			14		0	0	0.00185496	0	0
DKK2	27123	broad.mit.edu	37	4	107845320	107845320	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr4:107845320C>T	uc003hyi.3	-	3	1276	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K	DKK2_uc003hyj.1_3'UTR	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	191	DKK-type Cys-2.				Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CAAAACCCTTCAATGCAGTCT	0.458000														24			10		0	0	0.000442599	0	0
WDR3	10885	broad.mit.edu	37	1	118499811	118499811	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr1:118499811C>T	uc010oxe.1	+	24	2640	c.2574C>T	c.(2572-2574)ttC>ttT	p.F858F	WDR3_uc001ehi.2_Intron|SPAG17_uc001ehk.2_Intron	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	Homo sapiens WD repeat domain 3 (WDR3), mRNA.	858						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		GCCTCTTCTTCCTCCTTAGGT	0.413000														66			10		0	0	0.00185496	0	0
NFATC4	4776	broad.mit.edu	37	14	24842431	24842431	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr14:24842431G>A	uc001wpc.3	+	3	1735	c.1414G>A	c.(1414-1416)Gat>Aat	p.D472N	NFATC4_uc010alr.3_Missense_Mutation_p.D535N|NFATC4_uc010tok.2_Missense_Mutation_p.D535N|NFATC4_uc010tol.2_Missense_Mutation_p.D535N|NFATC4_uc010als.2_Missense_Mutation_p.D485N|NFATC4_uc010too.2_Missense_Mutation_p.D485N|NFATC4_uc010tom.2_Missense_Mutation_p.D485N|NFATC4_uc010ton.2_Missense_Mutation_p.D485N|NFATC4_uc010toq.2_Missense_Mutation_p.D504N|NFATC4_uc010alt.3_Missense_Mutation_p.D504N|NFATC4_uc010top.2_Missense_Mutation_p.D504N|NFATC4_uc010alu.3_Missense_Mutation_p.D164N|NFATC4_uc010tor.2_Missense_Mutation_p.D472N|NFATC4_uc010tos.2_Missense_Mutation_p.D402N|NFATC4_uc010tot.2_Missense_Mutation_p.D460N|NFATC4_uc010tou.2_Missense_Mutation_p.D402N|NFATC4_uc010tov.2_Missense_Mutation_p.D460N|NFATC4_uc010tow.2_Missense_Mutation_p.D402N|NFATC4_uc010alv.3_Missense_Mutation_p.D460N|NFATC4_uc010tox.2_Missense_Mutation_p.D402N|NFATC4_uc001wpd.3_Missense_Mutation_p.D7N|NFATC4_uc010toy.2_Missense_Mutation_p.D7N|NFATC4_uc010toz.2_Missense_Mutation_p.D7N|NFATC4_uc010tpa.2_5'Flank|NFATC4_uc010tpb.2_5'Flank	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	472	RHD.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CGGCACTGCAGATGAAAGGAA	0.567000														58			44		0	0	0.000781405	0	0
SERINC3	10955	broad.mit.edu	37	20	43138550	43138550	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr20:43138550G>A	uc002xme.3	-	4	729	c.595C>T	c.(595-597)Cca>Tca	p.P199S	SERINC3_uc002xmf.1_Missense_Mutation_p.P199S|SERINC3_uc010ggs.1_Missense_Mutation_p.P192S|SERINC3_uc010zwp.1_Missense_Mutation_p.P144S	NM_198941	NP_945179	Q13530	SERC3_HUMAN	Homo sapiens serine incorporator 3 (SERINC3), transcript variant 2, mRNA.	199						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			CACAACCTTGGGTTTCCTTCT	0.443000														55			49		0	0	0.000781405	0	0
ACTC1	70	broad.mit.edu	37	15	35084474	35084474	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr15:35084474C>T	uc001ziu.1	-	4	868	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	AK092087_uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA.	209					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	I band|actomyosin, actin part|cytosol	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CGGACAATTTCACGTTCAGCT	0.468000														33			19		0	0	0.00188189	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140262123	140262123	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr5:140262123C>T	uc003lif.2	+	0	270	c.270C>T	c.(268-270)atC>atT	p.I90I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.I90I|PCDHAC2_uc003lid.3_Silent_p.I90I	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	105	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTCGGATCGACCGCGAGG	0.592000														126			74		0	0	0.000781405	0	0
ZFP42	132625	broad.mit.edu	37	4	188924832	188924832	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr4:188924832A>G	uc003izh.1	+	3	1279	c.871A>G	c.(871-873)Aac>Gac	p.N291D	ZFP42_uc003izi.1_Missense_Mutation_p.N291D|ZFP42_uc021xvm.1_Missense_Mutation_p.N291D	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	291					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TCAGTCAAATAACCTGAAAGC	0.458000														80			31		0	0	0.00111076	0	0
TM7SF2	7108	broad.mit.edu	37	11	64883442	64883442	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr11:64883442C>T	uc001ocv.3	+	7	1834	c.1237C>T	c.(1237-1239)Cgg>Tgg	p.R413W	TM7SF2_uc001oct.3_Missense_Mutation_p.R392W|TM7SF2_uc010rny.2_Missense_Mutation_p.R276W|TM7SF2_uc001ocu.3_Missense_Mutation_p.R365W|BC104003_uc009yqb.1_5'Flank	NM_003273	NP_003264	O76062	ERG24_HUMAN	Homo sapiens transmembrane 7 superfamily member 2 (TM7SF2), mRNA.	392					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCGGGATGAGCGGCAGTGCCT	0.627000														17			10		0	0	0.000673444	0	0
PRR12	57479	broad.mit.edu	37	19	50105142	50105142	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr19:50105142C>T	uc002poo.4	+	5	4740	c.4740C>T	c.(4738-4740)ttC>ttT	p.F1580F		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	759							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGGACGAGTTCGTCATCCGTG	0.612000														38			6		0	0	0.00116845	0	0
TAF8	129685	broad.mit.edu	37	6	42025228	42025228	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr6:42025228C>T	uc003ort.3	+	4	495	c.466C>T	c.(466-468)Ccc>Tcc	p.P156S	TAF8_uc003orr.3_Missense_Mutation_p.P156S|TAF8_uc003ors.3_Missense_Mutation_p.P156S|TAF8_uc003oru.1_Missense_Mutation_p.P156S|TAF8_uc003orv.1_Missense_Mutation_p.P156S|TAF8_uc011dun.2_Missense_Mutation_p.P93S			Q7Z7C8	TAF8_HUMAN	Homo sapiens TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa (TAF8), mRNA.	156					cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent	perinuclear region of cytoplasm|transcription factor TFIID complex	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			GTTCCCTGATCCCCACACCTA	0.592000														38			10		0	0	0.000978159	0	0
SPOP	8405	broad.mit.edu	37	17	47684678	47684678	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr17:47684678G>A	uc002ipg.3	-	7	1068	c.771C>T	c.(769-771)ttC>ttT	p.F257F	SPOP_uc010dbk.3_Silent_p.F257F|SPOP_uc002ipb.3_Silent_p.F257F|SPOP_uc002ipc.3_Silent_p.F257F|SPOP_uc002ipd.3_Silent_p.F257F|SPOP_uc002ipe.3_Silent_p.F257F|SPOP_uc002ipf.3_Silent_p.F257F	NM_001007228	NP_003554	O43791	SPOP_HUMAN	Homo sapiens speckle-type POZ protein (SPOP), transcript variant 4, mRNA.	257	BTB.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CCGTGTAAATGAAGCACATCA	0.393000										Prostate(2;0.17)				20			18		0	0	0.00121646	0	0
TONSL	4796	broad.mit.edu	37	8	145659413	145659413	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr8:145659413G>T	uc011llg.2	-	20	3350	c.3335C>A	c.(3334-3336)cCc>cAc	p.P1112H	AK298596_uc011llh.1_5'Flank	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	Homo sapiens tonsoku-like, DNA repair protein (TONSL), mRNA.	1112					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CAGGCCTTCGGGACCCAGGTG	0.662000														35			10		6.40141e-05	0.000371224	0.000978159	1	0
SLC6A13	6540	broad.mit.edu	37	12	369146	369146	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr12:369146C>T	uc001qic.2	-	1	163	c.73G>A	c.(73-75)Gag>Aag	p.E25K	SLC6A13_uc009zdj.2_Missense_Mutation_p.E25K|SLC6A13_uc010sdl.2_Missense_Mutation_p.E25K|SLC6A13_uc001qid.2_Missense_Mutation_p.E25K	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	25				Missing (in Ref. 1; AAF64247).	neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CCATCTTCCTCCTTCTTTTCC	0.522000														90			24		0	0	0.000878237	0	0
KCNH5	27133	broad.mit.edu	37	14	63473091	63473091	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr14:63473091C>T	uc001xfx.3	-	2	348	c.297G>A	c.(295-297)aaG>aaA	p.K99K	KCNH5_uc001xfy.3_Silent_p.K99K|KCNH5_uc001xfz.1_Silent_p.K41K|KCNH5_uc001xga.3_Silent_p.K41K	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	99	PAC.				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.K99N(2)|p.Y98*(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TACTGTTTTTCTTGTACAGAA	0.338000														13			5		0	0	0.00198382	0	0
HENMT1	113802	broad.mit.edu	37	1	109191350	109191350	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr1:109191350G>A	uc001dvt.4	-	7	1258	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F	HENMT1_uc001dvu.4_Silent_p.F340F|HENMT1_uc009wer.3_3'UTR	NM_001102592	NP_653185	Q5T8I9	HENMT_HUMAN	Homo sapiens HEN1 methyltransferase homolog 1 (Arabidopsis) (HENMT1), transcript variant 2, mRNA.	340					gene silencing by RNA|piRNA metabolic process	P granule	O-methyltransferase activity|RNA binding|RNA methyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						GCAGAGGTACGAAAAATTTAT	0.473000														71			9		0	0	0.000673444	0	0
OFD1	8481	broad.mit.edu	37	X	13757012	13757012	+	Silent	SNP	T	C	C			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chrX:13757012T>C	uc004cvp.4	+	3	719	c.360T>C	c.(358-360)acT>acC	p.T120T	OFD1_uc004cvr.4_5'UTR|OFD1_uc011mil.2_5'UTR|OFD1_uc004cvq.4_5'UTR|OFD1_uc010nen.3_Silent_p.T119T|OFD1_uc004cvs.4_Non-coding_Transcript|OFD1_uc004cvu.4_Silent_p.T119T|OFD1_uc004cvv.4_Silent_p.T119T	NM_003611	NP_003602	O75665	OFD1_HUMAN	Homo sapiens oral-facial-digital syndrome 1 (OFD1), mRNA.	120					G2/M transition of mitotic cell cycle|cilium movement involved in determination of left/right asymmetry	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TCAACCCTACTTCCAGTCTCT	0.279000														151			31		0	0	0.000953801	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004478	75004478	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chrX:75004478C>T	uc004ecj.2	-	0	602	c.409G>A	c.(409-411)Gac>Aac	p.D137N		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	137	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAGACCTGGTCCAGGTGAGCT	0.522000														8			5		0	0	0.000602214	0	0
PPP2R2B	5521	broad.mit.edu	37	5	145979880	145979880	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr5:145979880C>T	uc011dbv.2	-	8	1371	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K	PPP2R2B_uc010jgm.3_Missense_Mutation_p.E301K|PPP2R2B_uc003loe.3_Missense_Mutation_p.E312K|PPP2R2B_uc003log.4_Missense_Mutation_p.E312K|PPP2R2B_uc003lof.4_Missense_Mutation_p.E312K|PPP2R2B_uc003loi.4_Missense_Mutation_p.E315K|PPP2R2B_uc003loh.4_Missense_Mutation_p.E312K|PPP2R2B_uc003lok.4_Missense_Mutation_p.E301K|PPP2R2B_uc003loj.4_Missense_Mutation_p.E292K|PPP2R2B_uc011dbu.2_Missense_Mutation_p.E318K	NM_181675	NP_858061	Q00005	2ABB_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, beta (PPP2R2B), transcript variant 3, mRNA.	312					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCGGTTTTCCATGTTGAGA	0.468000														29			14		0	0	0.000308642	0	0
RADIL	55698	broad.mit.edu	37	7	4841434	4841435	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr7:4841434_4841435CC>TT	uc003snj.1	-	11	2864_2865	c.2691_2692GG>AA	c.(2689-2694)acggac>acAAac	p.D898N	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc003sni.1_Missense_Mutation_p.D403N|RADIL_uc011jwc.1_Missense_Mutation_p.D658N|RADIL_uc011jwd.1_Non-coding_Transcript|RADIL_uc003snh.1_Missense_Mutation_p.D194N	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Homo sapiens Ras association and DIL domains (RADIL), mRNA.	898	Pro-rich.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CAGGACGAGTCCGTGTGCGGGG	0.723000														16			10		0	0	6.4e-05	0	0
RASSF9	9182	broad.mit.edu	37	12	86198613	86198613	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr12:86198613C>T	uc001taf.1	-	1	1514	c.1175G>A	c.(1174-1176)gGg>gAg	p.G392E		NM_005447	NP_005438	O75901	RASF9_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA.	392					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGGAATCTCCCCATTGCTACT	0.443000														135			37		0	0	0.00148497	0	0
RANGAP1	5905	broad.mit.edu	37	22	41660752	41660752	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr22:41660752G>A	uc003azs.3	-	3	1866	c.396C>T	c.(394-396)ttC>ttT	p.F132F	RANGAP1_uc003azt.3_Silent_p.F132F|RANGAP1_uc003azu.3_Silent_p.F132F|RANGAP1_uc011aoz.2_Silent_p.F122F	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA.	132					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	Ran GTPase activator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCAGGGCCTCGAAGCCTTGCA	0.617000														51			9		0	0	0.000274275	0	0
KIF24	347240	broad.mit.edu	37	9	34256461	34256461	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr9:34256461G>A	uc003zua.4	-	10	3264	c.3144C>T	c.(3142-3144)ctC>ctT	p.L1048L	KIF24_uc010mkb.3_Intron	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	Homo sapiens kinesin family member 24 (KIF24), mRNA.	1048					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			GGGGAGACATGAGTCCAGAAG	0.582000														34			34		0	0	0.00128727	0	0
BDP1	55814	broad.mit.edu	37	5	70793195	70793195	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr5:70793195C>T	uc003kbp.1	+	12	2161	c.1898C>T	c.(1897-1899)tCa>tTa	p.S633L	BDP1_uc003kbn.1_Missense_Mutation_p.S633L|BDP1_uc003kbo.3_Missense_Mutation_p.S633L	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	633					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TCAGTTCTTTCACAAGGCAAA	0.353000														38			24		0	0	0.00106085	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713603	70713603	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr14:70713603C>T	uc010ttg.2	-	0	916	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		TTCCAAATTTCAATTCCAATC	0.363000														48			20		0	0	0.000958276	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841477	8841477	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr19:8841477C>T	uc010xkg.2	+	0	87	c.87C>T	c.(85-87)tcC>tcT	p.S29S		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCTCTTCTCCCTGGTGGCTG	0.537000														25			17		0	0	0.00074312	0	0
OR2T4	127074	broad.mit.edu	37	1	248525516	248525516	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr1:248525516G>A	uc001ieh.1	+	0	634	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTCTTCTGTGAAGTTCCTGC	0.502000														23			25		0	0	0.00047179	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996016	19996016	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr18:19996016C>T	uc002ktv.1	-	0	1863	c.1759G>A	c.(1759-1761)Gct>Act	p.A587T		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	587						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGAGGGAGAGCTGAATCAGGA	0.473000														42			21		0	0	0.00229938	0	0
ZZEF1	23140	broad.mit.edu	37	17	3954306	3954306	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr17:3954306G>A	uc002fxe.3	-	35	5696	c.5632C>T	c.(5632-5634)Cca>Tca	p.P1878S	ZZEF1_uc002fxh.3_Missense_Mutation_p.P192S|ZZEF1_uc002fxi.3_Missense_Mutation_p.P113S|ZZEF1_uc002fxj.1_Missense_Mutation_p.P491S	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	1878							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GTTACCATTGGGTGGGCCGTG	0.517000														101			14		0	0	0.000422831	0	0
MUC16	94025	broad.mit.edu	37	19	9072100	9072100	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr19:9072100C>T	uc002mkp.3	-	2	15550	c.15346G>A	c.(15346-15348)Gaa>Aaa	p.E5116K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5118	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAAAATTTCCTTTGTGTCT	0.443000														29			4		0	0	0.00024832	0	0
NAP1L2	4674	broad.mit.edu	37	X	72434266	72434266	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chrX:72434266C>T	uc004ebi.3	-	0	445	c.63G>A	c.(61-63)caG>caA	p.Q21Q		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	21					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CCACCATTATCTGATTACCAG	0.567000														81			40		0	0	0.00285205	0	0
PRKCZ	5590	broad.mit.edu	37	1	2103786	2103786	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr1:2103786C>T	uc001aiq.3	+	12	1405	c.1244C>T	c.(1243-1245)cCg>cTg	p.P415L	PRKCZ_uc001air.3_Missense_Mutation_p.P232L|PRKCZ_uc010nyw.2_Missense_Mutation_p.P311L|PRKCZ_uc001ais.3_Missense_Mutation_p.P232L|PRKCZ_uc010nyx.2_Non-coding_Transcript|PRKCZ_uc001ait.3_Missense_Mutation_p.P263L	NM_002744	NP_001028754	Q05513	KPCZ_HUMAN	Homo sapiens protein kinase C, zeta (PRKCZ), transcript variant 1, mRNA.	415	Protein kinase.				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		TGCGGAACCCCGAATTACATC	0.637000														14			8		0	0	0.000673444	0	0
DSCAM	1826	broad.mit.edu	37	21	41414391	41414391	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr21:41414391C>T	uc002yyq.1	-	31	6045	c.5593G>A	c.(5593-5595)Gaa>Aaa	p.E1865K	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1865					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E1865K(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATTCCCGATTCGGAAGGGGTG	0.537000														78			19		0	0	0.000958276	0	0
KDR	3791	broad.mit.edu	37	4	55956220	55956220	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr4:55956220C>T	uc003has.3	-	22	3397	c.3095G>A	c.(3094-3096)cGa>cAa	p.R1032Q	KDR_uc003hat.1_Missense_Mutation_p.R1032Q	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1032	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.R1032Q(4)|p.R1032*(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GAGGATATTTCGTGCCGCCAG	0.448000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				24			12		0	0	0.000308642	0	0
DOCK11	139818	broad.mit.edu	37	X	117749610	117749610	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chrX:117749610C>T	uc004eqp.2	+	29	3291	c.3228C>T	c.(3226-3228)caC>caT	p.H1076H	DOCK11_uc004eqq.2_Silent_p.H842H	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	1076					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TTTGCAATCACGAACATTACA	0.353000														16			9		0	0	0.000978159	0	0
SLC9C1	285335	broad.mit.edu	37	3	111950327	111950327	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr3:111950327C>T	uc003dyu.3	-	12	1675	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	SLC9C1_uc011bhu.2_5'UTR|SLC9C1_uc010hqc.3_Missense_Mutation_p.E437K	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	485					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										GTTTCTTCTTCGTTCAACTAA	0.333000														7			6		0	0	0.00116845	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255119	15255119	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr10:15255119C>T	uc001iob.3	-	7	2475	c.2468G>A	c.(2467-2469)aGa>aAa	p.R823K		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	823						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GCCACCACTTCTCCGACTCGA	0.642000														64			25		0	0	0.00047179	0	0
DIDO1	11083	broad.mit.edu	37	20	61511484	61511484	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr20:61511484G>A	uc002ydr.2	-	15	6136	c.5824C>T	c.(5824-5826)Ccc>Tcc	p.P1942S	DIDO1_uc002yds.2_Missense_Mutation_p.P1942S	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1942	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AACTGGTTGGGATGAGGGCCC	0.587000														162			49		0	0	0.000781405	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768230	77768230	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr8:77768230C>T	uc003yau.2	+	9	9460	c.9073C>T	c.(9073-9075)Cac>Tac	p.H3025Y	ZFHX4_uc003yaw.1_Missense_Mutation_p.H2980Y	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2980						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CATCAGAGATCACATTTTCTC	0.527000										HNSCC(33;0.089)				15			5		0	0	0.000602214	0	0
C1GALT1C1	29071	broad.mit.edu	37	X	119760874	119760874	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chrX:119760874C>T	uc022cdo.1	-	0	148	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	C1GALT1C1_uc004esy.3_Missense_Mutation_p.E50K|C1GALT1C1_uc004esz.3_Missense_Mutation_p.E50K	NM_152692	NP_689905	Q96EU7	C1GLC_HUMAN	Homo sapiens C1GALT1-specific chaperone 1 (C1GALT1C1), transcript variant 1, mRNA.	50						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						AAGATATCTTCTTTGTTAGGA	0.398000														160			26		0	0	0.000878237	0	0
PLIN4	729359	broad.mit.edu	37	19	4511995	4511995	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr19:4511995G>A	uc002mar.1	-	2	1935	c.1935C>T	c.(1933-1935)atC>atT	p.I645I	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	645	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane		p.D645N(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TACCTGTCGCGATATTTTGGG	0.572000														62			35		0	0	0.00283554	0	0
CYB5R1	51706	broad.mit.edu	37	1	202934534	202934534	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr1:202934534C>A	uc001gyt.2	-	4	511	c.440G>T	c.(439-441)cGg>cTg	p.R147L	CYB5R1_uc010pqe.1_Non-coding_Transcript	NM_016243	NP_057327	Q9UHQ9	NB5R1_HUMAN	Homo sapiens cytochrome b5 reductase 1 (CYB5R1), mRNA.	147	FAD-binding FR-type.				sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)			GCTTGGCCCCCGAAACTCCAC	0.522000														194			10		0.000673444	0.00387042	0.000673444	1	0
OR9Q1	219956	broad.mit.edu	37	11	57947716	57947716	+	Missense_Mutation	SNP	C	T	T	rs142831243		TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr11:57947716C>T	uc021qjm.1	+	0	800	c.800C>T	c.(799-801)tCg>tTg	p.S267L	OR9Q1_uc001nmj.3_Missense_Mutation_p.S267L	NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 1 (OR9Q1), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				GATCAGTCTTCGGAGAAGAAT	0.512000														15			4		0	0	0.00024832	0	0
NAALAD2	10003	broad.mit.edu	37	11	89891349	89891349	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr11:89891349G>A	uc001pdf.4	+	6	942	c.833G>A	c.(832-834)gGa>gAa	p.G278E	NAALAD2_uc009yvx.3_Missense_Mutation_p.G278E|NAALAD2_uc009yvy.3_Intron|NAALAD2_uc001pdd.2_Missense_Mutation_p.G278E|NAALAD2_uc001pde.3_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	278	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GAAGGAGTGGGAATCCCCCGA	0.318000														72			17		0	0	0.00152264	0	0
METRNL	284207	broad.mit.edu	37	17	81052056	81052056	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr17:81052056C>T	uc002kgh.3	+	3	797	c.672C>T	c.(670-672)gcC>gcT	p.A224A	METRNL_uc002kgi.3_Silent_p.A142A	NM_001004431	NP_001004431	Q641Q3	METRL_HUMAN	Homo sapiens meteorin, glial cell differentiation regulator-like (METRNL), mRNA.	224						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			AGGACTCAGCCATCCACCTGC	0.652000														73			82		0	0	0.000781405	0	0
EVC2	132884	broad.mit.edu	37	4	5564588	5564588	+	Nonsense_Mutation	SNP	A	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr4:5564588A>T	uc003gij.3	-	21	3968	c.3914T>A	c.(3913-3915)tTg>tAg	p.L1305*	EVC2_uc003gik.3_Nonsense_Mutation_p.L1225*|EVC2_uc011bwb.2_Nonsense_Mutation_p.L745*	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA.	1305						integral to membrane		p.A1304T(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GTCCATGCCCAAGGCCCTCAT	0.478000														72			28		0	0	0.00178596	0	0
