Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PTCHD3	374308	broad.mit.edu	37	10	27687789	27687789	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr10:27687789C>T	ENST00000438700.3	-	4	1855	c.1738G>A	c.(1738-1740)Gat>Aat	p.D580N		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	580					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GGATGGATATCAGTTCCATGT	0.383000													21	7					0	0	0.000229342	0	0
IFNL2	282616	broad.mit.edu	37	19	39760175	39760175	+	Silent	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr19:39760175G>A	ENST00000331982.5	+	4	373	c.318G>A	c.(316-318)ctG>ctA	p.L106L		NM_172138.1	NP_742150.1			interferon, lambda 2																		CCCTGACGCTGAAGGTTCTGG	0.637000													15	24					0	0	0.000566183	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716597	13716597	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr12:13716597C>T	ENST00000279593.3	-	13	3784	c.3575G>A	c.(3574-3576)gGg>gAg	p.G1192E		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1192					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGCAGGTACCCCGCTGACCAC	0.617000													29	36					0	0	0.000491102	0	0
CCDC105	126402	broad.mit.edu	37	19	15132664	15132664	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr19:15132664G>A	ENST00000292574.3	+	6	1266	c.1184G>A	c.(1183-1185)aGa>aAa	p.R395K		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	395					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						AAGCTGGACAGACCCCTGGTT	0.642000													14	13					0	0	0.000566183	0	0
DDX60	55601	broad.mit.edu	37	4	169227844	169227844	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr4:169227844G>A	ENST00000393743.3	-	5	583	c.292C>T	c.(292-294)Cct>Tct	p.P98S		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	98							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AGAAGTTCAGGGAAGTTGAAA	0.353000													24	29					0	0	0.000720815	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576831	158576831	+	Silent	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:158576831C>T	ENST00000361284.1	+	1	603	c.603C>T	c.(601-603)atC>atT	p.I201I		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GGATCTTTATCCTCAGTCTTT	0.522000													43	67					0	0	0.000781405	0	0
SNORD113-9	767569	broad.mit.edu	37	14	101412024	101412024	+	RNA	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr14:101412024G>A	ENST00000365080.1	+	0	39					NR_003237.1																						CTGAATCTTGGATTTTGATTA	0.348000													69	48					0	0	0.000781405	0	0
SCN5A	6331	broad.mit.edu	37	3	38601660	38601660	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr3:38601660C>T	ENST00000413689.1	-	23	4416	c.4223G>A	c.(4222-4224)gGg>gAg	p.G1408E	SCN5A_ENST00000423572.2_Missense_Mutation_p.G1407E|SCN5A_ENST00000425664.1_Missense_Mutation_p.G1408E|SCN5A_ENST00000414099.2_Missense_Mutation_p.G1408E|SCN5A_ENST00000455624.2_Missense_Mutation_p.G1407E|SCN5A_ENST00000451551.2_Missense_Mutation_p.G1354E|SCN5A_ENST00000333535.4_Missense_Mutation_p.G1408E|SCN5A_ENST00000450102.2_Missense_Mutation_p.G1354E|SCN5A_ENST00000449557.2_Missense_Mutation_p.G1354E|SCN5A_ENST00000443581.1_Missense_Mutation_p.G1407E	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1408			G -> R (in SSS1 and BRS1; also in cardiac conduction defect; dbSNP:rs28936971).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGCCAGGTACCCGGCCCCCAC	0.542000													4	4					0	0	0.000602214	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57873182	57873182	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr12:57873182G>A	ENST00000393797.2	-	5	413	c.221C>T	c.(220-222)tCc>tTc	p.S74F	ARHGAP9_ENST00000550288.1_Missense_Mutation_p.S82F|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.S3F|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.S3F|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.S3F			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	3	SH3.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CCACCGGCTGGATAGCATTGT	0.572000													12	16					0	0	0.00010058	0	0
MUC16	94025	broad.mit.edu	37	19	9089934	9089934	+	Silent	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr19:9089934G>A	ENST00000397910.4	-	1	2084	c.1881C>T	c.(1879-1881)ctC>ctT	p.L627L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	627	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						TGGCTCTGGTGAGTAGGTGGG	0.587000													24	31					0	0	0.000586117	0	0
GRID2	2895	broad.mit.edu	37	4	94032039	94032039	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr4:94032039C>T	ENST00000282020.4	+	4	928	c.670C>T	c.(670-672)Cga>Tga	p.R224*	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Nonsense_Mutation_p.R129*	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	224					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GAATCGCTATCGAGACACTCT	0.413000													44	70					0	0	0.000781405	0	0
KCNH6	81033	broad.mit.edu	37	17	61611442	61611442	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr17:61611442G>T	ENST00000583023.1	+	5	882	c.871G>T	c.(871-873)Ggg>Tgg	p.G291W	KCNH6_ENST00000580652.1_Missense_Mutation_p.G291W|KCNH6_ENST00000581784.1_Missense_Mutation_p.G291W|KCNH6_ENST00000314672.5_Missense_Mutation_p.G291W|KCNH6_ENST00000456941.2_Missense_Mutation_p.G291W	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	291					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	ATCACGGCGTGGGGCCTGCAG	0.582000													5	45					3.07112e-06	4.93529e-05	0.000978159	1	0
IL36A	27179	broad.mit.edu	37	2	113763452	113763452	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr2:113763452G>A	ENST00000259211.6	+	1	415	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	2					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						CACCACAATGGAAAAAGGTAA	0.443000													15	28					0	0	0.00074312	0	0
PATZ1	23598	broad.mit.edu	37	22	31741169	31741169	+	Silent	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr22:31741169G>A	ENST00000266269.5	-	1	1049	c.420C>T	c.(418-420)gcC>gcT	p.A140A	PATZ1_ENST00000215919.3_Silent_p.A140A|PATZ1_ENST00000405309.3_Silent_p.A140A|PATZ1_ENST00000351933.4_Silent_p.A140A	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	140					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						GCAGGAACTTGGCGGCCGTCA	0.547000													36	65					0	0	0.000437636	0	0
SDK1	221935	broad.mit.edu	37	7	4213962	4213962	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr7:4213962C>T	ENST00000404826.2	+	33	5048	c.4909C>T	c.(4909-4911)Cct>Tct	p.P1637S	SDK1_ENST00000389531.3_Missense_Mutation_p.P1637S	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1637	Fibronectin type-III 10.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCTCAAAAACCCTATAGCTTT	0.552000													23	85					0	0	0.000586117	0	0
IL23R	149233	broad.mit.edu	37	1	67635191	67635191	+	Silent	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:67635191G>A	ENST00000347310.5	+	3	408	c.237G>A	c.(235-237)agG>agA	p.R79R	C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000371002.1_Silent_p.R79R	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	79					inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						AAATCACAAGGATTAATAAAA	0.348000													47	87					0	0	0.000781405	0	0
MAGEE1	57692	broad.mit.edu	37	X	75651013	75651013	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chrX:75651013A>G	ENST00000361470.2	+	1	2968	c.2690A>G	c.(2689-2691)tAt>tGt	p.Y897C		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	897	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCAGTGCAATATGAGTTTGTA	0.478000													19	4					0	0	0.000295444	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503831	140503831	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr5:140503831G>A	ENST00000194152.1	+	1	2251	c.2251G>A	c.(2251-2253)Gag>Aag	p.E751K		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		751					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTACCAGTACGAGGTGTGTCT	0.597000													31	45					0	0	0.000409698	0	0
PCDHGC4	56098	broad.mit.edu	37	5	140865726	140865726	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr5:140865726C>T	ENST00000306593.1	+	1	986	c.986C>T	c.(985-987)gCc>gTc	p.A329V	PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTCTCCAGCCATGGAGCAA	0.522000													9	30					0	0	0.000274275	0	0
FAT4	79633	broad.mit.edu	37	4	126336923	126336923	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr4:126336923C>T	ENST00000394329.3	+	5	6818	c.6805C>T	c.(6805-6807)Cct>Tct	p.P2269S	FAT4_ENST00000335110.5_Missense_Mutation_p.P567S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2269	Cadherin 22.				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						TGTAAATGTCCCTGAGAATTT	0.368000													14	25					0	0	0.000219431	0	0
FAT3	120114	broad.mit.edu	37	11	92523143	92523143	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr11:92523143G>A	ENST00000298047.6	+	7	4387	c.4370G>A	c.(4369-4371)gGc>gAc	p.G1457D	FAT3_ENST00000409404.2_Missense_Mutation_p.G1457D|FAT3_ENST00000525166.1_Missense_Mutation_p.G1307D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1457	Cadherin 13.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AATGATAATGGCCCAGAATTC	0.398000										TCGA Ovarian(4;0.039)			123	195					0	0	0.000781405	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515278	140515278	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr5:140515278G>A	ENST00000231134.5	+	1	479	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		88	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTTCTATATGAAAAACTAGA	0.473000													33	46					0	0	0.000409698	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84553961	84553961	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr15:84553961G>A	ENST00000286744.5	+	10	1293	c.1069G>A	c.(1069-1071)Gga>Aga	p.G357R	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G357R	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	357						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GACGTGTGGAGGAGGTGAGGC	0.428000													11	21					0	0	0.000151284	0	0
ACSBG2	81616	broad.mit.edu	37	19	6185474	6185474	+	Silent	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr19:6185474G>A	ENST00000588304.1	+	11	1646	c.1200G>A	c.(1198-1200)aaG>aaA	p.K400K	ACSBG2_ENST00000591403.1_Silent_p.K450K|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000588485.1_Silent_p.K263K|ACSBG2_ENST00000252669.5_Silent_p.K450K|ACSBG2_ENST00000586696.1_Silent_p.K450K			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	450					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGGGTGTAAGAATATGCTGT	0.517000													78	112					0	0	0.000781405	0	0