TTC3	7267	broad.mit.edu	37	21	38568329	38568329	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr21:38568329T>G	uc002yvz.3	+	41	5676	c.5571T>G	c.(5569-5571)tgT>tgG	p.C1857W	TTC3_uc002ywa.3_Missense_Mutation_p.C1857W|TTC3_uc002ywb.3_Missense_Mutation_p.C1857W|TTC3_uc010gnf.3_Missense_Mutation_p.C1622W|TTC3_uc002ywc.3_Missense_Mutation_p.C1547W	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	1857					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.P1856R(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TATTCCCATGTTACAACAGGT	0.423000														38			5		0	0	0.00116845	0	0
NCSTN	23385	broad.mit.edu	37	1	160321843	160321843	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr1:160321843G>A	uc001fvx.3	+	8	968	c.844_splice	c.e8-1	p.L282_splice	NCSTN_uc001fvy.3_Splice_Site_p.L262_splice|NCSTN_uc010pjf.2_Intron|NCSTN_uc010pjg.2_Splice_Site_p.L24_splice	NM_015331	NP_056146	Q92542	NICA_HUMAN	Homo sapiens nicastrin (NCSTN), mRNA.	282					Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|positive regulation of catalytic activity|protein processing	Golgi apparatus|endoplasmic reticulum|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTTGTACCTAGCTGGATAGTC	0.488000														58			29		0	0	0.00209593	0	0
AGBL1	123624	broad.mit.edu	37	15	86940602	86940602	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr15:86940602C>T	uc002blz.1	+	16	2322	c.2242C>T	c.(2242-2244)Cgt>Tgt	p.R748C		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	748					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TGCAGGACATCGTCCATATCA	0.398000														5			5		0	0	0.00198382	0	0
HEATR6	63897	broad.mit.edu	37	17	58147098	58147098	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr17:58147098C>T	uc002iyk.1	-	6	930	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	HEATR6_uc010wos.1_Missense_Mutation_p.E137K	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA.	305							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GCACTGGATTCTGATTGCTGT	0.403000														133			22		0	0	0.00229938	0	0
PROCR	10544	broad.mit.edu	37	20	33764014	33764014	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr20:33764014C>T	uc002xbt.3	+	2	550	c.366C>T	c.(364-366)ccC>ccT	p.P122P	EDEM2_uc010zuv.1_Intron	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	Homo sapiens protein C receptor, endothelial (PROCR), mRNA.	122					antigen processing and presentation|blood coagulation|immune response	MHC class I protein complex|integral to plasma membrane	receptor activity			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	AGCTGCCTCCCGAGGGCTCTA	0.612000														137			21		0	0	0.000720815	0	0
RSF1	51773	broad.mit.edu	37	11	77412870	77412870	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr11:77412870C>T	uc001oyn.3	-	5	1524	c.1404G>A	c.(1402-1404)aaG>aaA	p.K468K	RSF1_uc001oym.3_Silent_p.K216K	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	468					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			AGCTCTCTTCCTTTGTCTCAT	0.398000														32			4		0	0	0.00024832	0	0
KRT84	3890	broad.mit.edu	37	12	52775207	52775207	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr12:52775207C>T	uc001sah.1	-	4	1063	c.1015G>A	c.(1015-1017)Gcc>Acc	p.A339T		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	339	Coil 2.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCATACTGGGCCTTGACCTCA	0.587000														156			31		0	0	0.00209593	0	0
OR10J3	441911	broad.mit.edu	37	1	159283990	159283990	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr1:159283990G>A	uc010piu.2	-	0	460	c.460C>T	c.(460-462)Ctt>Ttt	p.L154F		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GCCATGCCAAGGCCAATCCCC	0.507000														2			4		0	0	0.000602214	0	0
PLB1	151056	broad.mit.edu	37	2	28865849	28865849	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr2:28865849C>T	uc002rmb.2	+	57	4343	c.4299C>T	c.(4297-4299)atC>atT	p.I1433I	PLB1_uc010ezj.2_Silent_p.I1422I|PLB1_uc002rme.2_Silent_p.I398I	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	1433	Necessary for membrane localization (By similarity).				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TGGGCATCATCGGGACAGTGG	0.662000														16			7		0	0	0.000157383	0	0
SHROOM2	357	broad.mit.edu	37	X	9863311	9863311	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chrX:9863311G>A	uc004csu.1	+	3	1453	c.1363G>A	c.(1363-1365)Gac>Aac	p.D455N		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	455					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CTTCCAGAACGACAGCCCTCC	0.672000														52			14		0	0	0.00185496	0	0
THOC6	79228	broad.mit.edu	37	16	3076282	3076282	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr16:3076282C>T	uc002ctb.2	+	4	651	c.355C>T	c.(355-357)Cca>Tca	p.P119S	HCFC1R1_uc002csx.1_5'Flank|HCFC1R1_uc002csy.1_5'Flank|HCFC1R1_uc002csz.1_5'Flank|THOC6_uc002ctd.2_Missense_Mutation_p.P119S|THOC6_uc002cta.2_Missense_Mutation_p.P95S	NM_024339	NP_077315	Q86W42	THOC6_HUMAN	Homo sapiens THO complex 6 homolog (Drosophila) (THOC6), transcript variant 1, mRNA.	119					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						TCGTCAGCCTCCATACAGGTG	0.577000														40			5		0	0	0.000157383	0	0
MUC16	94025	broad.mit.edu	37	19	9073985	9073985	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr19:9073985G>A	uc002mkp.3	-	2	13665	c.13461C>T	c.(13459-13461)acC>acT	p.T4487T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4489	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGTCCAGAGGTAAGAACTG	0.458000														14			10		0	0	0.00244969	0	0
C10orf137	26098	broad.mit.edu	37	10	127436243	127436243	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr10:127436243T>A	uc001liq.1	+	19	3246	c.2953T>A	c.(2953-2955)Tct>Act	p.S985T	C10orf137_uc001lin.3_Missense_Mutation_p.S951T|C10orf137_uc001lip.1_Missense_Mutation_p.S689T|C10orf137_uc001lio.1_Missense_Mutation_p.S951T|C10orf137_uc001lis.1_Missense_Mutation_p.S311T|C10orf137_uc001lit.1_5'Flank	NM_001202438	NP_001189367	Q3B7T1	EDRF1_HUMAN	Homo sapiens chromosome 10 open reading frame 137 (C10orf137), transcript variant 1, mRNA.	985					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGCTCCGTTATCTAGAAAAGC	0.378000														17			4		0	0	0.00024832	0	0
RBBP6	5930	broad.mit.edu	37	16	24581764	24581764	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr16:24581764C>T	uc002dmh.3	+	16	4793	c.3753C>T	c.(3751-3753)gtC>gtT	p.V1251V	RBBP6_uc010vcb.1_Silent_p.V1118V|RBBP6_uc002dmi.3_Silent_p.V1217V|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Silent_p.V1084V	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1251					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AAGGAAAGGTCAGACGAAAAG	0.413000														54			17		0	0	0.00074312	0	0
CFH	3075	broad.mit.edu	37	1	196887484	196887484	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr1:196887484C>T	uc001gtp.3	+	9	1822	c.1685C>T	c.(1684-1686)tCa>tTa	p.S562L	CFH_uc021pgt.1_Missense_Mutation_p.S185L|CFH_uc009wyy.3_Missense_Mutation_p.S561L|CFH_uc001gto.3_Missense_Mutation_p.S315L	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	1213	Sushi 9.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TCAGTTCTATCATTTCAAGCA	0.368000														23			12		0	0	0.00185496	0	0
MORC4	79710	broad.mit.edu	37	X	106224175	106224175	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chrX:106224175C>T	uc004emu.4	-	6	1157	c.882G>A	c.(880-882)atG>atA	p.M294I	MORC4_uc004emp.4_Intron|MORC4_uc004emv.4_Missense_Mutation_p.M294I|MORC4_uc004emw.4_Missense_Mutation_p.M42I	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	Homo sapiens MORC family CW-type zinc finger 4 (MORC4), transcript variant 1, mRNA.	294							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						TCTTGGCAATCATCTGGGTAG	0.398000														22			7		0	0	0.000157383	0	0
AK7	122481	broad.mit.edu	37	14	96949417	96949417	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr14:96949417G>A	uc001yfn.2	+	15	1879	c.1835G>A	c.(1834-1836)gGt>gAt	p.G612D		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	612					cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CGAAATTATGGTTTAACAGAC	0.507000														112			56		0	0	0.000781405	0	0
FLG	2312	broad.mit.edu	37	1	152285890	152285890	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr1:152285890C>T	uc001ezu.1	-	2	1508	c.1472G>A	c.(1471-1473)gGa>gAa	p.G491E	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	491	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTTGTCTTCCTCCAGTGCT	0.607000									Ichthyosis					112			36		0	0	0.00058488	0	0
CDH8	1006	broad.mit.edu	37	16	61854894	61854894	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr16:61854894C>T	uc002eog.2	-	5	1914	c.959G>A	c.(958-960)gGa>gAa	p.G320E	CDH8_uc002eoh.3_Missense_Mutation_p.G89E	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	320	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AAGTGCTGTTCCATCTCCATC	0.408000														5			4		0	0	0.00024832	0	0
CTIF	9811	broad.mit.edu	37	18	46146061	46146061	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr18:46146061C>T	uc002ldd.3	+	2	484	c.125C>T	c.(124-126)gCt>gTt	p.A42V	CTIF_uc002ldc.3_Missense_Mutation_p.A42V	NM_001142397	NP_001135869	O43310	CTIF_HUMAN	Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA.	42	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GGGCTGCTGGCTGACAAGACG	0.662000														9			5		0	0	0.00116845	0	0
C12orf51	283450	broad.mit.edu	37	12	112672931	112672931	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr12:112672931G>A	uc021reb.1	-	36	5859	c.5463C>T	c.(5461-5463)atC>atT	p.I1821I		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CCCGCTTGTGGATAAATATCG	0.468000														8			3		0	0	6.4e-05	0	0
BCL11A	53335	broad.mit.edu	37	2	60773237	60773237	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr2:60773237G>T	uc002sae.1	-	1	482	c.254C>A	c.(253-255)cCt>cAt	p.P85H	BCL11A_uc002sab.3_Missense_Mutation_p.P85H|BCL11A_uc002sac.3_Missense_Mutation_p.P85H|BCL11A_uc010ypi.2_5'UTR|BCL11A_uc010ypj.2_Missense_Mutation_p.P85H|BCL11A_uc002saf.1_Missense_Mutation_p.P85H|BCL11A_uc010fcg.3_Missense_Mutation_p.P85H	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	85	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGAAGGGGAAGGTGGCTTATC	0.463000			T	IGH@	B-CLL									508			232		1.85892e-132	1.09031e-131	0.000781405	1	0
AHNAK2	113146	broad.mit.edu	37	14	105418710	105418710	+	Silent	SNP	G	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr14:105418710G>T	uc010axc.1	-	6	3198	c.3078C>A	c.(3076-3078)ccC>ccA	p.P1026P	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.P926P	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1026						nucleus		p.P1026P(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTCCACCTTGGGTGCAGACA	0.577000														247			12		0.00010058	0.000581959	0.00136819	1	0
FAAH2	158584	broad.mit.edu	37	X	57475082	57475082	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chrX:57475082C>T	uc004dvc.3	+	9	1503	c.1354C>T	c.(1354-1356)Ccc>Tcc	p.P452S		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	452						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GTTCTTATATCCCTCACATCC	0.423000										HNSCC(52;0.14)				17			4		0	0	0.00024832	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913863	77913863	+	Missense_Mutation	SNP	G	A	A	rs148985625		TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chrX:77913863G>A	uc022bzi.1	-	0	55	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	ZCCHC5_uc004edc.1_Missense_Mutation_p.R19W	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	19							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TGAGCCTGCCGAATTTCATTC	0.463000														37			6		0	0	0.00198382	0	0
C6orf118	168090	broad.mit.edu	37	6	165715662	165715662	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr6:165715662T>A	uc003qum.4	-	1	185	c.149A>T	c.(148-150)aAa>aTa	p.K50I	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	50										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CCGGTGGTCTTTCTGAAGCCG	0.547000														40			41		0	0	0.00222228	0	0
NDST2	8509	broad.mit.edu	37	10	75566505	75566505	+	Silent	SNP	G	A	A	rs35023121	byFrequency	TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr10:75566505G>A	uc001jvk.2	-	4	1962	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	NDST2_uc010qks.1_Silent_p.F12F|NDST2_uc010qkt.1_Silent_p.F263F|NDST2_uc001jvl.1_5'Flank|NDST2_uc009xro.2_Silent_p.F12F|NDST2_uc010qku.1_Silent_p.F261F	NM_003635	NP_003626	P52849	NDST2_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 (NDST2), mRNA.	386	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					ACATGTGGGGGAACCACCAGA	0.577000														32			12		0	0	0.00185496	0	0
FCGBP	8857	broad.mit.edu	37	19	40421209	40421209	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr19:40421209C>T	uc002omp.4	-	4	2720	c.2712G>A	c.(2710-2712)cgG>cgA	p.R904R		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	904	VWFD 2.					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)			CCACCAGCACCCGGAAGGCAG	0.682000														19			4		0	0	0.00024832	0	0
DIDO1	11083	broad.mit.edu	37	20	61525513	61525514	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr20:61525513_61525514GG>AA	uc002ydr.2	-	11	2917_2918	c.2605_2606CC>TT	c.(2605-2607)ccg>TTg	p.P869L	DIDO1_uc002yds.2_Missense_Mutation_p.P869L|DIDO1_uc002ydt.2_Missense_Mutation_p.P869L|DIDO1_uc002ydu.2_Missense_Mutation_p.P869L	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	869					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TTGTTTTTTCGGAGCTGGCTCA	0.505000														180			43		0	0	6.4e-05	0	0
KCNQ5	56479	broad.mit.edu	37	6	73905049	73905049	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr6:73905049G>A	uc011dyh.2	+	14	3115	c.2768G>A	c.(2767-2769)aGg>aAg	p.R923K	KCNQ5_uc011dyi.2_Missense_Mutation_p.R914K|KCNQ5_uc010kat.3_Missense_Mutation_p.R895K|KCNQ5_uc003pgk.3_Missense_Mutation_p.R904K|KCNQ5_uc011dyj.2_Missense_Mutation_p.R794K|KCNQ5_uc011dyk.2_Missense_Mutation_p.R654K	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	904					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GACTCTCTAAGGACTGGAAGG	0.483000														33			29		0	0	0.00178596	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155935153	155935153	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr1:155935153G>A	uc001fmu.2	-	9	911	c.656C>T	c.(655-657)tCc>tTc	p.S219F	ARHGEF2_uc001fmr.2_Missense_Mutation_p.S147F|ARHGEF2_uc001fms.2_Missense_Mutation_p.S174F|ARHGEF2_uc001fmt.2_Missense_Mutation_p.S174F|ARHGEF2_uc010pgt.1_Missense_Mutation_p.S147F|ARHGEF2_uc010pgu.1_Missense_Mutation_p.S219F	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.	174					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGAGTCTGTGGACTGTGAGAG	0.577000														54			30		0	0	0.000814825	0	0
RAI2	10742	broad.mit.edu	37	X	17819465	17819465	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chrX:17819465G>A	uc022btm.1	-	0	666	c.666C>T	c.(664-666)tcC>tcT	p.S222S	RAI2_uc004cyf.3_Silent_p.S222S|RAI2_uc004cyg.3_Silent_p.S222S|RAI2_uc011miy.2_Silent_p.S172S|RAI2_uc022btl.1_Silent_p.S222S|RAI2_uc004cyh.4_Silent_p.S222S|RAI2_uc010nfa.3_Silent_p.S222S	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	222	Pro-rich.				embryo development			p.L221F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GGACCAGGGGGGACAAGGGGG	0.622000														39			10		0	0	0.000442599	0	0
NCAN	1463	broad.mit.edu	37	19	19339082	19339082	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr19:19339082C>T	uc002nlz.3	+	7	2752	c.2653C>T	c.(2653-2655)Cca>Tca	p.P885S	NCAN_uc010ecc.1_Missense_Mutation_p.P449S	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	885					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GGTTGGAGTTCCAGCCATGTC	0.602000														57			14		0	0	0.00244969	0	0
AZU1	566	broad.mit.edu	37	19	829624	829624	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr19:829624C>T	uc002lpz.1	+	2	294	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001700	NP_001691	P20160	CAP7_HUMAN	Homo sapiens azurocidin 1 (AZU1), mRNA.	93	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of MHC class II biosynthetic process|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGAGGCAGTCCCGCCAGACG	0.617000														60			13		0	0	0.00244969	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058306	152058306	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr1:152058306C>T	uc001ezo.1	-	2	1917	c.1852G>A	c.(1852-1854)Gat>Aat	p.D618N		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	618							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AGCTGTACATCCTCTCCTCTG	0.557000														58			16		0	0	0.00074312	0	0
TUBB7P	56604	broad.mit.edu	37	4	190905467	190905467	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr4:190905467C>T	uc011clg.2	-	2	222	c.4G>A	c.(4-6)Gac>Aac	p.D2N				Q99867	TBB4Q_HUMAN	Synthetic construct DNA, clone: pF1KB7231, Homo sapiens TUBB4Q gene for tubulin, beta polypeptide 4, member Q, without stop codon, in Flexi system.	74					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity										CGCACAGAGTCCATGGTGCCC	0.692000														73			28		0	0	0.00111076	0	0
ACVRL1	94	broad.mit.edu	37	12	52306947	52306947	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr12:52306947G>A	uc001rzj.3	+	2	409	c.126G>A	c.(124-126)aaG>aaA	p.K42K	ACVRL1_uc021qxz.1_Silent_p.K42K|ACVRL1_uc001rzk.3_Silent_p.K42K|ACVRL1_uc010snm.2_Intron	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	42					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of DNA replication|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	ATP binding|SMAD binding|activin binding|activin receptor activity, type I|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CACATTGCAAGGGGCCTACCT	0.672000														21			9		0	0	0.000442599	0	0
PTPRS	5802	broad.mit.edu	37	19	5212148	5212148	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr19:5212148C>T	uc002mbv.3	-	31	5117	c.4883G>A	c.(4882-4884)cGc>cAc	p.R1628H	PTPRS_uc002mbu.1_Missense_Mutation_p.R1197H|PTPRS_uc010xin.2_Missense_Mutation_p.R1170H|PTPRS_uc002mbw.3_Missense_Mutation_p.R1590H|PTPRS_uc002mbx.3_Missense_Mutation_p.R1185H|PTPRS_uc002mby.3_Missense_Mutation_p.R1181H	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1628	Tyrosine-protein phosphatase 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CATGTAGTTGCGCTGGGACCT	0.602000														67			15		0	0	0.000308642	0	0
XDH	7498	broad.mit.edu	37	2	31573079	31573079	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr2:31573079C>T	uc002rnv.1	-	24	2721	c.2642G>A	c.(2641-2643)cGa>cAa	p.R881Q		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	881					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.R881Q(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GAATAAAGCTCGTTCCATAAT	0.498000														29			7		0	0	0.00198382	0	0
NRAS	4893	broad.mit.edu	37	1	115258748	115258748	+	Missense_Mutation	SNP	C	G	G	rs121913250		TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr1:115258748C>G	uc009wgu.3	-	1	288	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	12			G -> C (in leukemia).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.G12D(379)|p.G12S(268)|p.G12C(165)|p.G12V(60)|p.G12A(42)|p.G12R(36)|p.G12G(4)|p.G12N(4)|p.A11T(3)|p.G12P(2)|p.G12Y(2)|p.G12E(1)|p.G12T(1)|p.G12?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAACACCACCTGCTCCAACC	0.493000	G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				103			32		0	0	0.000814825	0	0
FAM3B	54097	broad.mit.edu	37	21	42720632	42720632	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr21:42720632C>T	uc002yzb.1	+	6	745	c.599C>T	c.(598-600)tCc>tTc	p.S200F	FAM3B_uc002yza.2_Non-coding_Transcript|FAM3B_uc002yzc.1_Missense_Mutation_p.S152F	NM_058186	NP_478066	P58499	FAM3B_HUMAN	Homo sapiens family with sequence similarity 3, member B (FAM3B), transcript variant 1, mRNA.	200					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				GAACTCCCTTCCGAAATTCAG	0.423000														53			25		0	0	0.00106085	0	0
RP1	6101	broad.mit.edu	37	8	55537354	55537354	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr8:55537354G>A	uc003xsd.1	+	3	1060	c.912G>A	c.(910-912)aaG>aaA	p.K304K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	304					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.E303*(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCTTAGAAAAGAATGATTCTC	0.318000														58			5		0	0	0.00116845	0	0
AFM	173	broad.mit.edu	37	4	74351594	74351594	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr4:74351594G>A	uc003hhb.3	+	3	317	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	96	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGTTTTACAGGAAAAAATATG	0.348000														25			6		0	0	0.00198382	0	0
AKT2	208	broad.mit.edu	37	19	40743886	40743886	+	Missense_Mutation	SNP	C	G	G	rs121434593		TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr19:40743886C>G	uc002onf.3	-	8	1120	c.821G>C	c.(820-822)cGc>cCc	p.R274P	AKT2_uc010egs.3_Missense_Mutation_p.R274P|AKT2_uc010xvj.2_Missense_Mutation_p.R212P|AKT2_uc010egt.3_Missense_Mutation_p.R212P|AKT2_uc010egu.2_Missense_Mutation_p.R212P|AKT2_uc002one.3_Missense_Mutation_p.R170P	NM_001626	NP_001229957	P31751	AKT2_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 2 (AKT2), transcript variant 1, mRNA.	274	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			CTTGATGTCGCGGTATACCAC	0.597000			A		"""ovarian, pancreatic """									63			36		0	0	0.00111076	0	0
LRRC46	90506	broad.mit.edu	37	17	45913763	45913763	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr17:45913763T>C	uc002ima.3	+	6	880	c.517T>C	c.(517-519)Tgg>Cgg	p.W173R	LRRC46_uc002imb.3_Missense_Mutation_p.W126R	NM_033413	NP_219481	Q96FV0	LRC46_HUMAN	Homo sapiens leucine rich repeat containing 46 (LRRC46), mRNA.	173	LRRCT.							p.R172S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						GGTGGAGCGCTGGATTTCGGA	0.592000														22			28		0	0	0.00178596	0	0
KEL	3792	broad.mit.edu	37	7	142650956	142650956	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr7:142650956G>A	uc003wcb.3	-	8	1222	c.1012C>T	c.(1012-1014)Cat>Tat	p.H338Y		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	338					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TCCACGTCATGGACCACGAGG	0.537000														61			43		0	0	0.0025221	0	0
OR4K5	79317	broad.mit.edu	37	14	20389533	20389533	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr14:20389533C>T	uc010tkw.2	+	0	768	c.768C>T	c.(766-768)ttC>ttT	p.F256F		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I255T(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTGCATCTTCATCTATGTGT	0.398000														55			21		0	0	0.00278032	0	0
SLC41A1	254428	broad.mit.edu	37	1	205779249	205779249	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr1:205779249G>A	uc001hdh.1	-	1	1193	c.321C>T	c.(319-321)ctC>ctT	p.L107L		NM_173854	NP_776253	Q8IVJ1	S41A1_HUMAN	Homo sapiens solute carrier family 41, member 1 (SLC41A1), mRNA.	107						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGCCTGCCAGGAGGAATGGAA	0.597000														55			39		0	0	0.00148497	0	0
NLGN3	54413	broad.mit.edu	37	X	70389544	70389545	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chrX:70389544_70389545GG>AA	uc004dzd.2	+	7	2478_2479	c.2144_2145GG>AA	c.(2143-2145)ggg>gAA	p.G715E	NLGN3_uc004dzb.3_Missense_Mutation_p.G695E|NLGN3_uc011mps.2_Missense_Mutation_p.G675E|NLGN3_uc004dzc.3_Missense_Mutation_p.G578E|NLGN3_uc004dze.3_Missense_Mutation_p.G513E	NM_181303	NP_851820	Q9NZ94	NLGN3_HUMAN	Homo sapiens neuroligin 3 (NLGN3), transcript variant 1, mRNA.	715					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					ATCGCCGTGGGGGCCTCCCTCC	0.629000														33			7		0	0	6.4e-05	0	0
ANK1	286	broad.mit.edu	37	8	41585483	41585483	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr8:41585483C>T	uc003xok.3	-	3	354	c.270G>A	c.(268-270)caG>caA	p.Q90Q	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Silent_p.Q90Q|ANK1_uc003xoj.3_Silent_p.Q90Q|ANK1_uc003xol.3_Silent_p.Q90Q|ANK1_uc003xom.3_Silent_p.Q123Q	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	90	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCACCTCATCCTGCCCGGCTA	0.602000														41			23		0	0	0.001512	0	0
ACE	1636	broad.mit.edu	37	17	61559936	61559936	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr17:61559936C>T	uc002jau.2	+	7	1262	c.1228C>T	c.(1228-1230)Cgg>Tgg	p.R410W	ACE_uc010wpi.2_Missense_Mutation_p.R410W|ACE_uc010ddu.2_Missense_Mutation_p.R227W|ACE_uc010wpj.2_5'Flank|ACE_uc010ddv.2_5'Flank|ACE_uc002jav.2_5'Flank|ACE_uc002jaw.2_5'Flank|ACE_uc010wpk.2_5'Flank	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	410	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CTCCCTGCGTCGGGGGGCCAA	0.607000														144			13		0	0	0.000422831	0	0
PLEC	5339	broad.mit.edu	37	8	144993494	144993494	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr8:144993494T>C	uc003zaf.1	-	31	11076	c.10906A>G	c.(10906-10908)Aac>Gac	p.N3636D	PLEC_uc003zab.1_Missense_Mutation_p.N3499D|PLEC_uc003zac.1_Missense_Mutation_p.N3503D|PLEC_uc003zad.2_Missense_Mutation_p.N3499D|PLEC_uc003zae.1_Missense_Mutation_p.N3467D|PLEC_uc003zag.1_Missense_Mutation_p.N3477D|PLEC_uc003zah.2_Missense_Mutation_p.N3485D|PLEC_uc003zaj.2_Missense_Mutation_p.N3526D	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3636	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGGACGCGGTTCATCTCCTCA	0.657000														64			28		0	0	0.000878237	0	0
RBM47	54502	broad.mit.edu	37	4	40440442	40440442	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr4:40440442C>T	uc003gvc.2	-	3	1179	c.469G>A	c.(469-471)Ggg>Agg	p.G157R	RBM47_uc003gvd.2_Missense_Mutation_p.G157R|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.G119R|RBM47_uc003gvg.1_Missense_Mutation_p.G157R	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	157	RRM 2.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TTGGGGATCCCGCCGATGAAG	0.647000														46			23		0	0	0.000586117	0	0
DPP10	57628	broad.mit.edu	37	2	116594278	116594278	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr2:116594278G>A	uc002tle.3	+	23	2171	c.2150G>A	c.(2149-2151)gGc>gAc	p.G717D	DPP10_uc002tla.2_Missense_Mutation_p.G713D|DPP10_uc002tlb.2_Missense_Mutation_p.G663D|DPP10_uc002tlc.2_Missense_Mutation_p.G709D|DPP10_uc002tlf.2_Missense_Mutation_p.G706D	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	713					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AATGTTCATGGCTTGAAAGAA	0.313000														181			79		0	0	0.000781405	0	0
ZNF480	147657	broad.mit.edu	37	19	52817502	52817502	+	Silent	SNP	T	C	C			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr19:52817502T>C	uc010ydl.2	+	2	239	c.169T>C	c.(169-171)Ttg>Ctg	p.L57L	ZNF480_uc002pyv.3_Intron|ZNF480_uc010ydm.2_Silent_p.L57L|ZNF480_uc010epn.3_Intron|AK097759_uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	Homo sapiens zinc finger protein 480 (ZNF480), mRNA.	57	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GGATGTGATGTTGGAGAACTA	0.522000														26			9		0	0	0.000442599	0	0
UPK3B	80761	broad.mit.edu	37	7	76144448	76144448	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr7:76144448C>T	uc003ufq.3	+	3	1068	c.843C>T	c.(841-843)ccC>ccT	p.P281P	UPK3B_uc003ufo.3_Missense_Mutation_p.P253L|UPK3B_uc010ldk.1_Silent_p.P226P	NM_030570	NP_085047	Q9BT76	UPK3B_HUMAN	Homo sapiens uroplakin 3B (UPK3B), transcript variant 1, mRNA.	281					negative regulation of gene expression	integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				CACCACATCCCACCCAGAGAG	0.706000														6			6		0	0	0.00198382	0	0
HEATR1	55127	broad.mit.edu	37	1	236720519	236720519	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr1:236720519G>A	uc001hyd.2	-	36	5483	c.5331C>T	c.(5329-5331)ccC>ccT	p.P1777P	HEATR1_uc009xgh.2_Silent_p.P939P	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	1777					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTTCCAGATAGGGGCTGATGA	0.542000														19			6		0	0	0.000274275	0	0
TMEM189-UBE2V1	387522	broad.mit.edu	37	20	48699408	48699408	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr20:48699408G>A	uc002xva.3	-	3	386	c.341C>T	c.(340-342)tCa>tTa	p.S114L	TMEM189-UBE2V1_uc002xvf.3_Missense_Mutation_p.S337L|TMEM189-UBE2V1_uc002xvb.3_Non-coding_Transcript|TMEM189-UBE2V1_uc002xvc.3_Missense_Mutation_p.S70L|TMEM189-UBE2V1_uc002xvd.3_Missense_Mutation_p.S137L|TMEM189-UBE2V1_uc002xve.3_Missense_Mutation_p.S137L	NM_001032288	NP_001027459	A5PLL7	TM189_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2 variant 1 (UBE2V1), transcript variant 4, mRNA.	0						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			GATGCTATATGAATTCTGCCA	0.423000														124			38		0	0	0.000814825	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17140817	17140817	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr11:17140817C>T	uc001mmq.4	-	15	2955	c.2890G>A	c.(2890-2892)Gag>Aag	p.E964K	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Missense_Mutation_p.E584K|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	964					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	CTAATGGCCTCAATCCAGGTC	0.378000														65			21		0	0	0.00229938	0	0
OPN4	94233	broad.mit.edu	37	10	88419090	88419090	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr10:88419090C>T	uc010qmk.1	+	5	925	c.698C>T	c.(697-699)tCc>tTc	p.S233F	OPN4_uc001kdp.3_Missense_Mutation_p.S233F|OPN4_uc001kdq.3_Missense_Mutation_p.S222F|OPN4_uc009xsx.1_5'Flank	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.	222					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						ACATCCTGCTCCTGGGACTAC	0.612000														80			16		0	0	0.000308642	0	0
HRH1	3269	broad.mit.edu	37	3	11301470	11301470	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr3:11301470G>A	uc010hdr.3	+	1	1089	c.747G>A	c.(745-747)aaG>aaA	p.K249K	HRH1_uc010hds.3_Silent_p.K249K|HRH1_uc010hdt.3_Silent_p.K249K|HRH1_uc003bwb.4_Silent_p.K249K|HRH1_uc021wtb.1_Silent_p.K249K	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	249					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	GGGATGCCAAGAAACCAGGGA	0.542000														21			7		0	0	0.000157383	0	0
ABCA12	26154	broad.mit.edu	37	2	215890504	215890504	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr2:215890504C>T	uc002vew.3	-	11	1401	c.1181_splice	c.e11-1	p.E394_splice	ABCA12_uc002vev.3_Splice_Site_p.E76_splice|ABCA12_uc010zjn.2_Splice_Site	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	394					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTAGATTTTCTGTAAAGGAA	0.358000														60			30		0	0	0.001512	0	0
LAMA2	3908	broad.mit.edu	37	6	129649516	129649516	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr6:129649516G>A	uc021zfb.1	+	28	4375	c.4270G>A	c.(4270-4272)Gga>Aga	p.G1424R	LAMA2_uc003qbn.3_Missense_Mutation_p.G1424R|LAMA2_uc003qbo.3_Missense_Mutation_p.G1424R	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1424	Laminin EGF-like 15.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCAATGTAATGGACACAGCAG	0.527000														22			10		0	0	0.000442599	0	0
TNXB	7148	broad.mit.edu	37	6	32046849	32046849	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr6:32046849C>T	uc003nzl.2	-	10	4538	c.4336G>A	c.(4336-4338)Ggg>Agg	p.G1446R		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1533					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACGCGCTGCCCCTCGTGGAGG	0.692000														99			16		0	0	0.000566183	0	0
LRRK2	120892	broad.mit.edu	37	12	40704267	40704267	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr12:40704267G>A	uc001rmg.4	+	30	4473	c.4352G>A	c.(4351-4353)gGc>gAc	p.G1451D	LRRK2_uc009zjw.3_Missense_Mutation_p.G289D|LRRK2_uc001rmi.3_Missense_Mutation_p.G284D	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	1451	Roc.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATTCTCGTTGGCACACATTTG	0.488000														15			4		0	0	0.000602214	0	0
CASS4	57091	broad.mit.edu	37	20	55012333	55012333	+	Silent	SNP	T	C	C			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr20:55012333T>C	uc002xxp.2	+	2	375	c.150T>C	c.(148-150)ggT>ggC	p.G50G	CASS4_uc002xxq.4_Silent_p.G50G|CASS4_uc010zze.1_Silent_p.G50G|CASS4_uc002xxr.2_Silent_p.G50G|CASS4_uc010gio.2_Silent_p.G50G	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	50	SH3.				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						AAAGCGAGGGTTGGTGGAAGT	0.607000														58			41		0	0	0.000781405	0	0
MORC1	27136	broad.mit.edu	37	3	108723946	108723946	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr3:108723946C>T	uc003dxl.3	-	18	2071	c.1984G>A	c.(1984-1986)Gaa>Aaa	p.E662K	MORC1_uc011bhn.2_Missense_Mutation_p.E641K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	662					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						TTGACATTTTCTGGCAGAGCT	0.348000														49			37		0	0	0.00170553	0	0
WFDC2	10406	broad.mit.edu	37	20	44108723	44108723	+	Missense_Mutation	SNP	C	T	T	rs147125152		TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr20:44108723C>T	uc002xoo.3	+	2	393	c.365C>T	c.(364-366)cCc>cTc	p.P122L	WFDC2_uc002xoq.3_Non-coding_Transcript|WFDC2_uc002xop.3_Missense_Mutation_p.P74L|WFDC2_uc002xor.3_Missense_Mutation_p.P71L	NM_006103	NP_006094	Q14508	WFDC2_HUMAN	Homo sapiens WAP four-disulfide core domain 2 (WFDC2), mRNA.	122	WAP 2.				proteolysis|spermatogenesis	extracellular space	serine-type endopeptidase inhibitor activity			lung(1)	1		Myeloproliferative disorder(115;0.0122)				TGTGTCACTCCCAATTTCTGA	0.567000														66			46		0	0	0.000781405	0	0
FGD3	89846	broad.mit.edu	37	9	95797848	95797848	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr9:95797848C>T	uc004asz.2	+	17	2683	c.2155C>T	c.(2155-2157)Cct>Tct	p.P719S	FGD3_uc004asw.2_Missense_Mutation_p.P719S|FGD3_uc004asx.2_Missense_Mutation_p.P718S|FGD3_uc011luc.1_Missense_Mutation_p.P322S	NM_033086	NP_149077	Q5JSP0	FGD3_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA.	719					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GCTTCAGGTCCCTATGGGCGC	0.657000														22			13		0	0	0.00074312	0	0
GSG1	83445	broad.mit.edu	37	12	13240172	13240172	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr12:13240172C>T	uc001rbn.3	-	5	844	c.660G>A	c.(658-660)atG>atA	p.M220I	GSG1_uc001rbl.3_Missense_Mutation_p.M156I|GSG1_uc001rbj.3_Missense_Mutation_p.M184I|GSG1_uc001rbk.3_Missense_Mutation_p.D226N|GSG1_uc001rbm.3_Missense_Mutation_p.M133I|GSG1_uc001rbo.3_Missense_Mutation_p.D262N|GSG1_uc001rbp.3_Missense_Mutation_p.M197I|GSG1_uc001rbq.2_Missense_Mutation_p.D262N	NM_001080555	NP_001074024	Q2KHT4	GSG1_HUMAN	Homo sapiens germ cell associated 1 (GSG1), transcript variant 4, mRNA.	207						endoplasmic reticulum membrane|integral to membrane		p.G220E(1)		endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GTGAATACATCATGTGGGCCA	0.498000														37			5		0	0	0.00116845	0	0
WDR65	149465	broad.mit.edu	37	1	43664180	43664180	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr1:43664180G>A	uc021omk.1	+	7	1437	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.E420K|WDR65_uc001ciq.2_Missense_Mutation_p.E431K|WDR65_uc001cip.2_Missense_Mutation_p.E431K	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	431										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGAATACCAAGAAGAGGCATA	0.393000														38			11		0	0	0.00185496	0	0
C6orf170	221322	broad.mit.edu	37	6	121481215	121481215	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr6:121481215G>A	uc003pyo.1	-	23	2782	c.2714C>T	c.(2713-2715)tCa>tTa	p.S905L	C6orf170_uc003pyq.1_Non-coding_Transcript|C6orf170_uc010kej.1_Missense_Mutation_p.S4L|C6orf170_uc003pyp.1_Missense_Mutation_p.S465L	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	905					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	p.S905L(2)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		CAATGGATATGATGAAAACAT	0.303000														101			25		0	0	0.00106085	0	0
ANK3	288	broad.mit.edu	37	10	61834169	61834169	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr10:61834169G>A	uc001jky.3	-	36	6808	c.6470C>T	c.(6469-6471)cCc>cTc	p.P2157L	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2157					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGGAGGGATGGGAACTTCATG	0.483000														18			4		0	0	0.00024832	0	0
UBR2	23304	broad.mit.edu	37	6	42585058	42585058	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr6:42585058C>T	uc011dur.2	+	10	1561	c.1263C>T	c.(1261-1263)ttC>ttT	p.F421F	UBR2_uc011dus.2_Intron|UBR2_uc010jxv.1_5'UTR|UBR2_uc003osh.3_Intron|UBR2_uc003osf.3_Intron	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	421					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			CTGTCCAGTTCTTCACCGCAC	0.458000														26			11		0	0	0.000978159	0	0
PLXND1	23129	broad.mit.edu	37	3	129293200	129293200	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr3:129293200G>A	uc003emx.2	-	11	2764	c.2664C>T	c.(2662-2664)tgC>tgT	p.C888C		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	888					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CGGGGGCGGGGCAGGTGCCAG	0.697000														8			4		0	0	0.00024832	0	0
MST1P9	11223	broad.mit.edu	37	1	17084327	17084327	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr1:17084327G>A	uc010ock.2	-	12	1690	c.1690C>T	c.(1690-1692)Ctg>Ttg	p.L564L	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Silent_p.L164L					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						AGGCAGATCAGGGCCACACGC	0.577000														208			10		0	0	0.00136819	0	0
PLIN5	440503	broad.mit.edu	37	19	4523746	4523747	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr19:4523746_4523747CC>GT	uc002mas.3	-	7	1238_1239	c.1185_1186GG>AC	c.(1183-1188)ctggtg>ctACtg	p.V396L		NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN	Homo sapiens perilipin 5 (PLIN5), mRNA.	396						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						ACCTCGTCCACCAGGTCCGCCA	0.728000														45			18		0	0	6.4e-05	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125262126	125262126	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr2:125262126C>T	uc010flu.3	+	7	1684	c.1320C>T	c.(1318-1320)atC>atT	p.I440I	CNTNAP5_uc002tno.3_Silent_p.I439I	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	439	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TAGCTGAAATCCTCACAGGTA	0.498000														5			3		0	0	0.00024832	0	0
KIAA1210	57481	broad.mit.edu	37	X	118222375	118222375	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chrX:118222375C>T	uc004era.4	-	10	2818	c.2818G>A	c.(2818-2820)Gat>Aat	p.D940N		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	940										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TCCACGGAATCGCTCTGTTTT	0.512000														27			6		0	0	0.00198382	0	0
FBXL18	80028	broad.mit.edu	37	7	5521422	5521422	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr7:5521422G>A	uc003son.4	-	4	2235	c.2141C>T	c.(2140-2142)cCg>cTg	p.P714L		NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	0									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CCACAGGTTCGGCGGTTCCTC	0.632000														118			62		0	0	0.000781405	0	0
GRIA2	2891	broad.mit.edu	37	4	158242727	158242727	+	Silent	SNP	T	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr4:158242727T>A	uc003ipm.4	+	5	1317	c.858T>A	c.(856-858)ccT>ccA	p.P286P	GRIA2_uc011cit.2_Silent_p.P239P|GRIA2_uc021xtr.1_Silent_p.P286P|GRIA2_uc003ipl.4_Silent_p.P286P|GRIA2_uc003ipk.4_Silent_p.P239P|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	286					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AAGAATACCCTGGAGCTCACA	0.378000														36			18		0	0	0.000958276	0	0
FBXO32	114907	broad.mit.edu	37	8	124518738	124518738	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr8:124518738C>T	uc003yqr.3	-	6	967	c.728G>A	c.(727-729)gGg>gAg	p.G243E	FBXO32_uc003yqp.2_Missense_Mutation_p.G98E|FBXO32_uc010mdk.3_Missense_Mutation_p.G150E	NM_058229	NP_680482	Q969P5	FBX32_HUMAN	Homo sapiens F-box protein 32 (FBXO32), transcript variant 1, mRNA.	243	F-box.									autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CAGGTCCCGCCCGTCGCTCAG	0.602000														33			23		0	0	0.000720815	0	0
CPT1C	126129	broad.mit.edu	37	19	50200690	50200690	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr19:50200690G>A	uc010eng.3	+	3	565	c.249G>A	c.(247-249)ctG>ctA	p.L83L	CPT1C_uc002ppl.4_Silent_p.L83L|CPT1C_uc002ppi.3_5'UTR|CPT1C_uc002ppk.3_Silent_p.L83L|CPT1C_uc010enh.3_Silent_p.L83L|CPT1C_uc002ppj.3_Silent_p.L83L|CPT1C_uc010ybc.1_5'UTR	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	83					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CCTTAGGACTGATGGAGAAGA	0.557000														89			19		0	0	0.00229938	0	0
FLG	2312	broad.mit.edu	37	1	152285304	152285304	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr1:152285304C>T	uc001ezu.1	-	2	2094	c.2058G>A	c.(2056-2058)caG>caA	p.Q686Q	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	686	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGAGGAATTCTGTGTGTGAC	0.552000									Ichthyosis					299			100		0	0	0.000781405	0	0
FAT4	79633	broad.mit.edu	37	4	126411726	126411726	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr4:126411726C>T	uc003ifj.4	+	16	13749	c.13749C>T	c.(13747-13749)atC>atT	p.I4583I	FAT4_uc011cgp.2_Silent_p.I2824I|FAT4_uc003ifi.1_Silent_p.I2060I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4583					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AACCAGATATCATTGAAAGGG	0.478000														64			11		0	0	0.000673444	0	0
KIAA1549	57670	broad.mit.edu	37	7	138583706	138583706	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr7:138583706G>A	uc011kql.2	-	8	3891	c.3842C>T	c.(3841-3843)gCc>gTc	p.A1281V	KIAA1549_uc011kqi.2_Missense_Mutation_p.A65V|KIAA1549_uc011kqk.2_Missense_Mutation_p.A65V|KIAA1549_uc011kqj.2_Missense_Mutation_p.A1281V	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1281						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CTTACGCTGGGCAATGACACC	0.512000			O	BRAF	pilocytic astrocytoma									79			19		0	0	0.00152264	0	0
C2orf16	84226	broad.mit.edu	37	2	27804235	27804235	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr2:27804235C>T	uc002rkz.4	+	0	4847	c.4796C>T	c.(4795-4797)tCc>tTc	p.S1599F	ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1599	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AAAAACCATTCCAGTCCTTCT	0.552000														64			8		0	0	0.000442599	0	0
SPINK14	408187	broad.mit.edu	37	5	147549342	147549342	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr5:147549342T>A	uc003loz.1	+	0	47	c.47T>A	c.(46-48)aTa>aAa	p.I16K		NM_001001325	NP_001001325	Q6IE38	ISK14_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 14 (putative) (SPINK14), mRNA.	16						extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|large_intestine(1)|lung(1)	3						TTTATCTTGATACATTTGGTG	0.388000														4			6		0	0	0.00116845	0	0
RIN3	79890	broad.mit.edu	37	14	93151488	93151488	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr14:93151488C>T	uc001yap.3	+	8	2776	c.2624C>T	c.(2623-2625)tCc>tTc	p.S875F	RIN3_uc010auk.3_Missense_Mutation_p.S537F|RIN3_uc001yaq.3_Missense_Mutation_p.S800F|RIN3_uc001yas.1_Missense_Mutation_p.S537F	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	875					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	p.S875F(2)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				TCCCGCTCCTCCGTACAGGTG	0.672000														12			4		0	0	0.00024832	0	0
ZNF704	619279	broad.mit.edu	37	8	81733664	81733664	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr8:81733664G>A	uc003yby.2	-	1	398	c.166C>T	c.(166-168)Ctc>Ttc	p.L56F		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	Homo sapiens zinc finger protein 704 (ZNF704), mRNA.	56						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TGCTCAAGGAGACAGATGGAG	0.453000														117			26		0	0	0.00106085	0	0
RXFP2	122042	broad.mit.edu	37	13	32363266	32363266	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr13:32363266G>A	uc001utt.3	+	13	1152	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	RXFP2_uc010aba.3_Missense_Mutation_p.E337K	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	361						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CAGAGACCTGGAAAGGATAGA	0.343000														37			9		0	0	0.000442599	0	0
IKZF5	64376	broad.mit.edu	37	10	124753954	124753954	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr10:124753954G>A	uc001lha.2	-	4	901	c.602C>T	c.(601-603)cCa>cTa	p.P201L	AK023288_uc021qaj.1_5'Flank	NM_022466	NP_071911	Q9H5V7	IKZF5_HUMAN	Homo sapiens IKAROS family zinc finger 5 (Pegasus) (IKZF5), mRNA.	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		CATGGAAGGTGGACTTAAGTT	0.423000														113			72		0	0	0.000781405	0	0
DUSP9	1852	broad.mit.edu	37	X	152914836	152914836	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chrX:152914836G>A	uc004fhx.4	+	2	727	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	DUSP9_uc004fhy.4_Missense_Mutation_p.E175K	NM_001395	NP_001386	Q99956	DUS9_HUMAN	Homo sapiens dual specificity phosphatase 9 (DUSP9), mRNA.	175					JNK cascade|inactivation of MAPK activity	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCTGATGCGGAATCCGAGGC	0.692000														49			10		0	0	0.00136819	0	0
EN2	2020	broad.mit.edu	37	7	155255095	155255095	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr7:155255095A>G	uc003wmb.3	+	1	964	c.715A>G	c.(715-717)Aac>Gac	p.N239D		NM_001427	NP_001418	P19622	HME2_HUMAN	Homo sapiens engrailed homeobox 2 (EN2), mRNA.	239						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAAGAAGAAGAACCCGAACAA	0.582000														82			9		0	0	0.000274275	0	0