TREM1	54210	broad.mit.edu	37	6	41254361	41254361	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr6:41254361C>T	ENST00000591620.1	-	1	59	c.33G>A	c.(31-33)tgG>tgA	p.W11*	TREM1_ENST00000334475.6_Nonsense_Mutation_p.W11*|TREM1_ENST00000589614.1_Nonsense_Mutation_p.W11*|TREM1_ENST00000244709.4_Nonsense_Mutation_p.W11*	NM_001242589.1	NP_001229518.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	11					blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)	CAAAGAGCATCCACAGCAGCC	0.577000													12	49					0	0	0.000151284	0	0
FAM66D	100132923	broad.mit.edu	37	8	11985868	11985868	+	RNA	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr8:11985868C>T	ENST00000434078.2	+	0	608					NR_027425.1																						GAAAAGAGGTCCTGTGTTCTG	0.473000													6	8					0	0	8.12818e-05	0	0
IL31RA	133396	broad.mit.edu	37	5	55155392	55155392	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr5:55155392G>A	ENST00000396834.1	+	4	558	c.62G>A	c.(61-63)tGg>tAg	p.W21*	IL31RA_ENST00000490985.1_5'UTR|IL31RA_ENST00000396836.2_Nonsense_Mutation_p.W40*|IL31RA_ENST00000359040.5_Nonsense_Mutation_p.W40*|IL31RA_ENST00000354961.4_Nonsense_Mutation_p.W21*|IL31RA_ENST00000447346.2_Nonsense_Mutation_p.W40*|IL31RA_ENST00000297015.3_5'UTR	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	8					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TGGGCACTGTGGATGCTCCCC	0.473000													35	48					0	0	0.000374591	0	0
COL5A2	1290	broad.mit.edu	37	2	189957035	189957035	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr2:189957035C>T	ENST00000374866.3	-	7	842		c.e7+1			NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2						axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACACAACTCACCCTGCTCAAG	0.458000													8	4					0	0	0.000157383	0	0
DNAH7	56171	broad.mit.edu	37	2	196709789	196709789	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr2:196709789C>T	ENST00000312428.6	-	47	8982	c.8882G>A	c.(8881-8883)cGa>cAa	p.R2961Q		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2961	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATTCCAAGTTCGAATTGTCAC	0.363000													19	27					0	0	0.000375601	0	0
MAMSTR	284358	broad.mit.edu	37	19	49217244	49217244	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr19:49217244C>T	ENST00000318083.6	-	8	845	c.782G>A	c.(781-783)gGg>gAg	p.G261E	MAMSTR_ENST00000594582.1_Missense_Mutation_p.G93E|MAMSTR_ENST00000377367.3_Missense_Mutation_p.G93E|MAMSTR_ENST00000356751.4_Missense_Mutation_p.G158E|MAMSTR_ENST00000419611.1_Missense_Mutation_p.G158E			Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing transcriptional regulator	261	Pro-rich.|Transcription activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(1)|ovary(1)	2						cggagccgTCCCCGGGGTATC	0.682000													7	10					0	0	8.12818e-05	0	0
ABCA9	10350	broad.mit.edu	37	17	66981056	66981056	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr17:66981056C>T	ENST00000340001.4	-	34	4560	c.4349G>A	c.(4348-4350)gGg>gAg	p.G1450E	ABCA9_ENST00000370732.2_Intron|ABCA9_ENST00000453985.2_Missense_Mutation_p.G1412E	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1450	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GGGGTCCATCCCGGTCGACGG	0.557000													11	22					0	0	0.000219431	0	0
HIVEP3	59269	broad.mit.edu	37	1	42046221	42046221	+	Silent	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:42046221C>T	ENST00000372584.1	-	3	5262	c.4248G>A	c.(4246-4248)ttG>ttA	p.L1416L	HIVEP3_ENST00000429157.2_Silent_p.L1416L|HIVEP3_ENST00000372583.1_Silent_p.L1416L|HIVEP3_ENST00000247584.5_Silent_p.L1416L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1416					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CCTCCAGGCTCAAGATACTCT	0.493000													34	54					0	0	0.00058488	0	0
ZNF304	57343	broad.mit.edu	37	19	57867735	57867735	+	Silent	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr19:57867735C>T	ENST00000391705.3	+	4	782	c.498C>T	c.(496-498)tcC>tcT	p.S166S	ZNF304_ENST00000598744.1_Silent_p.S124S|ZNF304_ENST00000443917.2_Silent_p.S213S|ZNF304_ENST00000282286.5_Silent_p.S166S	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TAGGGAGATCCTTTACGTGCA	0.498000													10	27					0	0	0.000673444	0	0
ACSM2B	348158	broad.mit.edu	37	16	20566767	20566767	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr16:20566767C>T	ENST00000329697.6	-	4	588	c.420G>A	c.(418-420)atG>atA	p.M140I	ACSM2B_ENST00000414188.2_Missense_Mutation_p.M140I|ACSM2B_ENST00000565322.1_Missense_Mutation_p.M61I|ACSM2B_ENST00000567001.1_Missense_Mutation_p.M140I|ACSM2B_ENST00000565232.1_Missense_Mutation_p.M140I	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	140					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CAGTGGATTTCATCTGGATGG	0.428000													26	50					0	0	0.000339439	0	0
DOCK11	139818	broad.mit.edu	37	X	117805075	117805075	+	Silent	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chrX:117805075C>T	ENST00000276204.6	+	46	5240	c.5166C>T	c.(5164-5166)atC>atT	p.I1722I	DOCK11_ENST00000276202.7_Silent_p.I1722I			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1722	DHR-2.				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						CCAAGTTGATCGTTCCAATTT	0.353000													45	7					0	0	0.000781405	0	0
ADH6	130	broad.mit.edu	37	4	100137326	100137326	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr4:100137326G>A	ENST00000394897.1	-	2	194	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C	RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000237653.7_Missense_Mutation_p.R38C|ADH6_ENST00000394899.2_Missense_Mutation_p.R38C|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_5'UTR			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	38					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	ACCTTTATGCGAACTTCCTTT	0.393000													22	47					0	0	0.000375601	0	0
LSR	51599	broad.mit.edu	37	19	35741388	35741388	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr19:35741388C>T	ENST00000602122.1	+	2	911	c.424C>T	c.(424-426)Ccg>Tcg	p.P142S	LSR_ENST00000597933.1_3'UTR|LSR_ENST00000360798.3_Missense_Mutation_p.P142S|LSR_ENST00000361790.3_Missense_Mutation_p.P142S|LSR_ENST00000347609.4_Missense_Mutation_p.P105S|LSR_ENST00000427250.1_Missense_Mutation_p.P94S|LSR_ENST00000354900.3_Missense_Mutation_p.P142S			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	142	Ig-like V-type.				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TGCCTTCTCCCCGGCCAGCGT	0.632000													17	33					0	0	0.00074312	0	0
MNDA	4332	broad.mit.edu	37	1	158813902	158813902	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:158813902C>T	ENST00000368141.4	+	4	821	c.560C>T	c.(559-561)tCg>tTg	p.S187L		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	187					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TCCAACACTTCGTTTACTCCG	0.493000													35	53					0	0	0.000953801	0	0
UNC13C	440279	broad.mit.edu	37	15	54305180	54305180	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr15:54305180G>A	ENST00000545554.1	+	1	80	c.80G>A	c.(79-81)gGa>gAa	p.G27E	UNC13C_ENST00000260323.11_Missense_Mutation_p.G27E|UNC13C_ENST00000537900.1_Missense_Mutation_p.G27E			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	27					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAGAAATTGGGAAATACAAAC	0.368000													32	46					0	0	0.000692331	0	0
CDH18	1016	broad.mit.edu	37	5	19483630	19483630	+	Silent	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr5:19483630C>T	ENST00000507958.1	-	14	2652	c.1662G>A	c.(1660-1662)agG>agA	p.R554R	CDH18_ENST00000382275.1_Silent_p.R554R|CDH18_ENST00000274170.4_Silent_p.R554R|CDH18_ENST00000506372.1_Intron|CDH18_ENST00000502796.1_Intron			Q13634	CAD18_HUMAN	cadherin 18, type 2	554	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GACTAAATCTCCTCCGCCTTG	0.443000													19	26					0	0	0.000375601	0	0
FBN1	2200	broad.mit.edu	37	15	48719891	48719891	+	Silent	SNP	G	G	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr15:48719891G>T	ENST00000316623.5	-	58	7532	c.7077C>A	c.(7075-7077)acC>acA	p.T2359T		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2359	TB 9.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATTCCGATTTGGTGACGGGGT	0.547000													18	25					9.86323e-18	1.60916e-16	0.000586117	1	0
CCDC85A	114800	broad.mit.edu	37	2	56419668	56419668	+	Silent	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr2:56419668C>T	ENST00000407595.2	+	2	835	c.333C>T	c.(331-333)ttC>ttT	p.F111F	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	111										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCTGCTGTTTCCTGGATGATG	0.527000													22	33					0	0	0.000375601	0	0
LEPREL1	55214	broad.mit.edu	37	3	189681803	189681803	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr3:189681803C>T	ENST00000319332.5	-	14	2175	c.1978G>A	c.(1978-1980)Gga>Aga	p.G660R	LEPREL1_ENST00000427335.2_Missense_Mutation_p.G479R	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	660	Fe2OG dioxygenase.				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CACCTCTTTCCCTTGGTGACT	0.493000													33	32					0	0	0.00058488	0	0
C2CD2L	9854	broad.mit.edu	37	11	118984576	118984576	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr11:118984576C>T	ENST00000336702.3	+	12	1863	c.1504C>T	c.(1504-1506)Ctt>Ttt	p.L502F	C2CD2L_ENST00000528586.1_Missense_Mutation_p.L249F	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	501						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						GGACAGCCACCTTTCCAACGG	0.562000													10	19					0	0	0.000673444	0	0
TPD52L3	89882	broad.mit.edu	37	9	6328770	6328770	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr9:6328770G>A	ENST00000344545.5	+	1	422	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	TPD52L3_ENST00000381428.1_Missense_Mutation_p.E59K|TPD52L3_ENST00000314556.3_Missense_Mutation_p.E59K	NM_033516.5	NP_277051.3	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	59							protein binding			large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		ACGCTGTGGGGAACTCAAGAG	0.502000													13	6					0	0	0.00010058	0	0