RGS7	6000	broad.mit.edu	37	1	241262011	241262011	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr1:241262011G>A	uc001hyv.2	-	2	460	c.130C>T	c.(130-132)Cgt>Tgt	p.R44C	RGS7_uc010pyh.2_Missense_Mutation_p.R18C|RGS7_uc010pyj.1_5'UTR|RGS7_uc001hyu.2_Missense_Mutation_p.R44C|RGS7_uc009xgn.1_Missense_Mutation_p.R44C|RGS7_uc001hyw.2_Missense_Mutation_p.R44C	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	44	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.R44S(3)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTGACCGTACGAATAGGAATT	0.358000														49			10		0	0	0.000978159	0	0
KIAA0664	23277	broad.mit.edu	37	17	2603696	2603696	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr17:2603696G>A	uc002fuy.1	-	8	1218	c.1132C>T	c.(1132-1134)Cga>Tga	p.R378*	KIAA0664_uc002fux.1_Nonsense_Mutation_p.R310*	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	378							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						GCCCTTTCTCGGAGCAGCCGC	0.602000														25			5		0	0	0.000602214	0	0
GSTP1	2950	broad.mit.edu	37	11	67353993	67353993	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr11:67353993T>C	uc001omf.3	+	6	827	c.578T>C	c.(577-579)tTc>tCc	p.F193S		NM_000852	NP_000843	P09211	GSTP1_HUMAN	Homo sapiens glutathione S-transferase pi 1 (GSTP1), mRNA.	193	GST C-terminal.				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of JUN kinase activity|negative regulation of acute inflammatory response|negative regulation of fibroblast proliferation|negative regulation of interleukin-1 beta production|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	JUN kinase binding|S-nitrosoglutathione binding|dinitrosyl-iron complex binding|glutathione transferase activity|kinase regulator activity|nitric oxide binding			central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Ethacrynic acid(DB00903)|Glutathione(DB00143)	CTCAAGGCCTTCCTGGCCTCC	0.622000														21			13		0	0	0.00244969	0	0
DDX51	317781	broad.mit.edu	37	12	132627336	132627336	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr12:132627336G>A	uc001ujy.4	-	2	646	c.607C>T	c.(607-609)Cct>Tct	p.P203S	NOC4L_uc001ujz.1_5'Flank	NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 (DDX51), mRNA.	203					rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		TGGACGTCAGGGATGTCCTCG	0.592000														127			19		0	0	0.00188189	0	0
TTF2	8458	broad.mit.edu	37	1	117618345	117618345	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr1:117618345C>G	uc001egy.3	+	4	1159	c.1139C>G	c.(1138-1140)aCg>aGg	p.T380R	TTF2_uc001egx.1_Missense_Mutation_p.T380R	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.	380					RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		GACTTAGAGACGAAGGAAAAC	0.517000														37			7		0	0	0.00198382	0	0
RARRES3	5920	broad.mit.edu	37	11	63313708	63313708	+	Missense_Mutation	SNP	C	A	A	rs74932327		TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr11:63313708C>A	uc001nxf.4	+	3	543	c.475C>A	c.(475-477)Caa>Aaa	p.Q159K		NM_004585	NP_004576	Q9UL19	TIG3_HUMAN	Homo sapiens retinoic acid receptor responder (tazarotene induced) 3 (RARRES3), mRNA.	159					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						TAGGAGATACCAAAAAAAAGC	0.542000														143			12		0.00136819	0.00784574	0.00136819	1	0
KEL	3792	broad.mit.edu	37	7	142640645	142640645	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr7:142640645G>A	uc003wcb.3	-	14	1841	c.1631C>T	c.(1630-1632)tCg>tTg	p.S544L		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	544					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GTCAGATACCGAATAGTAAGC	0.557000														96			8		0	0	0.000673444	0	0
MOV10L1	54456	broad.mit.edu	37	22	50598106	50598107	+	Splice_Site	DNP	GG	AA	AA			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr22:50598106_50598107GG>AA	uc003bjj.3	+	24	3300	c.3217_splice	c.e24-1	p.V1073_splice	MOV10L1_uc003bjk.4_Splice_Site_p.V1073_splice|MOV10L1_uc011arp.2_Splice_Site_p.V1053_splice|MOV10L1_uc003bjl.3_Splice_Site_p.V200_splice	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	1073					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CTGTTCTCAAGGTGGAGAAAAT	0.342000														48			15		0	0	6.4e-05	0	0
ZC4H2	55906	broad.mit.edu	37	X	64138969	64138969	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chrX:64138969C>T	uc004dvu.3	-	3	670	c.514G>A	c.(514-516)Gat>Aat	p.D172N	ZC4H2_uc004dvv.3_Missense_Mutation_p.D149N|ZC4H2_uc022byd.1_Missense_Mutation_p.D149N|ZC4H2_uc022byc.1_Missense_Mutation_p.D149N|ZC4H2_uc011mow.2_Intron|ZC4H2_uc011mov.2_Missense_Mutation_p.D149N|ZC4H2_uc004dvw.2_3'UTR	NM_018684	NP_001230733	Q9NQZ6	ZC4H2_HUMAN	Homo sapiens zinc finger, C4H2 domain containing (ZC4H2), transcript variant 1, mRNA.	172							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TGCCGAGTATCCTGCTTCCTA	0.597000														31			17		0	0	0.000566183	0	0
KIF27	55582	broad.mit.edu	37	9	86451956	86451956	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr9:86451956G>A	uc004ana.3	-	17	4310	c.4166C>T	c.(4165-4167)tCc>tTc	p.S1389F	KIF27_uc010mpw.3_Missense_Mutation_p.S1323F|KIF27_uc010mpx.3_Missense_Mutation_p.S1292F	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	Homo sapiens kinesin family member 27 (KIF27), mRNA.	1389					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TACTTCGATGGAATCAGCAGC	0.363000														29			25		0	0	0.000586117	0	0
PLXNC1	10154	broad.mit.edu	37	12	94673381	94673381	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr12:94673381A>G	uc001tdc.3	+	21	3980	c.3731A>G	c.(3730-3732)aAa>aGa	p.K1244R	PLXNC1_uc010sut.2_Missense_Mutation_p.K291R|PLXNC1_uc009zsv.3_5'UTR	NM_005761	NP_005752	O60486	PLXC1_HUMAN	Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.	1244					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTCTTAAGCAAAAATGGCTCT	0.478000														84			17		0	0	0.00152264	0	0
SLC12A7	10723	broad.mit.edu	37	5	1081726	1081726	+	Silent	SNP	G	A	A	rs113279957		TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr5:1081726G>A	uc003jbu.3	-	8	1329	c.1263C>T	c.(1261-1263)acC>acT	p.T421T		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	421					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CAACCAGCAGGGTGAAGGAGG	0.607000														25			11		0	0	0.00136819	0	0
ARSD	414	broad.mit.edu	37	X	2825553	2825553	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chrX:2825553G>A	uc004cqy.3	-	9	1641	c.1541C>T	c.(1540-1542)cCt>cTt	p.P514L		NM_001669	NP_001660	P51689	ARSD_HUMAN	Homo sapiens arylsulfatase D (ARSD), mRNA.	514						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AAAGAGCAAAGGGGGTCTGTG	0.692000														11			4		0	0	0.000602214	0	0
OCRL	4952	broad.mit.edu	37	X	128691357	128691357	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chrX:128691357C>T	uc004euq.3	+	4	459	c.294C>T	c.(292-294)atC>atT	p.I98I	OCRL_uc004eur.3_Silent_p.I98I	NM_000276	NP_000267	Q01968	OCRL_HUMAN	Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.	98					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi stack|Golgi-associated vesicle|clathrin-coated vesicle|cytosol|early endosome	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GCTTTGAAATCCCTGATGAGG	0.433000														47			36		0	0	0.00222228	0	0
SQSTM1	8878	broad.mit.edu	37	5	179260650	179260650	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr5:179260650G>A	uc003mkw.4	+	6	1128	c.1033G>A	c.(1033-1035)Gaa>Aaa	p.E345K	SQSTM1_uc011dgr.2_Missense_Mutation_p.E261K|SQSTM1_uc011dgs.2_Missense_Mutation_p.E261K|SQSTM1_uc003mkx.3_Missense_Mutation_p.E261K	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	Homo sapiens sequestosome 1 (SQSTM1), transcript variant 1, mRNA.	345	Interaction with NTRK1 (By similarity).				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	SH2 domain binding|protein kinase C binding|receptor tyrosine kinase binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCTTCAAAAGAAGTGGACCC	0.542000														36			14		0	0	0.00244969	0	0
SEPT9	10801	broad.mit.edu	37	17	75398448	75398449	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr17:75398448_75398449CC>TT	uc002jts.4	+	2	510_511	c.384_385CC>TT	c.(382-387)tcccgg>tcTTgg	p.R129W	SEPT9_uc010wtk.2_Missense_Mutation_p.R110W|SEPT9_uc002jtt.4_5'UTR|SEPT9_uc002jtu.4_Missense_Mutation_p.R111W|SEPT9_uc002jtv.3_Missense_Mutation_p.R122W|SEPT9_uc002jtw.3_5'UTR|SEPT9_uc002jtx.1_5'UTR|SEPT9_uc010wtl.2_5'Flank	NM_001113491	NP_001106968	Q9UHD8	SEPT9_HUMAN	Homo sapiens septin 9 (SEPT9), transcript variant 1, mRNA.	129					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			TCGGCCCGTCCCGGTTCGGGCT	0.678000														16			25		0	0	6.4e-05	0	0
ZNF341	84905	broad.mit.edu	37	20	32369172	32369172	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr20:32369172C>T	uc002wzy.3	+	10	1718	c.1698C>T	c.(1696-1698)ttC>ttT	p.F566F	ZNF341_uc002wzx.3_Silent_p.F559F|ZNF341_uc010geq.3_Silent_p.F476F|ZNF341_uc010ger.3_Intron	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CTCACAACTTCCCCTGCCCAC	0.577000														65			37		0	0	0.00128727	0	0
KRT79	338785	broad.mit.edu	37	12	53216811	53216811	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr12:53216811G>A	uc001sbb.3	-	6	1389	c.1356C>T	c.(1354-1356)agC>agT	p.S452S	KRT79_uc001sba.3_Silent_p.S223S	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	452	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGCTCTCCTCGCTCTCCAGAA	0.652000														29			10		0	0	0.00136819	0	0
CDH10	1008	broad.mit.edu	37	5	24488092	24488092	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr5:24488092C>T	uc003jgr.2	-	11	2553	c.2047G>A	c.(2047-2049)Gaa>Aaa	p.E683K	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	683					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E682G(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTTTTTTTCCTCAATGGCT	0.478000										HNSCC(23;0.051)				17			7		0	0	0.000274275	0	0
CTPS2	56474	broad.mit.edu	37	X	16688706	16688706	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chrX:16688706G>A	uc004cxk.3	-	10	1930	c.1186C>T	c.(1186-1188)Ctg>Ttg	p.L396L	CTPS2_uc004cxl.3_Silent_p.L396L|CTPS2_uc004cxm.3_Silent_p.L396L	NM_001144002	NP_787055	Q9NRF8	PYRG2_HUMAN	Homo sapiens CTP synthase II (CTPS2), transcript variant 3, mRNA.	396	Glutamine amidotransferase type-1.				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					GTTTTACCCAGAAAAGGAATC	0.403000														178			75		0	0	0.000781405	0	0
MTOR	2475	broad.mit.edu	37	1	11199666	11199666	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr1:11199666G>A	uc001asd.3	-	34	5043	c.4922C>T	c.(4921-4923)tCc>tTc	p.S1641F		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	1641	FAT.				T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GACCACAAGGGACCGCACCAT	0.502000														86			30		0	0	0.000814825	0	0
PITPNM3	83394	broad.mit.edu	37	17	6387073	6387073	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr17:6387073C>T	uc002gdd.4	-	6	503	c.352_splice	c.e6-1	p.E118_splice	PITPNM3_uc010cln.3_Splice_Site_p.E82_splice|PITPNM3_uc002gdc.4_5'Flank	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA.	118					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GGCAGCCTTCCTGAGAGCCAA	0.627000														14			19		0	0	0.000958276	0	0
USP8	9101	broad.mit.edu	37	15	50733667	50733667	+	Nonsense_Mutation	SNP	A	T	T	rs148744702		TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr15:50733667A>T	uc001zym.4	+	3	726	c.226A>T	c.(226-228)Aga>Tga	p.R76*	USP8_uc001zyk.1_5'UTR|USP8_uc001zyl.4_Nonsense_Mutation_p.R76*|USP8_uc001zyn.4_Nonsense_Mutation_p.R76*|USP8_uc010ufh.2_Intron|USP8_uc010bev.1_5'UTR	NM_001128611	NP_005145	P40818	UBP8_HUMAN	Homo sapiens ubiquitin specific peptidase 8 (USP8), transcript variant 3, mRNA.	76	MIT.				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	SH3 domain binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TATCAAAAAAAGACCTGATTT	0.303000														32			15		0	0	0.000422831	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140750352	140750352	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr5:140750352C>T	uc003ljw.2	+	0	391	c.391C>T	c.(391-393)Ccg>Tcg	p.P131S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc011dat.2_Missense_Mutation_p.P131S	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	131	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACAACCCACCGACCTTTAG	0.448000														80			70		0	0	0.000781405	0	0
ZNF783	100289678	broad.mit.edu	37	7	148975604	148975604	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr7:148975604C>T	uc011kuo.2	+	4	951	c.788C>T	c.(787-789)gCc>gTc	p.A263V	AF035281_uc003wfr.4_Non-coding_Transcript	NM_001195220	NP_001182149	C9J9J2	C9J9J2_HUMAN	Homo sapiens zinc finger family member 783 (ZNF783), mRNA.	263					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			GTGGCCCCAGCCGGGCCAGAA	0.642000														29			11		0	0	0.00185496	0	0
MIA2	117153	broad.mit.edu	37	14	39703424	39703424	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr14:39703424G>A	uc001wux.3	+	0	300	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	MIA2_uc010amy.2_5'UTR	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	36	SH3.					extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TGGTGACTTGGAATGTGAAGG	0.408000														7			6		0	0	0.00116845	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342363	60342363	+	RNA	SNP	C	G	G			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr17:60342363C>G	uc010woz.2	-	13		c.1766G>C								Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						GCCATGAGCCCTGGCCCAGAT	0.493000														134			8		0	0	0.000308642	0	0
PCDH10	57575	broad.mit.edu	37	4	134072858	134072858	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr4:134072858G>A	uc003iha.3	+	0	2389	c.1563G>A	c.(1561-1563)gaG>gaA	p.E521E	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Silent_p.E521E	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	521	Cadherin 5.				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)		TCAACTCTGAGAACGGCTACT	0.602000														86			35		0	0	0.000814825	0	0
DSC3	1825	broad.mit.edu	37	18	28605779	28605779	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr18:28605779C>T	uc002kwj.4	-	4	732	c.577G>A	c.(577-579)Gga>Aga	p.G193R	DSC3_uc002kwi.4_Missense_Mutation_p.G193R	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	193	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			AATAGATTTCCAGTGTCTCTT	0.333000														23			7		0	0	0.00198382	0	0
MTHFD1	4522	broad.mit.edu	37	14	64906890	64906890	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr14:64906890C>T	uc001xhb.3	+	17	2108	c.1721C>T	c.(1720-1722)gCt>gTt	p.A574V	MTHFD1_uc010aqe.2_Missense_Mutation_p.A610V|MTHFD1_uc010aqf.3_Missense_Mutation_p.A630V	NM_005956	NP_005947	P11586	C1TC_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA.	574	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GCTGTCCTGGCTCTCACCACT	0.493000														73			38		0	0	0.00170553	0	0
LRRC56	115399	broad.mit.edu	37	11	554044	554044	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr11:554044C>T	uc010qvz.2	+	13	1902	c.1397C>T	c.(1396-1398)cCg>cTg	p.P466L		NM_198075	NP_932341	Q8IYG6	LRC56_HUMAN	Homo sapiens leucine rich repeat containing 56 (LRRC56), mRNA.	466										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCAGCTCCCCGCGGTGGTCG	0.677000														39			13		0	0	0.000566183	0	0
CXCL6	6372	broad.mit.edu	37	4	74702991	74702991	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr4:74702991A>T	uc003hhf.3	+	2	509	c.314A>T	c.(313-315)aAa>aTa	p.K105I		NM_002993	NP_002984	P80162	CXCL6_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2) (CXCL6), mRNA.	105					cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GTCATCCAGAAAATTTTGGAC	0.403000														55			19		0	0	0.00229938	0	0
F8	2157	broad.mit.edu	37	X	154124378	154124378	+	Nonsense_Mutation	SNP	G	A	A	rs137852356		TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chrX:154124378G>A	uc004fmt.3	-	21	6574	c.6403C>T	c.(6403-6405)Cga>Tga	p.R2135*	F8_uc010nvi.1_3'UTR	NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	2135	F5/8 type C 1.		R -> P (in HEMA; severe).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GAATTTCCTCGATAAGTCTGC	0.408000														107			27		0	0	0.001512	0	0
ZNF470	388566	broad.mit.edu	37	19	57089571	57089571	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr19:57089571C>T	uc002qnl.4	+	5	2450	c.1774C>T	c.(1774-1776)Ccg>Tcg	p.P592S	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	592					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TGGCAAAAGACCGTATGAATG	0.428000														26			5		0	0	0.000602214	0	0
ABCB8	11194	broad.mit.edu	37	7	150730720	150730720	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr7:150730720C>T	uc003wil.4	+	2	268	c.175C>T	c.(175-177)Ctc>Ttc	p.L59F	ABCB8_uc003wii.2_Missense_Mutation_p.L79F|ABCB8_uc010lpw.1_Intron|ABCB8_uc010lpx.3_Missense_Mutation_p.L42F|ABCB8_uc011kvd.2_Intron|ABCB8_uc003wim.4_Intron|ABCB8_uc003wik.4_Missense_Mutation_p.L42F	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 8 (ABCB8), nuclear gene encoding mitochondrial protein, mRNA.	59						ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGCTCCTCCCTCCTCCGGGC	0.677000														61			29		0	0	0.00111076	0	0
RNPS1	10921	broad.mit.edu	37	16	2305647	2305647	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr16:2305647G>A	uc002cpt.3	-	6	1303	c.757C>T	c.(757-759)Ccc>Tcc	p.P253S	RNPS1_uc002cpu.3_Missense_Mutation_p.P253S|RNPS1_uc002cpw.3_Missense_Mutation_p.P253S|RNPS1_uc002cpx.3_Missense_Mutation_p.P230S|RNPS1_uc010uwa.2_Non-coding_Transcript	NM_080594	NP_542161	Q15287	RNPS1_HUMAN	Homo sapiens RNA binding protein S1, serine-rich domain (RNPS1), transcript variant 2, mRNA.	253	Arg/Pro-rich.|Necessary for interaction with TRA2B, nuclear localization and exon-skipping.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription	cytosol|nuclear speck	mRNA 3'-UTR binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						ATTCTCCTGGGAGGGCTGAAT	0.572000														43			26		0	0	0.00106085	0	0
PTPRH	5794	broad.mit.edu	37	19	55707899	55707899	+	Missense_Mutation	SNP	C	T	T	rs145253735	by1000genomes	TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr19:55707899C>T	uc002qjq.3	-	9	2321	c.2248G>A	c.(2248-2250)Gag>Aag	p.E750K	PTPRH_uc010esv.3_Missense_Mutation_p.E572K|PTPRH_uc002qjs.2_Missense_Mutation_p.E757K	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	750					apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCTGCACTCTCGGTGTGGCAG	0.597000														44			17		0	0	0.00188189	0	0
SNTG2	54221	broad.mit.edu	37	2	1079206	1079206	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr2:1079206G>A	uc002qwq.3	+	1	204	c.75G>A	c.(73-75)acG>acA	p.T25T	SNTG2_uc002qwp.3_Non-coding_Transcript|SNTG2_uc010ewi.3_Silent_p.T25T	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	25					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding	p.T25T(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CCCTACAGACGAAAACCACTA	0.478000														117			12		0	0	0.000308642	0	0
NLRP7	199713	broad.mit.edu	37	19	55450542	55450542	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr19:55450542C>T	uc002qih.4	-	3	1721	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	NLRP7_uc010esk.3_Missense_Mutation_p.E549K|NLRP7_uc002qig.4_Missense_Mutation_p.E549K|NLRP7_uc002qii.4_Missense_Mutation_p.E549K|NLRP7_uc010esl.3_Missense_Mutation_p.E577K	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	549							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGCAGCAATTCCTGTTTGATG	0.512000														59			14		0	0	0.000308642	0	0
HSPA1L	3305	broad.mit.edu	37	6	31779099	31779099	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr6:31779099C>T	uc003nxh.3	-	1	834	c.651G>A	c.(649-651)ggG>ggA	p.G217G	HSPA1L_uc010jte.3_Silent_p.G217G|HSPA1L_uc021yuz.1_Silent_p.G217G	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	217					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CCTCAAAAATCCCATCATCTA	0.483000														500			93		0	0	0.000781405	0	0
UGT2B4	7363	broad.mit.edu	37	4	70350966	70350966	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr4:70350966C>T	uc003hek.4	-	4	1317	c.1270G>A	c.(1270-1272)Gac>Aac	p.D424N	UGT2B4_uc011cap.2_Missense_Mutation_p.D288N|UGT2B4_uc003hel.4_Intron	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	424					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TTGAGTAAGTCTGTACTCGAC	0.413000														38			8		0	0	0.000442599	0	0
NALCN	259232	broad.mit.edu	37	13	101762990	101762990	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr13:101762990G>A	uc001vox.1	-	19	2533	c.2344C>T	c.(2344-2346)Ctt>Ttt	p.L782F		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	782						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.S781Y(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAAGTTTCAAGAGATTTTCCC	0.383000														3			5		0	0	0.00198382	0	0
PDGFRA	5156	broad.mit.edu	37	4	54319182	54319182	+	Silent	SNP	C	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr4:54319182C>A	uc003gzy.3	+	15	1567	c.1381C>A	c.(1381-1383)Cga>Aga	p.R461R	PDGFRA_uc003haa.3_Intron|PDGFRA_uc011bzu.2_Silent_p.R455R|PDGFRA_uc003gzz.3_Silent_p.R387R|PDGFRA_uc003hab.3_Silent_p.R426R|PDGFRA_uc010ign.3_Non-coding_Transcript|FIP1L1_uc003hae.3_Silent_p.T45T	NM_030917	NP_112179	P16234	PGFRA_HUMAN	Homo sapiens FIP1 like 1 (S. cerevisiae) (FIP1L1), transcript variant 1, mRNA.	0	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.S461S(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	agagaaagaccgagatagaga	0.522000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				27			4		0.000602214	0.00346881	0.000602214	1	0
OPALIN	93377	broad.mit.edu	37	10	98105749	98105749	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr10:98105749C>T	uc001kmj.3	-	5	814	c.375G>A	c.(373-375)atG>atA	p.M125I	OPALIN_uc010qor.2_Missense_Mutation_p.M115I|OPALIN_uc001kmi.3_Missense_Mutation_p.M115I|OPALIN_uc001kmk.3_Missense_Mutation_p.M102I|OPALIN_uc010qos.2_Non-coding_Transcript	NM_033207	NP_149984	Q96PE5	OPALI_HUMAN	Homo sapiens oligodendrocytic myelin paranodal and inner loop protein (OPALIN), transcript variant 1, mRNA.	125						Golgi apparatus|integral to membrane|plasma membrane		p.M125T(1)		breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						TCCTTCTTTCCATTTCTATAG	0.512000														6			5		0	0	0.00116845	0	0
SPEG	10290	broad.mit.edu	37	2	220354160	220354160	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr2:220354160T>G	uc010fwg.3	+	35	8420	c.8420T>G	c.(8419-8421)cTa>cGa	p.L2807R		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2807	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCCCCACCCCTAGCTCCTGCT	0.662000														33			4		0	0	0.000602214	0	0
SPAM1	6677	broad.mit.edu	37	7	123594288	123594288	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr7:123594288C>T	uc003vle.3	+	2	1103	c.664C>T	c.(664-666)Ccg>Tcg	p.P222S	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.P222S|SPAM1_uc022aks.1_Missense_Mutation_p.P222S|SPAM1_uc003vlf.4_Missense_Mutation_p.P222S|SPAM1_uc010lku.3_Missense_Mutation_p.P222S	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	222					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.P222L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TTATCTTTTTCCGGATTGTTA	0.363000														15			6		0	0	0.00198382	0	0
AL117485	0	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	C	C			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr22:18844763T>C	uc002zoe.3	+	3		c.2017T>C			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		TCACAGCCTCTGAGGGCAGCA	0.562000														11			4		0	0	0.000602214	0	0
USP43	124739	broad.mit.edu	37	17	9632267	9632267	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr17:9632267C>T	uc010cod.3	+	14	3332	c.3332C>T	c.(3331-3333)tCt>tTt	p.S1111F	USP43_uc002gma.4_Missense_Mutation_p.S800F|USP43_uc010vva.2_Missense_Mutation_p.S1106F|USP43_uc010coe.3_Missense_Mutation_p.S908F|USP43_uc002gmc.4_Missense_Mutation_p.S623F	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA.	1111					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CACACTCTTTCTTTAGGTCGA	0.507000											OREG0024168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		154			29		0	0	0.00209593	0	0
PTPRB	5787	broad.mit.edu	37	12	70949773	70949773	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr12:70949773C>T	uc001swb.4	-	16	4246	c.4216G>A	c.(4216-4218)Gaa>Aaa	p.E1406K	PTPRB_uc010sto.2_Missense_Mutation_p.E1316K|PTPRB_uc010stp.2_Missense_Mutation_p.E1316K|PTPRB_uc001swc.4_Missense_Mutation_p.E1624K|PTPRB_uc001swa.4_Missense_Mutation_p.E1536K	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1406	Fibronectin type-III 16.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGAGATTTTTCTTTCTCCAGC	0.468000														11			4		0	0	0.000602214	0	0
SLC6A20	54716	broad.mit.edu	37	3	45817435	45817435	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr3:45817435C>T	uc011bai.2	-	3	524	c.400G>A	c.(400-402)Ggc>Agc	p.G134S	SLC6A20_uc011baj.2_Missense_Mutation_p.G134S	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	134					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		TCATCGTAGCCCGTGTGGTTA	0.567000														72			23		0	0	0.00127121	0	0
MAGED1	9500	broad.mit.edu	37	X	51638416	51638416	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chrX:51638416A>G	uc004dpn.3	+	3	671	c.481A>G	c.(481-483)Aac>Gac	p.N161D	MAGED1_uc004dpm.3_Missense_Mutation_p.N105D|MAGED1_uc004dpo.3_Missense_Mutation_p.N105D|MAGED1_uc011mnx.1_Intron	NM_001005333	NP_001005333	Q9Y5V3	MAGD1_HUMAN	Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA.	105					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GGATGTGCCCAACACGCAGCC	0.502000										Multiple Myeloma(10;0.10)				21			5		0	0	0.00116845	0	0
ABCC9	10060	broad.mit.edu	37	12	22025665	22025665	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr12:22025665C>T	uc001rfh.3	-	16	2113	c.2093_splice	c.e16-1	p.G698_splice	ABCC9_uc001rfi.1_Splice_Site_p.G698_splice	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	698	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GTTAACTGACCTAGGAAAGCA	0.403000														103			45		0	0	0.000781405	0	0
DDX28	55794	broad.mit.edu	37	16	68056616	68056616	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr16:68056616G>A	uc002evh.2	-	0	1155	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C	DUS2L_uc002evi.3_5'Flank|DUS2L_uc002evj.3_5'Flank|DUS2L_uc010vkk.2_5'Flank	NM_018380	NP_060850	Q9NUL7	DDX28_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 28 (DDX28), nuclear gene encoding mitochondrial protein, mRNA.	164	Helicase ATP-binding.					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		TGGCGGCCGCGAAGTAGTGAG	0.642000														25			11		0	0	0.000978159	0	0
IQCC	55721	broad.mit.edu	37	1	32673199	32673199	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr1:32673199G>A	uc009vua.2	+	4	1204	c.1157G>A	c.(1156-1158)aGa>aAa	p.R386K	IQCC_uc001bum.2_Missense_Mutation_p.R306K|IQCC_uc010ogz.1_Missense_Mutation_p.R206K|DCDC2B_uc001bun.2_5'Flank	NM_001160042	NP_001153514	Q4KMZ1	IQCC_HUMAN	Homo sapiens IQ motif containing C (IQCC), transcript variant 1, mRNA.	306										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GACGATGGAAGACAGACCTTT	0.552000														52			7		0	0	0.00198382	0	0
U2SURP	23350	broad.mit.edu	37	3	142769799	142769799	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr3:142769799C>T	uc003evh.1	+	24	2662	c.2563C>T	c.(2563-2565)Cag>Tag	p.Q855*	U2SURP_uc003evi.1_Nonsense_Mutation_p.Q446*|U2SURP_uc003evj.1_Non-coding_Transcript|U2SURP_uc003evk.1_Nonsense_Mutation_p.Q854*|U2SURP_uc003evl.1_Nonsense_Mutation_p.Q422*	NM_001080415	NP_001073884	O15042	SR140_HUMAN	Homo sapiens U2 snRNP-associated SURP domain containing (U2SURP), mRNA.	855	Glu-rich.				RNA processing	nucleus	RNA binding|nucleotide binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						TATGAAGTTTCAGGATGAATT	0.333000														52			11		0	0	0.000978159	0	0
PCDH17	27253	broad.mit.edu	37	13	58208094	58208094	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr13:58208094T>C	uc001vhq.1	+	0	2306	c.1414T>C	c.(1414-1416)Ttc>Ctc	p.F472L	PCDH17_uc010aec.1_Missense_Mutation_p.F472L	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	472	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCCGCCTCGGTTCACCAAAGG	0.617000														29			5		0	0	0.000602214	0	0
DLX2	1746	broad.mit.edu	37	2	172966256	172966256	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr2:172966256C>T	uc002uhn.3	-	1	731	c.519G>A	c.(517-519)aaG>aaA	p.K173K	DLX2_uc010zdx.1_Silent_p.K173K	NM_004405	NP_004396	Q07687	DLX2_HUMAN	Homo sapiens distal-less homeobox 2 (DLX2), mRNA.	173						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			AGTATTGAGTCTTTTGGAAAC	0.617000														26			17		0	0	0.00074312	0	0
SPATA8	145946	broad.mit.edu	37	15	97326971	97326971	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr15:97326971C>A	uc002bue.3	+	0	293	c.86C>A	c.(85-87)cCt>cAt	p.P29H	DQ596112_uc021swx.1_5'Flank|DQ574554_uc021swy.1_5'Flank|DQ593500_uc010uro.1_5'Flank|DQ573064_uc021swz.1_5'Flank|DQ588115_uc021sxa.1_5'Flank|DQ591967_uc021sxb.1_5'Flank|DQ585716_uc021sxc.1_5'Flank|DQ570416_uc021sxd.1_5'Flank|DQ576557_uc010urp.2_5'Flank|DQ593900_uc021sxe.1_5'Flank|DQ594674_uc021sxf.1_5'Flank|DQ599954_uc002bud.2_5'Flank	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	Homo sapiens spermatogenesis associated 8 (SPATA8), mRNA.	29										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			CTGCCTTGTCCTAGGTATCTG	0.522000														33			24		8.24728e-16	4.82626e-15	0.000720815	1	0
KRT20	54474	broad.mit.edu	37	17	39036116	39036116	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr17:39036116C>T	uc002hvl.3	-	4	925	c.867G>A	c.(865-867)ctG>ctA	p.L289L		NM_019010	NP_061883	P35900	K1C20_HUMAN	Homo sapiens keratin 20 (KRT20), mRNA.	289	Coil 2.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				AGGTGCGTCTCAGCTCCGTTA	0.428000														46			41		0	0	0.000781405	0	0
DTNBP1	84062	broad.mit.edu	37	6	15523240	15523240	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr6:15523240G>A	uc003nbm.3	-	9	1211	c.1022C>T	c.(1021-1023)gCc>gTc	p.A341V	DTNBP1_uc003nbl.3_Missense_Mutation_p.A260V	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA.	341					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			ATCCGGAGTGGCCTCTCTGTC	0.572000									Hermansky-Pudlak syndrome					97			36		0	0	0.000814825	0	0
OR10H1	26539	broad.mit.edu	37	19	15918635	15918635	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr19:15918635G>A	uc002nbq.2	-	0	302	c.213C>T	c.(211-213)atC>atT	p.I71I		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CGGTGTAGAGGATCTCGGAGA	0.642000														10			17		0	0	0.00074312	0	0
RMI2	116028	broad.mit.edu	37	16	11444541	11444541	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr16:11444541C>T	uc002daw.1	+	1	356	c.338C>T	c.(337-339)cCt>cTt	p.P113L	RMI2_uc002daq.1_Non-coding_Transcript	NM_152308	NP_689521	Q96E14	RMI2_HUMAN	Homo sapiens RMI2, RecQ mediated genome instability 2, homolog (S. cerevisiae) (RMI2), mRNA.	113					DNA replication	nucleus	DNA binding			endometrium(1)|kidney(1)|ovary(1)	3						GCCTGCAGCCCTGAGCCCTGC	0.423000														87			34		0	0	0.00128727	0	0
BC107108	0	broad.mit.edu	37	15	20362839	20362839	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr15:20362839G>A	uc001yte.1	+	0	152	c.101G>A	c.(100-102)gGa>gAa	p.G34E						RecName: Full=Putative BMS1-like protein ENSP00000383088;																		AACAGCGAGGGAAATGTTGGA	0.498000														53			15		0	0	0.000958276	0	0
LTBP2	4053	broad.mit.edu	37	14	75078537	75078537	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr14:75078537C>T	uc001xqa.3	-	0	498	c.111G>A	c.(109-111)agG>agA	p.R37R		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	37			R -> M (in dbSNP:rs934996).		protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CTACGGGGTCCCTTTGGGCAT	0.706000														37			15		0	0	0.000566183	0	0
PSMD2	5708	broad.mit.edu	37	3	184024179	184024179	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr3:184024179T>A	uc003fnn.1	+	14	1879	c.1846T>A	c.(1846-1848)Tgt>Agt	p.C616S	PSMD2_uc011brj.1_Missense_Mutation_p.C457S|PSMD2_uc011brk.1_Missense_Mutation_p.C486S	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 (PSMD2), mRNA.	616					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GCTCCACATTTGTAGCGAACA	0.488000														141			69		0	0	0.000781405	0	0
SPINK14	408187	broad.mit.edu	37	5	147549340	147549340	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr5:147549340G>A	uc003loz.1	+	0	45	c.45G>A	c.(43-45)ttG>ttA	p.L15L		NM_001001325	NP_001001325	Q6IE38	ISK14_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 14 (putative) (SPINK14), mRNA.	15						extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|large_intestine(1)|lung(1)	3						CCTTTATCTTGATACATTTGG	0.393000														3			6		0	0	0.00116845	0	0
RRN3P2	653390	broad.mit.edu	37	16	29107453	29107453	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr16:29107453G>A	uc010vdm.1	+	11		c.1126_splice	c.e11-1		NPIPL1_uc010vct.2_Intron|RRN3P2_uc002dsf.4_Splice_Site|RRN3P2_uc002dsg.4_Splice_Site|RRN3P2_uc010vdn.2_Splice_Site					Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2 (RRN3P2), non-coding RNA.																		TTTTTATAGGGATTCGCAGAG	0.393000														41			8		0	0	0.000442599	0	0
TEX34	124783	broad.mit.edu	37	17	43332772	43332772	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr17:43332772G>A	uc002iis.1	-	3	873	c.777C>T	c.(775-777)ccC>ccT	p.P259P	LOC100133991_uc010dah.3_Intron|TEX34_uc010wjk.1_Silent_p.P238P	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN	Homo sapiens chromosome 17 open reading frame 46 (C17orf46), mRNA.	259																	GTTCCAAACTGGGCAGGTCCA	0.587000														27			30		0	0	0.001512	0	0
OR2T1	26696	broad.mit.edu	37	1	248569723	248569723	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr1:248569723C>T	uc010pzm.2	+	0	428	c.428C>T	c.(427-429)tCc>tTc	p.S143F		NM_030904	NP_112166	O43869	OR2T1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA.	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGACCATTTCCTTTGTGGGG	0.473000														14			12		0	0	0.000978159	0	0
SOWAHC	65124	broad.mit.edu	37	2	110373044	110373044	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr2:110373044C>T	uc002tfb.3	+	0	1134	c.978C>T	c.(976-978)aaC>aaT	p.N326N	SEPT10_uc010ywu.1_5'Flank|SEPT10_uc002tew.3_5'Flank|SEPT10_uc002tex.3_5'Flank|SEPT10_uc002tey.3_5'Flank|SEPT10_uc010ywv.2_5'Flank	NM_023016	NP_075392	Q53LP3	ANR57_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member C (SOWAHC), mRNA.	326																	ACTTCGCCAACAAACACCAGC	0.627000														50			21		0	0	0.00047179	0	0
CPXM1	56265	broad.mit.edu	37	20	2775247	2775247	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr20:2775247G>A	uc002wgu.3	-	12	1973	c.1899C>T	c.(1897-1899)gaC>gaT	p.D633D	CPXM1_uc010gas.3_Silent_p.D559D	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.	633					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CAAGCTCCGTGTCCTTGTCCC	0.567000														77			34		0	0	0.0025221	0	0
ZNF683	257101	broad.mit.edu	37	1	26691141	26691141	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr1:26691141G>A	uc001bmg.1	-	3	1014	c.896C>T	c.(895-897)cCa>cTa	p.P299L	ZNF683_uc001bmh.1_Missense_Mutation_p.P299L|ZNF683_uc009vsj.1_Missense_Mutation_p.P299L	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GGAACTCAATGGGACCCGCTT	0.587000														124			47		0	0	0.000781405	0	0
NPEPL1	79716	broad.mit.edu	37	20	57269626	57269626	+	Missense_Mutation	SNP	C	A	A	rs139042887	by1000genomes	TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr20:57269626C>A	uc010zzs.1	+	2	580	c.485C>A	c.(484-486)cCg>cAg	p.P162Q	NPEPL1_uc010zzr.2_Missense_Mutation_p.P114Q|NPEPL1_uc010gjo.2_Missense_Mutation_p.P134Q|NPEPL1_uc002xzp.3_Missense_Mutation_p.P50Q	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	Homo sapiens aminopeptidase-like 1 (NPEPL1), transcript variant 1, mRNA.	162					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			GACAACGGGCCGGTGGAGGTG	0.652000														18			14		1.49906e-05	8.71286e-05	0.00244969	1	0
PLEC	5339	broad.mit.edu	37	8	144995804	144995805	+	Silent	DNP	GG	AA	AA			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr8:144995804_144995805GG>AA	uc003zaf.1	-	31	8765_8766	c.8595_8596CC>TT	c.(8593-8598)atcctg>atTTtg	p.2865_2866IL>IL	PLEC_uc003zab.1_Silent_p.2728_2729IL>IL|PLEC_uc003zac.1_Silent_p.2732_2733IL>IL|PLEC_uc003zad.2_Silent_p.2728_2729IL>IL|PLEC_uc003zae.1_Silent_p.2696_2697IL>IL|PLEC_uc003zag.1_Silent_p.2706_2707IL>IL|PLEC_uc003zah.2_Silent_p.2714_2715IL>IL|PLEC_uc003zaj.2_Silent_p.2755_2756IL>IL	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	2865	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCTCCAGCAGGATGAGGGCCG	0.663000														38			14		0	0	6.4e-05	0	0
FAM71B	153745	broad.mit.edu	37	5	156589596	156589596	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr5:156589596G>A	uc003lwn.3	-	1	1780	c.1680C>T	c.(1678-1680)atC>atT	p.I560I		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	560						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTTAGCCACGATATCTACCT	0.483000														150			122		0	0	0.000781405	0	0
SULT1B1	27284	broad.mit.edu	37	4	70599213	70599213	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr4:70599213G>A	uc003hen.3	-	5	813	c.515C>T	c.(514-516)tCc>tTc	p.S172F		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	172					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						AGTAAACCAGGAACCATAGGC	0.294000														93			51		0	0	0.000781405	0	0
FLT1	2321	broad.mit.edu	37	13	29041220	29041220	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr13:29041220C>T	uc001usb.3	-	2	493	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	FLT1_uc010aar.1_Missense_Mutation_p.E70K|FLT1_uc001usc.3_Missense_Mutation_p.E70K|FLT1_uc010tdp.1_Missense_Mutation_p.E70K|FLT1_uc001usd.3_Missense_Mutation_p.E70K	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	70	Ig-like C2-type 1.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CTTTCGCTTTCCTTACTCACC	0.448000														42			18		0	0	0.00152264	0	0
EPHB1	2047	broad.mit.edu	37	3	134898763	134898763	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr3:134898763C>T	uc003eqt.3	+	9	2196	c.1821C>T	c.(1819-1821)gtC>gtT	p.V607V	EPHB1_uc003equ.3_Silent_p.V168V	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	607						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ACGAAGCTGTCCGGGAGTTTG	0.483000														72			38		0	0	0.00128727	0	0
AMFR	267	broad.mit.edu	37	16	56436943	56436943	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr16:56436943G>A	uc002eiy.3	-	6	1133	c.928C>T	c.(928-930)Cgt>Tgt	p.R310C	AMFR_uc002eix.3_Silent_p.F7F	NM_001144	NP_001135	Q9UKV5	AMFR2_HUMAN	Homo sapiens autocrine motility factor receptor (AMFR), mRNA.	310					ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	p.R310C(2)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TTGTGCCGACGAATTCGACGT	0.428000														67			41		0	0	0.0025221	0	0
PDE1A	5136	broad.mit.edu	37	2	183099217	183099217	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr2:183099217C>T	uc002uos.3	-	4	491	c.407G>A	c.(406-408)cGa>cAa	p.R136Q	PDE1A_uc010zfp.1_Missense_Mutation_p.R32Q|PDE1A_uc002uoq.1_Missense_Mutation_p.R136Q|PDE1A_uc010zfq.1_Missense_Mutation_p.R136Q|PDE1A_uc002uor.3_Missense_Mutation_p.R120Q|PDE1A_uc002uou.3_Missense_Mutation_p.R102Q	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	136					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			ATATGTTTTTCGGTACATTCT	0.269000														51			28		0	0	0.00178596	0	0
SORCS3	22986	broad.mit.edu	37	10	106924130	106924131	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr10:106924130_106924131GG>AA	uc001kyi.1	+	11	2029_2030	c.1802_1803GG>AA	c.(1801-1803)tgg>tAA	p.W601*		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	601						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGCAACACATGGAGACAGGTAA	0.446000														7			5		0	0	6.4e-05	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37547165	37547165	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr20:37547165G>A	uc002xje.3	+	10	1749	c.1560G>A	c.(1558-1560)ttG>ttA	p.L520L	PPP1R16B_uc010ggc.3_Silent_p.L478L	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	520					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AGGCCCCCTTGATCGGAGGCA	0.597000														41			13		0	0	0.00244969	0	0
CPEB3	22849	broad.mit.edu	37	10	93851667	93851667	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr10:93851667T>C	uc001khw.2	-	7	1811	c.1607A>G	c.(1606-1608)gAc>gGc	p.D536G	CPEB3_uc001khu.2_Missense_Mutation_p.D545G|CPEB3_uc001khv.2_Missense_Mutation_p.D522G|CPEB3_uc010qnn.2_Missense_Mutation_p.D522G	NM_014912	NP_055727	Q8NE35	CPEB3_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 3 (CPEB3), transcript variant 1, mRNA.	536							RNA binding|nucleotide binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				CATTACAAAGTCACTGTCACT	0.428000														27			15		0	0	0.00074312	0	0
ESYT3	83850	broad.mit.edu	37	3	138170908	138170908	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr3:138170908G>A	uc003esk.3	+	1	572	c.346G>A	c.(346-348)Gag>Aag	p.E116K	ESYT3_uc010hug.2_Non-coding_Transcript	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA.	116						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CCCGGACGTGGAGCGGGTCGA	0.672000														210			44		0	0	0.000781405	0	0
XKR4	114786	broad.mit.edu	37	8	56436558	56436558	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr8:56436558G>A	uc003xsf.3	+	2	1757	c.1725G>A	c.(1723-1725)gtG>gtA	p.V575V		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	575						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TCTTTCAAGTGAGGCCCACTG	0.532000														42			28		0	0	0.00106085	0	0
AV2S1A1	0	broad.mit.edu	37	14	22356678	22356678	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr14:22356678G>A	uc021rph.1	+	1	441	c.339G>A	c.(337-339)gtG>gtA	p.V113V	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|AV2S1A1_uc021rpi.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 12, partial cds, clone: SEB 117-2.																		TCTGTGCCGTGAACACACAGT	0.532000														108			48		0	0	0.000781405	0	0
SYCP1	6847	broad.mit.edu	37	1	115401176	115401177	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr1:115401176_115401177GG>AA	uc001efr.3	+	5	509_510	c.300_301GG>AA	c.(298-303)gaggga>gaAAga	p.G101R	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.G101R|SYCP1_uc009wgw.3_Missense_Mutation_p.G101R	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	101					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAATTCAGAGGGATTGAGCAG	0.297000														108			8		0	0	6.4e-05	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174295	207174295	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr2:207174295G>A	uc002vbp.2	+	4	5293	c.5043G>A	c.(5041-5043)caG>caA	p.Q1681Q		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1681							nucleic acid binding|zinc ion binding	p.L1680L(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ACCGACTGCAGAAAGCTCACA	0.413000														31			7		0	0	0.000157383	0	0
AF047486	0	broad.mit.edu	37	17	41020841	41020841	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr17:41020841G>A	uc002ibx.3	+	1	469	c.256G>A	c.(256-258)Ggc>Agc	p.G86S	AOC4_uc002ibw.1_3'UTR					Homo sapiens amine oxidase pseudogene mRNA, splice variant HLAO2.																		GCACACCCTGGGCACGGTCCA	0.567000														6			7		0	0	0.000157383	0	0
MFAP1	4236	broad.mit.edu	37	15	44107265	44107265	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr15:44107265G>A	uc001zth.1	-	2	491	c.307C>T	c.(307-309)Cga>Tga	p.R103*		NM_005926	NP_005917	P55081	MFAP1_HUMAN	Homo sapiens microfibrillar-associated protein 1 (MFAP1), mRNA.	103						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		TTTCGATGTCGAGCCAATCTG	0.423000														39			17		0	0	0.00074312	0	0
ECE2	9718	broad.mit.edu	37	3	184009945	184009945	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr3:184009945C>T	uc003fni.4	+	18	2609	c.2571C>T	c.(2569-2571)tcC>tcT	p.S857S	ECE2_uc003fnl.4_Silent_p.S785S|ECE2_uc003fnm.4_Silent_p.S739S|ECE2_uc003fnk.4_Silent_p.S710S	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	857	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCACTCTCTCCAACTCCCGTG	0.662000														60			12		0	0	0.00136819	0	0
SNTG2	54221	broad.mit.edu	37	2	1161240	1161240	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr2:1161240C>T	uc002qwq.3	+	6	547	c.418C>T	c.(418-420)Ctg>Ttg	p.L140L	SNTG2_uc010ewi.3_Intron	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	140	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		ACAGGTGCATCTGCTGAGAAA	0.433000														83			37		0	0	0.00195071	0	0
FLG	2312	broad.mit.edu	37	1	152279024	152279024	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr1:152279024G>A	uc001ezu.1	-	2	8374	c.8338C>T	c.(8338-8340)Caa>Taa	p.Q2780*		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2780	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACCGTCTTGGGATGCTGAG	0.597000									Ichthyosis					518			94		0	0	0.000781405	0	0
COL6A3	1293	broad.mit.edu	37	2	238303547	238303547	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr2:238303547G>C	uc002vwl.2	-	2	677	c.392C>G	c.(391-393)aCc>aGc	p.T131S	COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Intron|COL6A3_uc002vwr.3_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.T131S	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	131	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGCAGCCTTGGTGAGGTGGCT	0.483000														66			7		0	0	0.00198382	0	0