TRAK1	22906	broad.mit.edu	37	3	42226209	42226209	+	Silent	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr3:42226209C>T	ENST00000327628.5	+	4	796	c.396C>T	c.(394-396)atC>atT	p.I132I	TRAK1_ENST00000449246.1_Silent_p.I58I|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Silent_p.I74I|TRAK1_ENST00000341421.3_Silent_p.I74I	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	132	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CCGCTCGCATCGGCCAGTCGT	0.507000													49	79					0	0	0.000781405	0	0
NKTR	4820	broad.mit.edu	37	3	42660522	42660522	+	Silent	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr3:42660522C>T	ENST00000232978.8	+	4	332	c.144C>T	c.(142-144)ggC>ggT	p.G48G	NKTR_ENST00000442970.1_Silent_p.G48G|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	48	PPIase cyclophilin-type.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GAGAGAAAGGCCTTGGGAAAA	0.343000													26	36					0	0	0.000720815	0	0
EVPL	2125	broad.mit.edu	37	17	74015056	74015056	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr17:74015056C>T	ENST00000301607.3	-	11	1476	c.1223G>A	c.(1222-1224)cGa>cAa	p.R408Q	EVPL_ENST00000586740.1_Missense_Mutation_p.R408Q	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	408	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGGGTTTCTTCGCTGTGGCAG	0.682000													11	16					0	0	0.000219431	0	0
ADORA2A	135	broad.mit.edu	37	22	24829686	24829686	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr22:24829686C>T	ENST00000337539.7	+	2	773	c.314C>T	c.(313-315)gCc>gTc	p.A105V	ADORA2A-AS1_ENST00000543438.1_RNA|KB-1896H10.1_ENST00000358654.2_3'UTR|ADORA2A_ENST00000496497.1_Intron|ADORA2A-AS1_ENST00000326341.4_RNA	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	105					apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CGCTACATTGCCATCCGCATC	0.632000													9	30					0	0	0.000978159	0	0
MUC5B	727897	broad.mit.edu	37	11	1272382	1272382	+	Silent	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr11:1272382C>T	ENST00000447027.1	+	31	14339	c.14281C>T	c.(14281-14283)Ctg>Ttg	p.L4761L	MUC5B_ENST00000529681.1_Silent_p.L4758L			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4758	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCCTCCACCCTGTGGACCAC	0.582000													6	26					0	0	3.59834e-05	0	0
RUNX1T1	862	broad.mit.edu	37	8	93023292	93023292	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr8:93023292G>A	ENST00000523629.1	-	5	950	c.496C>T	c.(496-498)Cat>Tat	p.H166Y	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.H129Y|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.H129Y|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.H177Y|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.H139Y|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.H166Y|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.H139Y|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.H129Y|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.H129Y	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	166	TAFH.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AGTTTGGAATGAAATTCTTCA	0.318000													62	54					0	0	0.000781405	0	0
WRAP73	49856	broad.mit.edu	37	1	3551763	3551763	+	Silent	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:3551763G>A	ENST00000378322.3	-	7	757	c.699C>T	c.(697-699)ccC>ccT	p.P233P	WRAP73_ENST00000270708.7_Silent_p.P233P			Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	233						centrosome	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						ACTGACTGCTGGGGCTCCAGG	0.602000													10	15					0	0	0.00010058	0	0
LEPREL1	55214	broad.mit.edu	37	3	189681802	189681802	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr3:189681802C>T	ENST00000319332.5	-	14	2176	c.1979G>A	c.(1978-1980)gGa>gAa	p.G660E	LEPREL1_ENST00000427335.2_Missense_Mutation_p.G479E	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	660	Fe2OG dioxygenase.				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ACACCTCTTTCCCTTGGTGAC	0.498000													34	35					0	0	0.000814825	0	0
RPP40	10799	broad.mit.edu	37	6	4996556	4996556	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr6:4996556G>A	ENST00000380051.2	-	6	702	c.658C>T	c.(658-660)Cca>Tca	p.P220S	RPP40_ENST00000464646.1_Missense_Mutation_p.P160S|RPP40_ENST00000319533.5_Missense_Mutation_p.P197S	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	220					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				TGCAGCACTGGGCACTGGAGA	0.537000													21	54					0	0	0.000132079	0	0
CYP17A1	1586	broad.mit.edu	37	10	104594763	104594763	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr10:104594763C>T	ENST00000369887.3	-	3	616	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	CYP17A1_ENST00000489268.1_5'UTR	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	149					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	GTACTGATTTCCTGACAAACT	0.517000											OREG0020487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	17					0	0	0.000566183	0	0
PLA2G3	50487	broad.mit.edu	37	22	31533863	31533863	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr22:31533863G>A	ENST00000215885.3	-	4	1151	c.899C>T	c.(898-900)cCc>cTc	p.P300L		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	300					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						TCGAGGCTTGGGAGGGGCTGG	0.657000													35	61					0	0	0.000270559	0	0
ITGAL	3683	broad.mit.edu	37	16	30510810	30510810	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr16:30510810G>A	ENST00000356798.6	+	17	2325	c.2145_splice	c.e17+1	p.P715_splice	ITGAL_ENST00000433423.2_Splice_Site_p.P111_splice|ITGAL_ENST00000358164.5_Splice_Site_p.P632_splice|RP11-297C4.1_ENST00000563751.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	715					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TTCATTTCCCGGTAAGGGAGC	0.557000													22	36					0	0	0.000229342	0	0
SH2D4A	63898	broad.mit.edu	37	8	19221586	19221586	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr8:19221586G>A	ENST00000265807.3	+	7	1121	c.710G>A	c.(709-711)cGa>cAa	p.R237Q	SH2D4A_ENST00000519207.1_Missense_Mutation_p.R237Q|SH2D4A_ENST00000518040.1_Missense_Mutation_p.R192Q	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	237						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		TTTCCAGTGCGAAAATCCAAA	0.537000													26	25					0	0	0.000184323	0	0
EEF2	1938	broad.mit.edu	37	19	3982420	3982420	+	Silent	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr19:3982420G>A	ENST00000309311.6	-	5	703	c.615C>T	c.(613-615)atC>atT	p.I205I		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	205						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACAGGATCGATCTGGAAGT	0.632000													18	26					0	0	0.000958276	0	0
LYPD4	147719	broad.mit.edu	37	19	42342212	42342212	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr19:42342212G>A	ENST00000330743.3	-	4	1546	c.335C>T	c.(334-336)tCt>tTt	p.S112F	LYPD4_ENST00000601246.1_Missense_Mutation_p.S77F|LYPD4_ENST00000343055.4_Missense_Mutation_p.S77F	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	112						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						GCAGAGATAAGACCGGCAGAC	0.527000													19	36					0	0	0.000295444	0	0
MYO9A	4649	broad.mit.edu	37	15	72191230	72191230	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr15:72191230G>A	ENST00000356056.5	-	25	4086	c.3614C>T	c.(3613-3615)gCc>gTc	p.A1205V	MYO9A_ENST00000566885.1_Missense_Mutation_p.A825V|MYO9A_ENST00000424560.1_Missense_Mutation_p.A1205V|MYO9A_ENST00000564571.1_Missense_Mutation_p.A1205V|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.A1186V	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1205	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTCCTCTATGGCTTTTATTCT	0.423000													63	88					0	0	0.000781405	0	0
DNAH2	146754	broad.mit.edu	37	17	7679380	7679380	+	Silent	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr17:7679380C>T	ENST00000572933.1	+	31	6320	c.4860C>T	c.(4858-4860)acC>acT	p.T1620T	DNAH2_ENST00000389173.2_Silent_p.T1620T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1620	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGAGGGTGACCCTGCGGGACC	0.632000													21	26					0	0	0.000295444	0	0
TENM3	55714	broad.mit.edu	37	4	183245230	183245230	+	Silent	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr4:183245230G>A	ENST00000511685.1	+	2	180	c.57G>A	c.(55-57)aaG>aaA	p.K19K	TENM3_ENST00000406950.2_Silent_p.K19K					teneurin transmembrane protein 3																		GACGAGAGAAGGAACGGCGCT	0.507000													9	26					0	0	0.000442599	0	0
TXN2	25828	broad.mit.edu	37	22	36876791	36876791	+	Silent	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr22:36876791G>A	ENST00000216185.2	-	2	560	c.94C>T	c.(94-96)Ctg>Ttg	p.L32L	TXN2_ENST00000416967.1_5'UTR|TXN2_ENST00000487725.1_5'UTR|TXN2_ENST00000403313.1_Silent_p.L32L			Q99757	THIOM_HUMAN	thioredoxin 2	32					cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity			breast(1)|lung(1)|prostate(1)	3						GGGGTCTGCAGGGCTCTGGAA	0.562000													24	36					0	0	0.000878237	0	0
GRM8	2918	broad.mit.edu	37	7	126173396	126173396	+	Silent	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr7:126173396C>T	ENST00000339582.2	-	9	2848	c.2040G>A	c.(2038-2040)ggG>ggA	p.G680G	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Silent_p.G680G|GRM8_ENST00000444921.2_Silent_p.G680G			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	680					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CAGATTTCTTCCCCTGCTCAA	0.507000										HNSCC(24;0.065)			46	29					0	0	0.000781405	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334241	37334241	+	Silent	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr22:37334241G>A	ENST00000262825.5	+	14	2626	c.2409G>A	c.(2407-2409)ggG>ggA	p.G803G	CSF2RB_ENST00000403662.3_Silent_p.G797G|CSF2RB_ENST00000406230.1_Silent_p.G803G|CSF2RB_ENST00000536485.1_Silent_p.G744G	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	797					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	TGAACCCAGGGGAACGCCCGG	0.652000													12	16					0	0	0.000422831	0	0
OR51B5	282763	broad.mit.edu	37	11	5364611	5364611	+	Silent	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr11:5364611C>T	ENST00000300773.2	-	1	198	c.144G>A	c.(142-144)aaG>aaA	p.K48K	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTGATCTTCCTTAATGAGAA	0.498000													27	38					0	0	0.000227799	0	0