KCNB2	9312	broad.mit.edu	37	8	73849751	73849751	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr8:73849751G>A	uc003xzb.3	+	2	2749	c.2161G>A	c.(2161-2163)Gaa>Aaa	p.E721K		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	721					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GAACTTTAAGGAAAATAGAGG	0.527000														60			6		0	0	0.00198382	0	0
C16orf45	89927	broad.mit.edu	37	16	15609187	15609187	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr16:15609187G>A	uc002ddo.3	+	1	318	c.132G>A	c.(130-132)gcG>gcA	p.A44A	C16orf45_uc002ddp.3_Silent_p.A27A	NM_033201	NP_149978	Q96MC5	CP045_HUMAN	Homo sapiens chromosome 16 open reading frame 45 (C16orf45), transcript variant 1, mRNA.	44										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						TCTCCATGGCGGAGACAACCA	0.547000														35			18		0	0	0.00188189	0	0
RP1	6101	broad.mit.edu	37	8	55541396	55541396	+	Missense_Mutation	SNP	C	T	T	rs151328121	byFrequency	TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr8:55541396C>T	uc003xsd.1	+	3	5102	c.4954C>T	c.(4954-4956)Cgc>Tgc	p.R1652C	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1652			R -> L (in RP1; uncertain pathogenicity).		axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGGGTCTACCCGCAAATCTCA	0.373000														64			37		0	0	0.000814825	0	0
AOC3	8639	broad.mit.edu	37	17	41004022	41004022	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr17:41004022G>A	uc002ibv.3	+	0	822	c.662G>A	c.(661-663)gGg>gAg	p.G221E		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	221					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CTGCAATCAGGGGACCGGGCC	0.612000														36			6		0	0	0.00198382	0	0
TLR9	54106	broad.mit.edu	37	3	52255864	52255864	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr3:52255864A>G	uc003ddb.3	-	4	2969	c.2759T>C	c.(2758-2760)cTg>cCg	p.L920P	TLR9_uc003dda.2_Missense_Mutation_p.L823P	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	Homo sapiens toll-like receptor 9 (TLR9), mRNA.	823	TIR.				I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CACAGCCAGCAGCGAGAGGGC	0.657000														13			9		0	0	0.000442599	0	0
TNS4	84951	broad.mit.edu	37	17	38640807	38640807	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr17:38640807G>A	uc010cxb.3	-	5	1594	c.1430C>T	c.(1429-1431)tCt>tTt	p.S477F		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	477	SH2.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			TCGGTATGAAGAGCTGTCCCT	0.582000														31			41		0	0	0.00222228	0	0
GRPEL1	80273	broad.mit.edu	37	4	7062907	7062907	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr4:7062907C>T	uc003gjy.1	-	3	377	c.336G>A	c.(334-336)ttG>ttA	p.L112L	GRPEL1_uc003gjz.1_3'UTR	NM_025196	NP_079472	Q9HAV7	GRPE1_HUMAN	Homo sapiens GrpE-like 1, mitochondrial (E. coli) (GRPEL1), nuclear gene encoding mitochondrial protein, mRNA.	112					protein folding|protein import into mitochondrial matrix	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CTGCCACCTCCAACAAGTCCT	0.473000														113			47		0	0	0.000781405	0	0
ABCC10	89845	broad.mit.edu	37	6	43400805	43400805	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr6:43400805C>T	uc003ouy.1	+	2	1302	c.1087C>T	c.(1087-1089)Ctg>Ttg	p.L363L	ABCC10_uc003ouz.1_Silent_p.L320L|ABCC10_uc010jyo.1_5'Flank	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	363	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GCTGAACATCCTGTACTGCAA	0.577000														61			35		0	0	0.00058488	0	0
NCR2	9436	broad.mit.edu	37	6	41304028	41304028	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr6:41304028G>A	uc003oqh.2	+	1	343	c.256G>A	c.(256-258)Gac>Aac	p.D86N	NCR2_uc003oqj.2_Missense_Mutation_p.D86N|NCR2_uc003oqi.2_Missense_Mutation_p.D86N	NM_004828	NP_004819	O95944	NCTR2_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 2 (NCR2), transcript variant 1, mRNA.	86	Ig-like.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					AATCTGGGACGACCCTGATGC	0.522000														40			22		0	0	0.00229938	0	0
FUT5	2527	broad.mit.edu	37	19	5867530	5867530	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr19:5867530C>T	uc002mdo.4	-	1	378	c.207G>A	c.(205-207)gcG>gcA	p.A69A	FUT5_uc010duo.3_Silent_p.A69A|FUT5_uc021uno.1_Silent_p.A69A	NM_002034	NP_002025	Q11128	FUT5_HUMAN	Homo sapiens fucosyltransferase 5 (alpha (1,3) fucosyltransferase) (FUT5), mRNA.	69					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						GGGCAGGGGTCGCCATGCTGT	0.667000														43			10		0	0	0.00185496	0	0
TNRC18	84629	broad.mit.edu	37	7	5427351	5427351	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr7:5427351G>A	uc003soi.4	-	4	2453	c.2104C>T	c.(2104-2106)Cct>Tct	p.P702S	TNRC18_uc010ksx.1_Missense_Mutation_p.P628S	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	702							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		ACCAGCCCAGGCCCCAGCCGG	0.662000														82			17		0	0	0.00047179	0	0
GYS2	2998	broad.mit.edu	37	12	21690091	21690091	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr12:21690091G>A	uc001rfb.3	-	15	2164	c.1909C>T	c.(1909-1911)Ccc>Tcc	p.P637S		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	637					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GAAGGCCTGGGATATTTAAAT	0.433000														13			5		0	0	0.00198382	0	0
OR8J3	81168	broad.mit.edu	37	11	55904804	55904804	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr11:55904804G>A	uc010riz.2	-	0	391	c.391C>T	c.(391-393)Ctc>Ttc	p.L131F		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ACCATGTAGAGCAGAGGGTTA	0.502000														55			23		0	0	0.00278032	0	0
NXF3	56000	broad.mit.edu	37	X	102338596	102338596	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chrX:102338596C>T	uc004eju.3	-	3	447	c.376G>A	c.(376-378)Gag>Aag	p.E126K	NXF3_uc010noi.1_5'UTR|NXF3_uc011mrw.1_Missense_Mutation_p.E126K|NXF3_uc011mrx.1_Missense_Mutation_p.E37K	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	126	RRM.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						AGCCACTTCTCATTGTATTTT	0.418000														73			43		0	0	0.0025221	0	0
SYNE2	23224	broad.mit.edu	37	14	64691256	64691257	+	Silent	DNP	CC	AA	AA			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr14:64691256_64691257CC>AA	uc001xgl.3	+	113	20690_20691	c.20460_20461CC>AA	c.(20458-20463)ccccga>ccAAga	p.6820_6821PR>PR	SYNE2_uc001xgm.3_Silent_p.6797_6798PR>PR|SYNE2_uc010apy.3_Silent_p.3182_3183PR>PR|SYNE2_uc001xgn.3_Silent_p.1759_1760PR>PR|SYNE2_uc021rui.1_Silent_p.1758_1759PR>PR|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Silent_p.767_768PR>PR|SYNE2_uc001xgq.3_Silent_p.1176_1177PR>PR|SYNE2_uc001xgr.3_Silent_p.580_581PR>PR|SYNE2_uc010tsi.2_Silent_p.454_455PR>PR|SYNE2_uc001xgs.3_Silent_p.468_469PR>PR|SYNE2_uc001xgt.3_Silent_p.342_343PR>PR	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	6797					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding	p.P6820S(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGCCAGCTCCCCGAGCAAAGGT	0.535000														111			9		0	0	6.4e-05	0	0
ADAM18	8749	broad.mit.edu	37	8	39442147	39442147	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr8:39442147C>T	uc003xni.3	+	0	61	c.6C>T	c.(4-6)ttC>ttT	p.F2F	ADAM18_uc003xnh.3_Silent_p.F2F|ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Silent_p.F2F	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	2					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GAGCCATGTTCCTTCTCCTCG	0.627000														38			26		0	0	0.000692331	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858416	9858416	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr16:9858416C>T	uc010uym.2	-	13	3295	c.2985G>A	c.(2983-2985)acG>acA	p.T995T	GRIN2A_uc002czo.4_Silent_p.T995T|GRIN2A_uc010uyn.2_Silent_p.T838T|GRIN2A_uc002czr.4_Silent_p.T995T	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	995					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.T995M(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCACCTCCACCGTGTTAGGGT	0.498000														26			10		0	0	0.000442599	0	0
ARHGAP6	395	broad.mit.edu	37	X	11682527	11682527	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chrX:11682527G>A	uc004cup.1	-	0	1295	c.422C>T	c.(421-423)tCt>tTt	p.S141F	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Missense_Mutation_p.S141F	NM_013427	NP_038286	O43182	RHG06_HUMAN	Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.	141					Rho protein signal transduction|actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly	actin filament|cytosol	Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity|phospholipase activator activity|phospholipase binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGCCAGGACAGAAGGCAGGTC	0.627000														17			5		0	0	0.00198382	0	0
SART1	9092	broad.mit.edu	37	11	65734802	65734802	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr11:65734802G>A	uc001ogl.3	+	9	1353	c.1261G>A	c.(1261-1263)Gat>Aat	p.D421N	SART1_uc010rot.1_3'UTR	NM_005146	NP_005137	O43290	SNUT1_HUMAN	Homo sapiens squamous cell carcinoma antigen recognized by T cells (SART1), mRNA.	421					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AGTGCGGGCAGATGACTTGCT	0.587000														121			29		0	0	0.00178596	0	0
GAS6	2621	broad.mit.edu	37	13	114524980	114524980	+	Silent	SNP	G	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr13:114524980G>T	uc001vug.3	-	5	1988	c.936C>A	c.(934-936)ctC>ctA	p.L312L	GAS6_uc001vud.3_Silent_p.L611L|GAS6_uc001vuf.3_Silent_p.L338L	NM_001143946	NP_001137418	Q14393	GAS6_HUMAN	Homo sapiens growth arrest-specific 6 (GAS6), transcript variant 3, mRNA.	654					cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	Golgi lumen|endoplasmic reticulum lumen|extracellular space|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GGTGCCTCTCGAGCACGGCCA	0.716000														4			4		0.00024832	0.00143356	0.00024832	1	0
PTGFR	5737	broad.mit.edu	37	1	78958726	78958726	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr1:78958726C>T	uc001din.3	+	1	564	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	PTGFR_uc001dim.3_Missense_Mutation_p.R100C	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	100					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	p.R100H(1)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	AGAATGGATCCGCTTTGACCA	0.443000														122			54		0	0	0.000781405	0	0
NLRP11	204801	broad.mit.edu	37	19	56321664	56321664	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr19:56321664G>A	uc010ygf.2	-	4	1023	c.312C>T	c.(310-312)ttC>ttT	p.F104F	NLRP11_uc002qlz.3_Silent_p.F5F|NLRP11_uc002qmb.3_Silent_p.F5F|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	104							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ATTGCAGCATGAATTTTCTCC	0.368000														20			6		0	0	0.00198382	0	0
TTLL6	284076	broad.mit.edu	37	17	46846367	46846367	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr17:46846367C>T	uc021tzm.1	-	14	2695	c.2660G>A	c.(2659-2661)gGa>gAa	p.G887E	TTLL6_uc002iob.3_Missense_Mutation_p.G580E|TTLL6_uc010dbi.3_Intron|TTLL6_uc002ioc.3_Missense_Mutation_p.G640E|TTLL6_uc002iod.3_Intron	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 6 (TTLL6), transcript variant 1, mRNA.	839						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CCTCTCACATCCTTTTTGGCC	0.498000														52			36		0	0	0.00148497	0	0
ART4	420	broad.mit.edu	37	12	14993586	14993586	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr12:14993586C>T	uc001rcl.1	-	1	1012	c.646G>A	c.(646-648)Gag>Aag	p.E216K	ART4_uc009zid.1_Intron|ART4_uc009zie.1_Intron|ART4_uc001rcm.1_Missense_Mutation_p.E216K	NM_021071	NP_066549	Q93070	NAR4_HUMAN	Homo sapiens ADP-ribosyltransferase 4 (Dombrock blood group) (ART4), mRNA.	216					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						TCCTGTGCCTCTTCTTTCAGG	0.493000														18			4		0	0	0.00024832	0	0
FBXW9	84261	broad.mit.edu	37	19	12800923	12800924	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr19:12800923_12800924GG>AA	uc010dyx.2	-	5	944_945	c.944_945CC>TT	c.(943-945)gcc>gTT	p.A315V	FBXW9_uc010xmp.2_Splice_Site|AX747991_uc002mul.1_3'UTR|FBXW9_uc002mum.1_Splice_Site_p.A295_splice	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	Homo sapiens F-box and WD repeat domain containing 9 (FBXW9), mRNA.	325							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						GGGCTGGGCCGGCTTCATGGGT	0.639000														55			25		0	0	6.4e-05	0	0
ARAF	369	broad.mit.edu	37	X	47426121	47426121	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chrX:47426121C>T	uc011mlp.2	+	6	835	c.641C>T	c.(640-642)tCc>tTc	p.S214F	ARAF_uc011mln.2_Intron|ARAF_uc011mlo.2_Missense_Mutation_p.S80F|ARAF_uc004dic.1_5'UTR	NM_001654	NP_001645	P10398	ARAF_HUMAN	Homo sapiens v-raf murine sarcoma 3611 viral oncogene homolog (ARAF), transcript variant 1, mRNA.	214					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.S214F(2)		biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CGCTCCACGTCCACTCCCAAC	0.662000														20			5		0	0	0.000602214	0	0
AMY2B	280	broad.mit.edu	37	1	104114369	104114369	+	Missense_Mutation	SNP	C	T	T	rs141409903		TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr1:104114369C>T	uc010ouo.2	+	12	1849	c.145C>T	c.(145-147)Ccc>Tcc	p.P49S	AMY2B_uc001duq.3_Missense_Mutation_p.P49S|AMY2B_uc001dur.3_Missense_Mutation_p.P49S	NM_020978	NP_066188	P19961	AMY2B_HUMAN	Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.	49					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		ATATTTAGCTCCCAAGGGATT	0.403000														107			14		0	0	0.000720815	0	0
ULK4	54986	broad.mit.edu	37	3	41860970	41860970	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr3:41860970C>G	uc003ckv.4	-	18	1994	c.1793G>C	c.(1792-1794)tGc>tCc	p.C598S	ULK4_uc003ckw.2_Missense_Mutation_p.C598S	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA.	598							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AACAGCCCAGCACTCTCTAGG	0.433000														17			10		0	0	0.00185496	0	0
AK7	122481	broad.mit.edu	37	14	96953373	96953373	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr14:96953373G>A	uc001yfn.2	+	16	2157	c.2113G>A	c.(2113-2115)Gaa>Aaa	p.E705K		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	705	DPY-30.				cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CGTCCGACCCGAAGACCCTGT	0.413000														90			38		0	0	0.000781405	0	0
ACTL6A	86	broad.mit.edu	37	3	179287645	179287645	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr3:179287645C>T	uc003fjw.3	+	1	232	c.59C>T	c.(58-60)tCc>tTc	p.S20F	ACTL6A_uc003fjx.3_5'UTR|ACTL6A_uc003fjy.3_5'UTR	NM_004301	NP_829888	O96019	ACL6A_HUMAN	Homo sapiens actin-like 6A (ACTL6A), transcript variant 1, mRNA.	20					DNA recombination|DNA repair|chromatin remodeling|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|NuA4 histone acetyltransferase complex|SWI/SNF complex|npBAF complex|plasma membrane	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			GACATTGGATCCTATACTGTG	0.353000														66			47		0	0	0.000781405	0	0
SPATA8	145946	broad.mit.edu	37	15	97328286	97328286	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr15:97328286C>T	uc002bue.3	+	2	464	c.257C>T	c.(256-258)tCc>tTc	p.S86F	DQ576557_uc010urp.2_5'Flank|DQ593900_uc021sxe.1_5'Flank|DQ594674_uc021sxf.1_5'Flank|DQ599954_uc002bud.2_5'Flank	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	Homo sapiens spermatogenesis associated 8 (SPATA8), mRNA.	86								p.S86T(1)		large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			CCATCTGCTTCCCCACTGATT	0.453000														99			36		0	0	0.000814825	0	0
DMBT1	1755	broad.mit.edu	37	10	124350197	124350197	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr10:124350197G>A	uc001lgk.1	+	17	2230	c.2124G>A	c.(2122-2124)tcG>tcA	p.S708S	DMBT1_uc001lgl.1_Silent_p.S698S|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Silent_p.S708S|DMBT1_uc021qag.1_Silent_p.S698S|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Silent_p.S708S|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	708					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AGTCCCGGTCGACGCCCAGGC	0.507000														254			142		0	0	0.000781405	0	0
RBM46	166863	broad.mit.edu	37	4	155720135	155720135	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr4:155720135C>T	uc003ioo.3	+	3	994	c.821C>T	c.(820-822)gCt>gTt	p.A274V	RBM46_uc011cim.1_Missense_Mutation_p.A274V|RBM46_uc003iop.1_Missense_Mutation_p.A274V	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	274	RRM 3.						RNA binding|nucleotide binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				AGAGATTATGCTTTTGTTCAC	0.358000														21			12		0	0	0.00136819	0	0
COL22A1	169044	broad.mit.edu	37	8	139833559	139833559	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr8:139833559C>T	uc003yvd.3	-	6	1512	c.1065G>A	c.(1063-1065)cgG>cgA	p.R355R		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	355	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGTCATTGACCCGAGAACCTC	0.577000										HNSCC(7;0.00092)				30			10		0	0	0.000673444	0	0
NPHS2	7827	broad.mit.edu	37	1	179520438	179520438	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr1:179520438G>A	uc001gmq.4	-	7	1107	c.1022C>T	c.(1021-1023)cCt>cTt	p.P341L	AXDND1_uc001gmo.3_Intron|AXDND1_uc009wxg.3_Intron|AXDND1_uc021pfj.1_Intron|AXDND1_uc009wxh.3_Intron|NPHS2_uc009wxi.3_Missense_Mutation_p.P273L|AXDND1_uc001gmr.3_Non-coding_Transcript	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	Homo sapiens nephrosis 2, idiopathic, steroid-resistant (podocin) (NPHS2), mRNA.	341					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						AAATGGCAAAGGTAAAACCAC	0.522000														26			11		0	0	0.00185496	0	0
SPDYE6	729597	broad.mit.edu	37	7	101989098	101989098	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr7:101989098C>T	uc011kkp.2	-	5	1196	c.775G>A	c.(775-777)Gag>Aag	p.E259K	DQ601342_uc022aje.1_5'Flank	NM_001146210	NP_001139682	P0CI01	SPDE6_HUMAN	Homo sapiens speedy homolog E6 (Xenopus laevis) (SPDYE6), mRNA.	259																	TCGTCCTCCTCCATGTCATTG	0.557000														255			20		0	0	0.000953801	0	0
NCAPH	23397	broad.mit.edu	37	2	97007508	97007508	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr2:97007508C>T	uc002svz.1	+	1	232	c.148C>T	c.(148-150)Cca>Tca	p.P50S	NCAPH_uc010fhu.1_Missense_Mutation_p.P26S|NCAPH_uc010fhv.1_Missense_Mutation_p.P39S|NCAPH_uc010yum.1_Missense_Mutation_p.P26S|NCAPH_uc010yun.1_Intron	NM_015341	NP_056156	Q15003	CND2_HUMAN	Homo sapiens non-SMC condensin I complex, subunit H (NCAPH), mRNA.	50					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				TCCTGGCACCCCAGTCCTCGA	0.597000														66			28		0	0	0.001512	0	0
LOC440563	440563	broad.mit.edu	37	1	13183318	13183318	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr1:13183318C>T	uc010obg.2	-	1	798	c.555G>A	c.(553-555)caG>caA	p.Q185Q		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	185						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										GGGTCAACTCCTGCTTAATGG	0.443000														252			29		0	0	0.00178596	0	0
TNFRSF12A	51330	broad.mit.edu	37	16	3070469	3070469	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr16:3070469C>T	uc002csv.4	+	0	157	c.71C>T	c.(70-72)tCc>tTc	p.S24F	CLDN6_uc002csu.4_5'Flank|TNFRSF12A_uc002csw.4_Missense_Mutation_p.S24F	NM_016639	NP_057723	Q9NP84	TNR12_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 12A (TNFRSF12A), mRNA.	24					angiogenesis|apoptosis	integral to membrane	receptor activity			lung(1)|skin(1)	2						TTGCTGCGCTCCGTGGCCGGG	0.746000														17			4		0	0	0.00024832	0	0
OGDHL	55753	broad.mit.edu	37	10	50944148	50944148	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr10:50944148C>T	uc009xog.3	-	20	2945	c.2911G>A	c.(2911-2913)Gag>Aag	p.E971K	OGDHL_uc001jie.3_Missense_Mutation_p.E944K|OGDHL_uc010qgt.2_Missense_Mutation_p.E887K|OGDHL_uc010qgu.2_Missense_Mutation_p.E735K	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	944					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TTGTGCTCCTCCTGACACCAG	0.577000														23			12		0	0	0.000978159	0	0
DUSP18	150290	broad.mit.edu	37	22	31059613	31059613	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr22:31059613G>A	uc003aiu.3	-	1	879	c.378C>T	c.(376-378)tcC>tcT	p.S126S	SLC35E4_uc003ait.3_Intron|DUSP18_uc010gwa.2_Non-coding_Transcript|DUSP18_uc003aiw.1_Silent_p.S126S|DUSP18_uc021wnv.1_Silent_p.S126S	NM_152511	NP_689724	Q8NEJ0	DUS18_HUMAN	Homo sapiens dual specificity phosphatase 18 (DUSP18), mRNA.	126	Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						CGTCCAGCAGGGACATGGCGT	0.587000														65			5		0	0	0.000602214	0	0
TECRL	253017	broad.mit.edu	37	4	65180469	65180469	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr4:65180469C>T	uc003hcv.3	-	4	557	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	TECRL_uc003hcw.3_Missense_Mutation_p.E150K	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA.	150					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CCTGTGTATTCAGCCAAAAAC	0.348000														36			13		0	0	0.00136819	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332264	100332264	+	RNA	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr15:100332264C>T	uc021sxl.1	-	1		c.889G>A			DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.																		GACTAGGGGCCAGTCTGTGAG	0.657000														50			11		0	0	0.000978159	0	0
TBX2	6909	broad.mit.edu	37	17	59482937	59482937	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr17:59482937G>A	uc010wox.2	+	5	1707	c.1426G>A	c.(1426-1428)Ggg>Agg	p.G476R	TBX2_uc002ize.3_3'UTR|TBX2_uc002izg.3_Missense_Mutation_p.G322R	NM_005994	NP_005985	Q13207	TBX2_HUMAN	Homo sapiens T-box 2 (TBX2), mRNA.	476	Gly-rich.				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						CCACTTGCACGGGCAGCAGTT	0.701000														25			6		0	0	0.000157383	0	0
CHL1	10752	broad.mit.edu	37	3	407753	407753	+	Missense_Mutation	SNP	G	A	A	rs138000940	byFrequency	TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr3:407753G>A	uc003bot.3	+	14	2348	c.1706G>A	c.(1705-1707)aGt>aAt	p.S569N	CHL1_uc003bou.3_Missense_Mutation_p.S553N|CHL1_uc003bow.2_Missense_Mutation_p.S553N|CHL1_uc011asi.2_Missense_Mutation_p.S569N|BC065754_uc003box.1_Intron	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	553	Ig-like C2-type 6.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTGTCCTGGAGTAAAGATGGA	0.368000														18			7		0	0	0.000274275	0	0
DNAH8	1769	broad.mit.edu	37	6	38781865	38781865	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr6:38781865C>T	uc021yzh.1	+	24	3402	c.3293C>T	c.(3292-3294)tCc>tTc	p.S1098F	DNAH8_uc003ooe.2_Missense_Mutation_p.S881F	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GATATTATTTCCTTTATAAAA	0.313000														54			9		0	0	0.000978159	0	0