SEPT3	55964	broad.mit.edu	37	22	42377818	42377818	+	Silent	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr22:42377818C>T	ENST00000396425.3	+	2	311	c.180C>T	c.(178-180)ttC>ttT	p.F60F	SEPT3_ENST00000396426.3_Silent_p.F60F|CTA-250D10.19_ENST00000424613.1_RNA|SEPT3_ENST00000291236.11_Intron|SEPT3_ENST00000406029.1_Intron|SEPT3_ENST00000328414.8_Silent_p.F60F	NM_019106.5	NP_061979.3	Q9UH03	SEPT3_HUMAN	septin 3	60					cell cycle|cytokinesis	cell junction|septin complex	GTP binding			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						AGACCGGTTTCGACTTCAACA	0.567000													4	7					0	0	0.00024832	0	0
MYLK	4638	broad.mit.edu	37	3	123457789	123457789	+	Silent	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr3:123457789G>A	ENST00000360772.3	-	8	921	c.543C>T	c.(541-543)tcC>tcT	p.S181S	MYLK_ENST00000360304.3_Silent_p.S181S|MYLK_ENST00000359169.1_Silent_p.S181S|MYLK_ENST00000475616.1_Silent_p.S181S|MYLK_ENST00000346322.5_Silent_p.S181S			Q15746	MYLK_HUMAN	myosin light chain kinase	181	Ig-like C2-type 2.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGATCTTGCAGGAGAATCGTC	0.572000													9	11					0	0	0.000274275	0	0
AARS	16	broad.mit.edu	37	16	70311047	70311047	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr16:70311047A>G	ENST00000261772.8	-	3	298	c.155T>C	c.(154-156)aTt>aCt	p.I52T		NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	52					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	GTTCAGGAAAATGGGTTTAAA	0.488000													37	42					0	0	0.000680045	0	0
PDZD4	57595	broad.mit.edu	37	X	153071017	153071017	+	Silent	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chrX:153071017G>A	ENST00000164640.4	-	6	785	c.594C>T	c.(592-594)atC>atT	p.I198I	PDZD4_ENST00000393758.2_Silent_p.I123I|PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000544474.1_Silent_p.I89I	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	198	PDZ.					cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTGGCTCAGGATGGCCACCG	0.622000													21	10					0	0	0.000720815	0	0
ABI3BP	25890	broad.mit.edu	37	3	100527030	100527030	+	Silent	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr3:100527030G>A	ENST00000471714.1	-	50	3787	c.3678C>T	c.(3676-3678)cgC>cgT	p.R1226R	ABI3BP_ENST00000383691.4_Silent_p.R503R|ABI3BP_ENST00000284322.5_Silent_p.R549R			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	549						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GGATTCTTGGGCGTGGTGATG	0.393000													11	24					0	0	0.000308642	0	0
GRID2	2895	broad.mit.edu	37	4	94316831	94316831	+	Missense_Mutation	SNP	G	G	A	rs76699542		TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr4:94316831G>A	ENST00000282020.4	+	9	1577	c.1319G>A	c.(1318-1320)gGa>gAa	p.G440E	GRID2_ENST00000510992.1_Missense_Mutation_p.G345E	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	440					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AACATGCGTGGAGTGGTTCTA	0.393000													30	54					0	0	0.000953801	0	0
PTCH2	8643	broad.mit.edu	37	1	45292179	45292179	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:45292179G>A	ENST00000447098.2	-	18	2968	c.2957C>T	c.(2956-2958)cCc>cTc	p.P986L	PTCH2_ENST00000372192.3_Missense_Mutation_p.P986L	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	986					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					AGCCGTCCAGGGGTTGAGGAG	0.632000									Basal Cell Nevus syndrome				7	10					0	0	8.12818e-05	0	0
DGKH	160851	broad.mit.edu	37	13	42763258	42763258	+	Silent	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr13:42763258C>T	ENST00000379274.2	+	15	1746	c.1317C>T	c.(1315-1317)agC>agT	p.S439S	DGKH_ENST00000540693.1_Silent_p.S575S|DGKH_ENST00000337343.4_Silent_p.S575S|DGKH_ENST00000261491.4_Silent_p.S575S|DGKH_ENST00000538674.1_Silent_p.S330S|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Silent_p.S439S			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	575	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		CTGGCCTCAGCCCTCTCATTG	0.522000													23	40					0	0	0.000295444	0	0
KRT78	196374	broad.mit.edu	37	12	53233687	53233687	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr12:53233687C>T	ENST00000359499.4	-	7	810	c.799G>A	c.(799-801)Gag>Aag	p.E267K	KRT78_ENST00000304620.4_Missense_Mutation_p.E377K			Q8N1N4	K2C78_HUMAN	keratin 78	377	Linker 12.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GCCTCCAGCTCGTCCACCTTG	0.627000													10	9					0	0	0.000442599	0	0
CHD1	1105	broad.mit.edu	37	5	98229193	98229193	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr5:98229193G>A	ENST00000284049.3	-	13	2067	c.1918C>T	c.(1918-1920)Ctt>Ttt	p.L640F		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	640	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CCAGTGATAAGGAGACGATGA	0.343000													55	83					0	0	0.000781405	0	0
PCDHA7	56141	broad.mit.edu	37	5	140216016	140216016	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr5:140216016C>T	ENST00000525929.1	+	1	2048	c.2048C>T	c.(2047-2049)tCg>tTg	p.S683L	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.S683L|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCGGGCATCGTTGGGCATT	0.632000													23	28					0	0	0.000295444	0	0
GRIN2B	2904	broad.mit.edu	37	12	13715834	13715834	+	Silent	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr12:13715834G>A	ENST00000279593.3	-	13	4547	c.4338C>T	c.(4336-4338)atC>atT	p.I1446I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1446					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCCCTATACAGATGTCCTTCT	0.562000													27	18					0	0	0.000878237	0	0
ATP8B3	148229	broad.mit.edu	37	19	1789630	1789630	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr19:1789630C>T	ENST00000539485.1	-	23	2838	c.2605G>A	c.(2605-2607)Gat>Aat	p.D869N	ATP8B3_ENST00000525591.1_Missense_Mutation_p.D822N|ATP8B3_ENST00000310127.6_Missense_Mutation_p.D859N			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	859					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		TAGAGGAAATCCCTCCTGGAC	0.692000													5	4					0	0	0.000602214	0	0
TSPAN12	23554	broad.mit.edu	37	7	120446649	120446649	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr7:120446649C>T	ENST00000222747.3	-	7	1173	c.566G>A	c.(565-567)tGt>tAt	p.C189Y	TSPAN12_ENST00000415871.1_Missense_Mutation_p.C189Y	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	189					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					CTGTTTGGAACATCCTGGGAA	0.418000													21	39					0	0	0.000375601	0	0
FMNL3	91010	broad.mit.edu	37	12	50050213	50050213	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr12:50050213G>A	ENST00000335154.5	-	9	1092	c.859C>T	c.(859-861)Ctt>Ttt	p.L287F	FMNL3_ENST00000550488.1_Missense_Mutation_p.L287F|FMNL3_ENST00000293590.5_Missense_Mutation_p.L287F|FMNL3_ENST00000352151.5_Missense_Mutation_p.L236F	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	287	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.L287F(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						AAGGCAGCAAGGATGATTTCG	0.507000													13	19					0	0	0.000219431	0	0
LAMA2	3908	broad.mit.edu	37	6	129636925	129636925	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr6:129636925A>G	ENST00000421865.2	+	26	3803	c.3754A>G	c.(3754-3756)Aaa>Gaa	p.K1252E		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1252	Laminin IV type A 2.				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)		CTATGGGGGCAAACTCAAGTA	0.388000													45	17					0	0	0.000781405	0	0
ITK	3702	broad.mit.edu	37	5	156670656	156670656	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr5:156670656G>A	ENST00000422843.3	+	12	1236	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	362					cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGACCCCTCAGAGCTCACTTT	0.498000			T	SYK	peripheral T-cell lymphoma								108	167					0	0	0.000781405	0	0
RASGRP3	25780	broad.mit.edu	37	2	33745024	33745024	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr2:33745024G>A	ENST00000403687.3	+	5	919	c.179G>A	c.(178-180)cGa>cAa	p.R60Q	RASGRP3_ENST00000402538.3_Missense_Mutation_p.R60Q|RASGRP3_ENST00000407811.1_Missense_Mutation_p.R60Q	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	60	N-terminal Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	p.R60Q(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TTTACGTATCGAAATGCCACT	0.368000													11	13					0	0	0.00010058	0	0
MYH1	4619	broad.mit.edu	37	17	10408747	10408747	+	Silent	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr17:10408747G>A	ENST00000226207.5	-	20	2350	c.2256C>T	c.(2254-2256)tcC>tcT	p.S752S	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	752	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CAATGTCAATGGACCCCAGGA	0.403000													31	41					0	0	0.000279167	0	0
MIPEP	4285	broad.mit.edu	37	13	24433031	24433031	+	Silent	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr13:24433031G>A	ENST00000382172.3	-	10	1172	c.1074C>T	c.(1072-1074)ccC>ccT	p.P358P		NM_005932.3	NP_005923.2	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	358					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		TGTAGTAAGGGGGGTCCCAGG	0.403000													17	17					0	0	0.000958276	0	0
RECQL4	9401	broad.mit.edu	37	8	145740779	145740779	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr8:145740779G>A	ENST00000428558.2	-	7	1362	c.1321C>T	c.(1321-1323)Cct>Tct	p.P441S	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	441			P -> S.		DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GGCACCTCAGGTACAGGTTGT	0.627000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				12	47					0	0	0.000151284	0	0
USH2A	7399	broad.mit.edu	37	1	215914870	215914870	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:215914870C>T	ENST00000366943.2	-	60	11944	c.11558G>A	c.(11557-11559)gGa>gAa	p.G3853E	USH2A_ENST00000307340.3_Missense_Mutation_p.G3853E			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3853	Fibronectin type-III 23.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACTGCTAACTCCACAACTTCC	0.358000										HNSCC(13;0.011)			34	68					0	0	0.00058488	0	0
SCN5A	6331	broad.mit.edu	37	3	38592525	38592525	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr3:38592525C>T	ENST00000413689.1	-	28	5531	c.5338G>A	c.(5338-5340)Gag>Aag	p.E1780K	SCN5A_ENST00000423572.2_Missense_Mutation_p.E1779K|SCN5A_ENST00000425664.1_Missense_Mutation_p.E1762K|SCN5A_ENST00000414099.2_Missense_Mutation_p.E1762K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E1747K|SCN5A_ENST00000451551.2_Missense_Mutation_p.E1726K|SCN5A_ENST00000333535.4_Missense_Mutation_p.E1780K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E1726K|SCN5A_ENST00000449557.2_Missense_Mutation_p.E1726K|SCN5A_ENST00000443581.1_Missense_Mutation_p.E1779K	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1780					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GTGCTCTCCTCCGTGGCCACG	0.507000													22	39					0	0	0.000175454	0	0