NR4A2	4929	broad.mit.edu	37	2	157182748	157182748	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr2:157182748G>A	uc002tyz.4	-	6	1876	c.1454C>T	c.(1453-1455)tCc>tTc	p.S485F	NR4A2_uc021vri.1_Missense_Mutation_p.S460F|NR4A2_uc002tyx.4_Missense_Mutation_p.S422F|NR4A2_uc010zcf.2_Missense_Mutation_p.S485F|NR4A2_uc010zcg.1_Intron	NM_006186	NP_006177	P43354	NR4A2_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 2 (NR4A2), mRNA.	485					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						TTCAACAATGGAATCAATCCA	0.488000														56			22		0	0	0.000878237	0	0
HTR7	3363	broad.mit.edu	37	10	92508946	92508946	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr10:92508946G>A	uc001kha.3	-	1	1188	c.945C>T	c.(943-945)aaC>aaT	p.N315N	HTR7_uc001kgz.3_Silent_p.N315N|HTR7_uc001khb.3_Silent_p.N315N	NM_019859	NP_062873	P34969	5HT7R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	315					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	AGATGGAGATGTTTTTCCTTT	0.527000														15			5		0	0	0.000602214	0	0
REXO1	57455	broad.mit.edu	37	19	1827447	1827447	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr19:1827447C>T	uc002lua.4	-	1	1436	c.1341G>A	c.(1339-1341)ggG>ggA	p.G447G	REXO1_uc010dsr.1_Silent_p.G401G	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	447						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTCCCTTTCCCTGAGGTGG	0.741000														15			5		0	0	0.000602214	0	0
USP29	57663	broad.mit.edu	37	19	57640991	57640991	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr19:57640991A>C	uc002qny.3	+	3	1304	c.948A>C	c.(946-948)caA>caC	p.Q316H	USP29_uc021vci.1_Missense_Mutation_p.Q316H	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	316					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TACTCACTCAAGGTGTCCCAT	0.413000														47			17		0	0	0.00121646	0	0
DNAH10	196385	broad.mit.edu	37	12	124330613	124330613	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr12:124330613C>T	uc001uft.4	+	30	5397	c.5372C>T	c.(5371-5373)aCc>aTc	p.T1791I		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1791	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGCACGGGAACCTTTGGCTAC	0.592000														63			28		0	0	0.00178596	0	0
EXTL1	2134	broad.mit.edu	37	1	26360198	26360198	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr1:26360198C>T	uc001blf.3	+	8	2397	c.1530C>T	c.(1528-1530)gcC>gcT	p.A510A		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	Homo sapiens exostoses (multiple)-like 1 (EXTL1), mRNA.	510					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		TGGACTTTGCCTTTCTGGTGT	0.597000														144			70		0	0	0.000781405	0	0
EPAS1	2034	broad.mit.edu	37	2	46574202	46574202	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr2:46574202G>A	uc002ruv.3	+	2	727	c.217_splice	c.e2+1	p.V73_splice		NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	73					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CCTCTCCTCAGGTAAGGCCAG	0.592000														48			11		0	0	0.00136819	0	0
XRRA1	143570	broad.mit.edu	37	11	74554479	74554479	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr11:74554479C>T	uc009yub.3	-	18	2477	c.2145G>A	c.(2143-2145)tgG>tgA	p.W715*	XRRA1_uc001ovm.2_Non-coding_Transcript|XRRA1_uc001ovn.3_Nonsense_Mutation_p.W338*|XRRA1_uc001ovo.3_Nonsense_Mutation_p.W323*|XRRA1_uc001ovp.4_Nonsense_Mutation_p.W440*|XRRA1_uc001ovq.4_Missense_Mutation_p.G593E|XRRA1_uc001ovr.2_3'UTR|XRRA1_uc001ovs.1_3'UTR	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	Homo sapiens X-ray radiation resistance associated 1 (XRRA1), mRNA.	715					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						GCCGTTCTGTCCACTGGTGCA	0.582000														6			3		0	0	0.00024832	0	0
SGSM1	129049	broad.mit.edu	37	22	25251323	25251323	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr22:25251323G>A	uc003abg.2	+	6	752	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	SGSM1_uc010guu.1_Missense_Mutation_p.E199K|SGSM1_uc003abh.2_Missense_Mutation_p.E199K|SGSM1_uc003abj.2_Missense_Mutation_p.E199K|SGSM1_uc003abi.1_Missense_Mutation_p.E174K|SGSM1_uc003abf.2_Missense_Mutation_p.E199K	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	199						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CTCGGCTGACGAACTTGTCCA	0.627000														12			19		0	0	0.00121646	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46917568	46917568	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr13:46917568G>A	uc010acl.3	-	14	2546	c.1941C>T	c.(1939-1941)atC>atT	p.I647I	KIAA0226L_uc010tfy.2_Silent_p.I170I|KIAA0226L_uc001vbf.4_Silent_p.I580I|KIAA0226L_uc010tfz.2_Silent_p.I490I|KIAA0226L_uc010acn.3_Silent_p.I432I|KIAA0226L_uc010acm.3_Silent_p.I512I|KIAA0226L_uc001vbe.4_Missense_Mutation_p.S596L|KIAA0226L_uc001vbh.4_Silent_p.I647I|KIAA0226L_uc001vbi.4_Silent_p.I490I	NM_025113	NP_079389	Q9H714	CM018_HUMAN	Homo sapiens KIAA0226-like (KIAA0226L), mRNA.	647										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						TCCTCGCTGTGATCCTCGCAC	0.527000														27			6		0	0	0.00198382	0	0
KCNK10	54207	broad.mit.edu	37	14	88654351	88654351	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr14:88654351C>T	uc001xwm.3	-	5	1093	c.971G>A	c.(970-972)gGa>gAa	p.G324E	KCNK10_uc001xwn.3_Missense_Mutation_p.G324E|KCNK10_uc001xwo.3_Missense_Mutation_p.G319E	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	319					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.R323Q(1)|p.R323P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TAGCCAATCTCCGATCATACT	0.478000														110			75		0	0	0.000781405	0	0
KCNH5	27133	broad.mit.edu	37	14	63453898	63453898	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr14:63453898C>T	uc001xfx.3	-	4	492	c.441G>A	c.(439-441)acG>acA	p.T147T	KCNH5_uc001xfy.3_Silent_p.T147T|KCNH5_uc001xfz.1_Silent_p.T89T|KCNH5_uc001xga.3_Silent_p.T89T	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	147					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.T147M(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GGGCAAATTTCGTCCAACCTT	0.388000														26			8		0	0	0.000157383	0	0
FAM179A	165186	broad.mit.edu	37	2	29259496	29259496	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr2:29259496C>T	uc010ezl.3	+	17	2859	c.2508C>T	c.(2506-2508)ctC>ctT	p.L836L	FAM179A_uc010ymm.2_Silent_p.L781L|FAM179A_uc002rmr.4_Silent_p.L363L|FAM179A_uc002rms.1_Silent_p.L134L	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	836							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGATCCCCCTCCTCAGAGAGA	0.517000														49			17		0	0	0.000566183	0	0
SLC30A8	169026	broad.mit.edu	37	8	118184820	118184820	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr8:118184820C>T	uc003yoh.3	+	7	1240	c.1010C>T	c.(1009-1011)gCc>gTc	p.A337V	SLC30A8_uc010mcz.3_Missense_Mutation_p.A288V|SLC30A8_uc003yog.3_Missense_Mutation_p.A288V|SLC30A8_uc011lia.2_Missense_Mutation_p.A288V|SLC30A8_uc022bab.1_Missense_Mutation_p.A288V	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	337					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			ATTGCTAAAGCCCTTAGCAAA	0.512000														26			7		0	0	0.000442599	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42853782	42853782	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr12:42853782T>G	uc010skv.2	-	7	2612	c.2325A>C	c.(2323-2325)gaA>gaC	p.E775D	PRICKLE1_uc001rnl.3_Missense_Mutation_p.E775D|PRICKLE1_uc010skw.2_Missense_Mutation_p.E775D|PRICKLE1_uc001rnm.3_Missense_Mutation_p.E775D|PRICKLE1_uc001rnk.1_5'Flank	NM_001144881	NP_694571	Q96MT3	PRIC1_HUMAN	Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 2, mRNA.	775					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GAAAATATCCTTCTTCTTCCG	0.517000														36			26		0	0	0.000586117	0	0
ACTR2	10097	broad.mit.edu	37	2	65492226	65492226	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr2:65492226C>T	uc002sdp.3	+	8	1161	c.946C>T	c.(946-948)Cct>Tct	p.P316S	ACTR2_uc010yqf.1_Missense_Mutation_p.P256S|ACTR2_uc002sdq.3_Missense_Mutation_p.P311S|ACTR2_uc010yqg.2_Missense_Mutation_p.P259S	NM_001005386	NP_001005386	P61160	ARP2_HUMAN	Homo sapiens ARP2 actin-related protein 2 homolog (yeast) (ACTR2), transcript variant 1, mRNA.	311					cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	ATP binding|actin binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						TACTATGTATCCTGGCCTGCC	0.383000														110			50		0	0	0.000781405	0	0
SLC17A3	10786	broad.mit.edu	37	6	25862090	25862090	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr6:25862090G>A	uc003nfk.4	-	3	581	c.471C>T	c.(469-471)atC>atT	p.I157I	SLC17A3_uc003nfi.4_Intron|SLC17A3_uc011djz.1_Silent_p.I157I|SLC17A3_uc011dka.1_Intron	NM_001098486	NP_001091956	O00476	NPT4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 3 (SLC17A3), transcript variant 1, mRNA.	308					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						TGGCCAGAGGGATGCATAGAG	0.443000														9			8		0	0	0.000274275	0	0
FAM65C	140876	broad.mit.edu	37	20	49224937	49224937	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr20:49224937C>T	uc010zyt.2	-	10	1196	c.945G>A	c.(943-945)gaG>gaA	p.E315E	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Silent_p.E311E|FAM65C_uc002xvn.1_Silent_p.E311E	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	311										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCACTGCACCTCCAGCTGCA	0.652000														39			32		0	0	0.000692331	0	0
GYS2	2998	broad.mit.edu	37	12	21716251	21716251	+	Silent	SNP	A	G	G			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr12:21716251A>G	uc001rfb.3	-	5	1107	c.852T>C	c.(850-852)gtT>gtC	p.V284V		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	284					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AAAATTTCTTAACATTCAAGC	0.338000														58			37		0	0	0.000814825	0	0
LRRC49	54839	broad.mit.edu	37	15	71305224	71305224	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr15:71305224C>T	uc010ukf.2	+	13	1996	c.1690C>T	c.(1690-1692)Cgt>Tgt	p.R564C	LRRC49_uc002asu.3_Missense_Mutation_p.R549C|LRRC49_uc002asx.3_Missense_Mutation_p.R515C|LRRC49_uc002asw.3_Missense_Mutation_p.R559C|LRRC49_uc002asy.3_Missense_Mutation_p.R265C|LRRC49_uc002asz.3_Missense_Mutation_p.R531C	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	559						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						ACCCCAGTATCGTCTGATTTC	0.363000														21			13		0	0	0.00185496	0	0
MS4A15	219995	broad.mit.edu	37	11	60541315	60541316	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr11:60541315_60541316GG>AA	uc009ynf.1	+	5	724_725	c.504_505GG>AA	c.(502-507)gtggac>gtAAac	p.D169N	MS4A15_uc001npx.2_Missense_Mutation_p.D76N|MS4A15_uc001npy.2_Non-coding_Transcript|MS4A15_uc009yng.1_Missense_Mutation_p.D128N	NM_001098835	NP_689930	Q8N5U1	M4A15_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 15 (MS4A15), transcript variant 1, mRNA.	169						integral to membrane	receptor activity			breast(1)|large_intestine(2)|lung(3)	6						CCCAGGATGTGGACAGGGGCTA	0.569000														67			19		0	0	6.4e-05	0	0
NR4A2	4929	broad.mit.edu	37	2	157183340	157183340	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr2:157183340G>A	uc002tyz.4	-	5	1673	c.1251C>T	c.(1249-1251)atC>atT	p.I417I	NR4A2_uc021vri.1_Silent_p.I392I|NR4A2_uc002tyx.4_Silent_p.I354I|NR4A2_uc010zcf.2_Silent_p.I417I|NR4A2_uc010zcg.1_Silent_p.I39I	NM_006186	NP_006177	P43354	NR4A2_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 2 (NR4A2), mRNA.	417	Ligand-binding (Potential).				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CCCAGCCCCGGATGATCTCCA	0.502000														158			60		0	0	0.000781405	0	0
HCN4	10021	broad.mit.edu	37	15	73615110	73615110	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr15:73615110G>A	uc002avp.3	-	7	4318	c.3324C>T	c.(3322-3324)tcC>tcT	p.S1108S		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	1108					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		ACTCCCCTGAGGAGTGCGGGG	0.736000														6			3		0	0	6.4e-05	0	0
RCE1	9986	broad.mit.edu	37	11	66613398	66613398	+	Silent	SNP	G	A	A	rs139646297		TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr11:66613398G>A	uc001ojk.1	+	7	866	c.822G>A	c.(820-822)gcG>gcA	p.A274A	RCE1_uc001ojl.1_Silent_p.A170A	NM_005133	NP_001027450	Q9Y256	FACE2_HUMAN	Homo sapiens RCE1 homolog, prenyl protein protease (S. cerevisiae) (RCE1), transcript variant 1, mRNA.	274					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity	p.C273C(1)		breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CTGTTTGCGCGGCCTTGGAGC	0.617000														73			12		0	0	0.00185496	0	0
BCAM	4059	broad.mit.edu	37	19	45317959	45317959	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr19:45317959G>A	uc002ozu.3	+	7	1064	c.1020G>A	c.(1018-1020)gaG>gaA	p.E340E	BCAM_uc002ozt.1_Silent_p.E340E	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	340	Ig-like C2-type 1.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GCAGAGTGGAGGATTACGACG	0.647000														294			142		0	0	0.000781405	0	0
DUXA	503835	broad.mit.edu	37	19	57666693	57666693	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr19:57666693C>T	uc002qoa.1	-	4	531	c.486G>A	c.(484-486)agG>agA	p.R162R		NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN	Homo sapiens double homeobox A (DUXA), mRNA.	162						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		CCACAGGTTCCCTTTTTCTCT	0.413000														70			13		0	0	0.000566183	0	0
HGFAC	3083	broad.mit.edu	37	4	3449240	3449240	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr4:3449240C>T	uc003ghc.3	+	10	1380	c.1377C>T	c.(1375-1377)tcC>tcT	p.S459S	HGFAC_uc010icw.3_Silent_p.S466S	NM_001528	NP_001519	Q04756	HGFA_HUMAN	Homo sapiens HGF activator (HGFAC), mRNA.	459	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		ACAGCGTCTCCGTGGTGCTGG	0.662000														70			30		0	0	0.001512	0	0
ARMC6	93436	broad.mit.edu	37	19	19162882	19162883	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr19:19162882_19162883GG>AA	uc002nld.3	+	4	1163_1164	c.731_732GG>AA	c.(730-732)tgg>tAA	p.W244*	ARMC6_uc002nlc.3_Nonsense_Mutation_p.W219*|ARMC6_uc010xql.2_Nonsense_Mutation_p.W151*|ARMC6_uc010xqm.2_Nonsense_Mutation_p.W244*	NM_001199196	NP_001186125	Q6NXE6	ARMC6_HUMAN	Homo sapiens armadillo repeat containing 6 (ARMC6), transcript variant 1, mRNA.	244							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			GAAGCCTGCTGGGCCCTGCGTG	0.579000														36			5		0	0	6.4e-05	0	0
SPTBN5	51332	broad.mit.edu	37	15	42145866	42145866	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr15:42145866G>A	uc001zos.3	-	57	10122	c.9789C>T	c.(9787-9789)acC>acT	p.T3263T	5S_rRNA_uc021sjn.1_5'Flank	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	3298					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCGCCTGCAGGGTGGCCCAGG	0.697000														31			5		0	0	0.000157383	0	0
SORCS2	57537	broad.mit.edu	37	4	7705995	7705995	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr4:7705995G>A	uc003gkb.4	+	13	1852	c.1852G>A	c.(1852-1854)Gag>Aag	p.E618K	SORCS2_uc011bwi.2_Missense_Mutation_p.E446K	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	618						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GCCAGGGGACGAGACGCTGGT	0.657000														20			6		0	0	0.00116845	0	0
C14orf109	26175	broad.mit.edu	37	14	93652793	93652793	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr14:93652793C>T	uc001ybk.4	+	1	271	c.173C>T	c.(172-174)tCc>tTc	p.S58F	MOAP1_uc001ybj.3_5'Flank|MOAP1_uc021saw.1_5'Flank|C14orf109_uc010auo.3_Missense_Mutation_p.S96F|C14orf109_uc021sax.1_Missense_Mutation_p.S58F	NM_015676	NP_056491	Q8N6I4	CN109_HUMAN	Homo sapiens chromosome 14 open reading frame 109 (C14orf109), transcript variant 2, mRNA.	90						integral to membrane				kidney(1)	1		all_cancers(154;0.11)|Acute lymphoblastic leukemia(33;0.0488)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		TGGACACACTCCTTGAAAGCT	0.423000														64			22		0	0	0.00229938	0	0
SIGLEC17P	284367	broad.mit.edu	37	19	51671524	51671524	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr19:51671524C>T	uc010ycv.2	+	2	673	c.663C>T	c.(661-663)atC>atT	p.I221I	SIGLEC17P_uc010ycu.2_Silent_p.I221I|SIGLEC17P_uc002pvy.4_Silent_p.I221I|SIGLEC17P_uc002pvz.4_Silent_p.I221I					Homo sapiens sialic acid binding Ig-like lectin, pseudogene 3 (SIGLECP3), non-coding RNA.									p.I200I(1)									TGCTCACGATCATCCCACGGC	0.632000														20			8		0	0	0.000442599	0	0
IPO5	3843	broad.mit.edu	37	13	98652899	98652899	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr13:98652899C>T	uc001vne.3	+	13	1342	c.1162_splice	c.e13+1	p.P388_splice	IPO5_uc001vnf.1_Splice_Site_p.P370_splice|IPO5_uc010tik.1_Splice_Site_p.P245_splice|IPO5_uc010til.1_Splice_Site_p.P310_splice|IPO5_uc001vng.1_5'Flank	NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	370					NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|Ran GTPase binding|protein transporter activity			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GCTTCAAAATCGTAAGCTGTG	0.398000														90			23		0	0	0.00047179	0	0
SRCIN1	80725	broad.mit.edu	37	17	36708983	36708983	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr17:36708983C>T	uc002hqd.3	-	11	2535	c.2310G>A	c.(2308-2310)ggG>ggA	p.G770G	SRCIN1_uc002hqf.1_Silent_p.G642G|SRCIN1_uc002hqe.2_Silent_p.G624G|SRCIN1_uc002hqg.3_Silent_p.G76G	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA.	642					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						TCAGCGTCTCCCCGAGCTGCT	0.617000														36			52		0	0	0.000781405	0	0
IGSF1	3547	broad.mit.edu	37	X	130419794	130419794	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chrX:130419794C>T	uc004ewe.4	-	3	609	c.326G>A	c.(325-327)tGg>tAg	p.W109*	IGSF1_uc004ewd.3_Nonsense_Mutation_p.W109*|IGSF1_uc022cdv.1_Nonsense_Mutation_p.W100*|IGSF1_uc004ewf.2_Nonsense_Mutation_p.W89*|IGSF1_uc022cdw.1_Nonsense_Mutation_p.W109*|IGSF1_uc004ewg.3_Nonsense_Mutation_p.W109*	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	109	Ig-like C2-type 1.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TGTCTCCTTCCAGTAGCAGCA	0.498000														73			42		0	0	0.00222228	0	0
ZNF184	7738	broad.mit.edu	37	6	27419241	27419241	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr6:27419241G>A	uc003njj.3	-	4	2908	c.2097C>T	c.(2095-2097)aaC>aaT	p.N699N	ZNF184_uc010jqv.3_Silent_p.N699N|ZNF184_uc003nji.3_Silent_p.N699N	NM_007149	NP_009080	Q99676	ZN184_HUMAN	Homo sapiens zinc finger protein 184 (ZNF184), mRNA.	699					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ATTCATTACAGTTATAAGGTT	0.413000														47			19		0	0	0.00121646	0	0
SMOC1	64093	broad.mit.edu	37	14	70442529	70442529	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr14:70442529C>T	uc001xlt.2	+	3	758	c.476C>T	c.(475-477)tCa>tTa	p.S159L	SMOC1_uc001xls.2_Missense_Mutation_p.S159L	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	159					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CCTGTATGTTCAGGTACCGTA	0.527000														19			9		0	0	0.000673444	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768164	77768164	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr8:77768164G>A	uc003yau.2	+	9	9394	c.9007G>A	c.(9007-9009)Gaa>Aaa	p.E3003K	ZFHX4_uc003yaw.1_Missense_Mutation_p.E2958K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2958						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGGCGGAACGGAAGGCACCAA	0.458000										HNSCC(33;0.089)				8			4		0	0	0.00024832	0	0
CHAT	1103	broad.mit.edu	37	10	50856615	50856615	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr10:50856615C>T	uc001jhz.2	+	8	1497	c.1344C>T	c.(1342-1344)atC>atT	p.I448I	CHAT_uc001jhv.1_Silent_p.I330I|CHAT_uc001jhx.1_Silent_p.I330I|CHAT_uc001jhy.1_Silent_p.I330I|CHAT_uc001jia.2_Silent_p.I366I|CHAT_uc010qgs.1_Silent_p.I330I	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	448					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	TCGATGGCATCGTCCTGGTGC	0.607000														23			13		0	0	0.00244969	0	0
HDAC5	10014	broad.mit.edu	37	17	42156583	42156583	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr17:42156583C>T	uc002iff.1	-	23	3342	c.3010G>A	c.(3010-3012)Gag>Aag	p.E1004K	HDAC5_uc002ifd.1_Missense_Mutation_p.E1003K|HDAC5_uc002ife.1_Missense_Mutation_p.E1003K|HDAC5_uc010czp.1_Missense_Mutation_p.E918K	NM_001015053	NP_001015053	Q9UQL6	HDAC5_HUMAN	Homo sapiens histone deacetylase 5 (HDAC5), transcript variant 3, mRNA.	1003	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TGGCCTCCCTCCAGGGCCAGC	0.607000														26			29		0	0	0.000878237	0	0
SLC45A4	57210	broad.mit.edu	37	8	142229076	142229077	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr8:142229076_142229077GG>AA	uc003ywd.1	-	3	817_818	c.509_510CC>TT	c.(508-510)acc>aTT	p.T170I	SLC45A4_uc003ywc.1_Missense_Mutation_p.T170I|SLC45A4_uc010meq.1_Missense_Mutation_p.T168I	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	221					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TGCCCAGGAAGGTCTGGGTCCA	0.658000														75			11		0	0	6.4e-05	0	0
NES	10763	broad.mit.edu	37	1	156642965	156642965	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr1:156642965G>A	uc001fpq.3	-	3	1148	c.1015C>T	c.(1015-1017)Cca>Tca	p.P339S	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	339	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|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)					CGGCCCTCTGGGGTCCTAGGG	0.587000														24			6		0	0	0.00198382	0	0
TTLL4	9654	broad.mit.edu	37	2	219614105	219614105	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr2:219614105C>T	uc002viy.3	+	13	3100	c.2730C>T	c.(2728-2730)tcC>tcT	p.S910S	TTLL4_uc010zkl.1_Silent_p.S745S|TTLL4_uc010fvx.3_Silent_p.S846S|TTLL4_uc010zkm.1_Silent_p.S113S	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA.	910	TTL.				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TCAACATTTCCCCAAGGTAGG	0.443000														27			13		0	0	0.000308642	0	0
FAM166A	401565	broad.mit.edu	37	9	140140000	140140000	+	Missense_Mutation	SNP	G	A	A	rs77069806	by1000genomes	TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr9:140140000G>A	uc004cmi.1	-	2	336	c.281C>T	c.(280-282)cCc>cTc	p.P94L		NM_001001710	NP_001001710	Q6J272	F166A_HUMAN	Homo sapiens family with sequence similarity 166, member A (FAM166A), mRNA.	94										kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						GTTCTTAGAGGGCTTCAGACC	0.622000														58			8		0	0	0.000673444	0	0
C1QTNF8	390664	broad.mit.edu	37	16	1144728	1144728	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr16:1144728G>A	uc010uuw.1	-	2	469	c.195C>T	c.(193-195)atC>atT	p.I65I		NM_207419	NP_997302	P60827	C1QT8_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 8 (C1QTNF8), mRNA.	65						collagen				lung(2)|prostate(1)|skin(1)	4		Hepatocellular(780;0.00369)				TGAGGATTTCGATGTCTATAG	0.672000														15			18		0	0	0.000958276	0	0