ASPM	259266	broad.mit.edu	37	1	197097757	197097757	+	Silent	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:197097757G>A	ENST00000367409.4	-	10	3055	c.2799C>T	c.(2797-2799)ttC>ttT	p.F933F	ASPM_ENST00000294732.7_Silent_p.F933F|ASPM_ENST00000367408.1_Silent_p.F183F	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	933	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CACCACTTAGGAAATCTCGTG	0.333000													14	18					0	0	0.000422831	0	0
AP3S2	10239	broad.mit.edu	37	15	90378847	90378847	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr15:90378847G>A	ENST00000336418.4	-	6	874	c.482C>T	c.(481-483)gCt>gTt	p.A161V	AP3S2_ENST00000560940.1_Intron|C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.A362V|AP3S2_ENST00000558011.1_Missense_Mutation_p.A173V|AP3S2_ENST00000560771.1_5'UTR	NM_005829.4	NP_005820.1			adaptor-related protein complex 3, sigma 2 subunit											NS(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(1)	6	Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			AGCAGACACAGCCCGCGCAGG	0.448000													29	62					0	0	0.000227799	0	0
NDRG2	57447	broad.mit.edu	37	14	21486621	21486621	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr14:21486621G>A	ENST00000556147.1	-	13	1796	c.856C>T	c.(856-858)Ctc>Ttc	p.L286F	NDRG2_ENST00000397847.2_Missense_Mutation_p.L275F|NDRG2_ENST00000397851.2_Missense_Mutation_p.L286F|NDRG2_ENST00000298684.5_Missense_Mutation_p.L243F|NDRG2_ENST00000397853.3_Missense_Mutation_p.L286F|NDRG2_ENST00000350792.3_Missense_Mutation_p.L272F|NDRG2_ENST00000397844.2_Intron|NDRG2_ENST00000555158.1_Missense_Mutation_p.L272F|NDRG2_ENST00000298687.5_Missense_Mutation_p.L286F|NDRG2_ENST00000397858.1_Missense_Mutation_p.L286F|NDRG2_ENST00000553503.1_Missense_Mutation_p.L272F|NDRG2_ENST00000554143.1_Missense_Mutation_p.L272F|NDRG2_ENST00000360463.3_Missense_Mutation_p.L272F|NDRG2_ENST00000397855.3_Missense_Mutation_p.L243F|NDRG2_ENST00000403829.3_Missense_Mutation_p.L282F|NDRG2_ENST00000397856.3_Intron|NDRG2_ENST00000554104.1_Missense_Mutation_p.L199F			Q9UN36	NDRG2_HUMAN	NDRG family member 2	286					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CTGACCTTGAGGAACGAGGTC	0.582000													9	13					0	0	0.000274275	0	0
EPRS	2058	broad.mit.edu	37	1	220153506	220153506	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:220153506G>A	ENST00000366923.3	-	26	3901	c.3632C>T	c.(3631-3633)aCg>aTg	p.T1211M		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1211	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TTCCTTTTCCGTCTTTCTTCC	0.373000													56	72					0	0	0.000781405	0	0
HSD17B1	3292	broad.mit.edu	37	17	40705284	40705284	+	Silent	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr17:40705284G>A	ENST00000585807.1	+	2	3960	c.240G>A	c.(238-240)gtG>gtA	p.V80V	RP11-400F19.8_ENST00000585572.1_RNA|RP11-400F19.6_ENST00000590513.1_RNA|HSD17B1_ENST00000225929.5_Silent_p.V80V	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	80					estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	NADH(DB00157)	GGGAACGCGTGACTGAGGGCC	0.667000													13	23					0	0	0.000566183	0	0
ISLR2	57611	broad.mit.edu	37	15	74425238	74425238	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr15:74425238G>A	ENST00000361742.3	+	4	912	c.143G>A	c.(142-144)gGa>gAa	p.G48E	ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000435464.1_Missense_Mutation_p.G48E|ISLR2_ENST00000453268.2_Missense_Mutation_p.G48E|ISLR2_ENST00000565159.1_Missense_Mutation_p.G48E|ISLR2_ENST00000419208.1_Missense_Mutation_p.G48E|ISLR2_ENST00000565540.1_Missense_Mutation_p.G48E|ISLR2_ENST00000445793.1_Missense_Mutation_p.G48E	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	48	LRRNT.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GTGCCGGAAGGACTGCCTGCC	0.642000													12	29					0	0	0.000151284	0	0
PTPRN2	5799	broad.mit.edu	37	7	157959833	157959833	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr7:157959833C>T	ENST00000389413.3	-	6	803	c.700G>A	c.(700-702)Gac>Aac	p.D234N	PTPRN2_ENST00000404321.2_Missense_Mutation_p.D257N|PTPRN2_ENST00000389416.4_Missense_Mutation_p.D217N|PTPRN2_ENST00000389418.4_Missense_Mutation_p.D234N|PTPRN2_ENST00000409483.1_Missense_Mutation_p.D196N	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	234						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		ACACCACTGTCCACCTTAGGG	0.692000													26	10					0	0	0.000184323	0	0
HYDIN	54768	broad.mit.edu	37	16	70843823	70843823	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr16:70843823G>A	ENST00000393567.2	-	85	14896	c.14746C>T	c.(14746-14748)Caa>Taa	p.Q4916*		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4916								p.Y4914>?(1)|p.Y4866>?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGCTCATATTGGTAGTAACCC	0.468000													152	280					0	0	0.000781405	0	0
WDR72	256764	broad.mit.edu	37	15	53889401	53889401	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr15:53889401G>A	ENST00000396328.1	-	18	3262	c.3023C>T	c.(3022-3024)cCc>cTc	p.P1008L	WDR72_ENST00000360509.5_Missense_Mutation_p.P1008L|WDR72_ENST00000557913.1_Missense_Mutation_p.P1005L|WDR72_ENST00000559418.1_Missense_Mutation_p.P1018L	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1008										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		ACTATTGACGGGTATCTTTCC	0.408000													57	97					0	0	0.000781405	0	0
TBX4	9496	broad.mit.edu	37	17	59560724	59560724	+	Silent	SNP	C	C	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr17:59560724C>A	ENST00000393853.4	+	9	1651	c.1488C>A	c.(1486-1488)cgC>cgA	p.R496R	TBX4_ENST00000240335.1_Silent_p.R495R|TBX4_ENST00000589449.1_3'UTR			P57082	TBX4_HUMAN	T-box 4	495					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CAAGAGAGCGCGGCCTCCCCC	0.572000													5	29					0.000602214	0.00958177	0.000602214	1	0
FBN1	2200	broad.mit.edu	37	15	48719895	48719895	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr15:48719895A>C	ENST00000316623.5	-	58	7528	c.7073T>G	c.(7072-7074)gTc>gGc	p.V2358G		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2358	TB 9.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CGATTTGGTGACGGGGTTCCT	0.542000													21	26					0	0	0.000878237	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				53	36					0	0	0.000781405	0	0
MGAM	8972	broad.mit.edu	37	7	141719069	141719069	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr7:141719069C>T	ENST00000475668.2	+	4	452	c.398C>T	c.(397-399)tCc>tTc	p.S133F	MGAM_ENST00000549489.2_Missense_Mutation_p.S133F			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	133	P-type 1.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGCTACTATTCCAAGAATCAT	0.512000													56	27					0	0	0.000781405	0	0
ZNF883	169834	broad.mit.edu	37	9	115759834	115759834	+	RNA	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr9:115759834G>A	ENST00000427548.1	-	0	1979							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										CACTCATAGGGTTTTTCTCCA	0.423000													20	7					0	0	0.000132079	0	0
PCLO	27445	broad.mit.edu	37	7	82545193	82545193	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr7:82545193C>T	ENST00000423517.2	-	7	12446	c.12109G>A	c.(12109-12111)Gat>Aat	p.D4037N	PCLO_ENST00000437081.1_Missense_Mutation_p.D757N|PCLO_ENST00000333891.8_Missense_Mutation_p.D4037N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3968					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGATCAATATCTGCATAGAAA	0.398000													15	74					0	0	0.000422831	0	0
PLA2G3	50487	broad.mit.edu	37	22	31533864	31533864	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr22:31533864G>A	ENST00000215885.3	-	4	1150	c.898C>T	c.(898-900)Ccc>Tcc	p.P300S		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	300					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CGAGGCTTGGGAGGGGCTGGG	0.657000													35	59					0	0	0.000228196	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432780	140432780	+	Silent	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr5:140432780C>T	ENST00000306549.3	+	1	1802	c.1725C>T	c.(1723-1725)gaC>gaT	p.D575D		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		575					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGCAATGACCTGGTGCCCA	0.493000													9	47					0	0	0.000274275	0	0
UBR1	197131	broad.mit.edu	37	15	43340622	43340622	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr15:43340622G>A	ENST00000290650.4	-	13	1585	c.1507C>T	c.(1507-1509)Cga>Tga	p.R503*	UBR1_ENST00000382177.2_Nonsense_Mutation_p.R503*	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	503					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AAAAAAGATCGAAAACCTTCA	0.303000													21	29					0	0	0.000295444	0	0
TENM1	10178	broad.mit.edu	37	X	123518420	123518420	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chrX:123518420C>T	ENST00000422452.2	-	30	6424	c.6361G>A	c.(6361-6363)Gaa>Aaa	p.E2121K	TENM1_ENST00000371130.3_Missense_Mutation_p.E2114K|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TTTAGGATTTCATATTGGACT	0.373000													50	12					0	0	0.000781405	0	0
DSP	1832	broad.mit.edu	37	6	7583574	7583574	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr6:7583574G>A	ENST00000379802.3	+	24	6420	c.6079G>A	c.(6079-6081)Gaa>Aaa	p.E2027K	DSP_ENST00000418664.2_Missense_Mutation_p.E1428K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2027	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTCTCCTAAGGAAAAATACTC	0.468000													44	33					0	0	0.000589545	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834771	125834771	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr12:125834771G>A	ENST00000299308.3	+	2	834	c.826G>A	c.(826-828)Gtg>Atg	p.V276M		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	276						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTGGTCCCTGGTGAGCTTGGA	0.582000													59	93					0	0	0.000781405	0	0
KLHL36	79786	broad.mit.edu	37	16	84695527	84695527	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr16:84695527C>T	ENST00000564996.1	+	5	1780	c.1639C>T	c.(1639-1641)Cgc>Tgc	p.R547C	KLHL36_ENST00000258157.5_Missense_Mutation_p.R484C	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	547										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GTGGGAGGGCCGCATCTACAT	0.682000													5	6					0	0	0.000602214	0	0
RASGRP2	10235	broad.mit.edu	37	11	64507588	64507588	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr11:64507588C>T	ENST00000377494.1	-	5	1341	c.419G>A	c.(418-420)gGa>gAa	p.G140E	RASGRP2_ENST00000377497.3_Missense_Mutation_p.G140E|RASGRP2_ENST00000354024.3_Missense_Mutation_p.G140E|RASGRP2_ENST00000394432.3_Missense_Mutation_p.G140E			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	140					platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTTTTTCTGTCCCACAGGGTT	0.587000													21	45					0	0	0.000229342	0	0
OR4C3	256144	broad.mit.edu	37	11	48347393	48347393	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr11:48347393G>A	ENST00000319856.4	+	1	922	c.901G>A	c.(901-903)Ggt>Agt	p.G301S		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						ATTATTTTATGGTATTCTGAC	0.348000													33	67					0	0	0.000692331	0	0
OR2L2	26246	broad.mit.edu	37	1	248202216	248202216	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:248202216C>T	ENST00000366479.2	+	1	743	c.647C>T	c.(646-648)tCc>tTc	p.S216F	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATTGCATGTTCCTATGGCCGG	0.507000													44	85					0	0	0.000589545	0	0
OR2W3	343171	broad.mit.edu	37	1	248059074	248059074	+	Silent	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:248059074C>T	ENST00000537741.1	+	3	443	c.186C>T	c.(184-186)ttC>ttT	p.F62F	OR2W3_ENST00000360358.3_Silent_p.F62F			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGTACTTCTTCCTCGCCCACC	0.572000													36	61					0	0	0.00111076	0	0
CRNN	49860	broad.mit.edu	37	1	152382958	152382958	+	Silent	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:152382958C>T	ENST00000271835.3	-	3	662	c.600G>A	c.(598-600)agG>agA	p.R200R	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	200	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTCTGATTCCTCTTGCCTT	0.542000													77	126					0	0	0.000781405	0	0
PRR14	78994	broad.mit.edu	37	16	30666249	30666249	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr16:30666249C>T	ENST00000542965.2	+	7	1414	c.958C>T	c.(958-960)Cca>Tca	p.P320S	PRR14_ENST00000571654.1_3'UTR|PRR14_ENST00000300835.4_Missense_Mutation_p.P320S			Q9BWN1	PRR14_HUMAN	proline rich 14	320	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CCACAATACCCCAGCACTTCT	0.672000													8	25					0	0	0.000442599	0	0
GABRB1	2560	broad.mit.edu	37	4	47163300	47163300	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr4:47163300G>A	ENST00000295454.3	+	4	567	c.275G>A	c.(274-276)tGg>tAg	p.W92*	GABRB1_ENST00000538619.1_Nonsense_Mutation_p.W22*	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	92					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CAGCAGTCTTGGAAAGACAAA	0.358000													31	64					0	0	0.000339439	0	0
OR8B2	26595	broad.mit.edu	37	11	124253109	124253109	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr11:124253109C>T	ENST00000375013.2	-	1	149	c.131G>A	c.(130-132)gGc>gAc	p.G44D		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AGTGATCAAGCCAAGGTTGCC	0.418000													45	58					0	0	0.000781405	0	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs60608267	by1000genomes	TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000389562.2_Silent_p.Q2726Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567000													4	46					0	0	0.00024832	0	0
PEG3	5178	broad.mit.edu	37	19	57328917	57328917	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr19:57328917G>A	ENST00000326441.9	-	10	1256	c.893C>T	c.(892-894)tCa>tTa	p.S298L	PEG3_ENST00000598410.1_Missense_Mutation_p.S174L|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.S172L|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.S298L	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	298					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCGGTGGGTTGATTTTTTGGC	0.468000													40	61					0	0	0.000781405	0	0
C6	729	broad.mit.edu	37	5	41160404	41160404	+	Silent	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr5:41160404C>T	ENST00000263413.3	-	11	1788	c.1524G>A	c.(1522-1524)agG>agA	p.R508R	C6_ENST00000337836.5_Silent_p.R508R|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	508	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.R508S(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GCAAAGCTTTCCTGAGGTTGT	0.522000													30	54					0	0	0.000339439	0	0
MTSS1	9788	broad.mit.edu	37	8	125570989	125570989	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr8:125570989C>T	ENST00000378017.3	-	11	1182	c.1120G>A	c.(1120-1122)Ggc>Agc	p.G374S	MTSS1_ENST00000524090.1_Intron|MTSS1_ENST00000518547.1_Intron|MTSS1_ENST00000325064.5_Intron|MTSS1_ENST00000354184.4_Intron|MTSS1_ENST00000523587.1_Intron|MTSS1_ENST00000431961.2_Intron|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000395508.2_Missense_Mutation_p.G108S			O43312	MTSS1_HUMAN	metastasis suppressor 1	399					actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ATGGTGGAGCCCGAGCTGACA	0.682000													4	6					0	0	0.000602214	0	0
ZNF620	253639	broad.mit.edu	37	3	40553021	40553021	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr3:40553021G>A	ENST00000314529.6	+	3	234	c.85G>A	c.(85-87)Gac>Aac	p.D29N	ZNF620_ENST00000418905.1_Intron	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	29	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GGCCAGCCTGGACTCTGTGCA	0.507000													32	47					0	0	0.00058488	0	0
TTN	7273	broad.mit.edu	37	2	179422801	179422801	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr2:179422801C>T	ENST00000589042.1	-	328	87504	c.87280G>A	c.(87280-87282)Gaa>Aaa	p.E29094K	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E20029K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E20221K|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E27453K|TTN_ENST00000342992.6_Missense_Mutation_p.E26526K|TTN_ENST00000359218.5_Missense_Mutation_p.E20154K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27453	Fibronectin type-III 112.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAGTAATTTCGGTATTAAAT	0.428000													31	88					0	0	0.000339439	0	0
KCNJ10	3766	broad.mit.edu	37	1	160011861	160011861	+	Silent	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:160011861G>A	ENST00000368089.3	-	2	688	c.462C>T	c.(460-462)acC>acT	p.T154T	KCNJ10_ENST00000509700.1_5'UTR	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	154						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCAGGATGGTGGTGAGCACCA	0.537000													41	43					0	0	0.000589545	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141231633	141231633	+	Silent	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr8:141231633G>A	ENST00000389328.4	-	17	2789	c.2775C>T	c.(2773-2775)gtC>gtT	p.V925V	TRAPPC9_ENST00000389327.3_Silent_p.V818V|TRAPPC9_ENST00000438773.2_Silent_p.V827V	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	827					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GGGGCCGAACGACCTGCCGAA	0.522000													25	16					0	0	0.000586117	0	0
ZFR2	23217	broad.mit.edu	37	19	3834900	3834900	+	Silent	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr19:3834900C>T	ENST00000262961.4	-	2	145	c.135G>A	c.(133-135)gtG>gtA	p.V45V	ZFR2_ENST00000591965.1_5'UTR	NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	45						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		AGGCCGGGTTCACGGCAGGGT	0.677000													4	6					0	0	0.00024832	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269283	150269283	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr7:150269283G>A	ENST00000255945.2	+	3	300	c.125G>A	c.(124-126)gGa>gAa	p.G42E	GIMAP4_ENST00000461940.1_Missense_Mutation_p.G56E|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	42							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCGGAGCAGGAAAAAGTGCA	0.463000													11	49					0	0	0.000151284	0	0
EXOC6B	23233	broad.mit.edu	37	2	72802710	72802710	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr2:72802710T>A	ENST00000272427.6	-	7	887	c.757A>T	c.(757-759)Atc>Ttc	p.I253F	EXOC6B_ENST00000410104.1_Missense_Mutation_p.I253F	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	253					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						GTATCAAAGATTATATATGCA	0.398000													38	52					0	0	0.000953801	0	0
LEFTY1	10637	broad.mit.edu	37	1	226074761	226074761	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:226074761G>A	ENST00000272134.5	-	4	846	c.767C>T	c.(766-768)cCa>cTa	p.P256L	RP4-559A3.7_ENST00000432920.2_3'UTR	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	256					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					CTCGGTCATTGGTGCTTCAGG	0.647000													9	8					0	0	0.000274275	0	0
OR4C15	81309	broad.mit.edu	37	11	55321940	55321940	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr11:55321940G>A	ENST00000314644.2	+	1	158	c.158G>A	c.(157-159)gGa>gAa	p.G53E		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TTTTCCTTGGGAAACATGCAA	0.358000										HNSCC(20;0.049)			54	83					0	0	0.000781405	0	0
OR2M2	391194	broad.mit.edu	37	1	248343804	248343804	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:248343804G>A	ENST00000359682.2	+	1	517	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGGGTCTCGGGAAATAGCCCA	0.418000													67	140					0	0	0.000781405	0	0
SALL1	6299	broad.mit.edu	37	16	51174059	51174059	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr16:51174059G>A	ENST00000440970.1	-	2	2214	c.1783C>T	c.(1783-1785)Cag>Tag	p.Q595*	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Nonsense_Mutation_p.Q692*	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	692					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACCAGTTGCTGAAGCTTGGAC	0.532000													46	71					0	0	0.000781405	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18800921	18800921	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr12:18800921G>A	ENST00000433979.1	+	32	4413	c.4297G>A	c.(4297-4299)Gat>Aat	p.D1433N	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.D1433N|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.D1474N	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1433					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TGTCCCACTCGATAAAGAAAA	0.358000													14	18					0	0	0.000219431	0	0
IGLV4-3	28786	broad.mit.edu	37	22	23214075	23214075	+	RNA	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr22:23214075G>A	ENST00000390318.2	+	0	264																											CCACAGCAAGGGGGACGGGAT	0.557000													24	63					0	0	0.000586117	0	0