ACAA1	30	broad.mit.edu	37	3	38167171	38167171	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr3:38167171G>A	uc003cht.3	-	10	1291	c.1084C>T	c.(1084-1086)Ccc>Tcc	p.P362S	ACAA1_uc003chu.3_Missense_Mutation_p.P269S	NM_001607	NP_001598	P09110	THIK_HUMAN	Homo sapiens acetyl-CoA acyltransferase 1 (ACAA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	362					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		TTCTCAGGGGGGAGTCGTAGC	0.622000														22			10		0	0	0.000442599	0	0
KLHL13	90293	broad.mit.edu	37	X	117033291	117033291	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chrX:117033291G>A	uc011mtp.2	-	7	1690	c.1557C>T	c.(1555-1557)atC>atT	p.I519I	KLHL13_uc004eqk.3_Silent_p.I465I|KLHL13_uc004eql.3_Silent_p.I516I|KLHL13_uc011mtn.2_Silent_p.I356I|KLHL13_uc011mto.2_Silent_p.I510I|KLHL13_uc011mtq.2_Silent_p.I500I|KLHL13_uc004eqm.3_Silent_p.I474I|KLHL13_uc022cde.1_Silent_p.I500I	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	516					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		p.A519V(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GCGCCTTCTGGATCCATTTGT	0.423000														35			11		0	0	0.00136819	0	0
abParts	0	broad.mit.edu	37	22	22677150	22677150	+	RNA	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr22:22677150C>T	uc021wml.1	+	37		c.3775C>T			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		CCAGCAGCTCCCAGGAACAGC	0.542000														74			84		0	0	0.000781405	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49344564	49344564	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr19:49344564G>A	uc002pkx.3	-	16	2298	c.1747C>T	c.(1747-1749)Ccg>Tcg	p.P583S	PLEKHA4_uc010eml.3_Intron	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA.	583						cytoplasm|membrane	1-phosphatidylinositol binding	p.P583P(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CGGGCCACCGGGGCCTAGGGA	0.647000														26			9		0	0	0.000673444	0	0
RBM25	58517	broad.mit.edu	37	14	73581037	73581037	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr14:73581037C>T	uc010ttu.2	+	18	2711	c.2435C>T	c.(2434-2436)gCc>gTc	p.A812V	RBM25_uc001xno.3_Missense_Mutation_p.A812V|RBM25_uc001xnp.3_Missense_Mutation_p.A607V	NM_021239	NP_067062	P49756	RBM25_HUMAN	Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.	812	PWI.				RNA splicing|apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		GATGATGTTGCCATGGTAAGT	0.279000														194			70		0	0	0.000781405	0	0
DCAF4	26094	broad.mit.edu	37	14	73404716	73404717	+	Nonsense_Mutation	DNP	AC	TT	TT			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr14:73404716_73404717AC>TT	uc001xng.3	+	1	250_251	c.30_31AC>TT	c.(28-33)agacga>agTTga	p.10_11RR>S*	DCAF4_uc010ttr.2_5'UTR|DCAF4_uc001xnj.3_Nonsense_Mutation_p.10_11RR>S*|DCAF4_uc001xnh.3_Intron|DCAF4_uc010tts.2_Nonsense_Mutation_p.10_11RR>S*|DCAF4_uc010ttt.2_5'UTR|DCAF4_uc001xni.3_Nonsense_Mutation_p.10_11RR>S*|DCAF4_uc001xnk.3_Nonsense_Mutation_p.10_11RR>S*	NM_015604	NP_851937	Q8WV16	DCAF4_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4 (DCAF4), transcript variant 1, mRNA.	10						CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						AGAGTAGAAGACGACATGGGAG	0.475000														119			56		0	0	6.4e-05	0	0
GTPBP2	54676	broad.mit.edu	37	6	43592393	43592393	+	Silent	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr6:43592393G>A	uc003ovs.3	-	6	991	c.954C>T	c.(952-954)atC>atT	p.I318I	GTPBP2_uc010jyv.3_Silent_p.I230I	NM_019096	NP_061969	Q9BX10	GTPB2_HUMAN	Homo sapiens GTP binding protein 2 (GTPBP2), mRNA.	318							GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CACATAGGTCGATCTTGCTGA	0.602000														71			11		0	0	0.000978159	0	0
SF3B1	23451	broad.mit.edu	37	2	198265476	198265476	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr2:198265476T>C	uc002uue.3	-	17	2729	c.2681A>G	c.(2680-2682)gAt>gGt	p.D894G	SNORD2_uc021vul.1_5'Flank	NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	894					nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding	p.D894G(2)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AAGAATACCATCAATCAGTTG	0.333000			Mis		myelodysplastic syndrome									25			12		0	0	0.00244969	0	0
KALRN	8997	broad.mit.edu	37	3	124420920	124420920	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr3:124420920G>A	uc003ehg.3	+	56	8159	c.8032G>A	c.(8032-8034)Gaa>Aaa	p.E2678K	KALRN_uc003ehk.3_Missense_Mutation_p.E981K	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2677					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TTCTTGGAAGGAAAATTTTGA	0.358000														50			18		0	0	0.00188189	0	0
JSRP1	126306	broad.mit.edu	37	19	2252666	2252666	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr19:2252666C>T	uc002lvj.2	-	6	729	c.658G>A	c.(658-660)Gga>Aga	p.G220R		NM_144616	NP_653217	Q96MG2	JSPR1_HUMAN	Homo sapiens junctional sarcoplasmic reticulum protein 1 (JSRP1), mRNA.	220						sarcoplasmic reticulum membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGGCCTCTCCGGTGGCCTCG	0.711000														85			39		0	0	0.00195071	0	0
WARS2	10352	broad.mit.edu	37	1	119575597	119575597	+	Silent	SNP	T	C	C			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr1:119575597T>C	uc001ehn.3	-	5	1048	c.1020A>G	c.(1018-1020)gcA>gcG	p.A340A	WARS2_uc010oxf.2_Silent_p.A246A|WARS2_uc001ehm.3_3'UTR|WARS2_uc010oxg.2_Silent_p.A283A|WARS2_uc010oxh.2_3'UTR	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	Homo sapiens tryptophanyl tRNA synthetase 2, mitochondrial (WARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	340					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	CTTTGGCTTTTGCTGATCCAA	0.408000														107			36		0	0	0.000692331	0	0
LIPF	8513	broad.mit.edu	37	10	90427420	90427420	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr10:90427420G>A	uc001kfg.2	+	2	314	c.200G>A	c.(199-201)gGg>gAg	p.G67E	LIPF_uc009xtk.3_Missense_Mutation_p.G67E|LIPF_uc001kfh.2_Missense_Mutation_p.G77E|LIPF_uc010qmt.2_Missense_Mutation_p.G77E|LIPF_uc010qmu.2_Missense_Mutation_p.G67E	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	67					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		ATTCCTTATGGGAAGAAAAAT	0.358000														114			16		0	0	0.000958276	0	0
BAHCC1	57597	broad.mit.edu	37	17	79428154	79428154	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr17:79428154C>T	uc002kaf.2	+	24	6279	c.6279C>T	c.(6277-6279)gcC>gcT	p.A2093A	BAHCC1_uc002kae.2_Silent_p.A1385A	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	2155							DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			GCTTCCGCGCCGACTCCTTCA	0.692000														16			4		0	0	0.000602214	0	0
SOX21	11166	broad.mit.edu	37	13	95364222	95364222	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr13:95364222G>A	uc001vma.3	-	0	168	c.82C>T	c.(82-84)Cag>Tag	p.Q28*	AK055459_uc001vmb.1_5'Flank	NM_007084	NP_009015	Q9Y651	SOX21_HUMAN	Homo sapiens SRY (sex determining region Y)-box 21 (SOX21), mRNA.	28					regulation of transcription from RNA polymerase II promoter|stem cell differentiation	nucleus	DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6	all_neural(89;0.0646)|Medulloblastoma(90;0.163)					GGGTTCTCCTGGGCCATCTTG	0.647000														23			8		0	0	0.000274275	0	0
OR7D4	125958	broad.mit.edu	37	19	9325039	9325039	+	Missense_Mutation	SNP	G	A	A	rs140587334		TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr19:9325039G>A	uc002mla.2	-	0	509	c.475C>T	c.(475-477)Cat>Tat	p.H159Y		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H159Y(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						AGTAGAATATGAACCAGGGAG	0.522000														32			14		0	0	0.00185496	0	0
SBNO1	55206	broad.mit.edu	37	12	123829915	123829915	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr12:123829915G>A	uc010tap.2	-	2	440	c.440C>T	c.(439-441)cCt>cTt	p.P147L	SBNO1_uc010tao.2_Missense_Mutation_p.P146L|SBNO1_uc010taq.2_Intron|SBNO1_uc001ueu.2_Missense_Mutation_p.P146L|SBNO1_uc001uet.2_Missense_Mutation_p.P147L|SBNO1_uc001uev.2_Missense_Mutation_p.P145L|SBNO1_uc009zxy.1_Missense_Mutation_p.P112L	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	147							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GTCTTTTGAAGGTGCAGAGGT	0.418000														106			47		0	0	0.000781405	0	0
KDR	3791	broad.mit.edu	37	4	55976861	55976861	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr4:55976861G>A	uc003has.3	-	7	1353	c.1051C>T	c.(1051-1053)Cct>Tct	p.P351S	KDR_uc003hat.1_Missense_Mutation_p.P351S|KDR_uc011bzx.2_Missense_Mutation_p.P351S	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	351	Ig-like C2-type 4.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TACTTCGCAGGGATTCTGACA	0.413000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				29			10		0	0	0.000978159	0	0
MUC6	4588	broad.mit.edu	37	11	1019476	1019477	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr11:1019476_1019477CC>TT	uc001lsw.2	-	29	3879_3880	c.3828_3829GG>AA	c.(3826-3831)acggcc>acAAcc	p.A1277T		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1277	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGGTGACGGCCGTGGTTGGTC	0.639000														114			26		0	0	6.4e-05	0	0
MMAA	166785	broad.mit.edu	37	4	146560228	146560228	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr4:146560228G>A	uc003ikh.4	+	2	21	c.-64_splice	c.e2-1		MMAA_uc010iow.3_Splice_Site	NM_172250	NP_758454	Q8IVH4	MMAA_HUMAN	Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA), nuclear gene encoding mitochondrial protein, mRNA.							mitochondrion	GTP binding|nucleoside-triphosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTCTTCTAGGGAGGTCACAAT	0.388000														26			8		0	0	0.000157383	0	0
LMTK2	22853	broad.mit.edu	37	7	97822756	97822756	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr7:97822756C>T	uc003upd.2	+	10	3272	c.2979C>T	c.(2977-2979)tcC>tcT	p.S993S		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	993					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CTGAGCCGTCCCTGGAAACCC	0.587000														113			58		0	0	0.000781405	0	0
PSG5	5673	broad.mit.edu	37	19	43680036	43680036	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr19:43680036G>A	uc002ovu.3	-	2	826	c.695C>T	c.(694-696)aCc>aTc	p.T232I	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.T232I	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	232	Ig-like C2-type 1.			T -> S (in Ref. 2; AAA60205 and 3; AAA36514).	female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GACATTCAGGGTGACTGGGTC	0.498000														30			11		0	0	0.000673444	0	0
STYK1	55359	broad.mit.edu	37	12	10783853	10783853	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr12:10783853C>T	uc001qys.2	-	4	763	c.242G>A	c.(241-243)gGa>gAa	p.G81E		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA.	81						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						AGCCACATTTCCTCCATGTCC	0.557000										HNSCC(73;0.22)				49			32		0	0	0.000692331	0	0
KRIT1	889	broad.mit.edu	37	7	91842565	91842565	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr7:91842565G>A	uc003ulr.1	-	16	2861	c.1969C>T	c.(1969-1971)Cct>Tct	p.P657S	KRIT1_uc010lev.1_Missense_Mutation_p.P414S|KRIT1_uc003ulq.1_Missense_Mutation_p.P657S|KRIT1_uc003uls.1_Missense_Mutation_p.P657S|KRIT1_uc003ult.1_Missense_Mutation_p.P609S|KRIT1_uc003ulu.1_Missense_Mutation_p.P657S|KRIT1_uc003ulv.1_Missense_Mutation_p.P657S	NM_004912	NP_919438	O00522	KRIT1_HUMAN	Homo sapiens KRIT1, ankyrin repeat containing (KRIT1), transcript variant 2, mRNA.	657	FERM.|Required for RAP1A binding.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACATACACAGGGATGACTTTA	0.368000														71			6		0	0	0.000274275	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145773187	145773187	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr8:145773187G>A	uc003zds.1	-	5	1838	c.1283C>T	c.(1282-1284)tCc>tTc	p.S428F	ARHGAP39_uc011llk.1_Missense_Mutation_p.S428F|ARHGAP39_uc003zdt.1_Missense_Mutation_p.S428F	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	428					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GGGCTGCAAGGAGTACGAACC	0.711000														16			4		0	0	0.00024832	0	0
ARMC4	55130	broad.mit.edu	37	10	28225687	28225687	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr10:28225687C>T	uc009xky.3	-	14	2318	c.2220G>A	c.(2218-2220)tgG>tgA	p.W740*	ARMC4_uc010qds.2_Nonsense_Mutation_p.W265*|ARMC4_uc010qdt.2_Nonsense_Mutation_p.W432*|ARMC4_uc001itz.3_Nonsense_Mutation_p.W740*	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	740							binding	p.W740*(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGGAACATTTCCATATAGCCC	0.443000														45			8		0	0	0.000673444	0	0
OR4D10	390197	broad.mit.edu	37	11	59245544	59245544	+	Silent	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr11:59245544C>T	uc001nnz.1	+	0	642	c.642C>T	c.(640-642)ctC>ctT	p.L214L		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA.	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTTCCTGCTCCTGGTGTCCT	0.488000														17			6		0	0	0.00116845	0	0
OR5D14	219436	broad.mit.edu	37	11	55563485	55563485	+	Missense_Mutation	SNP	C	T	T	rs138241507		TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr11:55563485C>T	uc010rim.2	+	0	454	c.454C>T	c.(454-456)Ctc>Ttc	p.L152F		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGGGTCATATCTCTGGGGCAT	0.498000														17			4		0	0	0.00024832	0	0
HIVEP2	3097	broad.mit.edu	37	6	143092937	143092937	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr6:143092937G>A	uc003qjd.3	-	4	3682	c.2939C>T	c.(2938-2940)tCc>tTc	p.S980F		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	980	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AAAAGACATGGAGAAACTGGA	0.512000														61			42		0	0	0.00222228	0	0
MAPK15	225689	broad.mit.edu	37	8	144801635	144801635	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr8:144801635C>T	uc003yzj.3	+	6	745	c.704C>T	c.(703-705)cCa>cTa	p.P235L		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.	235	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAGACCATCCCACCGCCATCT	0.657000														33			10		0	0	0.000442599	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110509266	110509266	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr8:110509266G>C	uc003yne.3	+	63	10550	c.10446G>C	c.(10444-10446)tgG>tgC	p.W3482C		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3482					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTACCATTTGGACATGCTGGG	0.338000										HNSCC(38;0.096)				81			26		0	0	0.00047179	0	0
TACC2	10579	broad.mit.edu	37	10	123842478	123842478	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr10:123842478C>T	uc001lfv.3	+	3	823	c.463C>T	c.(463-465)Ccc>Tcc	p.P155S	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.P155S|TACC2_uc010qtv.2_Missense_Mutation_p.P155S	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	155						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGCGGCATTTCCCGCTGAGAG	0.587000														18			7		0	0	0.00198382	0	0
TP53I13	90313	broad.mit.edu	37	17	27899038	27899038	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr17:27899038C>T	uc002hee.3	+	4	514	c.476C>T	c.(475-477)cCc>cTc	p.P159L		NM_138349	NP_612358	Q8NBR0	P5I13_HUMAN	Homo sapiens tumor protein p53 inducible protein 13 (TP53I13), mRNA.	159						cytoplasm|integral to membrane|plasma membrane				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		GAGCCAACTCCCGGTAGAGGG	0.622000														23			28		0	0	0.001512	0	0
ABCC4	10257	broad.mit.edu	37	13	95858979	95858979	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr13:95858979G>A	uc001vmd.4	-	7	1087	c.968C>T	c.(967-969)tCa>tTa	p.S323L	ABCC4_uc010afk.3_Missense_Mutation_p.S323L|ABCC4_uc001vme.2_Missense_Mutation_p.S323L|ABCC4_uc010tih.1_Missense_Mutation_p.S248L|ABCC4_uc001vmf.2_Missense_Mutation_p.S280L|ABCC4_uc010afl.1_Missense_Mutation_p.S280L|ABCC4_uc010afm.1_Missense_Mutation_p.S336L	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	323	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	ACTGAAAAATGAAGCCAAATT	0.473000														110			32		0	0	0.00111076	0	0
PLXNC1	10154	broad.mit.edu	37	12	94673364	94673364	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr12:94673364C>G	uc001tdc.3	+	21	3963	c.3714C>G	c.(3712-3714)ttC>ttG	p.F1238L	PLXNC1_uc010sut.2_Missense_Mutation_p.F285L|PLXNC1_uc009zsv.3_5'UTR	NM_005761	NP_005752	O60486	PLXC1_HUMAN	Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.	1238					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAAAGATTTTCCAAGCATTCT	0.448000														90			19		0	0	0.00188189	0	0
SRSF4	6429	broad.mit.edu	37	1	29475298	29475309	+	In_Frame_Del	DEL	CTGCGACTGCGA	-	-	rs146585589	byFrequency	TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr1:29475298_29475309delCTGCGACTGCGA	uc001bro.3	-	5	1471_1482	c.1098_1109delTCGCAGTCGCAG	c.(1096-1110)agtcgcagtcgcagc>agc	p.366_370SRSRS>S	SRSF4_uc010ofy.2_3'UTR	NM_005626	NP_005617	Q08170	SRSF4_HUMAN	Homo sapiens serine/arginine-rich splicing factor 4 (SRSF4), mRNA.	366	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	RNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						cttgctgcggctgcgactgcgactgcggctct	0.618													---	22	---	---	8	---					
APOA1BP	128240	broad.mit.edu	37	1	156562376	156562376	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr1:156562376delA	uc001fph.3	+	3	469	c.430delA	c.(430-432)aaafs	p.K144fs	APOA1BP_uc001fpi.3_Frame_Shift_Del_p.K144fs|APOA1BP_uc001fpk.3_Frame_Shift_Del_p.K41fs|APOA1BP_uc010php.1_Frame_Shift_Del_p.K41fs	NM_144772	NP_658985	Q8NCW5	AIBP_HUMAN	Homo sapiens apolipoprotein A-I binding protein (APOA1BP), mRNA.	144	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTATTACCCCAAAAGGCCTAA	0.567													---	368	---	---	7	---					
NCOA1	8648	broad.mit.edu	37	2	24985616	24985618	+	In_Frame_Del	DEL	CTT	-	-			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr2:24985616_24985618delCTT	uc002rfk.3	+	19	4385_4387	c.4126_4128delCTT	c.(4126-4128)cttdel	p.L1377del	NCOA1_uc010eye.3_In_Frame_Del_p.L1377del|NCOA1_uc002rfi.3_In_Frame_Del_p.L1226del|NCOA1_uc002rfj.3_In_Frame_Del_p.L1377del|NCOA1_uc002rfl.3_In_Frame_Del_p.L1377del|NCOA1_uc010eyf.3_Intron	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	1377									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCCACTGACCTTCTCAAAACAG	0.424			T	PAX3	alveolar rhadomyosarcoma								---	268	---	---	91	---					
ZXDC	79364	broad.mit.edu	37	3	126178522	126178522	+	Frame_Shift_Del	DEL	T	-	-			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr3:126178522delT	uc003eiv.3	-	6	2240	c.2186delA	c.(2185-2187)aagfs	p.K729fs	ZXDC_uc010hsh.3_Intron|ZXDC_uc003eix.2_3'UTR	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	Homo sapiens ZXD family zinc finger C (ZXDC), transcript variant 1, mRNA.	729					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|LRR domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		TCCTCTCTGCTTTTTTTCCTT	0.522													---	785	---	---	7	---					
ARHGAP10	79658	broad.mit.edu	37	4	148827861	148827861	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr4:148827861delA	uc003ilf.3	+	10	1107	c.1107delA	c.(1105-1107)ggafs	p.G369fs	ARHGAP10_uc003ilg.3_Frame_Shift_Del_p.G18fs	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Homo sapiens Rho GTPase activating protein 10 (ARHGAP10), mRNA.	369	PH.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		CTCTGGGTGGAAAGGAAGCTG	0.393													---	65	---	---	13	---					
C8orf86	389649	broad.mit.edu	37	8	38385986	38385987	+	Frame_Shift_Ins	INS	-	CC	CC			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr8:38385986_38385987insCC	uc003xlx.1	-	0	194_195	c.169_170insGG	c.(169-171)gttfs	p.V57fs		NM_207412	NP_997295	Q6ZUL3	CH086_HUMAN	Homo sapiens chromosome 8 open reading frame 86 (C8orf86), mRNA.	57										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						TCGCTGCTCAACCCTTTCCTTC	0.550													---	46	---	---	15	---					
TEP1	7011	broad.mit.edu	37	14	20852647	20852647	+	Frame_Shift_Del	DEL	C	-	-			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr14:20852647delC	uc001vxe.3	-	22	3282	c.3242delG	c.(3241-3243)ggtfs	p.G1081fs	TEP1_uc010ahk.3_Frame_Shift_Del_p.G431fs|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Frame_Shift_Del_p.G973fs|TEP1_uc010tlh.1_5'Flank	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1081					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.V1082fs*47(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGCTGCCACACCCCCCCACTC	0.587													---	401	---	---	7	---					
CTAGE5	4253	broad.mit.edu	37	14	39746242	39746243	+	Frame_Shift_Ins	INS	-	T	T	rs75842899	byFrequency	TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr14:39746242_39746243insT	uc001wvi.4	+	1	504_505	c.168_169insT	c.(166-171)ctctttfs	p.L56fs	CTAGE5_uc010tqe.1_Frame_Shift_Ins_p.L44fs|CTAGE5_uc001wuy.4_5'UTR|CTAGE5_uc001wuz.4_Frame_Shift_Ins_p.L44fs|CTAGE5_uc001wva.4_Frame_Shift_Ins_p.L27fs|CTAGE5_uc001wvb.4_Frame_Shift_Ins_p.L27fs|CTAGE5_uc001wvc.4_Frame_Shift_Ins_p.L27fs|CTAGE5_uc001wve.1_Frame_Shift_Ins_p.L27fs|CTAGE5_uc001wvf.4_Intron|CTAGE5_uc001wvg.4_Frame_Shift_Ins_p.L56fs|CTAGE5_uc001wvh.4_Frame_Shift_Ins_p.L56fs|CTAGE5_uc010amz.3_5'UTR|CTAGE5_uc001wvj.4_Frame_Shift_Ins_p.L27fs	NM_001247989	NP_001234918	O15320	CTGE5_HUMAN	Homo sapiens CTAGE family, member 5 (CTAGE5), transcript variant 6, mRNA.	56							enzyme activator activity|protein binding		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TTGCTGTTCTCTTTTTTTTGTG	0.371													---	144	---	---	8	---					
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	-	-	rs56192595		TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	uc002bon.3	+	0	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gaggggcaggggcaagggcaggggcag>gag	p.GQGQGQGQ195del	MESP2_uc010uqa.2_Intron	NM_001039958	NP_001035047	Q0VG99	MESP2_HUMAN	Homo sapiens mesoderm posterior 2 homolog (mouse) (MESP2), mRNA.	195	13 X 2 AA tandem repeats of G-Q.				Notch signaling pathway	nucleus	DNA binding	p.Q198_G205delQGQGQGQG(2)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777													---	4	---	---	2	---					
COIL	8161	broad.mit.edu	37	17	55028117	55028118	+	Frame_Shift_Ins	INS	-	T	T			TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr17:55028117_55028118insT	uc002iuu.3	-	1	516_517	c.485_486insA	c.(484-486)aacfs	p.N162fs		NM_004645	NP_004636	P38432	COIL_HUMAN	Homo sapiens coilin (COIL), mRNA.	162						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					TTTTTCTCTTGTTTTTTTTGCT	0.366													---	271	---	---	15	---					
C22orf32	91689	broad.mit.edu	37	22	42478046	42478048	+	In_Frame_Del	DEL	GAT	-	-	rs141840500		TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d6341f-cb6d-4a7e-9213-c7bb394aca56	bf91785e-7b33-4bd0-8ff5-c20c20b4e985	g.chr22:42478046_42478048delGAT	uc003bca.3	+	1	382_384	c.304_306delGAT	c.(304-306)gatdel	p.D107del		NM_033318	NP_201575	Q9H4I9	CV032_HUMAN	Homo sapiens chromosome 22 open reading frame 32 (C22orf32), mRNA.	107	Asp/Glu-rich.					integral to membrane|mitochondrion				ovary(1)	1						TGTTCCAGAGGATGATGATGATG	0.478													---	253	---	---	7	---