PSG2	5670	broad.mit.edu	37	19	43576013	43576013	+	Missense_Mutation	SNP	G	G	A	rs149747966		TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr19:43576013G>A	ENST00000406487.1	-	4	901	c.803C>T	c.(802-804)cCg>cTg	p.P268L		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	268	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				ATACTGTGCCGGTGGGTTAGA	0.458000													55	18					0	0	0.000781405	0	0
TIE1	7075	broad.mit.edu	37	1	43777681	43777681	+	Silent	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:43777681C>T	ENST00000372476.3	+	11	1588	c.1509C>T	c.(1507-1509)aaC>aaT	p.N503N	TIE1_ENST00000433781.2_Silent_p.N148N	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	503	Fibronectin type-III 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCAGTGAGAACGTGACGTTAA	0.607000													11	37					0	0	0.000219431	0	0
NLRP7	199713	broad.mit.edu	37	19	55449588	55449588	+	Silent	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr19:55449588C>T	ENST00000446217.1	-	7	2439	c.2037G>A	c.(2035-2037)ccG>ccA	p.P679P	NLRP7_ENST00000340844.2_Silent_p.P651P|NLRP7_ENST00000590030.1_Silent_p.P651P|NLRP7_ENST00000592784.1_Silent_p.P651P|NLRP7_ENST00000328092.5_Intron|NLRP7_ENST00000448121.2_Intron|NLRP7_ENST00000588756.1_Silent_p.P651P			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	651							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)		GAGCCCAGTTCGGAATGGTTA	0.488000													16	46					0	0	0.00074312	0	0
ZNF331	55422	broad.mit.edu	37	19	54080114	54080114	+	Silent	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr19:54080114C>T	ENST00000253144.9	+	7	1633	c.300C>T	c.(298-300)gtC>gtT	p.V100V	ZNF331_ENST00000449416.1_Silent_p.V100V|ZNF331_ENST00000411977.2_Silent_p.V100V|ZNF331_ENST00000512387.1_Silent_p.V100V|ZNF331_ENST00000511154.1_Silent_p.V100V|ZNF331_ENST00000511593.2_Silent_p.V100V|ZNF331_ENST00000513999.1_Silent_p.V100V|ZNF331_ENST00000513265.1_Intron	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		GGAGGTATGTCAATCAGATGA	0.428000			T	?	follicular thyroid adenoma								39	61					0	0	0.000509022	0	0
NAA35	60560	broad.mit.edu	37	9	88577022	88577022	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr9:88577022C>T	ENST00000361671.5	+	6	576	c.443C>T	c.(442-444)gCt>gTt	p.A148V	NAA35_ENST00000376040.1_Missense_Mutation_p.A148V	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	148					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						GCTATGAAGGCTTTTGCTCTG	0.368000													20	15					0	0	0.000175454	0	0
TTN	7273	broad.mit.edu	37	2	179485585	179485585	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr2:179485585G>A	ENST00000589042.1	-	247	45976	c.45752C>T	c.(45751-45753)tCa>tTa	p.S15251L	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S6186L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S6378L|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S13610L|TTN_ENST00000342992.6_Missense_Mutation_p.S12683L|TTN_ENST00000359218.5_Missense_Mutation_p.S6311L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13610	Fibronectin type-III 11.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGTATTTTGAACTATCAAA	0.393000													62	66					0	0	0.000781405	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711066	140711066	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr5:140711066G>A	ENST00000517417.1	+	1	815	c.815G>A	c.(814-816)gGa>gAa	p.G272E	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.G272E	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGATGAGGGAGCCAATGGG	0.448000													14	25					0	0	0.000308642	0	0
CORIN	10699	broad.mit.edu	37	4	47746434	47746434	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr4:47746434C>T	ENST00000273857.4	-	5	783	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	CORIN_ENST00000504584.1_Missense_Mutation_p.E262K|CORIN_ENST00000508498.1_Missense_Mutation_p.E123K|CORIN_ENST00000505909.1_Missense_Mutation_p.E262K|CORIN_ENST00000502252.1_Missense_Mutation_p.E195K	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	262					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TTTCCGTTTTCCTGCTGAGGT	0.378000													52	69					0	0	0.000781405	0	0
CDR1	1038	broad.mit.edu	37	X	139866084	139866084	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chrX:139866084T>A	ENST00000370532.2	-	1	639	c.448A>T	c.(448-450)Aga>Tga	p.R150*		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	150	6 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				AATCTACGTCTTCCAAAAAAG	0.438000													89	27					0	0	0.000781405	0	0
ABCC3	8714	broad.mit.edu	37	17	48734526	48734526	+	Silent	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr17:48734526C>T	ENST00000285238.8	+	4	548	c.468C>T	c.(466-468)atC>atT	p.I156I	ABCC3_ENST00000427699.1_Silent_p.I156I	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	156					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GCTCCAAGATCCTTTTAGCCA	0.567000													31	44					0	0	0.00058488	0	0
HECW2	57520	broad.mit.edu	37	2	197208396	197208396	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr2:197208396G>A	ENST00000260983.2	-	3	567	c.385C>T	c.(385-387)Ccc>Tcc	p.P129S	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	129					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ATGAAATAGGGCCCAGGCTCA	0.363000													94	116					0	0	0.000781405	0	0
LINGO2	158038	broad.mit.edu	37	9	27950117	27950117	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr9:27950117C>T	ENST00000379992.2	-	6	1002	c.553G>A	c.(553-555)Gag>Aag	p.E185K	LINGO2_ENST00000308675.3_Missense_Mutation_p.E185K	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	185						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TTGCATTTCTCCAGGGTGAGC	0.473000													18	13					0	0	0.00074312	0	0
ZNRF1	84937	broad.mit.edu	37	16	75140409	75140409	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr16:75140409G>T	ENST00000335325.4	+	4	1298	c.656G>T	c.(655-657)aGa>aTa	p.R219I	ZNRF1_ENST00000564320.1_3'UTR|ZNRF1_ENST00000320619.6_Missense_Mutation_p.R270I|ZNRF1_ENST00000567962.1_Missense_Mutation_p.R219I	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase	219						cell junction|endosome|lysosome|synaptic vesicle membrane	ligase activity|protein binding|zinc ion binding			breast(1)	1						GAAGTGAACAGATCTTGTCCG	0.602000													16	27					2.94398e-08	4.75475e-07	0.000958276	1	0
NOL11	25926	broad.mit.edu	37	17	65735061	65735061	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr17:65735061C>T	ENST00000253247.4	+	15	1892	c.1777C>T	c.(1777-1779)Cat>Tat	p.H593Y	NOL11_ENST00000535137.1_Missense_Mutation_p.H411Y	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	593						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGCAATTCTTCATTCAGCATA	0.338000													38	70					0	0	0.000437636	0	0
FHL1	2273	broad.mit.edu	37	X	135289972	135289972	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chrX:135289972A>T	ENST00000543669.1	+	4	1064	c.353A>T	c.(352-354)aAg>aTg	p.K118M	FHL1_ENST00000345434.3_Missense_Mutation_p.K118M|FHL1_ENST00000539015.1_Missense_Mutation_p.K147M|FHL1_ENST00000535737.1_Missense_Mutation_p.K118M|FHL1_ENST00000370676.3_Missense_Mutation_p.K134M|FHL1_ENST00000370683.1_Missense_Mutation_p.K134M|FHL1_ENST00000394153.2_Missense_Mutation_p.K118M|FHL1_ENST00000394155.2_Missense_Mutation_p.K118M|FHL1_ENST00000370690.3_Missense_Mutation_p.K118M	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	118	LIM zinc-binding 2.				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GTGGAGTACAAGGGGACCGTC	0.567000													4	10					0	0	0.00024832	0	0
RYR1	6261	broad.mit.edu	37	19	38985160	38985160	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr19:38985160C>T	ENST00000355481.4	+	39	6574	c.6443C>T	c.(6442-6444)tCc>tTc	p.S2148F	RYR1_ENST00000359596.3_Missense_Mutation_p.S2148F|RYR1_ENST00000360985.3_Missense_Mutation_p.S2148F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2148	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCACCGTCCTCCGTGGAAGAC	0.662000													15	16					0	0	0.000219431	0	0
HRNR	388697	broad.mit.edu	37	1	152192762	152192762	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:152192762C>T	ENST00000368801.2	-	3	1418	c.1343G>A	c.(1342-1344)cGa>cAa	p.R448Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	448					keratinization		calcium ion binding|protein binding	p.R448Q(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGGAAGATCGACCAAAGCC	0.582000													23	42					0	0	0.00047179	0	0
NIN	51199	broad.mit.edu	37	14	51224286	51224286	+	Silent	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr14:51224286G>A	ENST00000245441.5	-	18	3652	c.3462C>T	c.(3460-3462)gaC>gaT	p.D1154D	NIN_ENST00000453196.1_Silent_p.D1154D|NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Silent_p.D1154D|NIN_ENST00000382043.4_Intron|NIN_ENST00000530997.2_Silent_p.D1154D|NIN_ENST00000382041.3_Silent_p.D1154D	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1154					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TACTTCCCAGGTCCCGGACCT	0.478000			T	PDGFRB	MPD								20	55					0	0	0.000229342	0	0
CT45A5	441521	broad.mit.edu	37	X	134947909	134947909	+	Missense_Mutation	SNP	C	C	T	rs143395460	byFrequency	TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chrX:134947909C>T	ENST00000370724.3	-	3	660	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	CT45A4_ENST00000420087.2_Intron|CT45A5_ENST00000491480.1_Missense_Mutation_p.R139Q	NM_001007551.3|NM_001172288.1	NP_001007552.1|NP_001165759.1	Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5	139								p.R139Q(2)		endometrium(1)|large_intestine(2)|lung(6)	9						CTACTTACTTCGTCCAAGGCA	0.388000													53	17					0	0	0.000781405	0	0
SETD2	29072	broad.mit.edu	37	3	47155463	47155463	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr3:47155463A>G	ENST00000409792.3	-	5	4660	c.4618T>C	c.(4618-4620)Tcc>Ccc	p.S1540P		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1540	AWS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CGTCTATTGGAACAATAATCC	0.393000			"""N, F, S, Mis"""		clear cell renal carcinoma								20	66					0	0	0.000375601	0	0
PRR14	78994	broad.mit.edu	37	16	30666248	30666248	+	Silent	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr16:30666248C>T	ENST00000542965.2	+	7	1413	c.957C>T	c.(955-957)acC>acT	p.T319T	PRR14_ENST00000571654.1_3'UTR|PRR14_ENST00000300835.4_Silent_p.T319T			Q9BWN1	PRR14_HUMAN	proline rich 14	319	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			ACCACAATACCCCAGCACTTC	0.672000													9	23					0	0	0.000978159	0	0
DOCK4	9732	broad.mit.edu	37	7	111381658	111381658	+	Silent	SNP	C	C	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr7:111381658C>A	ENST00000428084.1	-	46	5129	c.4857G>T	c.(4855-4857)gtG>gtT	p.V1619V	DOCK4_ENST00000437633.1_Silent_p.V1610V|DOCK4_ENST00000494651.2_Silent_p.V493V			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1610	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AGTTTCTACACACACGAGGGC	0.423000													18	6					7.07596e-05	0.00113145	0.00074312	1	0
ANK1	286	broad.mit.edu	37	8	41550337	41550337	+	Silent	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr8:41550337C>T	ENST00000396942.1	-	31	3770	c.3687G>A	c.(3685-3687)ctG>ctA	p.L1229L	ANK1_ENST00000289734.7_Silent_p.L1229L|ANK1_ENST00000379758.2_Silent_p.L1229L|ANK1_ENST00000352337.4_Silent_p.L1229L|ANK1_ENST00000396945.1_Silent_p.L1229L|ANK1_ENST00000265709.8_Silent_p.L1270L|ANK1_ENST00000347528.4_Silent_p.L1229L			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1229					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)			GCTCTTTGTACAGCAGGGTGG	0.542000													62	138					0	0	0.000781405	0	0
FCRLA	84824	broad.mit.edu	37	1	161677088	161677088	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:161677088C>T	ENST00000367959.2	+	1	327	c.85C>T	c.(85-87)Ctc>Ttc	p.L29F	FCRLA_ENST00000350710.3_Missense_Mutation_p.L29F|FCRLA_ENST00000236938.6_Missense_Mutation_p.L29F|FCRLA_ENST00000367957.2_Missense_Mutation_p.L29F|FCRLA_ENST00000367950.1_5'UTR|FCRLA_ENST00000367949.2_Missense_Mutation_p.L29F|FCRLA_ENST00000546024.1_Missense_Mutation_p.L29F|FCRLA_ENST00000540926.1_Missense_Mutation_p.L12F|FCRLA_ENST00000294796.4_Missense_Mutation_p.L12F|FCRLA_ENST00000367953.3_Missense_Mutation_p.L12F|FCRLA_ENST00000540521.1_Missense_Mutation_p.L29F|FCRLA_ENST00000309691.6_Missense_Mutation_p.L12F|FCRLA_ENST00000349527.4_Missense_Mutation_p.L12F	NM_001184866.1	NP_001171795.1	Q7L513	FCRLA_HUMAN	Fc receptor-like A	12					cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GGCCTGGGCCCTCTACCTTTC	0.488000													12	20					0	0	0.00010058	0	0
CRYZ	1429	broad.mit.edu	37	1	75172593	75172593	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:75172593G>A	ENST00000417775.1	-	9	1322	c.818C>T	c.(817-819)tCc>tTc	p.S273F	CRYZ_ENST00000370872.3_Missense_Mutation_p.S136F|CRYZ_ENST00000340866.5_Missense_Mutation_p.S273F|CRYZ_ENST00000492102.1_5'UTR|CRYZ_ENST00000370871.3_Missense_Mutation_p.S239F	NM_001130042.1	NP_001123514.1	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	273					protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicumarol(DB00266)	CTTGGTTGAGGAAAAGAGAGT	0.383000													71	99					0	0	0.000781405	0	0
AAMP	14	broad.mit.edu	37	2	219131205	219131205	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr2:219131205G>A	ENST00000248450.4	-	5	810	c.640C>T	c.(640-642)Ccc>Tcc	p.P214S	AAMP_ENST00000420660.1_Missense_Mutation_p.P195S|AAMP_ENST00000444053.1_Missense_Mutation_p.P215S			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	214					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGCAGTTGGGACCCTGGAAG	0.612000													8	10					0	0	0.000157383	0	0
VIL1	7429	broad.mit.edu	37	2	219299365	219299365	+	Silent	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr2:219299365C>T	ENST00000248444.5	+	14	1705	c.1617C>T	c.(1615-1617)ttC>ttT	p.F539F	VIL1_ENST00000392114.2_Silent_p.F228F	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	539	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGCCAATTTCCTCAATTCCA	0.562000													15	34					0	0	0.000308642	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444060	5444060	+	Silent	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr11:5444060C>T	ENST00000300778.4	+	1	720	c.630C>T	c.(628-630)atC>atT	p.I210I	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATTATTATCGTGGATCCTC	0.502000													48	70					0	0	0.000781405	0	0
STAB2	55576	broad.mit.edu	37	12	104078786	104078786	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr12:104078786C>T	ENST00000388887.2	+	27	3125	c.2921C>T	c.(2920-2922)tCg>tTg	p.S974L		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	974	EGF-like 10.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAATCTACTTCGTCTGGTGTC	0.453000													71	106					0	0	0.000781405	0	0
DSC3	1825	broad.mit.edu	37	18	28604330	28604330	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr18:28604330C>T	ENST00000434452.1	-	6	914	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	DSC3_ENST00000360428.4_Missense_Mutation_p.E254K	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	254	Cadherin 2.				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)			CTACTACTTTCCAAAACTTCA	0.348000													16	36					0	0	0.000132079	0	0
NLRP5	126206	broad.mit.edu	37	19	56539052	56539052	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr19:56539052G>A	ENST00000390649.3	+	7	1453	c.1453G>A	c.(1453-1455)Gac>Aac	p.D485N		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	485	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCAGCTGCAGGACGTGGTGGG	0.647000													7	27					0	0	8.12818e-05	0	0
GLIS3	169792	broad.mit.edu	37	9	3879532	3879532	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr9:3879532G>T	ENST00000324333.10	-	7	1920	c.1727C>A	c.(1726-1728)cCa>cAa	p.P576Q	GLIS3_ENST00000381971.3_Missense_Mutation_p.P731Q|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	576					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GACAGGATGTGGGGGTGGTAC	0.557000													25	9					9.39395e-14	1.52486e-12	0.00106085	1	0
OR51A7	119687	broad.mit.edu	37	11	4929452	4929452	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr11:4929452C>T	ENST00000359350.4	+	1	853	c.853C>T	c.(853-855)Ctt>Ttt	p.L285F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTGCCGCCCCTTATGAACCC	0.453000													42	70					0	0	0.000270559	0	0
PSG3	5671	broad.mit.edu	37	19	43237057	43237057	+	Silent	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr19:43237057G>A	ENST00000327495.5	-	3	772	c.588C>T	c.(586-588)tcC>tcT	p.S196S	PSG3_ENST00000595140.1_Silent_p.S196S	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	196	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region		p.S196S(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TTTTGTTTTTGGACAACTGCA	0.507000													83	132					0	0	0.000781405	0	0
FMN2	56776	broad.mit.edu	37	1	240371717	240371717	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:240371717C>T	ENST00000319653.9	+	5	3835	c.3605C>T	c.(3604-3606)cCt>cTt	p.P1202L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1202	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCCTCTACCTGGTGCTGGG	0.672000													3	3					0	0	0.00024832	0	0
ZHX3	23051	broad.mit.edu	37	20	39831821	39831821	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr20:39831821G>A	ENST00000309060.3	-	4	2151	c.1736C>T	c.(1735-1737)tCg>tTg	p.S579L	ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.S579L|ZHX3_ENST00000432768.2_Missense_Mutation_p.S579L|ZHX3_ENST00000540170.1_Missense_Mutation_p.S579L|ZHX3_ENST00000560361.1_Missense_Mutation_p.S579L|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000559234.1_Missense_Mutation_p.S579L			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	579					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				GACCTTGGACGATGGGGAGAA	0.532000													44	75					0	0	0.000781405	0	0
VCAN	1462	broad.mit.edu	37	5	82817593	82817593	+	Silent	SNP	T	T	C			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr5:82817593T>C	ENST00000265077.3	+	7	4033	c.3468T>C	c.(3466-3468)ccT>ccC	p.P1156P	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Silent_p.P1108P|VCAN_ENST00000342785.4_Silent_p.P1156P	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1156	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CTTTGAGTCCTTTTAGTACCC	0.398000													4	72					0	0	0.000602214	0	0
CDYL2	124359	broad.mit.edu	37	16	80718728	80718728	+	Missense_Mutation	SNP	C	C	T	rs151165278	byFrequency	TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr16:80718728C>T	ENST00000299564.8	-	2	478	c.323G>A	c.(322-324)cGa>cAa	p.R108Q	CDYL2_ENST00000562812.1_Missense_Mutation_p.R108Q|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000563890.1_Missense_Mutation_p.R108Q|CDYL2_ENST00000566173.1_Missense_Mutation_p.R108Q	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	108						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						AGGGTTAATTCGCTTCCGTTT	0.562000													23	18					0	0	0.000375601	0	0
TNXB	7148	broad.mit.edu	37	6	32063513	32063514	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr6:32063513_32063514delAC	ENST00000375244.3	-	3	2317_2318	c.2116_2117delGT	c.(2116-2118)afs	p.V706fs	TNXB_ENST00000375247.2_Frame_Shift_Del_p.V706fs|TNXB_ENST00000479795.1_Frame_Shift_Del_p.V706fs			P22105	TENX_HUMAN	tenascin XB	706	EGF-like 18.				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						GAAGCCCTCTACACACACACAC	0.668													7	238	---	---	---	---					
ABCB9	23457	broad.mit.edu	37	12	123425520	123425520	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr12:123425520delC	ENST00000542678.1	-	8	4241	c.1403delG	c.(1402-1404)gcfs	p.G468fs	ABCB9_ENST00000280560.8_Frame_Shift_Del_p.G468fs|ABCB9_ENST00000344275.7_Frame_Shift_Del_p.G468fs|ABCB9_ENST00000392439.3_Frame_Shift_Del_p.G468fs|ABCB9_ENST00000541983.1_5'UTR|ABCB9_ENST00000540285.1_Intron|ABCB9_ENST00000346530.5_Frame_Shift_Del_p.G425fs|ABCB9_ENST00000442833.2_Frame_Shift_Del_p.G468fs|ABCB9_ENST00000442028.2_Frame_Shift_Del_p.G468fs			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	468	ABC transmembrane type-1.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CTGCATCAGGCCACTGTAGAC	0.647													2	4	---	---	---	---					
ABCC6P1	653190	broad.mit.edu	37	16	18593649	18593649	+	RNA	DEL	A	A	-			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr16:18593649delA	ENST00000546162.2	+	0	805					NR_003569.1																						ccctgtctcgaaaaaaaaaaa	0.507													4	5	---	---	---	---					
NR0B1	190	broad.mit.edu	37	X	30326975	30326975	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chrX:30326975delC	ENST00000378970.4	-	1	740	c.506delG	c.(505-507)gcfs	p.G169fs	NR0B1_ENST00000453287.1_Frame_Shift_Del_p.G169fs	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	169	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CCACCACGCGCCCCCTGGCCG	0.682											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
